by | May 19, 2010 · 6:57 AM

Happy Birthday to The DNA Exchange!

Celebrating one year and 50,000 views with our first Giveaway!

The DNA Exchange is celebrating it’s one year blog-o-versary today!  In acknowledgment of the big day, we would like to thank our amazing readers and guest bloggers who have participated in our ongoing conversation on topics that affect genetic counselors and our patients.

To celebrate, for the next 72 hours any reader leaving a comment on this post will automatically be entered to win our DNA EXCHANGE birthday giveaway: a set of Watson and Crick bobblehead dolls. Yup, it’s true. Watson and Crick bobbleheads! Be the envy of your friends and co-workers!

To enter, just leave a comment below with your suggestions for future topics, an idea for the next snap poll or simply some feedback about our little blog, and you could be the proud owner of a pair Watson and Crick bobbleheads! A winner will be randomly chosen at 5pm EST on Friday, May 21. We will announce the winner first thing Monday morning.

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by | May 14, 2010 · 7:14 AM

Genetic tests now sold in drugstores! Or not.

as posted on herNaturehisNurture

Well, it has been quite a week in the world of genetic testing! For those who haven’t been following the gene drama (or haven’t been able to keep up), I’ve provided a summary of the week’s events below.

Monday, May 10 Pathway Genomics’ test is considered a ‘device’ by FDA

The FDA Office of In Vitro Diagnostic Device Evaluation and Safety, sends a letter to James Plante, CEO of DTC company Pathway Genomics Corporation, pointing out that Pathway’s “Genetics Health Report” product appears to meet the definition of “device,” and therefore requires an FDA clearance/approval number. They request that their approval number be provided. [Of note, Pathway DTC genomic testing has been available online since July 2009].

Tuesday, May 11 Washington Post runs story about gene tests being sold in drugstores

The Washington post runs the story that personal genomic testing company Pathway Genomics was getting set to offer their genetic testing kits at Walgreen drugstores across the country.

Beginning Friday, shoppers in search of toothpaste, deodorant and laxatives at more than 6,000 drugstores across the nation will be able to pick up something new: a test to scan their genes for a propensity for Alzheimer’s disease, breast cancer, diabetes and other ailments.

The NSGC promptly responds, issuing this Policy Statement (pdf):

“Distributing genetic testing through pharmacies will expose more people to its availability. However, people should first meet with a genetic counselor to determine whether genetic testing is right for them and to prepare for what they might learn,” said Elizabeth Kearney, NSGC’s president.

Daniel Vorhaus of the Genomics Law Report was quick to comment on the news, and published an impressive compilation of media and blogger reactions to the developing story.

Wednesday, May 12 Walgreens revokes decision to sell Pathway’s test in stores

Media outlets continue to follow the story, and FDA officials become increasingly vocal about their lack of support for the retail genetic test kit. Late Wednesday night, news breaks that Walgreens has decided they are revoking their decision to stock the genetic testing kits in stores.

In a statement, Michael Polzin, a Walgreen spokesman said, “in light of the FDA contacting Pathway Genomics about its genetic test kit and anticipated ongoing discussions between the two parties, we’ve elected not to move forward with offering the Pathway product to our customers until we have further clarity on this matter.”

Thursday, May 13 Pathway Genomics and others respond

Pathway Genomics issues a press statement acknowledging the weeks events and the genetic counselling services they provide:

We respect and understand Walgreens’ decision and we are communicating with the FDA about the Pathway Genomics InsightTM collection kit…We believe it is very important that anyone interested in a personal genetic test understand the information that will be contained in his or her report. That is why we have on staff Board certified/eligible physicians and genetic counselors that are available to speak with customers about their reports. We also encourage anyone considering purchasing a Pathway product to speak with our counselors.

Others continue to weigh in on the issue. Notably, Dan Vorhaus helps elucidate some of the complex issues surrounding regulation of direct-to-consumer gene testing and points out that personal genome tests are already available through retail outlets, such as 23andMe tests being sold through Amazon.com. The NSGC public policy blog provides a good summary of the issue from a genetic counselor perspective.

Friday, May 14

So here we are, Friday morning, the day that Pathway’s tests were scheduled to hit drugstore shelves. But instead of curious consumers flocking (or not flocking) to their local Walgreens, we are instead right back in the middle of a DTC regulation debate. A debate that seems to me to be incredibly reminiscent of June 2008, when the California department of Public Health issued “cease and desist” orders against 13 DTC companies. I look forward to watching how this plays out.

—-

Beyond the actual events of this week, what has been so incredible to me is the quick response and coverage of this story within the genetic counseling community. Because I don’t work in a position where I can monitor twitter, I have relied heavily on the NSGC listserv this week in keeping up on the breaking news. So a big thank you to all those who kept the community up-to-date using this private forum. And I’m impressed with the speed at which the NSGC position statement and public policy blog post were put together. If this same situation had occurred a year ago, I highly doubt the public response from the GC community would not have been so urgent or visible.

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by | May 13, 2010 · 7:20 AM

Guest Post: The Counselor Intimidated: A Professional and Personal Experience with Genetic Counseling

By Aimee Tucker Williams

Aimee Tucker Williams is a board certified genetic counselor.  She spent 8 years as an Assistant Professor at The University of Texas Medical School at Houston and was a major contributor to their Genetic Counseling Program prior to a geographically forced retirement.  Aimee is now a Professor of All Things Mom to her daughters, ages 4 and 2, and once again lives in Houston.

______________________

I remember my first abnormality as a genetic counseling student.  It was a routine AMA case that I hadn’t put much thought into….because by then I had done about 20 AMA sessions and aren’t they all the same?  The woman was 38 years old and had the kind of shrewd and steely exterior of many of the patients I encountered in my briefly adopted home of Chicago.  I didn’t have any sort of empathetic connection with her and frankly, she intimidated me, so I happily went on my way post-session, warm in the knowledge that I would never see this person again.  Well, as seems to happen more often than not, the patient that intimidated me became the patient that was carrying a pregnancy diagnosed with Trisomy 18.  She was the patient that I would have to call and inform of this news, the first patient that I would have to counsel and console.

I was petrified.  After a number of failed attempts to complete the phone call, I forced myself to dial her home number and prayed that she wouldn’t pick up the phone.  She did.  I stammered my way through the initial disclosure of information. While I don’t remember the words I used to convey the news, I remember their seeming pitifully inadequate for the situation at hand.  And while I barely remember my further interactions with this patient, I know that I counseled her regarding the diagnosis, potential outcomes and options.  What I do remember is that although I felt some compassion for this person and what she was going through, I felt very little empathy.  I watched her leave the session thinking, “thank goodness that is over for me.”  My fear of this woman prevented me from giving her what she needed, and although I knew that and regretted it at the time, my concerns were centered more strongly upon my own personal relief.

Flash forward 10 years later. I am pregnant with my second child and will be AMA at delivery.  My family and I are living in Brazil at the time, where abortion is illegal and amniocentesis is not routinely offered to anyone under the age of 38.  My ob/gyn is reluctant to schedule me for an amniocentesis despite my urging and so, I take matters into my own hands and schedule myself for genetic counseling and a CVS during a serendipitously planned trip to the U.S.  I am frankly excited to go through the entire process, and while my husband’s knowledge of genetics has been extensively developed by osmosis after years of hanging out with counselors and their spouses, he still deserves to get the whole “spiel” prior to testing.

While you could never call me steely and I can only use the word shrewd to describe myself in relationship to bargain hunting, I strangely found myself in the shoes of my first abnormality patient that day.  Apparently the counselor who had been given our chart that morning had not been informed that I was a colleague.  The counselor (who I will call “C”) was a recent graduate and did a wonderful job of giving us the pertinent genetic information; but I could sense that “C” was intimidated by me as I was by my patient years ago.  I could practically hear “C” breathe a sigh of relief as we left the office, thankful that that session was over.  Unfortunately for my husband and me, our genetic experience was not destined to be over.  About a half an hour later, we found ourselves in a darkened ultrasound room quickly, and dare I say, shrewdly, making the decision to terminate a much wanted pregnancy.  The baby had a lethal birth defect and we knew, as we had always known, that we would not continue a pregnancy in that situation.  The MFM did his best to help us coordinate a termination during our short visit, and when he couldn’t, we asked to be shown to a room where we could make some phone calls and arrange for a termination in Houston, our next stop in our US visit.

The first person I spoke to after being shown into a consultation room was a genetic counselor.  I called my colleague and friend in Houston and, for the first time since being given the heartbreaking news, cried out my pain and disappointment over our loss.  She and others arranged for our termination procedure later that week and supported me as friends and genetic counselors do.  I never saw our genetic counselor again.  I don’t know why “C” never came to see us.  It could be that the MFM felt we had already been served as we had made our decision regarding termination and “C” agreed.  It could be that “C” was never told about the abnormality.  Or, as I fear, it could be that “C” was so intimidated by counseling someone more experienced than themselves, that we were left alone with the rationalization that I clearly had the bulk of the information I needed to handle this situation.

The thing is…we didn’t have the bulk of the information. At that moment, all we had was grief.  All we had was sadness, followed by numbness, followed by the surreal experience of being pregnant with a baby that in a few days time would be removed from my body because of the results of a half-hour ultrasound procedure.  I spent the next few days visiting with family and friends, taking my husband and daughter sightseeing and suffering from continued morning sickness, all the while reminding myself that I was no longer pregnant with a baby we were going to have.  We went through the gamut of emotions and experiences I had only heard or read about in my 10-plus years of experience, and likely had some unique experiences as well.  But, we never had anyone sit us down and lay all of the genetic information that went along with our baby’s diagnosis.

A week later, after all had been said and done, it finally occurred to me to do research on the Internet regarding the diagnosis we had been given.  I was mortified to realize that the anomaly, which I had immediately assumed to be of multifactorial inheritance, could be suspected in both an autosomal recessive condition and in a sporadic one with a fairly decent recurrence risk due to gonadal mosaicism.  My first reaction to this news was anger at myself; why hadn’t I thought of these possibilities!  My second reaction was fear for our future; would we want to attempt another pregnancy unarmed, so to speak?  My third reaction was anger at the MFM; why didn’t he continue the scan to the best of his abilities, ruling out any further abnormalities that may signal a condition with a sizeable recurrence risk?  To this day, I have never been angry at the genetic counselor.  Should I have been?

No, I can’t be angry at “C”; if I were, I would have to be angry at myself for past sessions where I was the “counselor intimidated.”  What I can hopefully be is helpful, by reminding my colleagues that even the intimidating patients can benefit from the most basic of counseling strategies. Simply walking into the room and telling the patient that you are truly sorry for the situation they are facing is more beneficial than you realize.  Every patient will do what they will with this statement…some may say thanks and shut you out, some may cry inconsolably, some will ask you to stay and support them.  The point is, you were there for them in whatever capacity they required and this is nothing for you to fear.  Speaking from a more logistical (and legal) standpoint, remembering that you are responsible for giving every patient the genetic information they need in a way that they can hear it is key.  Ultimately, you are responsible for recurrence risks and you must find a way to get that information across.  I can guarantee you that in a matter of a couple days, weeks or months, that patient is going to wake up one morning and say to herself, “Could this happen again?”  Lastly, you must never assume a thing about your patient’s needs.  You could have a Nobel Prize winning geneticist sitting in front of you, and they will still require you to lay out their pertinent genetic information in a manner appropriate to their situation; you may someday counsel a vocal pro-life politician who would consider termination if placed in the position we were in.  You just never know what to expect.

We are fortunate to be in, and constantly challenged by, a field that gives us a unique opportunity to help hapless individuals, such as myself, navigate the unexpected. But the unexpected can do crazy things to us and to our patients.  While the points I raise above sound fairly simple, they can sometimes be forgotten when confronted by a patient who pushes our own personal “fear” buttons.  I was that patient, and I have to say that the fear I felt while sitting in that ultrasound room was monumentally greater than any fear I ever felt as a counselor.  Hopefully our story will help you to keep this in mind during your practice.

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by | May 3, 2010 · 7:01 AM

Listening to our patients online

When I was in the first semester of my genetic counseling program, a family friend met with a GC for advanced maternal age counseling. This friend was completely dissatisfied with the experience, claiming that the counselor tried to talk her into doing an amniocentesis and only talked about the option of terminating affected pregnancies. I knew there was no way the GC (who remained anonymous to me) would have tried to talk the patient into choosing an amnio, and I knew she would have presented multiple options about what to do with the information. But, regardless of the GCs intention to present the information in a straightforward and unbiased manner, it had clearly not been perceived that way. A big problem with this scenario is that the GC involved never knew how the patient perceived the information that she relayed.

About a year ago, I set up a google alert for the terms “genetic counselor” and “genetic counseling.” Since then I’ve had patient recounts of their GC experiences delivered to my inbox every week. What an incredible resource this has turned out to be.  For example, I recently read a woman’s blog post titled “Details, Follow-up, Ultrasounds, and the Awfully Scary Genetic Counselor.” As the woman describes:

We entered the building and I filled out the appropriate paperwork in the small office, then a woman came out to get us. She introduced herself as a genetic counselor who would do a consult with us. I’d always wondered what a genetic counselor does. After asking us in a you-are-so-fragile tone, “Do you know why you are here?” she took family, healthy, and pregnancy histories and spent the next twenty minutes scaring the crap out of us.
She continues,
Diseases! Defects! Disorders! SO MUCH CAN GO WRONG WITH ANY BABY OMG! Risks! Tests! Fractions! Screenings! It was quite unsettling and a bit disturbing. As Mike said later, “She scared me out of ever having children again.” It seemed as though the point-of-view was: Unless proven otherwise, every baby has a problem.

In reading this, I remember distinctly having the exact same feeling while I was in school.  I remember talking with my classmates, all of us thinking the same thing: “with all the things that can go wrong, it’s a wonder a healthy baby is ever born.” I was also struck by how I hadn’t thought about this feeling in quite a while. It was an important reminder for me.

While the examples I give above are both somewhat negative experiences, there are positive patient accounts out there too. What better way for students to learn, teachers to train and experienced GCs to grow professionally than to read first-hand experiences from our patients?

—

A growing number of professions are now listening to their consumers online conversations, and learning from them:

Listening means finding the online social spaces where your audience is already communicating, monitoring the conversations that happen there, and gathering intelligence you can use to better understand your audience. Because social media is open and public by nature, listening is not only welcome — it’s expected.

So my questions to the GC community are:

  1. Should we be listening to these conversations?
  2. If so, how can we best harness this information and use it as a learning resource?

 

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by | May 3, 2010 · 4:15 AM

Social Media as Support Resources

Some of you may remember a post I made a few months ago, Emerging Technology vs Old School. I discussed briefly how we have to find ways to incorporate technology into our profession in positive ways.  I also touched on how we cannot forget that there are people who do not have access to technology and they ARE getting left behind.

We cannot ignore either group.  How can we make sure both groups have access to the same information but in different ways?  This is not the main focus of this post.  I just wanted to remind readers that even though in this post I focus on resources that are more available to people who have access to technology, we must not forget that not everyone has access.

Facebooking, Twittering, and Blogging are what I think of when I think of social media.  Facebook groups can serve as support groups.  Blogs can serve as an excellent way to share thoughts and emotions.  Twitter can help connect people going through similar situations.

Since I have Google alerts set up on my Google readers I oftentimes run across blogs written by people who have experienced genetic counseling or have children with genetic conditions.  I have found that reading strangers’ blog posts about their daily life with a genetic condition and their perspective of genetic counseling has taught me so much more than I could ever learn from reading a textbook.

I get their honest opinion.  I learn how misconceptions develop.  I learn about different attitudes and perspectives.  I learn more about people’s thought processes.  This allows me to see their situation from their point-of-view which in turn helps me as a genetic counselor.  An example of a powerful blog website is, CaringBridge.

CaringBridge is a blog website that “connects family and friends when health matters the most.”

“Human connection. That’s the heart of the CaringBridge experience.”

I have read several CaringBridge blogs written by parents with children who have a genetic condition.  I have also read CaringBridge blogs written by people with genetic conditions.  I have read personal stories about how many families are thankful for CaringBridge blogs.  It allows them to share news with concerned ones without having to worry about making multiple calls.  It allows them to express personal thoughts through writing that they may not normally express which helps with the coping process.  It also allows them to find other people who are going through similar situations as they are.  It makes people feel less lonely during scary times.

If used correctly, social media could be a great support resource for patients.   Social media should NEVER replace actual information or serve as a sole resource.   They should simply serve as support resource in the same sense as recommending books and connecting patients who may be going through similar situations.

Would you (or have you) ever suggest social media as a form of support resource for your patients?   How do you make sure it’s appropriate for your patient?

Would you ever use social media as a teaching tool for yourself or for genetic counselor students?  If so, how do you do this?

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by | April 11, 2010 · 8:55 PM

The Great Genetic Counseling Divorce of 1992: A Historical Perspective On Change In The Genetic Counseling Profession

The advent of online genetic testing has spurred thoughtful and passionate debate  about the best way to deliver genetic counseling services. It is a polarizing issue with good arguments on both sides. The discussion recalls events that played out nearly twenty years ago – events that were critical to the development of the genetic counseling profession. Counselors young and old have much to learn by re-visiting this history.

In 1992, genetic counselors and medical geneticists were intertwined like the strands of a double helix. Most genetic counselors worked closely with medical geneticists. Even prenatal counselors often worked with obstetricians who were also board-certified medical geneticists. For the previous decade, professional certification of genetic counselors and medical geneticists had been overseen by the American Board of Medical Genetics (ABMG).

In 1991, ABMG petitioned the American Board of  Medical Specialties (ABMS) for the creation of an American College of Medical Genetics (ACMG).  Medical geneticists had much to gain in prestige and reimbursement by joining ABMS. ABMS agreed, with one huge provision – only doctorate level professionals could be accredited, effectively excluding genetic counselors from the deal. It felt like we were being sold out for a fistful of dollars.  How could we exist without the support of medical geneticists? Remember, this was well before the availability of other employment opportunities for genetic counselors that we now take for granted, such as in oncology, neurology, cardiology, or DNA testing laboratories. It appeared to be the end of the genetic counseling world as we knew it.

ABMG by-laws required a membership vote, and 2/3 approval from the membership was necessary for the motion to pass. Because genetic counselors made up about 40% of ABMG membership,

a united block of genetic counselors could stop the restructuring. Strong feelings on both sides made for tense moments. Genetic counselors were at odds with medical geneticists, and sometimes even with other genetic counselors. Professional relationships withered from the heated arguments. Both sides were armed with lawyers. Assets needed to be divided. It was not pretty (although the NSGC listserv is a wonderful resource, I am half-relieved it was not operating in 1992). Even now, I suspect this issue still raises ghosts of bad feelings, and some broken friendships have never healed.

When the vote finally came in 1992, ABMG membership approved joining ABMS, 977 in favor and 200 against. Fortunately, wiser heads prevailed. Ed Kloza, Ann Walker, and a few other unsung heroes negotiated a separation deal with ABMG and guided us through the birthing pains of establishing a new professional identity.

We felt like teenagers who had been kicked out of the house. Maybe our parents didn’t want us, but now we could be independent and grow up on our own. We were young and bright, with a bit of drag strip courage and a world of potential in front of us. Many genetic counselors continued to work in traditional settings and maintained close relationships with medical geneticists. But, freed from the bonds that tied us to medical geneticists, we were captain of our own ship, ready to set sail on uncharted professional seas.

The American Board of Genetic Counseling (ABGC) was incorporated in February, 1993. ABGC and NSGC are now firmly established as critical leadership organizations for genetic counselors. New employment opportunities unfolded like the wings of a butterfly emerging from a cocoon. The genetic counseling profession is now entrenched in the daily practice of medicine, and our services are sought by many medical specialties. The separation of genetic counselors from ABMG proved to be the best thing

that ever happened to North American genetic counselors.

Medical geneticists on the other hand, were more cautious. I suspect that they were still caught up in the traditional model of medical genetics service delivery and did not respond as quickly to changes in genetic technology. They are just now starting to catch up with genetic counselors in establishing working relationships beyond pediatrics and obstetrics.

Here we are in 2010 with new service models presenting themselves. As it was in 1992, our profession is torn by these issues. I do not know what the right answer is. But opportunity is knocking and asking us to take another journey with unfamiliar travelers. We can head down this uncertain path – or we can be left standing at the door.

For more on the ABMG restructuring, see:

“ABGC incorporates” Perspectives in Genetic Counseling 1993;15(1):1

Gettig B “Restructuring of ABMG: NSGC to move toward healing; vision” Perspectives in Genetic Counseling 1992/3;14(4):3

Epstein CR “Editorial: Organized Medical Genetics at a crossroad” American Journal of Human Genetics 1992;41:231-4

Heimler A, Benkendorf J, Gettig E, Reich S, Schmerler S, Travers H “Opinion: American Board of Medical Genetics restructuring: make an informed decision” American Journal of Human Genetics 1992; 51:v-viii

Kloza EM “ABMS report…evaluating the counselors’ status” Perspectives in Genetic Counseling 1992;14(1):7

Restructuring Committee “Review and update of ABMG status” Perspectives in Genetic Counseling 1992;14(2):1

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by | March 31, 2010 · 9:37 AM

Sweet!! The Judge Rules on the Myriad Patent Case

On Monday, Judge Robert Sweet of the Federal District Court in Southern New York shocked the world by ruling against Myriad Genetics, invalidating claims with regard to patents on BRCA 1 and 2.  This morning, the genetic counselors, oncologists, patients and their families as well as other interested parties like patent lawyers and venture capitalists are wondering: what does it mean, really?

 The ACLU and other parties sued Myriad in 2009, claiming their patents interfered with medical care for families concerned about hereditary breast and ovarian cancer by stifling innovation that might lead to better tests and denying them access to an alternate lab to double check or compare results.  In addition, the lawsuit challenged the idea of gene patenting, suggesting that DNA sequences were a part of nature and that they were discovered rather than invented, and therefore were not in their essence eligible for patenting.  For their part, Myriad maintained that the patent covered not DNA as it appeared in nature, but the isolated gene product that was tested in the laboratory.  This is concept – that purified or isolated DNA is effectively a chemical made by man — underlies many, many patents granted over the past 20 years or so, and Myriad was widely expected to win the case easily.

 But they did not.  Not to get too carried away – the case will be appealed and all the same experts who predicted that it would be dismissed are now predicting that it will be overturned.  But were it to stand, would it change the facts on the ground for consumers of BRCA 1 and 2 testing?  The short answer is, probably not.  The ruling struck down parts of 7 patents relating to BRCA testing; Myriad holds an additional 16 patents on BRCA testing (this might shed some light on the bewildering fact that there are over 40,000 patents on human genes, meaning that gene patents outnumber genes by a factor of nearly two to one).

 Still, the ruling is likely to have a profound effect long term, as it puts industry and investors on notice that the law surrounding patent protection of genes and gene tests is far from settled.  One question that has been debated since the beginning of this lawsuit is whether or not patents on gene sequence (or their moral equivalent, patents on cDNA sequence, which the judge correctly identified as being different only in a petty and legalistic sense) promote or interfere with development of diagnostics, treatments, or cures for genetic disease.

 This is really the million dollar question.  Promoting innovation is the point of patents; it is the sine qua non of the whole patent deal.  It is tempting, but fatally wrong, to think of patenting as a system of social justice, ensuring that the deserving individuals receive the benefits of their labor and/or inspiration.  This is lovely, but false. A patent is not a right, like free speech or pursuit of happiness.  An individual or a corporation has no right to demand that the government throw its weight behind protecting their intellectual property.  Without a patent, they can protect their intellectual property simply by keeping it secret, like the formula for Coke.  In fact, one part of the deal when you get a patent is that you agree to make the information public.  This, in addition to making new ideas lucrative, is how patents are designed to promote innovation.  In this way, it is reasoned, we are spared the wasted energy of reinventing the wheel, and can go on to the society-enhancing process of improving our brakes, or our steering, or our floor mats.  (Are you listening, Toyota?)

 This ruling (maybe temporarily) invalidates sequence as the point at which a patent can be applied, a standard that might then be considered in other patent cases (or it might not.  Judge Sweet’s decision sets a precedent, but it doesn’t change any laws).  It leaves the door open for patents to be acquired for subsequent steps, such as testing methods or diagnostic algorithms (think Mammoprint).  The hope of many who argue against patents on sequence is that by eliminating the obstacle of a patent at this early stage, it will allow for more open and vigorous research to continue after the gene discovery phase, leading to more success in the development of diagnostics and treatments.  Which is, after all, what the whole thing is supposed to be about.

 For many years, the research system was divided, roughly, into basic science, which was generally funded by government or philanthropic sources and generally took place in academic settings, and commercial applications, which were generally funded by industry with a profit motive.  In 1980, Congress passed the Bayh-Dole Act, which actively encouraged universities to pursue patents and academic-industry partnerships, so that more of the government investment in science might be translated into advancements available to consumers.  As hoped, the number of patents resulting from NIH-backed science soared.  Bayh-Dole was very successful in promoting commercial use of scientific research; at the same time, it broke down the imaginary wall between academia and commercial interests, with consequences for everything from collegial information sharing to the dynamics of peer review that we are still sorting out today.  For example, it used to be a given that patents were not enforced in research settings.  Today, however, academics are routinely vested in companies, while companies often fund joint ventures with universities.  Companies are less inclined to wink at patent infringement in research when they see Washington University or UCSF as proxies for Monsanto or Genentech.

 But theoretically, a changing patent landscape could shift genetic research back in the direction of earlier models, with basic gene identification done mainly in academic settings using NIH or other public funding.  Detractors say that academic curiosity alone cannot drive discovery at the same pace as the dangling of dollar signs; others point to examples where research has been robust even without the financial inducement of an exclusive, patent-protected, market edge.  I am inclined to believe that intellectual curiosity and the desire to discover can do great things among the science-minded, but then, hell, I have always been a crazy optimist.  I mean, against all the odds in the world, I thought we could pass health care reform just because it was the right thing to do.

 Crazy, right?

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by | March 22, 2010 · 7:58 PM

Counsyl Poll: The Results are in!

A few weeks ago we implemented a poll to go along with Bob and Laura’s posts on the new “universal genetic test” being offered by the company Counsyl.

We asked readers to vote on three different statements or present their own statement about the service. We had a total of 68 votes. Here is what we found:

  • The most common response: 44% of readers believe that the test should only be offered through a medical professional
  • Many respondents believe that the test is a “big step forward for couples considering pregnancy” (35%)
  • 12% of respondents feel that the test is “dangerously oversold“

A small subset of readers chose to add their own response (6 total):

  • Three of these readers believe the test is a good resource, but took issue with the marketing of the product, calling it “alarming” and “inappropriate”
  • Another respondent believes this test “represents the future of genetic testing“
  • Two respondents were particularly concerned about the detection rates quoted by the website

It is important to keep in mind that this poll was simply a fun exercise. We did not restrict the number of times a reader could vote and did not perform any statistical analysis of the results.

In any case, I am not particularly surprised by the outcome. Generally, readers of the DNA Exchange (a.k.a. genetic counsellors) believe that this info should be given in the context of genetic counselling by a medical professional. Makes sense.

I voted for the “big step forward” answer. Personally, I don’t have a problem with this particular test being ordered directly by the consumer. But, I do believe that a medical professional should be available for consultation if the consumer is seeking it. And to their credit, Counsyl has several avenues on their site for a consumer to consult a genetic counselor either pre- or post- testing. It is interesting to think about how I might have voted differently a year or two ago.

Care to share your answer here?

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by | March 16, 2010 · 8:15 PM

Guest Post: Putting GC into DTC

Jill Davies is a Genetic Counsellor and the Director of Genetics at the Medcan Clinic, Canada’s leading preventive health care clinic. She has over 10 years of experience in genetic counseling and has worked in partnership with Dr. Lea Velsher (medical geneticist) to develop a preventive genetic service at Medcan.  Read her full bio here.

We’ve spent a lot of time discussing why DTC genetic testing shouldn’t be available, but I think we’re beginning to come to terms with the fact that consumer genetic testing is here to stay.  Rather than criticize, why don’t we look at embracing the technology and building a framework around how it can work?

For the past 4 years, I have worked at a private medical clinic in Canada .  More specifically, I have worked at a preventive healthcare clinic, where we focus not on health care as an expense, but as an investment.   Believe it or not, there is a large market for preventive health care. This growing area of medicine aims to focus on detecting disease early, when there is opportunity for treatment and improved outcomes.  A large part of this concept is health education, of which genetics education – understanding how genetic factors play a role in overall risk for disease – is often overlooked.

Family history is of course an important component of understanding one’s potential genetic risk and this is still the best place to begin any genetic assessment.  When I started at Medcan more than four years ago, my job was to meet with people as part of their annual medical and help them to understand their genetic risk based on family history.  The vast majority of conditions that people were concerned about were complex diseases, like cancer, heart disease and Alzheimer’s.  Conditions where I might rarely see an indication of inherited risk, but most often spent my time counseling around risk factors for common diseases.  Although I knew the information we were providing was important, only a portion of clients found value in this genetics education piece.  Many others found the information to be lacking – they wanted something more tangible.  They wanted genetic testing.

About a year ago, we started having discussions with Navigenics, a company who employs genetic counselors and who’s SNP panel is carefully vetted by a large team of scientists and geneticists.  Yes, I spent some time researching the other DTC companies, but it quickly became clear to me as a genetic counselor that only one company had figured out the right formula – as their slogan says “There’s DNA, and then there’s what you do with it”.  For those of you who haven’t had the opportunity to see a full Navigenics patient report, I encourage you to try to get your hands on one – its good!

We took a look at this report and thought “how can we build on this?”  As we’ve already established, there is clearly a market for preventive health and my experience was definitely telling me that people wanted more than just a family history review.  So why not combine family history, with personal genome testing technology?  Better yet, why not offer pre- and post-test genetic counseling sessions too?  This way, individuals have the opportunity to learn about the test in advance (risks, benefits, limitations, insurance issues) and also have a qualified professional to walk through the results and help interpret those results in the context of the family and medical history.

The biggest complaint about DTC testing to date has been the lack of qualified professionals to help individuals understand what the information means.  Although there are still limitations to our understanding of the clinical application, I don’t think we give consumers enough credit in their understanding of probability and risk stratification.  And I don’t think we give ourselves enough credit in our ability to counsel around these complex issues.  We’ve been doing it for years.  This is just a new framework in which to use our skills.

The uptake of our service has been very successful with our clients.  I’ll be the first to point out that we have a fairly unique patient population – high income earners who are already interested in proactively managing their health.  Anecdotal trends so far though indicate a low level of anxiety and a high degree of satisfaction with our program.  A program which allows the technology provided in a DTC test to be made available in the framework of genetics “best practice.”

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by | March 15, 2010 · 4:02 AM

Does History Shape Society’s Attitude Towards Genetics?

I visited D.C. as an undergraduate student and spent a majority of my time wandering around various Smithsonian museums.  I got to see Dorothy’s ruby slippers, Kermit the frog, and Apollo 11 artifacts.  There was one exhibit that left a lasting impression on me which was the Deadly Medicine:  Creating The Master Race exhibit at the Holocaust museum.

“DEADLY MEDICINE: CREATING THE MASTER RACE

From 1933 to 1945, Nazi Germany carried out a campaign to “cleanse” German society of individuals viewed as biological threats to the nation’s “health.” Enlisting the help of physicians and medically trained geneticists, psychiatrists, and anthropologists, the Nazis developed racial health policies that began with the mass sterilization of
“genetically diseased” persons and ended with the near annihilation of European Jewry.

To relate this history, the United States Holocaust Memorial Museum has assembled objects, photographs, documents, and historic film footage from European and American collections and presents them in settings evoking medical and scientific environments. Deadly Medicine: Creating the Master Race provokes reflection on the continuing attraction of biological utopias that promote the possibility of human perfection. From the early twentieth-century international eugenics movements to present-day dreams of eliminating inherited disabilities
through genetic manipulation, the issues remain timely.”  (http://www.ushmm.org/museum/exhibit/traveling/details/index.php?type=current&content=deadly_medicine)

The Genetics Revolution seems to focus so much on the future that we forget about the past.  Who are we to say the past does not affect us on some level?

Eugenics is, unfortunately, real.  Is this why so many people are concerned about The Genetics Revolution?

I know eugenics is a very sensitive subject but that doesn’t mean we should ignore it.   I think it is important for us to explore the history of genetics and the impact it has had on society.  I don’t know about you, but I have met several people who immediately assume genetic counselors encourage some form of eugenics.

Do you ever feel like in a sense the past is holding us back in terms of the public fully accepting The Genetics Revolution?

The reason why I’m bringing this up is because this exhibit will be visiting my town for a few months.  I hope to do a follow-up post about it from the perspective of a genetic counselor.  I hadn’t even started to apply to genetic counseling programs when I first saw this exhibit.

I also see this as an opportunity to educate the public about misconceptions that might be out there about genetic counseling.  There has been a lot of buzz about this exhibit.  I’m open to any suggestions as to how I can use this exhibit as a platform to educate the public and to increase awareness in genetics.

Thoughts?  Suggestions?  Comments?

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