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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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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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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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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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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Filed under Kelly Rogel

Saqqaq Confidential

An article in a recent issue of the journal Nature by a Danish-led international research team reported genomic sequencing of 4,000 year old permafrost-preserved human hair tufts from a man who belonged to the Arctic Saqqaq culture. The authors obtained remarkable information about the genetic constitution of Inuk – as he was named by the researchers, from the Inuit word for “person” – that provided insights into the genetic and migratory history of circumpolar populations.

The geneticist in me was fascinated by this paper. The authors suggest that the samples may have been the clipped hair that fell during a haircut. They calculated an admittedly speculative inbreeding co-efficient of 0.06, compatible with several ancestry scenarios, one of which is a first cousin mating. More than 300,000 SNPs provided information about his phenotypic traits such as hair color and earwax type but also susceptibility to diabetes, obesity, hypertension, Alzheimer disease, nicotine dependence, parkinsonism, and alcoholism. It’s the kind of research that makes you say “Gee whiz, it’s amazing what scientists can do.”

And then the nagging voice of my internal genetic counselor began pestering me with the questions “Do we have a right to know about this man’s genetic disease susceptibility? When does science trump a person’s right to privacy?”

I appreciate the scientific value of this information. There is no reason to believe that Inuk’s genetic information could be directly linked to his descendants.  Thus, no living person experienced psychological harm or a violation of privacy. One might even argue – with some Western hubris – that this research enhanced Inuk’s dignity since it contributed to our understanding of his people and culture.

On the other hand, we have clear-cut social and legal restrictions on privacy of medical information about living people. Some of what we learned about Inuk, such as his hair color or tooth shape, would have been obvious to his contemporaries and therefore does not compromise his privacy. However, Inuk’s genetic susceptibility to various diseases would not have been known by his coevals. Where do we draw the privacy line for deceased individuals?  Every culture has its taboos – what kind of personal information was considered privileged and confidential in Saqqaq culture?

It’s one thing when Beethoven asked his physician to study his body after death and to share the knowledge of his illness with the world or when the great English chemist John Dalton willed his color-blind eyes to science to advance the scientific understanding of deuteranopia. But would we have second thoughts about sharing the genetic disease susceptibilities of historically important people who may not have given such permission, like George Washington, Mark Twain, or Winston Churchill? What about celebrities like Michael Jackson? Is Inuk’s private information publicly available because of his anonymity or, more uncomfortably, because he was a member of a non-Western extinct culture?

The paper compared Inuk’s results with the DNA of Craig Venter and James Watson, but the latter two have intentionally made their genetic information widely available. Are DNA studies of the dead any different than studying disinterred bones for  clues to disease and biology? How do scientists distinguish themselves from resurrectionists and distance their practice from cranioklepty?  Is studying the DNA of the dead the scientific equivalent of sacra furta (the theft of saintly relics that was unofficially condoned by the Medieval Catholic Church)? How do we balance human dignity with the quest for scientific knowledge?

Should we allow public reporting of aggregate data on populations but only allow researchers with a legitimate scientific interest access to private information on a specific individual? Or are we contributing to the mythological aura surrounding DNA by insisting that genetic information is somehow more special and privileged than any other information about a person? After all, we live in a world shark-frenzied for intimate details about the sexual and personal lives of celebrities. DNA sequencing seems almost harmless in comparison.

I know, I know. I’ve posed many questions and no answers. But I am having a hard time answering them, so I am interested in what you think.

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Guest Post: Letter to the Editor, CNN

Suzanna Schott has been a prenatal and pediatric outreach genetic counselor in New Mexico for the last 4 years.  She was trained at JHU-NHGRI, and prior to that was a graphic designer in Atlanta, Georgia, her home town.  She is interested in representations of genetics in the media, and is a frequent writer of letters to the editor.

Ms. Elizabeth Cohen

Senior Medical Correspondent

CNN

Dear Ms. Cohen,

As a genetic counselor, it is my job to advocate for patients and families, help them interpret complex scientific information, consider the personal and ethical implications of genetic testing, and facilitate difficult medical decision-making.  I therefore appreciate your efforts to raise awareness of public health genetic screening practices and potential concerns about privacy and misuse (Elizabeth Cohen, “The government has your baby’s DNA,” cnn.com February 4, 2010.)  However, I was very concerned to see serious misinformation in your report about the nature of the screening and the potential risks involved.

I agree that parents have legitimate concerns about consent, privacy and potential misuse of testing samples.  Unfortunately, your report provided very few facts or evidence relevant to whether privacy violations and surreptitious testing have actually occurred.  Instead, your story sensationalized unrelated and unfounded concerns, which I am afraid will unduly influence families to avoid a test that can actually save lives.  Indeed, based on the online public comments, your article has left many readers ready to believe that every aspect of newborn screening is an illicit and irresponsible ploy by the government.  I must take issue with three assumptions in your report that I think led to these misunderstandings.

First, you suggest that newborn screening will identify children with diseases that would not otherwise be diagnosed, putting a permanent blemish in the medical record that could have been avoided.  Unfortunately, the fact is that the conditions detected on the newborn screen are typically so severe that even without newborn screening, an affected child would eventually require significant medical treatment resulting in the diagnosis in the medical record.  The problem with delaying diagnosis until symptoms appear is that it is often too late at that point for medical intervention to make a real difference. Babies with these conditions may appear healthy and normal at birth, while irreversible damage is silently occurring in the brain and other organs.

The second assumption that you make is that identification of these diseases puts children at risk for insurance or employment discrimination.  While genetic discrimination is a theoretical risk, I believe that your report grossly exaggerates this possibility.  Again, a diagnosis based on newborn screening is no more likely to result in discrimination than a diagnosis based on symptoms.  It is true that newborn screening can sometimes identify individuals who only carry a genetic difference associated with a disease, but are not affected with a disease.  Genetic carrier status has no effect on an individual’s long-term health and does not require treatment.  Therefore, carrier status does not cost an individual’s insurance company anything.  Nor does carrier status create any disability that would affect one’s performance at work.  Therefore the risk of insurance discrimination is very low, and in fact, actual cases of discrimination based on genetic testing results are very few and far between.

Nevertheless, there is a federal law called the Genetic Information Non-Discrimination Act (GINA) which prohibits health insurance and employment discrimination based on genetic information, and which your report entirely neglected to mention.  While there are limits to the protections provided by the law (see http://www.genome.gov/24519851 and http://www.dnapolicy.org/), GINA was specifically written to allow families to feel less afraid of having medically necessary genetic testing.  In addition, another federal law called the Health Insurance Portability and Accountability Act (HIPAA) provides strict controls on the types of medical information that can be shared with non-health care providers, including information related to newborn screening and residual samples.  If a parent truly feels that their child’s medical privacy rights have been violated by newborn screening protocols, there are outlets for reporting that (see http://www.hipaa.ihs.gov/index.cfm?module=faq).

Finally, the third concern I have with your report is the suggestion that the government will surreptitiously begin adding tests to the newborn screening for common conditions like mental illness or diabetes.  Again, in my opinion, your report greatly exaggerates this risk.  Many of us are frightened of science-fiction scenarios in which babies are genetically labeled and sorted.  However, the goal of newborn screening is early treatment, not eradication of genetic traits or labeling of adult onset disease.  Your readers may be relieved to know that there are very stringent criteria for inclusion of a condition on newborn screening panels.  Committees of medical and ethical experts have carefully considered how common a disease is, how severe it is, and whether early diagnosis and treatment will make any difference before including a condition on the test panel.  Your readers should know that much of the movement to implement newborn screening did not come from government bureaucrats, but from families who have witnessed first hand the difference that newborn screening can make.

Certainly, as a society we should be debating the uses of genetic technology, including what conditions are included on testing panels, who gets to decide, who has access to our genetic information and how is it used.  I also concede that we health care providers can be doing a better job to make sure parents fully understand newborn screening, ahead of time, and have the opportunity to opt out of both testing and storage of DNA.  But make no mistake, newborn screening has saved lives, reduced suffering, and contributed to genetic and public health research.  I believe that most thoughtful parents, armed with balanced and complete information, would agree that the benefits of newborn screening far outweigh the risks, to both their children and the community at large.

Your report would have been less alarming and more informative for your audience if it had included more facts and less speculation.  For future stories on genetics, I encourage you to utilize the professionals in the American College of Medical Genetics (see http://www.acmg.net) and the National Society of Genetic Counselors (see http://www.nsgc.org) to both deepen and broaden your discussion of the issues.

Sincerely,

Suzanna Schott, ScM-LCGC

Licensed Certified Genetic Counselor

Albuquerque, New Mexico


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Glenn Beck Hates Babies: Death Panels, Newborn Screening, Fox News and Me

 “You are from the Glenn Beck Show?” I asked. My voice betrayed what for lack of a nicer word might be called skepticism.

 “The Glenn Beck Show,” she answered, her tone sliding past defensive into a smug I-know-what-you-are-thinking defiance that reminded me wordlessly of Fox News’ Nielsen dominance.  “We were wondering if you would like to come on the air tonight, to discuss newborn screening.  We are interviewing a woman who is suing the state of Minnesota for taking her child’s DNA without parental consent.  We were told you might provide some expertise on the issue.”

A quick succession of questions went through my head.  What was something as routine as newborn screening doing on the Glenn Beck Show?  What expertise were they looking for from me?  I reviewed what I knew on the subject.  Our system — a hodgepodge of opt-in and opt-out, implied consent and presumed consent – state-by-state regulations put in place in a simpler era, when newborn screening meant looking for PKU and a handful of other conditions.  It was not a system designed to handle today’s complex screening panels, and certainly not the use of newborn screening samples for research on genetic disease, birth defects, environmental exposures, chromosome studies and the like.  The topic interested me.  Being on television interested me.  Could I say yes?  Absolutely not, I told myself sternly.  This was Glenn Beck.  Who knew what crazy angle they would take?  There might be shouting.  What if he cried?  What on earth would I do if he cried?

 “Yes,” I said.  “I would be happy to.”

I was in New York, she noted, so I could come in and sit with Glenn in the studio.  With Glenn.  We were on a first name basis now, me and Glen.  Oh dear, I thought – or perhaps it was some other four letter word starting with ”sh”.  I poked around on the internet, searching for a few salient facts.  Minnesota tested for 53 conditions, 24 more than the 29 “core conditions” the ACMG designated top candidates for newborn screening.  The state permitted the use of newborn screening blood spots for research, usually de-identifying the samples first.  If you had a child in Minnesota, his or her DNA might be used to check the incidence of CMV infection, or the feasibility of newborn screening for Wilson’s Disease.  There was a study of mercury exposure.

I barely had time to break into a cold sweat in my closet when the producer from the Glenn Beck Show called back.  “Change of plans,” she said.  “We’re going in a different direction.”  A different direction — I was no longer needed.  They liked some other expert better.  I felt that peculiar pang you feel when people you despise and disdain don’t love you.  It was like junior high school all over again.

 And then I watched the show, which is to say there’s a first time for everything.  They hadn’t booked another expert in place of me (my heart gave a small, involuntary leap).  They had booked instead a state senator from Texas who was so completely insane that he made Glenn look reasonable by comparison.  The government was using newborn screening as an excuse to take DNA from children, the senator said.  That’s right, Glenn agreed.  It was like Nazi Germany, the senator insisted.  It could be, Glenn agreed.  Soon there would be concentration camps for people whose DNA the government found inferior.  Glenn tilted his head, like he couldn’t quite get his brain around that.  Probably not, he said, after a significant pause.

 Now I understood why I had been dis-invited for this crazifest.  They didn’t reject my expertise – they rejected all expertise.  Expertise was problematic in that facts could not be relied upon to support the narrative.  This wasn’t a story about newborn screening; it was a story about  government power encroaching on individual liberties.  The woman from Minnesota, a petulant but mild-mannered soul who had some good points to make about the actual risks of amassing a DNA database without proper consent – a practice confined to newborn babies and convicted felons – but she was left in the dust, unable to take the necessary next step of contextualizing newborn screening in the socialization of the American healthcare system.

 Complex issues are always at risk of being misused by in the service of a simple story that feeds into existing fears and beliefs.  The more complex the issue, the easier it is to cherry-pick facts to provide ersatz credibility.  In recent attacks on newborn screening, the underlying narrative is fear of big government, as illustrated by a CNN story last week titled: “The Government Has Your Baby’s DNA.”  Against all odds, this is actually a decent, balanced article – but if that headline doesn’t make you crazy, try reading the comments, several of which suggest that newborn screening is an invention of the Obama administration or a 21st century incarnation of Big Brother.  Death panels for the Headstart crowd.

 I applaud the spirit of the many genetic counselors who immediately looked to respond to the CNN article (No one said boo about the Glen Beck Show; was I the only one watching?).  Still, I think it is important to look at two key points before formulating any response:

1. Keep in mind the narrative.  Most people cannot be expected to care that much about newborn screening except as it fits into a larger context.  The fact that you are anxious to educate them does not mean that they wish to be educated.  Therefore, if the narrative is about a government power grab (and it is), then it probably won’t help to tell people that HIPPA and GINA will keep their babies safe.  I’m guessing that they will not take comfort in knowing that Washington has created two new acronyms to safeguard their children’s DNA. 

Ignoring the narrative is one big reason why the well-intentioned and well-informed have spent years dumbfounded by the intransigence of parents who continue to believe that vaccines do not cause autism.  I know it is hard to accept, but it just doesn’t help to offer someone the gold standard of peer-reviewed science when their meta-narrative is about how the medical establishment has been corrupted by for-profit entities.

 You can’t tell people whose fundamental issue is that they don’t trust the government that they don’t have to worry because the government will take care of anything.  What other options do we have?  Let’s try to remember that this is not about government rights; it is about baby’s rights.  The message has to be that every baby has a RIGHT to newborn screening.  We can’t get sidetracked into defending the will of the government to defend privacy and autonomy.

2. The narrative doesn’t just obscure the facts from those who believe it; it obscures the facts from those who despise it.  Let’s not lose track of all the valid concerns that have been raised by parents who object to a lack of education and consent in the use of newborn screening samples.  As much as we would like to insure parents that a database of blood samples would never be misused, it’s a fool’s business making promises.  The only sure thing about predictions is that some of them will be wrong.  No one anticipated the development of an algorithim that could match DNA samples to individuals within pooled DNA in GWAS, which sent government agencies scrambling to rewrite the rules for use of supposedly anonymous DNA registries.  No one anticipated that a teenage British boy conceived by sperm donation would be able to use ancestry testing designed for genealogy buffs combined with a few rudimentary facts like date of birth to find his donor dad.

 All other innovations in genetic services require vigilance and thoughtfulness.  But it is worth the effort, because every baby has a right to newborn screening.  We can’t sacrifice the possible to the paranoid, because that would be shortchanging America’s children.  That’s what I would have told Glenn Beck.  I might even have cried.

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Emerging Technology vs Old School

I don’t know about you but I have a love-hate relationship with technology.  It can make things simpler but it can also make things more difficult.  There are days where I miss old school…..you know….regular paper and pens.  There are also days where I am thankful for oodles of information available at a click.

Regardless of if you love or hate technology, we are in the middle of a technology revolution.  We  have to figure out ways to incorporate technology into our profession in positive ways.   We cannot ignore this revolution.

There has already been some resistance to the incorporation of technology within our profession.   There has been a lot of valid concerns about direct-to-consumer services, telephone genetic counseling, and online family history/pedigree programs.

Patient 2.0 is the concept where people meet online to discuss their health, clinical trials, which hospitals to avoid, which doctors to see, and treatments.  While this encourages people to take charge of their health it can be a danger if they believe inaccurate information found online.   Does Patient 2.0 do more harm than help or is it vice versa?

You can even ask healthcare questions on Twitter.  You can easily search for genetics apps on your iPhone/iTouch.  Some of these apps include; MGenetics, PubSearch, NextBio (correlated data from all public gene expression experiments), Odd Diseases: Genetics, and BioGene).  You can even listen to podcasts or genetic lectures at iTunes U.  If used correctly, apps could be developed to exposure middle and high school students to  the field of genetics.  Apps could also be developed as study tools for genetic counselors, however, we should not depend on these apps.

*Start rant:  Most podcasts and lectures are NOT captioned.  If you ever find yourself making a podcast please subtitle, caption, or make a transcript available.  THANK YOU! *End rant* 🙂

There is a new form being formed and it is a group with full access to technology.  What about those who do not have access to technology (e.g. Internet)?

Two concerns I would like to touch on:

1)      Should healthcare information online be regulated?  Should we start exploring ways to teach the public the limits of technology (e.g. don’t believe everything you read online)?

2)      It is easy to get lost in this technology revolution.  There will soon be a forgotten group.  People who do not have access to or do not feel comfortable with technology will be left behind.   How do we make sure this group will always have equal access to genetic services/information?

How can we combine the pros of both technology and old school in order to provide high quality genetic services for EVERYONE?

Thoughts?

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“Just Say No” Doesn’t Work in Genetics Either

As Bob Resta’s post here on the DNA Exchange ably illustrates, genetic counselors have lots of reasons to take an interest in the Counsyl Universal Genetic Test.  Is it being oversold?  Probably – here are a couple of reasons why Universal is not universal:

  1. The company cites a high accuracy rate for detection of mutations – but of course they only mean the detection of mutations on the panel, which means it gets many but not all – this distinction would likely be lost on the average consumer.  And in the same vein, accuracy does not measure how many of these very rare mutations may be non-penetrant or benign.  It is hard to tell how often we will be suggesting unnecessary intervention, including extreme measures like PGD.
  2. People might understandably assume that “universal” means ALL diseases, rather than  a subset of rare diseases with a recessive etiology.  The specifics are there in the fine print but I’m just saying…

I imagine many counselors are leery of the Counsyl test because they suspect the people for whom expectations exceed performance will land in their laps, angry and frustrated.  This must be something akin to how the sanitation department feels about tickertape parades.

Then again, the Counsyl test has a lot to like:

  1. Great value.  The test offers information on 100 diseases for the same cost as we often see for information on one or two diseases.
  2. Accessibility.  A DTC test enables people who live far from any purveyors of genetic services.  Sometimes the question is not is this the best way? but is this better than nothing?
  3. Focus on rare diseases.  These are the orphan diseases – the ones that can’t get any attention unless Susan Sarandon or Harrison Ford make a movie.  This test may expand our ability to reduce the number of families who have tragic outcomes.  The Times cites critics as saying this is a step toward designer babies but if this is some exercise in vanity than so is EVERYTHING WE DO.  Seriously.

Saving babies, cost, accuracy, uncertainty – these are issues we have seen before, balances to be struck.  In fact, we make these decisions all the time.  What is really new about the Counsyl test is not the questions we must answer but the fact that no one is asking – it is not up to us!  Although genetic counselors have always prided themselves on allowing patients to make decisions, they have always been in control of the flow of information – of how much information was necessary to make a responsible decision.  Of what information was extraneous, and what information potentially dangerous.

Naturally our response to innovations like the Counsyl test is to debate whether or not the information in it is more likely to help or to harm our patients – just what I was doing when I made my list above.  It’s not a bad thing do, and I welcome comments on my Reader’s Digest version of the pros and cons, because counselors out there have a lot to add on that debate.

But we can’t universally confine our response to trying to weigh in on whether or not it is a good idea to allow the information to get out there unimpeded.  Why?  For one thing, it is a waste of time.  Trying to impede the flow of information in the 21st Century is a pastime for Luddites.  Harping on it will make us about as relevant as Amish fashion critics.  Sure – everyone does look good in black, but people are going to be wearing fuschia and even mauve.  It’s a fact of life.  I like clothes with zippers.  There are those moments when button-fly jeans are just too slow.  You know what I’m talking about.

Plus, reflexively, we should be for and not against the free flow of information.  This is America – land of the free, not land of the carefully vetted.  The nature of information is that it is confusing as well as enabling, and an excess of it does not diminish the importance of expertise – it creates an opportunity for expertise.  Let people get information and they will come looking for clarity.  Liz Kearney, the new president of the NSGC, has written persuasively about the need to establish an NSGC “brand.” She’s right.  We need a brand, and we need our brand to stand for credibility, clarity and unbiased scientific accuracy – something that will stand apart from all the information, accurate and otherwise, that comes from people who have something to sell, like the Counsyl Universal Genetic Test.

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