If you are in the U.S., the only place where you can legally get genetic testing for BRCA mutations is Myriad Genetics. Myriad owns the patents on the BRCA1 and BRCA2 genes. The current list cost of the comprehensive test is $3120 USD. (No idea if that includes taxes and other fees.) While some insurance companies will cover testing, not all do. No need to mention that many people in the U.S. do not have insurance.

Well, you would think that the cost of testing from Myriad has been going down as genetic research becomes more advanced and more automated. In fact, doctors say it has been going up. Check out the look on Myriad’s founder, Mark Skolnick, when he was asked about pricing in this video clip from In the Family:

How much cheaper would BRCA testing be if there was competition? Some researchers believed they could have developed a test to identify mutations in BRCA1 for as little as $10 USD… in 1999. Hmm… no wonder why Myriad’s founder looked so embarrassed.

Now if this isn’t bizarre enough: Complete Genomics is said to be offering the entire sequencing of a human genome for $4000. That means technically researchers could use this service not only find mutations in a person’s BRCA1/2 genes but also all other genes.

I am still trying to wrap my head around what a gene patent means and how Myriad, in particular, has applied their patents. I don’t want to rush to say that everything Myriad has done is wrong. But I find this pricing “discrepancy” to be something that warrants further discussion. There will definitely be more posts on this topic in the future.

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I just called the cancer agency today to follow up on my BRCA testing referral. Here in Canada, I need a doctor’s referral to the cancer agency for genetic counselling and testing. I just moved to Canada four months ago. So first I had to find a doctor, which everyone will tell you is very hard. Few family doctors are accepting new patients. I dug around on the Internet and found one who seemed to have good recommendations and accepting patients. So I made an appointment to discuss my two concerns: (1) BRCA testing (2) low-back pain.

Before going on, let me say that I don’t feel very confident in working with the health care system and talking to doctors. I grew up in the U.S. and never understood how health insurance worked. My mother had me covered under her insurance. I didn’t have any serious or chronic conditions so I was lucky enough not to have to visit the doctor that often. But after my mother’s insurance stopped covering me when I was an adult, I never thought to get my own. I adopted the attitude that doctors should be avoided as much as possible. I left the country and lived in western China for a year. No insurance but I didn’t worry about that since I knew I could at least afford basic care out of pocket (though I would be more worried about the quality of the care). I later moved to Hong Kong, and was introduced to the novel system of affordable public health care. I also got free health care through the university I studied and worked at. But I still have a very apprehensive attitude about doctors. I always doubt they pay attention to my specific situation. So, I usually use the Internet to diagnose and treat myself unless it’s really something I can’t do myself.

So anyways, I went to the doctors with papers in hand. I already found the referral form on the Internet (under the health care practitioners section!) and knew to bring my mother’s report. The doctor started the usual new patient routine of asking me about my personal medical history and family history. I never know how to answer those questions. How much detail do they need? On the family history question, I asked her what type of info she wanted and she listed off several diseases. I didn’t hear cancer so I said “Nope.” Then she jumped in to “So what about this back pain you just mentioned”? I said I actually wanted to talk first about genetic testing for cancer because of my family’s history of cancer. She was a little exasperated, “That’s what I just asked you and you said no.” I felt sheepish. When I told her I wanted genetic testing and needed a referral, she injected that she wasn’t sure who to refer to me yet. I pulled up my papers and explained that I already had the forms, the necessary report, and tried to point out the procedures. She took them with a cursory glance and started saying I should have given this to the receptionist to photocopy. I told her that these were already photocopies that I had made for her. So, she assured me that they would send in the papers and then returned to the back pain problem.

As I told the doctor the symptoms (pain for 6 months, brought about from sitting, no help from NSIDs or physical therapy), she was busily writing down a referral for X-rays and physical therapy. I was relieved to see her giving me an X-ray since I thought it’s about time I figure out what the root cause of this back pain. But I really wanted to mention to her the idea of screening for ovarian cancer too, “just in case.” I really doubt that cancer is the cause, but it sure wouldn’t hurt right? Still, I couldn’t bring myself to suggest the idea. (Do I just want to do it because I am scared about the BRCA test results?) I kinda wanted to believe that if she didn’t mention it herself, then it meant it wasn’t a possibility.

So that was end. I left without ever mentioned my worries over ovarian cancer and I thought to myself, “I really don’t understand how doctor appointment’s are supposed to go.” I felt so out of control during the appointment, despite the fact that I had spent a lot of time thinking about it beforehand. I felt frustrated that the doctor didn’t let me take the lead especially when it was clear that I was well-prepared. I understand that many patients are the opposite of me and want to have the doctor do everything (including making photocopies!). But that’s not me, I feel that I know best how to take care of myself. I go to doctors to help me figure out my problem. I’d never go to the doctor for something that I know that can be taken care of with home treatment. For silly things like referral forms, I don’t understand why I can’t just get a doctor’s signature and send them myself. I have a lot more faith in me getting it filled out right and sent right away then the overworked receptionist.

A week later I had to call the office to find out the results of the X-ray (no one called me). The receptionist said “The X-rays are normal” and nothing more. That’s it? Did someone besides the receptionist actually look at those X-rays? So now what? Do I do more physical therapy even though I have already tried that route and it didn’t help? The only thing I know that helps is to avoid sitting, but that’s not a practical solution if I am ever going to work in an office again! I am still chewing over this, not sure what to make of it.

Ok, so returning to today. I called the cancer agency today because I haven’t heard anything about my referral. The extension I had found for these questions lead to a voicemail. The person-in-charge is out of office for the next two weeks. So I called the main line and explained that I had a referral sent in but didn’t know what it’s status was. The receptionist said she would forward me to the appointment line to see if an appointment had been booked. (Does that make any sense? How could I have an appointment booked when I haven’t even talked to anyone about making an appointment?) The appointment line was a voicemail which told me to leave my name and chart number. I hung up because I knew I had no chart number.

Grrrr! How on earth is it that hard to deal with referrals in a timely matter? What do they consider as a normal processing time? A month? Two or three? I know that I still have to have a counselling appointment before they can even do the test. Who knows when appointments are being booked for? Couldn’t they just make an appointment right away even if it’s several months away? Did my doctor’s receptionist really send in the referral right away like they said they would? I am so frustrated with this system. I want more control over my health care. I don’t want to just be sitting here at home waiting for the phone to ring “someday.”

Boston Biotech Watch has been keeping a close eye three big trends and their impact on VC deal-making: real-world applications of genetic data, personalized medicine and health care reform. Can startups use genetic data to drive down drug costs? To what extent will genetics become the high-value gatekeeper for future pharma industry success? And will VCs be able to exit from companies in this sector quickly enough to reap outsized returns?

Judging from the VC activity in the space, some venture investors apparently think that strong exits are likely. What a radical departure! Right up until the early years of this decade, “diagnostics” was a dirty word in biotech venture circles. Most diagnostics deals smelled bad to most VCs whether the deals were sample-prep focused (like Cytyc, which was a massive success) or cancer biomarker repositories like DiaDexus, a high-profile joint venture between SmithKline Beecham and Incyte that raised $102.5 million in 2000, is still privately held and, despite one commercial test for coronary disease that finally achieved Medicare reimbursement in 2007, does not appear to have provided much – if any – of a VC return.

It has long been a VC maxim that “you could wait forever for the US health care system to move in a more rational direction” and that therefore VCs had to do deals that were consistent with the existing models no matter how broken these models were. Cynicism was rewarded, idealism punished.

Yet suddenly the United States appears to be on the verge of the largest health care reform (HCR) in its history and, perhaps not surprisingly, what feels like dozens of deals related to diagnostics, genetics and HCR have begun to materialize. The deals reflect many different ways of looking at the personalized medicine opportunity (see Tables 1 and 2).

Boston Biotech Watch recently attended the sixth “Personalized Medicine Conference” at Harvard and did some additional reading and research. This, along with proprietary information from CBT Advisors serves as basis for this snapshot. Our goals here are threefold:

(1) To explain – with examples – what sorts of companies are getting funded;
(2) To disclose the rationale driving the deals for some of the key investors in the space; and
(3) To hold up one recent high-profile deal, Generation Health, as the sort that other investors were clamoring (mostly without success) to get into.

Just judging by the attendance at this high-quality conference, put on annually by the Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) as well as Harvard Business School (HBS), the field is gaining momentum. More than 600 participants registered, compared to just 237 at the inaugural conference in 2005.

Our breakdown of VC deals in the personalized medicine space follows in Tables 1 and 2 below. Why are VCs convinced – despite such a negative history for investing in diagnostics – that personalized medicine is where the big money will be? Try “tenfold growth,” a squishy yet thought-provoking projection included in the December, 2009, report entitled “The New Science of Personalized Medicine” by PriceWaterhouseCoopers (PWC). Even allowing for the typical hyperbole associated with such reports, there is apparently more money than ever to be made from genetics, genomics, diagnostics, theranostics and related technologies.

Table 1: Diagnostics and genetic testing companies from which top-tier VCs have exited

San Francisco-based venture capitalist Dion Madsen, a Managing Director at Physic Ventures, affirmed the newfound VC enthusiasm for personalized medicine when Boston Biotech Watch paid him a December visit. Physic is one of many VCs looking hard at the diagnostics space and one of the few to have diagnostics as a mandate. The firm’s tagline is “Investing in Keeping People Healthy.” So Madsen is an especially apt guide to the promise and the pitfalls of the space.

Ahead of a shift to test-prompted care
VC dealmakers usually like to tell themselves that they are just ahead of a paradigm shift and this field is no exception. The idea that genomic information is useful for drug discovery and clinical testing is starting to “percolate” through pharma, Madsen said, and is already leading to better drug design. But the use of genetic information related to the individual patient, for example in the form of genetic-based diagnostic tests, he said, is “only just beginning.”

Behind the big numbers is a firm conviction that payers in the US healthcare system (insurers and government programs like Medicare) will actually come to rely upon and reward molecular and scientific information instead of simply succumbing to ever more expensive marketing campaigns by pharmaceutical, biotech and medical device companies.

If I take them all, will they cancel each other out?

There is very little in the current package of health reform bills being negotiated in both houses of the US Congress that deals with molecular testing. The closest that HCR comes is in mandating a relatively modest $1 billion for so-called “Comparative Effectiveness” (CE) funding which is meant to determine which therapeutic regimes – be they surgeries, implantable devices, dietary regimes or drugs – are actually working in contrast to the traditional approach of casting each and every clinical trial in the form of a validation or rejection of a single new medication or device. Still, for Madsen, the CE trend is a friend. “Comparative Effectiveness is already a reality,” Madsen said. “That card has been turned.”

Physic has developed four simple criteria – they fit on one side of a sheet of notebook paper – that characterized “doable deals” in the personalized medicine space. For Physic, an investment must be:

1. Actionable – it informs a decision around treatment, preventive action or behavior

2. Cost-effective

3. Based on validated science; and

4. Clinically meaningful.

To pick a widely publicized group of companies that, in our view, fail on “actionability,” consider the consumer genomics companies 23andme, Navigenics and Knome. These companies have won some high-profile backers – 23andme, for example, has Google as a key investor. “What 23and me and DNA Direct are doing is really interesting,” Madsen said, “[it is] just ahead of its time.” These services – which have been dubbed “recreational genomics” – are not actionable enough, he said, for them to be good VC investments. Madsen: “The utility of learning every base pair is very low.”

Genomic Health: A Pioneer, Yes, But a Replicable One?

Historically, only a handful of VC-backed diagnostics companies have managed to fulfill Physic’s criteria and make their investors money. Genomic Health (NASDAQ: GHDX) is perhaps the most prominent of these. The company raced from its first institutional funding to Medicare reimbursement in just five years and pulled off a successful IPO in 2005. In the meantime, its single marketed test – an algorithm-based test

called OncotypeDX for guiding breast cancer therapy – now earns more than $140 million in annual revenue. It helps physicians choose treatments that are on the extreme end of the cost spectrum – a $3,500 test that can allow patients – and payers – to avoid bills of $30,000 or more for chemotherapy. That value proposition – along with Genomic Health’s compelling retrospective data – convinced Medicare and other insurers to agree to reimburse the test beginning in January, 2006.

But OncotypeDX is an imperfect example in several ways: First and foremost, not many therapies cost $30,000, so very few tests will be reimbursed at $3,000 or more. Second, FDA has signaled that tests based on algorithms like OncotypeDX will require a greater degree of validation in the future. (How much tougher the regulatory regime will be is likely to become clear in mid-2010, when FDA issues its long-awaited guidelines for so-called “IVD MIA” tests – in vitro diagnostic multivariate assays.) And finally, the return on the $103 million invested in Genomic Health before the IPO was probably more like 3x than the usual 6-8x that VCs consider a “home run.”

Brook Byers, Kleiner Perkins’ diagnostics VC visionary (Image Justin A. Knight)

Genomic Health was a Kleiner Perkins deal and the other two “DX” companies in which Kleiner invested, CardioDx (founded 2004) and XDx (2000), have apparently not made it to big revenues or VC exits nearly so quickly. Indeed, both are still privately held. One East Coast VC to whom Boston Biotech Watch spoke said, “Yes, CardioDx has found a potentially relevant market opportunity, but they had to do a 4,000-patient study.” CardioDx is reported to be raising money at a lofty valuation.

Table 2: Private diagnostics and genetic testing companies in which VCs have invested

Among the still-private companies identified in the CBT Advisors screen (see Table 2 for examples), several are looking for ways to capture content and use it to provide immediate value to patients and payers. We consider these the “content” companies. Genomic Health, CardioDx and XDx all fall into this category. These companies run the gamut of indications, with existing plays in cancer (many including Genomic Health, Genomic Vision, Precision Therapeutics, Claros, MTM Labs and On-Q-Ity, which will be discussed further along in this post); cardiovascular disease (CardioDx, XDx), rheumatology and inflammation (Crescendo), diabetes (Tethys) and the ever-popular (and close-to-market) infectious disease, particularly point-of-care tests for nosocomial infections (Opgen, Progentech, Curetis, AdvanDx).

Another group has developed a proprietary technology that either grabs the content (e.g. the microfluidics of Artemis Health, a prenatal diagnostics company) or that prepares it for analysis (Handylab, acquired in October by Becton Dickinson for a reported $275 million). Some technologies do both (T2 Biosystems, a Boston-area Polaris investment based on technology from the prolific Robert Langer lab at MIT). We consider these to be “box” or “sample prep” companies although some of course are also offering unique content.

Recently Physic Ventures acted on its strategy and put its money into a Boston-area diagnostics startup, On-Q-Ity, that meets all four criteria. Like Genomic Health, On-Q-Ity (from Oncology + Quality + Clarity) will provide actionable information in the form of decision support to physicians treating cancer patients. . The validated science consists of (1) biomarkers found in tumor cells that determine their level of progression and therefore the advisability of treating patients at a particular moment; and (2) assays that determine susceptibility to specific chemotherapeutic agents based on mutations in the genes involved in DNA repair. As with the “box+content” companies, On-Q-Ity not only has the rights to these biomarkers and mutation assays but also a proprietary microfluidics technology that is able in principle to pluck circulating tumor cells out of the bloodstream even when these cells are quite rare. The company then applies the two technologies, yielding an unprecedented snapshot of both “treatment response and tumor cell composition … at a molecular level,” Madsen said. Both cost-effectiveness and clinical validity will have to be determined by clinical trial, presumably done prospectively.

On-Q-Ity’s management is something of a dream team. The CEO, Mara Aspinall, was the long-time president of Genzyme’s genetic testing division, which under her leadership developed and commercialized many new tests. Aspinall, who is also on the board of one of Massachusetts’ largest health insurers (Blue Cross Blue Shield of Massachusetts) has about the best track record imaginable for a genetic testing company CEO. In her spare time, she serves as a lecturer in health care policy at Harvard Business School.

In our view, On-Q-Ity scores highest on the first criterion, actionability. As we will address again when we get to Generation Health, oncology diagnostics are already high-value due to the high cost of treatment. In an article on personalized medicine published in 2007 by Aspinall and her HBS colleague Richard Hamermesh, she identified five cancer indications (pancreatic, liver and so on) in which patients typically have low one-year survival and therefore “do not have time to spare” for traditional, “trial-and-error” medicine. If On-Q-Ity can use biomarkers to inform physicians when to treat aggressively or even which chemotherapeutic agents to deploy, then its tests will undoubtedly be reimbursed at or perhaps even above the levels seen for OncotypeDX.

The wild card for On-Q-Ity is the level of validation that will be demanded by FDA and payers. Madsen said that even in the honeymoon phase following the investment, “We are still struggling with, do we need a prospective trial? If so, how do we design it?” These demanding constituencies – FDA, payers, oncologists, cancer patients – will, it seems to us, insist on such a trial. As Madsen put it, “How do you tell an oncologist not to treat a patient with the standard of care? This is our challenge.”

Even when a company meets all of Physic’s criteria, the road may still be uncomfortably long. After all, these companies – like CardioDx and its 4,000-patient study, not to mention DiaDexus and its single approved test – are all attempting to achieve validation under the “old” criteria. How soon can HCR change that?

Generation Health: “The Consumer Reports of Genetics”
These struggles are what make Generation Health stand out. GenHealth

seemed to be the darling of the Personalized Medicine Conference and VC firms have been “pounding down the doors” to get in, according to a couple of top-tier VCs (the only announced VC investor is Highland, which made a first institutional investment in the company in 2008, though rumor has it that a second Boston-area fund has joined the syndicate).

GenHealth has the potential to be a high-flyer because it stands in a far different corner of the health care system – next to the payer. GenHealth intends to “help employers and other health care payors manage medical costs and improve their employees’ and members’ health by assuring optimal utilization of genetic testing.” To do this, according to its web site, it will perform three tasks:

• Establish a rational basis for covering or excluding genetic tests based on clinical validity and utility;
• Negotiate discounted rates for tests; and
• Identify patients who would benefit from testing through analysis of medical and pharmacy claims.

These activities would make GenHealth a “filter” for insurance companies and employers. Madsen dubbed them “the “Consumer Reports of Genetics” – a company perceived to be a fair arbiter of the value of genetic tests. “We’ve seen other companies such as DNA Direct do this for HMOs and payers including some we know very well,” Madsen said. “But no other company can do it to the extent that Generation Health would. GenHealth will have better decision-making data,” presumably from aggregating anonymized data across insurers or analyzing claims. In November, 2009, GenHealth signed its first public collaboration with CVS Caremark, a pharmacy benefit manager that already has a pharmacogenomics program. (No surprise about the identity of the first deal partner – CVS Caremark’s Chief Medical Officer Troyen Brennan sits on GenHealth’s board).

What gets VCs excited about GenHealth is its ability not only to take advantage of HCR but to actually participate in it by driving down health care costs and increasing use of gatekeeping genetic tests. GenHealth styles itself a “Genetic Benefit Manager [GBM],” analogous to the Pharmacy Benefit Managers (“PBMs”) Medco and the like – a company where GenHealth founding CEO Per Lofberg served as chairman from 1993 to 2000.

Raju Kucherlapati, Harvard professor and Personalized Medicine Conference founder (Image Justin A. Knight)

The discussion about GenHealth’s business stimulated one of the more interesting exchanges of the conference. PCPGM founder and conference organizer Raju Kucherlapati asked CVS Caremark’s Brennan exactly how many tests CVS Caremark is already reimbursing for or including in its decision-making process about providing pharmacy benefits. Brennen did not answer the question, but he did say that the first inroads are in “high-cost disease.” If a treatment costs $100,000 a patient, for example, and a test costs $1,000, even one patient being safely spared the treatment more than pays for the cost of the test for many patients.

“Right now [our testing] is limited to a series of cancer diagnostics,” said Brennen. “Like most PBMs, we operate a specialty pharmacy with high-cost medications and that is where we do the most genetic testing,” he added. In the non-specialty areas, there is not yet “reasonable evidence” for incorporating it into practice, although testing is more prevalent there than it was five years ago. However, the amount spent on testing is expected to grow quickly, he said, because “at Caremark, we will be leaders in cost reduction. That is why it is important for us to incorporate genetic tests. We want to stay away from provider-driven modes,” that is, to pay for care that matters to the patient.

(At the same moment as this edition of Boston Biotech Watch went up on the morning of December 21, 2009, CVS Caremark announced that it was taking “an increased ownership interest” in Generation Health. The press release quoted CVS Caremark Chairman Tom Ryan as saying that, with the additional investment, CVS Caremark is “accelerating our commitment to personalized medicine and making genomic benefit management an integral part of our PBM offering.” Indeed, in the same announcement, CVS Caremark named GenHealth CEO Per Lofberg as the President of the company’s PBM business; GenHealth co-founder will become its new CEO. Although the release said that GenHealth will continue to operate as an independent business, “offering a full range of GBM services to health care payors,” it was left unclear how free GenHealth would be to do strategic deals with other PBMs. Terms were not disclosed.)

Meanwhile, new genetic tests keep pouring in to payers at a rate of what feels like “100 a week,” said Madsen. Each new test faces the traditional gauntlet of long-term, prospective studies before it can start making investors money. So not only are new tests needed but also, as Aspinall and Hamermesh described in their 2007 article, better regulatory and reimbursement regimes. Until these key pieces are in place, most VC deals in the space will be vulnerable to the cash and momentum drain of drawn-out prospective testing.

# # #

Disclaimer: CBT Advisors has worked with Precision Therapeutics and Genomic Vision. When he was a venture capitalist, Steve Dickman was part of a team that invested in Precision Therapeutics.

I’m annoyed – at what, I don’t really know…practically everything…I’ve been in such a mood lately, that’s why I haven’t written anything – but I have been keeping up with all of you (not annoyed at you).

I don’t know what it is.  I did go to the new clinic on Friday.  They’re supposedly the best.  At first the doctor rubbed me the wrong way- but then he was fine.  You’d think that since now I’m in the works to start IVF in a few months I should be happy – but I’m stressed out – and that’s not good.

I think part of it is, is that I don’t want to be in this position.  I just want to be “normal”…have sex, have baby – DONE…but instead I have to go through a million tests and procedures and worry about genetics and morality and all this stuff…it’s too much!  I am one of those people who believe that life begins when sperm and egg meet, my husband and I’m sure many of you are not.  I feel that’s fine as long as we all respect each other and our decisions.  So the doctor’s all grumpy with me at first because I don’t want to meet with a genetic counselor now, instead of (if at all) after being pregnant.  I won’t have an abortion and I won’t discard embryos…so why meet with the counselor and have them scare the pants off me and DH and then have DH and I at odds over embryo genetic testing.  Again, if we just had sex and got pregnant that would be a non-issue!  Then, I told him that even though the success rate is lower, that I only want them to try to fertilize 2 eggs…I know neither of them may fertilize, but I personally wouldn’t be able to discard extra embryos and my DH doesn’t want to freeze them…so we’re stuck with low chances and I’m annoyed- I’m annoyed that I’m in this position to have to make these choices.  I’m annoyed that I believe what I believe – that sounds nuts – I KNOW!  I don’t know – I’m tired, the doc raised my Meformin to 2000 mgs a day (4 pills) so I feel sick, I hate going to work, my apartment is a mess, I’m out of shape, I have nothing to wear for Christmas and I’m annoying all of you with my ramblings – sorry – and thank you for ‘listening’ to me vent…it really helps.

By Cynthia Marcotte Stamer

Employers are facing new headaches and liabilities under new federal genetic information nondiscrimination and privacy rules for employers and health plans enacted under the Genetic Information Nondiscrimination Act. GINA’s genetic information nondiscrimination and confidentiality rules for employers became effective on November 21, 2009.  Its separate genetic information nondiscrimination and privacy mandates for group health plans generally apply to post May 20, 2009 plan years.  Employer and health plan efforts to comply with these mandates has been complicated both by the challenges they create for certain wellness, disease management, environmental safety and other obligations, and the absence of final regulations.

With the compliance deadline now passed, many employers and health plans now are struggling to maintain viable wellness, safety and disease management programs within the allowable parameters of GINA and the newly tightened disability discrimination requirements of the Americans With Disabilities Act.  In the face of these challenges, many employers are arguing that these regulations should be revised in order to allow and encourage employers and their health plans to provide beneficial disease management, wellness and safety programs made too risky by the current regulatory structure. 

The Department of Health & Human Services (HHS) plans to hold a public meeting of the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) of the U.S. Public Health Service on February 4-5, 2009.  As part of the planned agenda, SACGHS will get an update from Federal agencies on activities related to the implementation of the Genetic Information Nondiscrimination Act, the coverage and reimbursement of genetic tests, the oversight of genetic testing, and the retention and use of residual dried blood spot specimens after newborn screening. The meeting will offer the opportunity for members of the public to attend the meeting on a space available basis or to view a Webcast.

The SACGHS  meeting will be held from 8:30 a.m. to approximately 5:30 p.m. on Thursday, February 4, 2010, and from 8 a.m. to approximately 3 p.m. on Friday, February 5, 2010, at the Omni Shoreham Hotel, 2500 Calvert Street, NW., Washington, DC 20008.

Other announced agenda items include:

• The review of a revised report on gene patents and licensing practices;
• The review of a public consultation draft report on genetics education and training;
• An information-gathering session on the mechanisms and policies related to genomic data sharing;
• A preliminary discussion to help plan a future session on implications of an affordable genome;
• A report on activities of the Clinical Utility and Comparative Effectiveness Task Force; and
• Updates from Federal agencies on activities related to the implementation of the Genetic Information Nondiscrimination Act, the coverage and reimbursement of genetic tests, the oversight of genetic testing, and the retention and use of residual dried blood spot specimens after newborn screening.

For more information about registration for the meeting, submission of comments and other details, here.

If you have questions about or need assistance evaluating, commenting on or responding to the  GINA, or other employment, health or other employee benefit, workplace health and safety, corporate ethics and compliance or other concerns or claims, please contact the author of this article, Curran Tomko Tarski LLP Labor & Employment Practice Group Chair Cynthia Marcotte Stamer.  Board Certified in Labor & Employment Law by the Texas Board of Legal Specialization and Chair of the American Bar Association RPTE Employee Benefits & Other Compensation Group, Ms. Stamer is experienced with assisting employers and others about compliance with federal and state equal employment opportunity, compensation and employee benefit, workplace safety, and other labor and employment, as well as advising and defending employers and others against tax, employment discrimination and other labor and employment, and other related audits, investigations and litigation, charges, audits, claims and investigations by the IRS, Department of Labor and other federal and state regulators. Ms. Stamer has advised and represented employers on these and other labor and employment, compensation, employee benefit and other personnel and staffing matters for more than 20 years. Ms. Stamer also speaks and writes extensively on these and other related matters. For additional information about Ms. Stamer and her experience or to access other publications by Ms. Stamer see here or contact Ms. Stamer directly.   For additional information about the experience and services of Ms. Stamer and other members of the Curran Tomko Tarksi LLP team, see here.

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We hope that this information is useful to you. If you or someone else you know would like to receive future updates about developments on these and other concerns, please be sure that we have your current contact information – including your preferred e-mail – by creating or updating your profile here or e-mailing this information here or registering to participate in the distribution of our Solutions Law Press HR & Benefits Update distributions here.  Some other recent updates that may be of interested include the following, which you can access by clicking on the article title:

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• US and UK Agree to Share Information & Cooperate On Pension Security As US Defined Benefit Plan Sponsors Face Tough New Defined Benefit Plan Funding Requirements
• Congress Considering Extending & Expanding Group Health Plan COBRA Subsidy Mandates On Heels of Enactment of Expanded Military Leave-Related Family Leave Mandates
• EEOC Prepares To Broaden “Disability” Definition Under ADA Regulations
• Tighten Employment, Ethics & Internal Controls Policies & Practices To Minimize DOJ & Other Antitrust Exposures
• OSHA Final Rule Updates OSHA Personal Protective Equipment Standards
• “Disability” Definition Not Retroactive, Employer Action Needed To Manage Post 1/1/2009 Risks

For important information concerning this communication click here.   If you do not wish to receive these updates in the future, send an e-mail with the word “Remove” in the Subject here.

©2009 Cynthia Marcotte Stamer. All rights reserved.

In their forecast “The World in 2010” special issue, the Economist points to “The looming crisis in human genetics” wherein scientists will reluctantly acknowledge that, even with super-cheap genome sequencing tools, we may not soon understand how genetic variation contributes to complex illness.  The argument is a valid one to be sure, but only time will tell.

A paper I read recently, reminded me of the long hard slog ahead in the area of genomics and psychiatric illness.  The authors in “Association of the Glutamate Transporter Gene SLC1A1 With Atypical Antipsychotics–Induced Obsessive-compulsive Symptoms” [Kwon et al., (2009) Arch Gen Psychiatry 66(11)] are trying to do something very important.  They would like to understand why certain (most) psychiatric medications have adverse side-effects and how to steer patients clear of adverse side-effects.  This is because, nowadays, a patient learns via a drawn-out trial-and-error ordeal about which medications he/she can manage the benefits/costs.

Specifically, the authors focused their efforts on so-called obsessive-compulsive symptoms that can arise from treatment with atypical antipsychotic medications.  Working from 3 major medical centers (Samsung Medical Center, Seoul National University Hospital and Asan Medical Center) Kwon et al., were able to cobble together a mere 40 patients who display these particular adverse side-effects and matched them with 54 patients based on several demographic and medication-based criteria.  Keep in mind that most genetic studies use upwards of 1,000 samples and still – hardly – are able to obtain significant effects.

Nevertheless, the authors note that the glutamate transporter gene (SLC1A1 or EAAC1) is a most logical candidate gene, being a located in a region mapped for obsessive-compulsive disorder risk and also a gene that appears to be down-regulated in response to atypical anti-psychotic treatment (particularly clozapine).  A series of statistical association tests for 10 SNPs in this gene reveal that two SNPs (rs2228622 and rs3780412) and a 3-SNP haplotype (the A/C/G haplotype at rs2228622-rs3780413-rs3780412) showed modestly significant association (about 4-fold higher risk) with the adverse symptoms.

To me, this is a very noteworthy finding.  A lot of work went into a very important problem – perhaps THE most pressing problem for patients on anti-psychotic medications today – and the results, while only of modest significance, are probably biologically valid.  The authors point out that rs2228622 and rs3780412 have previously been associated with OCD in other studies.

But when you compare these modest results (that these authors fought hard to obtain) with the big promises of the genomic era (as noted in the Economist article), well then, the results seem rather diminutive.  Will all patients who carry the risk haplotype be steered away from atypical antipsychotics?  Will big pharma (the authors of this paper disclose a great many ties to big pharma) support the fragmentation of their blockbuster drug markets into a hundred sub-populations?  I doubt it.  But some doctors and patients will experiment and continue to explore this avenue of inquiry – and it will take a long time to work out.  Better check back in 2020.

The recent paper, “Comparative genomics of autism and schizophrenia” by Bernard Crespi and colleagues provides a very exciting take on how genetic data can be mined to understand cognitive development and mental illness.  Looking at genetic association data for autism and schizophrenia, the authors point out that 4 loci are associated with both schizophrenia and autism – however, with a particular twist.  In the case of 1q21.1 and 22q11.21 it seems that genetic deletions are associated with schizophrenia while duplications at this locus are associated with autism.  At 16p11.2 and 22q13.3  it seems that duplications are associated with schizophrenia and deletions are associated with autism.  Thus both loci contain genes that regulate brain development such that too much (duplication) or too little (deletion) of these genes can cause brain development to go awry.  The authors point to genes involved in cellular and synaptic growth for which loss-of-function in growth inhibition genes (which would cause overgrowth) have been associated with autism while loss-of-function in growth promoting genes (which would cause undergrowth) have been associated with schizophrenia.  Certainly there is much evidence for overproduction of synapses in the autism-spectrum disorders and loss of synapses in schizophrenia.  Crespi et al., [doi:10.1073/pnas.0906080106]

Other research covered (here, here) demonstrates the importance of the proper balance of excitatory and inhibitory signalling during cortical development.

& I do NOT have a BRCA mutation.

Which is, yes, good news. Who wants to take me out for a martini? But my sense of emotional relief is tempered by the rational knowledge that this relief is largely artificial and unfounded, since I’ve already had f-ing cancer, and could die from it still.  And there’s no certain explanation for it now; cancer being genetic & all, not having the BRCA mutation likely means there’s some other genetic malfunction in me that hasn’t been discovered (and patented) yet.

I am taking the same course of action in light of these results as I promised myself I would if I tested positive: ie, doing nothing. But do feel blessedly exempt from that pressure of BRCA-scaremongering into preventative surgery.

I really wonder whether there is something defunct with my primal sense of self-preservation. I’d probably feel differently about preventative surgeries if I had children, or a life’s work, or anything else to live for. But I thought about it as I lay in bed this morning, hitting the snooze button over and over, and came to the same old conclusion: how presumptuous it seemed to act as if my life was really all that important–and how pointless it seemed to go through such great pains to prolong it.

Which is why I am dreading my upcoming mammogram, and why I have not called for the results of the CT scan I had six weeks ago. If I have cancer, still or again, I don’t want to know. I don’t want any more treatment. It’s terror and desperation, exhaustion and depression. But I can’t sustain myself on any of that, and I don’t want to.

(I am eligible to be tested for Li-Fraumeni syndrome, but would have to pay $3,000 for the privilege. And really, there’s not much point in knowing anyway, since there’s nothing anyone can do but wait for you to get brain tumors and leukemia and all the rest.)

I’m still obviously at risk for a new breast cancer on the left side, or for a recurrence/metastasis of the primary cancer. But I realized the full implication of the negative test result about twenty miles from the hospital, and burst into tears in the middle of traffic on I-79: as far as I know, I’m at no greater risk for ovarian cancer than the rest of the general population.

And I thought of all the women walking around with their ovaries inside of them, not even thinking about it, certainly not shedding tears of joy on the interstate over it, and felt strange–but strangely elated.  Even if I can never have children, there is something psychologically comforting about keeping those bits where they belong–and not having to defend to the death my decision to do so.

Then on NPR, an interview with Vic Chesnutt, & this rather incredible song:

Vic Chesnutt – Flirted With You All My Life

which he described as a “breakup” with death & the temptation of suicide.

Bizarre how Fate sometimes supplies a soundtrack.

Oh death, oh death
Really, I’m not ready

Employers, unions, employment agencies, employment training agencies and their agents face significant new employment discrimination liability risks if they violate new genetic information-based employment non-discrimination or fail to comply with genetic information confidentiality requirements that took effect under Title II of the Genetic Information Nondiscrimination Act (GINA) on Saturday, November 21, 2009.  Employers need immediately to update their employment posters, carefully audit their existing records and practices to identify existing information and practices that may create special risks under GINA and take appropriate action to comply with the GINA rules. Employers needing an updated poster can find a copy on the Equal Employment Opportunity Commission website here.

Under the newly effective employment provisions of Title II of GINA, Federal law now prohibits employers of 15 or more employees and certain other entities from using individuals’ “genetic information” when making hiring, firing, job placement, or promotion decisions, requires “genetic information” be kept separately and confidential, and prohibits retaliation. 

When assessing their risk under GINA, employers should be careful not to overlook or underestimate the genetic information collected or possessed by their organizations and the risks attendant to this information.  Many employers will be surprised by the breadth of the depth of “genetic information.”   GINA defines “genetic information” broadly as including not only information about genetic tests about an individual or his family member as well as information about the “manifestation of a disease or disorder in family members of such individual.   GINA also specifies that any reference to genetic information concerning an individual or family member includes genetic information of a fetus carried by a pregnant woman and an embryo legally held by an individual or family member utilizing an assisted reproductive technology.  Pending issuance of regulatory guidance, GINA’s inclusion of information about the “manifestation of a disease or disorder in family members” is likely to present a liability trap door for many unsuspecting employers.

Failing to properly address GINA compliance could expose employers to substantial risk.  Violation of the employment provisions of Title II subjects an employer to potentially significant civil judgments like those that generally are available for race, sex, and other federal employment discrimination claims covered by the Civil Rights Act.  Accordingly, employers and others who have not already done so should act quickly to review and update their policies and procedures to manage their new compliance and liability exposures under GINA Title II.

While the agency responsible for construing and enforcing Title II of GINA, the Equal Employment Opportunity Commission (EEOC), to date has published only limited guidance about it, the absence of this final guidance should not be read by employers as a sign their compliance may be delayed.  While not yet issued in final form, proposed regulations interpreting Title II of GINA accessible here published by the EEOC in March, 2009  and a subsequently released factsheet accessible here published by the EEOC in May, 2009 titled “Background Information for EEOC Notice of Proposed Rulemaking On Title II of the Genetic Information Nondiscrimination Act of 2008” provide insights about how the EEOC may be expected to view its provisions.   While many employers have delayed taking action to update their policies and procedures in hopes that final guidance would be forthcoming before Title II took effect, time has now run out.  Accordingly, employers who have not already done so should act quickly to implement all necessary changes to position themselves to defend against a potential claim that their organization may have violated GINA Title II. 

Employment-Related Genetic Information Nondiscrimination Rules In Focus

Applicable to employers, unions, employment agencies, employment training agencies and their agencies based on genetic information by employers, Title II imposes sweeping prohibitions against employment discrimination based on genetic information.  Title II generally has three components:

Employment Discrimination Prohibited.  Section 202 of GINA makes it illegal for an employer:

• To fail or refuse to hire, or to discharge, any employee, or otherwise to discriminate against any employee with respect to the compensation, terms, conditions, or privileges of employment of the employee, because of genetic information with respect to the employee;
• To limit, segregate, or classify the employees of the employer in any way that would deprive or tend to deprive any employee of employment opportunities or otherwise adversely affect the status of the employee as an employee, because of genetic information with respect to the employee; or
• To request, require, or purchase genetic information with respect to an employee or a family member of the employee except as specifically permitted by GINA and otherwise applicable law.

GINA §§ 203 and 204 extend similar prohibitions to employment agencies, labor unions and training programs.

Confidentiality Mandates. Under GINA § 206, an employer, employment agency, labor organization, or joint labor-management committee that possesses genetic information about an employee or member must protect the confidentiality of that information.  Under its provisions, employers and other covered entities must:

•  Treat the genetic information as a confidential medical record of the employee or member and maintain it on separate forms and in separate medical files in the same manner as required for other medical records required to be maintained as confidential by Americans With Disabilities Act § 102(d)(3)(B); and
• Only disclose it in the narrow circumstances specifically allowed by GINA.

Anti-Retaliation.  GINA also prohibits retaliation or other discrimination against any individual because such individual has opposed any act or practice prohibited by GINA, for making a charge, testifying or assisting or participating in any manner in an investigation, proceeding, or hearing under GINA. 

GINA’s Additional Group Health Plan Nondiscrimination & Privacy Rules Also Require Attention

In addition to taking appropriate steps to comply with the employment rules of Title II of GINA, employers and their group health plan fiduciaries and service providers also should ensure that the group health plan has been appropriately updated to comply with the group health plan nondiscrimination and privacy mandates of Title I of GINA. 

Effective for all group health plan years beginning on or after May 21, 2009, GINA’s new restrictions on the collection and use of genetic information by group health plans added under Title I of GINA are accomplished through the expansion of a series of already existing group health plan nondiscrimination and privacy rules.  GINA’s group health plan provisions amend and expand the Health Insurance Portability and Accountability Act of 1996 (HIPAA), the Employee Retirement Income Security Act of 1974 (ERISA), Title VII of the Civil Rights Act, the Public Health Service Act, the Internal Revenue Code of 1986, and Title XVIII (Medicare) of the Social Security Act to implement sweeping new federal restrictions on the collection, use, and disclosure of information that falls within its broad definition of “genetic information” by  group health plans.  For individual health insurers, GINA’s restrictions take effect May 22, 2009.  The broad definition of the term “genetic information” in GINA will require group health plan sponsors and insurers to carefully review and update their group health plan documents, communications, policies and practices to comply with forthcoming implementing regulations to avoid liability under new GINA’s rules governing genetic information collection, use, protection and disclosure in a series of areas.  

In this respect, wellness and disease management programs are likely to require special scrutiny and attention. GINA’s inclusion of information about the “manifestation of a disease or disorder in family members” raises potential challenges for a broad range of group health plan health assessment and other wellness and disease management programs which provide financial incentives or condition eligibility on the provision of family health histories or other information that could be construed as genetic information.  The implications of these GINA prohibitions are further complicated by recent changes in the disability nondiscrimination rules and guidance under the Americans With Disabilities Act.

Title I of GINA generally prohibits group health plans from collecting genetic information for underwriting or eligibility purposes.  It also expands already existing federal rules prohibiting group health plans from discriminating among individuals for purposes of determining eligibility or setting premiums based on health status previously enacted as part of HIPAA.   These existing rules already prohibit group health plans and health insurance issuers from discriminating based on health related factors including genetic information for purposes of determining eligibility or premiums. GINA expands these existing nondiscrimination requirements to further regulate group health plan’s use and collection of genetic information.   Under GINA’s nondiscrimination rules, group health plans and health insurers may not:

• Request, require or purchase genetic information for underwriting purposes or in advance of an individual’s enrollment;
• Adjust premiums or contribution amounts of the group based on genetic information;
• Request or require an individual or family member to undergo a genetic test except in limited situations specifically allowed by GINA;
• Impose a preexisting condition exclusion based solely on genetic information, in the absence of a diagnosis of a condition;
• Discriminate against individuals in eligibility and continued eligibility for benefits based on genetic information; or
• Discriminate against individuals in premium or contribution rates under the plan or coverage based on genetic information, although such a plan or issuer may adjust premium rates for an employer based on the manifestation of a disease or disorder of an individual enrolled in the plan.

GINA also prohibits insurers providing individual health insurance from establishing rules for eligibility, adjusting premiums or contribution amounts for an individual, imposing preexisting condition exclusions based on, requesting or requiring individuals or family members to undergo genetic testing.

Of particular concern to many plan sponsors and fiduciaries are the potential implications of these new rules on existing wellness and disease management features group health plans. Of particular concern is how regulators will treat the collection of family medical history and certain other information as part of health risk assessments used in connection with these programs. Although official guidance is still pending, many are concerned that regulators will construe certain commonly used practices of requiring covered persons to provide family medical histories or other genetic information through health risk assessments (HRAs) to qualify for certain financial incentives as a prohibited underwriting practice under GINA.  Even where health risk assessments are not used, however, most group health plan sponsors should anticipate that GINA will require specific amendments to their plan documents, communications and processes.

Taking timely action to comply with these nondiscrimination and collection prohibitions is important.  Under amendments to ERISA made by GINA, group health plan noncompliance can create significant liability for both the plan and its sponsor.  Participants or beneficiaries will be able to sue noncompliant group health plans for damages and equitable relief.  If the participant or beneficiary can show an alleged violation would result in irreparable harm to the individual’s health, the participant or beneficiary may not have to exhaust certain otherwise applicable Department of Labor administrative remedies before bringing suit.  In addition to these private remedies, GINA also authorizes the imposition of penalties against employers and other sponsors of group health plans that violate applicable requirements of GINA of up to $500,000. The minimum penalties generally are set at the greater of $100 per day or a minimum penalty amount ranging from $2,500 for de minimus violations corrected before the health plan received notice of noncompliance to $15,000 in cases in which the violations are more than de minimus.  GINA also includes language allowing the Secretary of Labor to reduce otherwise applicable penalties for violations that could not have been identified through the exercise of due diligence or when the plan corrects the violation quickly.

GINA Amendments To Health Plan Privacy Rules Under HIPAA

In addition to its nondiscrimination rules, GINA also amends HIPAA to make clear that “genetic information” as defined by HIPAA is protected health information protected by HIPAA’s Privacy & Security Standards of HIPAA. This means that it will require that all genetic information be treated as protected health information subject to the Privacy and Security Standards applicable to group health plans covered by HIPAA. Although the statutory provisions that accomplish these changes are deceptively simple, compliance with these requirements likely will require group health plans and their business associates to amend existing privacy policies, notices and practices to appropriately restrict disclosures for underwriting, operations and certain other uses to withstand scrutiny under the GINA privacy rule amendments. 

When contemplating these changes, many plan sponsors and administrators also will want to consider and begin preparing to comply with other refinements to their existing privacy and security practices required in response to HIPAA privacy and security rule amendments enacted as part of the HITECH Act provisions of the Health Information Technology for Economic and Clinical Health Act (“HITECH Act”) provisions of the American Recovery and Reinvestment Act of 2009 (ARRA).  As GINA specifies that violations of its privacy rule restrictions trigger the same sanctions as other privacy rule violations, group health plans and their business associates also should give due consideration to these penalty exposures.  The HITECH Act amended and increased civil penalties for HIPAA privacy violations in many circumstances effective February 17, 2009.  

GINA’s fractured assignment of responsibility and authority to develop, implement and enforce regulatory guidance of its genetic information rules can create confusion for parties involved in compliance efforts. Because the group health plan requirements of Title I of GINA are refinements to the group health plan privacy and nondiscrimination rules previously enacted as part of HIPAA, GINA specifically assigned authority to construe and enforce its group health plan requirements to the agencies responsible for the interpretation and enforcement of those original rules:  (1) the Department of Labor Employee Benefit Security Administration (EBSA); (2)  the Internal Revenue Services (IRS), and (3) the Department of Health & Human Services. 

These three agencies in early October published the interim final regulations construing the group health plan manatees of Title II of GINA, which are available for review here.  Group health plans, their employer and other sponsors, fiduciaries and service providers should act quickly to review and update their group health plan documents, procedures and other materials to comply with these new mandates.

Curran Tomko Tarski LLP Attorneys Can Help

If your business needs assistance auditing, updating or defending its human resources, corporate ethics, and compliance practices, or responding to employment related or other charges or suits, please contact Curran Tomko Tarski Labor and Employment Practice Chair Cynthia Marcotte Stamer at cstamer@cttlegal.com, (214) 270-2402, or your favorite Curran Tomko Tarski, LLP attorney.

The author of this article, Curran Tomko Tarski LLP Labor and Employment Practice Group Chair, Cynthia Marcotte Stamer, and other members of Curran Tomko Tarski LLP are experienced with assisting employers and others about compliance with federal and state equal employment opportunity and other labor and employment, compensation and employee benefit compliance and risk management concerns, as well as advising and defending employers against federal and state employment discrimination and other labor and employment, compensation, and employee benefit related audits, investigations and litigation, charges, audits, claims and investigations.

Board Certified in Labor and Employment Law by the Texas Board of Legal Specialization, Ms. Stamer has advised and represented employers on wage and hour and a diverse range of other labor and employment, compensation, employee benefit and other personnel and staffing matters for more than 20 years.  Ms. Stamer also speaks and writes extensively on these and other related matters.  See here for additional information about Ms. Stamer and her experience, here to review other recent updates, here  for other articles and publications, and review selected training and presentations here or contact Ms. Stamer directly.

For additional information about the experience and services of Ms. Stamer and other members of the Curran Tomko Tarksi LLP team, see here.

Other Helpful Resources & Information

If you or someone else you know would like to receive future updates about developments on these and other concerns, please be sure that we have your current contact information – including your preferred e-mail – by creating or updating your profile here or e-mailing this information to cstamer@cttlegal.com or registering to participate in the distribution of these and other updates on our CTT HR & Employee Benefits Update distributions in blog form via RSS feed here.  You also may be interested in staying abreast of emerging internal controls and compliance challenges by reviewing and registering for our Corporate Compliance, Risk Management & Internal Controls distributions.  For important information concerning this communication click here.  If you do not wish to receive these updates in the future, send an e-mail with the word “Remove” in the Subject to support@cttlegal.com.

©2009 Curran Tomko Tarski LLP.  All rights reserved.

Some months ago, I wrote about the importance of customer service in the life of direct-to-consumer genomic companies. After the post, Pathway Genomics contacted me and said they were excited to speak more openly about their service. They also want to educate the community on genetic testing services and what these test results will and will not tell you. Here is the interview they have recently given to me.

• Pathway Genomics is one of the newest competitors in the DTC genomics market. How do you aim to make a difference?

Quality. Pathway has a wholly owned federal CLIA and California State licensed laboratory. This onsite lab removes any “middle-man” issues. DNA samples are collected in Pathway’s custom-designed DNA collection kits and shipped directly to Pathway’s laboratory in San Diego, California. Genetic testing services, across five different technology platforms (including gene sequencing) are carried out by staff geneticists. Genetic health, lifestyle, and family history data and ancestry data are interpreted using unique algorithms developed by Pathway. Genetic test results are reviewed by medical staff and genetic counselors for accuracy and then reported via our online secure web site. When appropriate, our genetic counselors will contact customers to present and review their data. At any time, customers can contact Pathway’s Genetic Counselors for help understanding their genetic information.

Content. Pathway offers genetic testing services for both health and ancestry. As part of Pathway’s genetic health testing service, customers can learn about their propensity to develop disease, sensitivities to prescription drugs, or carrier status for mutations causing monogenic disorders. In the case of drug responses, Pathway is the market leader and reports on nearly a dozen different drug responses and adverse reactions. This includes clopidogrel (Plavix), statins, oral contraceptives, and certain cancer fighting treatments. This is important information because not all drugs are effective for all people and in some cases can cause adverse reactions.

Price. Genetic tests ordered through traditional medical outlets may be cost prohibitive for consumers. Pathway offers genetic health and ancestry testing services that are easy and affordable, with tests starting at $99. And for less than $350, consumers can access both health (drug response, carrier status, health conditions) and genetic ancestry tests.

• How many Single Nucleotide Polymorphisms do you test and how many of them do you really use for the analysis?

As of today, Pathway reports on 71 health conditions, including tests for health diseases (24), drug responses and adverse reactions (10), and carrier status (37). Pathway shares this number because this is the information we believe helps consumers choose a genetic testing service right for them. Concerning the number of SNPs tested, we do not disclose this information, as we believe this to be competitive in nature and not informative to the consumer until otherwise validated by research.

• You analyze drug responses, among other features. How accurate are these tests? I mean if you tell me I have a variance in my CYP2C9 gene, should I ask my GP to change the level of Coumadin I’ve been prescribed to?

Pathway has taken great effort to validate the accuracy and specificity of all the markers we report. Our standards exceed those required for federal CLIA certification. Therefore, you can be assured that the genotypes you receive from Pathway are highly accurate. That said, if Pathway told you that you had a genetic variation in your CYP2C9 gene that increased your sensitivity to Coumadin (Warfarin), we believe it’s important to share this information with your physician and discuss a personalized treatment plan based on this genetic data.

• I don’t totally understand the concept behind the 100% money back guarantee. If I think my results don’t represent my real genetic background properly (e.g. because my family history predicts something different), I can get my money back?

Ultimately, we want each of our customers to feel confident about the information they receive about their genetic health or ancestry tests. While some people may not “like” what they learn about their genetic information, we want to do our best in serving our customers. Therefore, if for any reason a customer is not happy with their genetic testing service we will offer them 100% money back.

• Please tell us about your plans for the near future? How do you plan to improve the service?

It’s important to continue to educate consumers, physicians, and the genetics community at large about the benefits associated with genetic testing services-specifically, what genetic testing can and can’t tell you. As the research community continues to make discoveries linking genetic variations to complex diseases, drug responses, etc., we will translate this information into an easy to understand format for our customers, thus helping to make personalized medicine a reality.

You’ve been home from the hospital for 3 days and are adjusting to life with a new baby. You’re probably dealing with all of the wonderful new things that come along with being a parent: Crying, breastfeeding issues, sleepless nights, counting wet diapers and of course worried about every little thing. You’ve already had your first trip to the pediatrician and everything looks great. In fact, everything seems fine when all of a sudden you get a phone call.

“This is the Hackensack University Hospital Genetics Department. Your baby’s genetic screening came back as a positive for a possible Organic Acidemia. We need to schedule you to bring your baby in for a blood test to confirm as soon as possible.” Genetic test? Organic what? As soon as possible?  Next, or possibly before, you get a call from your pediatrician, whom you probably just met, who tries to explain what your baby has just tested positive for. Your mind is racing and if you comprehend 10% of what is being thrown at you than you are ahead of the game. You hang up the phone, still in a daze, trying to get a handle on things, now looking at the crying baby in your arms with a whole new set of worries.

I am not a geneticist, or a doctor, and of course needed more information. So who did I turn to? Who else but Dr. Google. A quick search of “Organic Acidemia” returned some of the most horrific things you’ve ever heard of. The highlights include: very rare disorders that affect a very small percentage of babies, organic deficiencies that can lead to severe physical and mental development problems and the coup de gras: Your baby may look totally fine but could be dead within a few days. Fun stuff, huh?

If you just got one of these phone calls, or know someone who has, here are some things to be aware of.

-The false positive rates for these screener tests are pretty high. In New Jersey, where we live, they test for around 30 different genetic abnormalities. A drop of blood and urine sample are taken from your baby right before they discharge you. In New Jersey they test around 110,000 babies each year, of those, roughly 3% come back as positive for one of these genetic disorders. Only about 10% of those that test as a possible positive will end up having the disorder. Let me repeat that, 90% of the time this is a false positive. These false positive rates are for New Jersey and an aggregate from all of the genetic tests they conduct, so please check with your own state for the abnormality your baby tested positive for to get the accurate false positive rates. The point is not to get too crazy before anything is confirmed.

-Each enzyme deficiency has a very specific set of symptoms to look out for as well as a very specific prognosis. Whether it’s an Organic Acidemia or a Fatty Acid Oxidation Disorder, make sure you find out exactly what your baby screened positive for. Some of these are PKU, SCAD, Maple Syrup Urine Disease and about 10,000 others. Some are very severe while some are relatively minor. The biggest problem here is that most of these symptoms are something that all babies have: lethargy, discolored stool/urine, and lack of hunger. So try not to go too nuts, just keep doing what you are doing.

-These conditions are all pretty rare. So there is very little information out there and what is out there is mostly made up of horror stories on support sites. STAY OFF THESE SITES UNTIL YOU HAVE THE CONFIRMATION TEST. Use only sites like www.aap.org, www.webmd.com, hospital websites, or medical journals like the New England Journal of Medicine. All other information, including the information provided here, should be used for information purposes only and not considered fact until confirmed by a pediatrician or pediatric geneticist.

All in all genetic testing is a very good thing. It catches things that if caught early enough can be treated or managed. While it does cause a lot of stress and worry for people who will end up being negative( 90% in fact) the ends justify the means. If you are one of the unlucky parents who have to go through this I hope this helps and you end up being, as we were, one of the many false positives. If your baby is confirmed to have one of these disorders: be thankful that testing was done, it was caught early and know that there is hope.

Some Useful Web Resources:

List of Genetic Conditions

http://ghr.nlm.nih.gov/BrowseConditions

About Newborn Screening

http://aappolicy.aappublications.org/cgi/content/full/pediatrics;118/3/1304

http://www.webmd.com/a-to-z-guides/genetics-newborn-screening

This new federal law prohibits employers from requesting genetic testing or using genetic information in employment decisions. Insurers are prohibited from using genetic information, such as a family history of cancer, to deny coverage or set premiums or deductibles.

See the New York Times article, Law Seeks to Ban Misuse of Genetic Testing

A few weeks ago, Pauline C. Ng, Sarah S. Murray, Samuel Levy and J. Craig Venter published a quite an interesting piece  in the October 8, 2009 issue of Nature. In this publication, they had really relevant suggestions for Direct-to-consumer genomics companies such as Navigenics or 23andMe. Now, surprisingly, they two giants published an answer together:

Dear Editor:

We read with interest the Opinion piece entitled “An agenda for personalized medicine” in the October 8, 2009 edition of Nature. Our two companies, though commercially distinct with differentiated products, would like to respond to this piece jointly to show our commitment to working together in an open, transparent fashion.

Our companies agree with most of the recommendations Ng and colleagues made.  Without doubt, genotype-based risk prediction for common, multifactorial diseases is still in its infancy.  More work must be done to standardize markers used; to better explain the contribution of genetics to common, complex diseases; and to incorporate common genetic variants into clinical practice.  Each company, however, has a few points of disagreement and/or explanation it feels important to articulate.  These points from each company follow.

And excerpts from their respective answers:

Response by Navigenics:

With regard to the specific recommendations, Navigenics agrees with most of the suggestions.  For example, we agree with the authors that results showing less than average risk should not be a primary point of focus, a viewpoint that has been incorporated into our service offering in a variety of ways.

Response by 23andMe:

We would like to discuss two technical points about the article.  The authors presented these points in a relatively balanced manner but the subtleties have led to misinterpretations in subsequent media coverage.

I met with the genetic counselor yesterday–which had me imagining she would sit my DNA down in an upholstered chair, a box of tissues beside it, and try to coax it to talk about its childhood while she sat nodding, notebook on knee.

I mean, just look at this chick’s anemic little gene. She needs to eat some spinach, or something, and punch those carcinogens in the face.

Conjunction junction, what’s yr fun-ction?

Instead she talked about the BRCA mutation and Li-Fraumeni syndrome – which I had never heard of before (I thought she was saying ‘Leefah Ramini syndrome’), and which sucks a big one, holy shit; I kind of wish I didn’t know that things like this exist.

She drew up a chart of my family history, which looks like this, wherein the squares are men, the circles women, the black dots cancer and the X’s deaths. Some from cancer, others from heart disease and suicide and drug overdoses long before cancer could have caught up with them. In short, I don’t know much about my family. I only knew one of my grandparents, and barely; the others didn’t survive out of their forties. My longest-living  relatives were/are in their early 60s.

Also, there are mainly squares in there, so as far as breast and ovarian cancer goes, it’s hard to say.

Still, it’s strange to see people reduced to a geometrical map, crossed out with a callous pencil scratch, black dots like small deaths. I sat thinking of Mendel’s pea plants and the genetic traits surveys we did in eighth grade (when I discovered I have one bent thumb and one straight; even then I knew I was a freak), wondering what genetic death wish sat inside me.

Here’s a big surprise: my ‘insurance’ doesn’t cover the three thousand dollar test.

Three. Thousand. Dollars.

But here’s a big surprise, without a trace of sarcasm: the good people of UPMC are picking up the tab with research grant money. To express my gratitude, I let them take five additional vials of blood and peed in a cup for them.

The results–which have a 7% chance of coming back “indeterminate”–come in three weeks. My blood’s being sent out to Utah as we speak. There is only one lab in the country that performs these tests, she told me, because they have a patent on the genes.

A patent on the genes. BRCAnalysis®.

Yeah, I did a Scooby-Doo double when she said that. Arrrrr?

I’m not the only one who consideres this “illegal and unconstitutional,” as the ACLU has taken them to court over it.

According to the lawsuit, Myriad’s “monopolistic control” over its BRCA genes hampers clinical diagnosis, serves as a disincentive for research, and allows the company to charge upwards of $3,000 for testing that many women cannot afford. As a result of these practices, “patients whose tests come back with inconclusive results do not have the option to seek additional testing elsewhere,” the ACLU charges.

You think?

No matter what the results are, right now they’re solely for my own information. I’m keeping my left breast and my ovaries, and all the other bits, for the time being. Maybe that seems like I don’t set my life at a pin’s fee. Maybe I don’t, really. All I know is, I need to catch my breath.*

*When I first typed that, I wrote, “I need to catch my breast.”

Dear God. Maybe I need the upholstered chair and tissue box after all.

A recent GWAS study identified the 3′ region of the liver- (not brain) expressed PECR gene (rs7590720(G) and rs1344694(T)) on chromosome 2 as a risk factor for alcohol dependency.  These results, as reported by Treutlein et al., in “Genome-wide Association Study of Alcohol Dependence” were based on a population of 487 male inpatients and a follow-up re-test in a population of 1024 male inpatients and 996 control participants.

The authors also asked whether lab rats who – given the choice between water-based and ethanol-spiked beverages over the course of 1 year – showed differential gene expression in those rats that were alcohol preferrers vs. alcohol non-preferring rats.  Among a total of 542 genes that were found to be differentially expressed in the amygdala and caudate nucleus of alcohol vs. non-alcohol-preferring rat strains,  a mere 3 genes – that is the human orthologs of these 3 genes – did also show significant association with alcohol dependency in the human populations.  Here are the “rat genes” (ie. human homologs that show differential expression in rats and association with alcohol dependency in humans): rs1614972(C) in the alcohol dehydrogenase 1C (ADH1C) gene, rs13273672(C) in the GATA binding protein 4 (GATA4) gene, and rs11640875(A) in the cadherin 13 (CDH13) gene.

My 23andMe profile gives a mixed AG at rs7590720, and a mixed GT at rs1344694 while I show a mixed CT at rs1614972, CT at rs13273672 and AG at rs11640875.  Boooring! a middling heterozygote at all 5 alcohol prefer/dependency loci.   Were these the loci for chocolate prefer/dependency I would be a full risk-bearing homozygote.

We all know about the Personalised Medicine Coalition:

The Personalized Medicine Coalition (PMC) is an independent, non-profit group that works to advance the understanding and adoption of personalized medicine for the ultimate benefit of patients. Our diverse members work together to educate opinion leaders and the public about the issues that will shape how personalized medicine develops — and how quickly all of us can benefit from it.

Now I was glad to see the European Personalised Medicine Diagnostics Association just launched as reported by GenomeWeb.

Made up of biotechnology firms, academic and institutional researchers, small and large businesses, and patient advocacy groups, the European Personalised Medicine Diagnostics Association (EPEMED) announced its board of directors this week. Included on that board are executives from Ipsogen, Genzyme Genetics, Oncomethylome Sciences, the Personalized Medicine Coalition, BioMerieux, Theranostics, and Novartis Molecular Diagnostics.

EPEMED says its central goals are to move personalized medicine forward throughout Europe through targeted education, idea-sharing, and business models, and to promote harmonization in Europe’s approach to personalized medicine.

pointer to: Eye-on-DNA’s post of last nights episode of “Lopez Tonight” where Larry David shared the unveiling of his “Ancestry-by-DNA” results.  He was good sport and it was great to see science as FUN.  His results made me wonder if such ancestry tests are reliable though.

It feels like so much more than just five years have passed.  I think I look older than 30.  I definitely feel older than 30.  Yesterday, my mother would have turned 61.  It was a harder day than I thought it would be.  As each anniversary has passed, I have never been able to anticipate how I’d react.  Perhaps if I’d built something more than just a blog, I’d feel like a better activist, like I’d accomplished something in the face of CJD.  But in the first five years, that was not for me.  This experience five years ago was so bad for me that I’ve only begun to really heal.  When a second death followed in our family last year as my uncle passed, the second blow was dealt.  I never thought another family member would go so soon.  We truly are not blessed with time in this E200K family.

I realize how lucky we are that there is no doubt their deaths were genetic.  We don’t have to live with the guilt other families do thinking it was something they did environmentally or something they ate. We have my mother’s autopsy results; there are no mysteries.  But, on the other hand, we live with the genetic threat.  Having a time bomb ticking in our veins is probably worse than wondering if it was a meal we had in 1986 when the world was pretty ignorant to this…

Each day I wrestle with bizarre thoughts about getting tested, not getting tested, what triggered it in my mother, how I can prevent it in myself…which of us will go next.  I wonder why my mother’s father is still alive at this age.  I wonder why we were so ignorant when we were told his brother had died of “mad cow disease.”  I wonder what year it will be when we solve the prion disease puzzles that baffle us. I wonder if my generation will grow to be old before it hits us, like my grandfather’s generation.  Or will we be like my mother and uncle and go in our 50s?  Will we all be so lucky as to be negative for the marker?  I wonder if something I know or have witnessed in all this is some doctor’s answer to finding the cure.  I wonder if I should adopt instead of having biological children.  I wonder if it’s fair to die and leave children behind; at least I’m 30, so any time after this if I have kids, I would be leaving adult children behind.  These are the things I think about.  This is my life.

I’d be remiss if I didn’t say that there are days when I don’t think about it at all.

CJD is a lens through which I’ve seen life differently.  This has taught me many life lessons that I wanted to or was prepared to learn in my 20s.  I know I have a deeper, more intense focus on life than others do because of it.

So that’s five years.  This is where I’m at.  I’m taking some time to relax as this year ends since I’m off from Boston University right now.  It’s my first real break in a long time.  Usually I have two jobs plus school going at once.  It’s nice to be able to have school off my plate.  I have one final class in January before I graduate.  One of my promises to my mother as she lay dying was that I was going to finish my college degree.  In 2010, with my bachelor’s degree finally complete, I can focus on other things, like doing my part for the cause of curing CJD.  For now, I will just continue to blog and raise awareness.

The story of my mother, of our family, has touched one life at a time.  CJD doesn’t get nearly as much press as the sexier diseases like cancer.  People still associate it with b.s. like it’s an old person’s disease or that it is rare, or that it can’t happen to their family.  People think it’s still something only a few hundred people a year die from, so it’s not that important.  Well, if those 300+ people who died this year aren’t important to you, well, I can’t help what kind of person you are.  But that’s 1,500 people (at least) in the U.S. who have died, including my mother and uncle, since five years ago began on this day in 2004.

Those 1,500 lives lost matter to me.  They matter to us all.

RIP Phyllis Larson, November 9, 1948-November 10, 2004.

The neuregulin-1 (NRG1) gene is widely known as one of the most well-replicated genetic risk factors for schizophrenia.  Converging evidence shows that it is associated with schizophrenia at the gene expression and mouse model levels which are consistent with its molecular functions in neural development.   However, in several recent genome-wide association studies (GWAS), there appeared nary a blip of association at the 8p12 locus where NRG1 resides.  What gives?

While there are many possibilities for this phenomenon (some discussed here), the recent paper, “Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population” by Maaike Alaerts and colleagues, suggest that the typical GWAS study may not adequately probe genetic variation at a fine enough scale – or, if you will, use a netting with sufficiently small holes.  By holes, I mean both the physical distance between genetic markers and the frequency with which they occur in populations.  While GWAS studies may use upwards of 500,000 markers – that’s a pretty fine scale net for a 3,000,000,000bp genome (about 6,000bp apart) – Alaerts and colleagues set forth with slightly finer-scale netting.  They focus on a 157kb region that is about 60kb upstream from the start of the NRG1 gene and construct a net consisting of 37 variants between the markers rs4268087 and rs17601950 (average spacing about 5kb).  They used the tagger program to select markers that account for all haplotypes whose frequency is higher than 1.5%.  Thus – even though there are still more than 500 possible snps in the region Alaerts and colleagues are exploring, they are using a slightly finer netting than a typical GWAS.

The results of their analysis (using GENEPOP) of 486 patients and 514 ethnically matched control participants from northern Sweden did reveal significant associations in an area slightly downstream (about 50kb closer to the start point of the NRG1 gene) than the location of the “previously often replicated variants”, suggesting that the region does confer some risk for schizophrenia, but, that diagnostic markers for such risk will be different for different populations.  More telling however are the very weak effects of the haplotypes that show significant association.  Those haplotypes with the most significance show meager differences in how often they are observed in patients vs. controls.  For example, one haplotype was observed in 5% of patients vs. 3% of controls. Others examples were, 11 vs. 9, 25 vs. 22 and 40% vs. 35% – revealing the very modest (krill sized) effects that single genetic variants can have in conferring risk toward mental illness.

However, there are potentially lots of krill in the genomic sea!

The Envirionmental Protection Agency estimates 30 percent of buildings in the United States are contaminated with mold neurotoxins.  Aspergillus, Fusarium and Stachybotrus molds can all produce fatal neurotoxins.  Deadly peanut allergies are caused by fungal Aflatoxins.

Florida Detox and Wellness Institute offers testing and treatment for mold neurotoxicity, which can cause disability and hundreds of symptoms, including addiction, anxiety, depression,  fatigue, irritibility, fibromyalgia, attention deficit disorders, immune suppression, headaches, including migraines, cancer and many other disorders.

We are excited to be able to offer testing for Ochratoxin, Tricothecene and Aflatoxin mold neurotoxins, in addition to genetic testing for increased sensitivity to Lymes Disease and mold neurotoxins.  Twenty four percent of the population possesses specific HLA DR DQ genetic patterns, which reduce their ability to clear mold neurotoxins over 400 percent, compared to the other seventy six percent of the population, which does not genetically clear mold neurotoxins more slowly.  This explains why only a minority of us are affected by sick building syndromes, caused by mold contamination.

Steven Sponaugle, Research Director, Florida detox and Wellness Institute

www.floridadetox.com

Leviticus, Chapter 13

⁴⁷ “If any clothing is contaminated with mildew—any woolen or linen clothing, ⁴⁸ any woven or knitted material of linen or wool, any leather or anything made of leather- ⁴⁹ and if the contamination in the clothing, or leather, or woven or knitted material, or any leather article, is greenish or reddish, it is a spreading mildew and must be shown to the priest. ⁵⁰ The priest is to examine the mildew and isolate the affected article for seven days. ⁵¹ On the seventh day he is to examine it, and if the mildew has spread in the clothing, or the woven or knitted material, or the leather, whatever its use, it is a destructive mildew; the article is unclean. ⁵² He must burn up the clothing, or the woven or knitted material of wool or linen, or any leather article that has the contamination in it, because the mildew is destructive; the article must be burned up.

⁵³ “But if, when the priest examines it, the mildew has not spread in the clothing, or the woven or knitted material, or the leather article, ⁵⁴ he shall order that the contaminated article be washed. Then he is to isolate it for another seven days. ⁵⁵ After the affected article has been washed, the priest is to examine it, and if the mildew has not changed its appearance, even though it has not spread, it is unclean. Burn it with fire, whether the mildew has affected one side or the other. ⁵⁶ If, when the priest examines it, the mildew has faded after the article has been washed, he is to tear the contaminated part out of the clothing, or the leather, or the woven or knitted material. ⁵⁷ But if it reappears in the clothing, or in the woven or knitted material, or in the leather article, it is spreading, and whatever has the mildew must be burned with fire. ⁵⁸ The clothing, or the woven or knitted material, or any leather article that has been washed and is rid of the mildew, must be washed again, and it will be clean.”

⁵⁹ These are the regulations concerning contamination by mildew in woolen or linen clothing, woven or knitted material, or any leather article, for pronouncing them clean or unclean.

Yesterday, the geneticist called with my test results. It turns out, I am also a carrier of Smith-Lemli-Opitz.

Apparently 1/30 people are carriers. The chance that two carriers would reproduce together is 1/900. When you add to that mix the 75% chance each pregnancy will not be affected, the odds become small that a baby will be born with this genetic disorder. Somehow, we were the 1/900, and then Madelyn was the 25%. Of course, Madelyn wasn’t tested directly so they can’t say with absolute certainty she had Smith-Lemli-Opitz Syndrome (“SLOS”). However, as we are both carriers and all the symptoms matched, we can be very reasonably sure.

For those of you who (like me) don’t remember how genes work, here is a bit of a refresher. Every person has recessive genes and dominant genes. In our case, we each have one unaffected dominant gene, and one recessive gene with the SLOS mutation. Our children will get one gene copy from each of us. So, a baby could get the dominant gene from each of us, the dominant gene from me and the recessive gene from Nathan, or the recessive gene from me and the dominant gene from Nathan. In each of these three cases the baby would be unaffected, which is where the 75% chance comes in (25% chance for each of the three). Then, there is the 25% chance the baby will receive a copy of each of our recessive genes, and in this case the baby will be affected. Most people never know they are carriers of something until or unless they have a child that is affected. Things can be passed down for centuries of family history and never appear. This site has a nice chart that shows what I have just described.

On one hand, I am glad we know a reason. I no longer have to wonder if it was the ham I ate on Easter Sunday, or toxoplasmosis from my cat, or the face cream I was using before I realized some of the ingredients weren’t recommended during pregnancy. I can no longer blame something I did during pregnancy. However, I cannot say I don’t feel at all responsible. Our genes were harmful to our baby. I realize there is no way we could have known beforehand, but it still is a bit disturbing.

On the other hand, I hate what this means for future pregnancies. Although it is good to know this information, it means the problems with Madelyn were not a fluke.

A few options exist that can be done in conjunction with in vitro fertilization (“IVF”), but we’re not sure about them. One option (PGD) involves pre-screening of embryos and implantation of embryos that are unaffected. However, any embryos that are affected would be destroyed, as they would not be eligible for donation to other families. Another option (CGH) involves the screening of eggs before using them to create an embryo. This option is more appealing to us, but I do not know if SLOS is on the list of things CGH can pre-screen.

We also have the option to adopt. We could adopt a baby that is already born, though waiting lists are usually long for this. Our next pregnancy could also come through embryo adoption/donation.

PGD, CGH, and embryo adoption all would be used in conjunction with IVF. So our next step will be to make an appointment with a reproductive endocrinologist (“RE”) to explore our options, though I’m not sure when we will do that.