Tag Archives: ethics

1193 to 4

Prenatal diagnosis of Down syndrome has long presented an ethical dilemma for the genetic counseling profession. As genetic counselors are fond of saying , we strongly support women’s reproductive decisions, including both continuing and terminating pregnancies wherein a fetus has been diagnosed with Down syndrome or other condition. But also in the oath that genetic counselors swear to,* we claim to be strong supporters of the rights and dignity of people with disabilities. The disconnect between these ethical imperatives leaves genetic counselors open to justifiable criticism from people with disabilities, their families, and their advocates. How can we simultaneously support people with disabilities while at the same time participate in a screening program whose primary purpose is to sort out fetuses who have certain disabilities?

The typical response to this criticism is that patients have choices about whether or not to undergo prenatal screening for Down syndrome, and genetic counselors try to be value neutral in supporting patient choices (for the moment leaving aside the economic and social realities that limit women’s choices and that genetic counselors have no control over). One of the purported benefits of prenatal screening for Down syndrome is that it allows couples to prepare for the birth of a child who may have special needs. And as many of my patients’ obstetricians used to say to them, we can be better prepared medically for the baby’s birth. Seem like reasonable points, no?

Well, they do seem like reasonable counterpoints. But this got me thinking – just how much research has been done on the extent to which prenatal diagnosis enhances familial adaptation to a diagnosis of Down syndrome, and how much does it improve the medical and developmental picture for the newborn with Down syndrome? In short, I wanted to know how much benefit people with Down syndrome and their families gain from prenatal diagnosis.

To help answer this question, I performed a PubMed search using these broad terms: Down syndrome, prenatal diagnosis, prenatal screening. I set the parameters to English language articles with abstracts for the ten years prior to September 18, 2015. This produced 1373 articles, 176 of which I eliminated because they were not primarily about prenatal screening for Down syndrome, leaving 1197 articles. I then read the abstract of each article for evidence that the research addressed the benefit of prenatal screening to postnatal adaptation of families or improved medical outcomes for liveborn children with Down syndrome.

1193 articles addressed sensitivity, specificity, assessing test performance, comparison of screening techniques, patient anxiety, ethical critiques both pro and con, program implementation, patient education, economic/cost benefit analysis, circulating placental DNA, maternal serum biochemical analytes, ultrasound markers, psychological responses, termination rates, decision making, etc..

The number of articles that addressed my primary question? Four.

And even this number is a bit of a stretch. Two of the four articles were speculative pieces about how prenatal diagnosis may one day allow options for treatment. These two articles shared a primary author and one article was basically a slight update of the earlier article.

The other two articles reported on the experiences of women who received a prenatal versus a postnatal diagnosis of Down syndrome. One article reported that women had a difficult time with how the diagnosis was delivered whether it was prenatal or postnatal. The other article reported that a majority of women who received a prenatal diagnosis of Down syndrome and continued the pregnancy felt that they would undergo prenatal screening in future pregnancies for emotional preparation.

I recognize the shortcomings of my quick analysis. No doubt I missed a few articles. PubMed search results vary significantly with the search terms and parameters, and I swear sometimes with the phase of the moon (speaking of which, the upcoming eclipse of the Blood Moon/Harvest Moon September 27-28 should be spectacular, though it may affect PubMed searches that are conducted during the event). Abstracts may not accurately convey the research findings. And of course the search does not include articles published in languages other than English or that were published before September, 2005. So if you know of articles that I missed, please point them out in the Comments section below. Heck, do a PubMed search yourself and see what you come up with. Prove me wrong, please.

If we are going to honestly present prenatal screening as a choice, the choices have to be more than Abort or Carry To Term, unless of course we want to make the uncomfortable acknowledgement that the primary purpose of prenatal screening is to avoid the birth of children with Down syndrome. Pregnancy termination is important for many couples and we should support patients in their reproductive decisions whatever their motivations, but we also need to show a wider range of benefits from prenatal screening.

Ten years and not even a handful of published research about the benefits of prenatal screening for people who have the very condition that is being screened for. Come on, we can do better than this. Our patients deserve better. Shame on us.

 

* – Okay, I admit that I made up the oath part, but it is so ingrained into our core ethos when we are trained that it may as well be the genetic counseling equivalent of the Hippocratic oath.

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Albatross

Ah! well a-day! what evil looks
Had I from old and young!
Instead of the cross, the Albatross

About my neck was hung.

And till my ghastly tale is told,

This heart within me burns

He went like one that hath been stunned,
And is of sense forlorn:
A sadder and a wiser man,

He rose the morrow morn.

– Excerpts from The Rime of The Ancient Mariner, by Samuel Taylor Coleridge

Eugenics. I can hear the thud as the collective eyes of genetic counselors roll heavily at the mention of the E-word.  That finger has been wagged in our faces ad infinitum. Alright already, we have learned our lesson from this shameful past. That was like more than half a century ago. Do we have to still keep apologizing for something we never did? Enough with the hand-wringing and perseveration. We’ve smoked this one down to the filter.

Well, no, apparently we are not done. As historian of medical genetics Nathaniel Comfort has pointed out in a recent thoughtful Genotopia blog (with an equally thoughtful commentary by Alex Stern, the biographer of our profession), eugenics discussions are back with us. We need to keep having the discussion because apparently we are not sadder and wiser people this morn. Some even think – with great hubris, in my view – that with our supposedly greater wisdom and technological advances, maybe some version of eugenics is not such a bad idea after all.

I am not going to repeat Nathaniel’s and Alex’s arguments here; visit the Genotopia blog and read the originals. What I want to do is to offer a  framework for thinking about the issues raised by these historians and introduce the concept of genetic discrimination into the mix.

Genetic discrimination, in my definition, is discrimination based on a person’s presumed or actual genotype and it’s presumed or actual phenotypic expression. The word discrimination comes from  the Late Latin discriminationem, meaning “to make distinctions” and can have both negative and positive connotations. Racial and gender discrimination that results in suffering and inequity is bad. But a discriminating person is one who shows great taste for fine things. Not to try to dance too many angels and devils on the head of this pin, but perhaps when discrimination has a negative effect, it could be called dyscrimination.

Eugenics, then, can be viewed as a form of negative genetic discrimination, the goal of which is to improve the genetic health (whatever that means) of future generations.

Prenatal diagnosis, the usual aim of eugenic critiques, is not eugenic because it does not try to alter allele frequencies of future generations. Down syndrome is almost never an inherited disorder, and people with Down syndrome rarely reproduce. Prenatal diagnosis is not an attempt at “the self direction of human evolution,” as the 1921 Second International Eugenics Congress defined eugenics.  But from the standpoint of some, prenatal diagnosis is a form of negative genetic discrimination – fetuses are discriminated against because of their genome and the common but inaccurate perception of the Down syndrome phenotype as a backward child with a heart defect but a pleasant personality. Although the insensitive term mongolism is rare these days, the common image of “the Mongol child” has not evolved as much as it should have.

Pre- or early pregnancy screening of parents for mutation carrier status for various genetic conditions, on the other hand, might rightfully come under eugenic criticism since its explicit goal is to improve the genetic health of future generations and to wipe out genetic diseases by preventing the conception of homozygous recessive offspring. Never mind the nonsense spewed forth on some websites; carrier screening usually has very little to do with improving the health and quality of life of babies who are born with genetic conditions. Carrier screening can result in reduced suffering if fewer children are born with life threatening or medically serious disorders but it rarely improves the health of babies who are born with those conditions. Whether this is a “good” or a “bad” form of eugenics, and how commercial laboratories advertise their product, are questions open to healthy debate.

Newborn screening, as it is currently practiced, is not eugenic because its intent is to improve the health of a child by treating the presumed phenotype based on the genotype. Newborn screening could thus be viewed as a positive form of discrimination, albeit one with flaws that we are not comfortable acknowledging . But newborn screening can also be viewed as negative genetic discrimination, depending on the condition being screened for. Some people who are deaf have raised serious concerns about screening newborns for hearing loss.

Genetic screening for adult onset disorders like Lynch syndrome or familial hypercholesterolemia may be positive genetic discrimination. The goal of this screening is to treat the phenotype based on the genotype with the hope of reducing the incidence of serious, life-threatening diseases or to mitigate their effects. Dietary changes, treatment with statins, high risk cancer screening, and surgery are strategies that are offered to people at increased hereditary risk of developing these diseases. Of course, if there were to be widespread preimplantation or prenatal diagnosis for these conditions, then we should rightly raise eugenic questions.

Why make these distinctions? Because the word eugenics has become an angry accusation that ends discussions. The social effects of genetic medicine and genetic counseling should always be open to vigorous scrutiny but the criticism needs to be accurate and sensitive to nuance. Maybe some of what we genetic counselors do is eugenic, and maybe under certain situations, this may not be as terrible as it sounds. And maybe some of what we do is dyscriminatory but not eugenic; we need to understand why it is dyscriminatory so we can do something about it. And maybe lots of what we do is very helpful for many people and not particularly eugenic. To cram all of medical genetics into a eugenic framework prevents any progress from ever being made. The two sides start to resemble Democrats and Republikans in a dysfunctional Congress, never able to engage in meaningful debate. Let’s get this albatross off our necks.

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Guest Post: An Education in ‘Re-identification’: Learning From the Personal Genome Project

By LEILA JAMAL, ScM

Leila Jamal is a genetic counselor in pediatric neurology and a PhD student in Bioethics and Health Policy.  The views expressed here are hers and hers only.

As many are now aware, Latanya Sweeney and her colleagues at Harvard’s Data Privacy Lab recently published a study demonstrating the individual “re-identifiability” of research participants in the Personal Genome Project (PGP).  Despite misleading news coverage overstating the proportion of individuals Sweeney’s team re-identified (using self-reported birthdates, genders, and zip codes) the study has sparked some useful discussions about the implications of ‘re-identifiability’ for genomic research and the ethics of re-identification demonstrations.  For a comprehensive roundup of these issues, I recommend reading a series of perspectives corralled by Michelle N. Meyer in her Online Re-Identification Symposium over at the Petrie-Flom Center’s Bill of Health.  This post will not match the breadth and depth of insight covered by my friends and colleagues there.   My more modest aim is to contemplate what genomic researchers and counselors can learn from the ripple effects of Sweeney’s study.

The PGP is demonstration project in its own right, with one of its goals being to “explore the opportunities, risks, and impacts of public genomics research”.   As clairvoyants who saw the pitfalls of guaranteeing anonymity to participants in whole-genome research early on, PGP founder George Church and colleagues developed a novel strategy for securing the trust of prospective participants by privileging the principle of “veracity” in their informed consent process.  Accordingly, the PGP informed consent form clearly tells prospective participants that any personal data they contribute to the PGP may be linked to their individual names.

By pursuing this strategy, the PGP nudged a shift in our thinking about the risks of genomic research.  The emphasis on veracity reflects a subordination of concern about risks to individuals posed by anonymity breeches in favor of concern about risks to genomic research posed by breeches of researcher-participant trust.   Since its inception in 2005, the PGP has reciprocated the openness of its participants by developing open-source research tools, hosting them at an annual education meeting, returning their individual research data, and keeping them abreast of the PGP’s activities with blog updates.

In light of the PGP’s emphasis on transparency and data-sharing, a key question raised in the aftermath of the Sweeney et al. study is whether participants had a “right” to be distressed – or even surprised – that their identities were (potentially) made public by a third-party demonstration project.  In a pair of symposium posts, Madeleine Ball and Misha Angrist stress that the possibility of individual participant identification from PGP data is explained thoroughly in the project’s informed consent form, pre-enrollment study guide, and ongoing correspondence with participants.  Their advice to anyone in the PGP with residual concerns about being identifiable? To refrain from sharing ‘sensitive’ data with the PGP, or to withdraw what data they can from the protocol altogether.

On the surface, these suggestions make complete sense and are consistent with the PGP’s fidelity to the principles of veracity and respect for autonomy.  Yet their bottom line makes me uncomfortable.  It reminds me of a recent meeting I attended where Johns Hopkins bioethicist Jeffrey Kahn spoke to a group of communications researchers about the ethical issues raised by using Twitter API and other internet data in public health research.   Kahn’s suggestion that mining ‘anonymous’ Twitter data (which is stamped by time and location) for health-relevant content could be upsetting or even harmful to some Twitter users was met with a common rebuttal, loosely paraphrased as follows:  “If they don’t want it used, they shouldn’t have put it out there.”

To me, this sounded like the research ethics equivalent of being told I deserve to be catcalled for wearing a skirt in the street.

Obviously, the PGP is not trying to be the street, nor is it trying to be Twitter.  Given the PGP’s specific ethos and aims, some might argue that adopting a “we told you so” approach to informed consent is sufficient to advance the project’s research aims (though I suspect not, given my wholehearted faith in the PGP’s commitment to collecting reliable phenotype data and recruiting diverse participants, not to mention departing from the status quo in research ethics.)  To its credit, the PGP has welcomed the response to Sweeney’s re-identification demonstration as a teaching moment and is soliciting feedback about how to improve its communication with participants.  The PGP’s humility moves me to consider: What are the rest of us taking for granted about research participants’ long-term views regarding secondary uses of their personal data – ‘identifiable’ or otherwise?

In her own re-identification symposium post, Meyer highlights a number of concerns I share (in case I butcher them in what follows, I encourage readers to refer directly to her original words.)  Responding to Angrist’s question about why she remains in the PGP despite misgivings over Sweeney’s findings, Meyer draws an important distinction between a) assuming the risk of individual re-identification to advance biomedical research (which she authorized) and b) providing consent for third parties to use her data with the explicit goal of determining her identity (which she did not).  At the core of Meyer’s qualm is that “choosing to share personal information when asked is different than having that information taken from you without your permission or even knowledge” [emphasis mine].  Her point is that we shouldn’t have to choose ‘both’ or ‘neither’ to participate in genomic research.

The irony of this debate is that the PGP leadership has asked its discontents to withdraw data from the protocol to mitigate their concerns over the risks of being re-identified, when the breech Meyer refers to is one of trust and shared understanding about the purposes of donating her data to research.  Aren’t trust and understanding the very dimensions of the research-participant relationship the PGP seeks to preserve with its veracious approach to informed consent?  If so, this is a critical lesson for any of us involved in biomedical research at a time of impending (we think) regulatory reform.  If such misunderstandings can surface in a cohort of scientifically literate and motivated “genomic altruists” despite a rigorous informed consent process, what does this presage for other, less thoughtful research projects in an era of genomic identifiability?  It would suggest that reforming U.S. research ethics regulations to encourage the use of more ‘open’ informed consent protocols administered at a single time point would be insufficient to respect autonomy and voluntariness in research participation.  At best.

As a member of the ethics team for Genetic Alliance’s new Registry for All Diseases [Reg4All] I follow events like these with interest and concern.   Reg4All is committed to building an inclusive, accessible research repository while honoring heterogeneous privacy preferences and facilitating participants’ control over aspects of data-sharing that matter to them.  Like the PGP, Reg4All will evolve in response to the engagement and feedback of research participants.   In order to listen to them, we must know who they are.  But once we do know, we must REALLY listen.

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Conflict of Interest and Practice Guidelines: A Call to Arms

ON THE LEVEL

I admit that I started out with the intention of writing a point/counter-point piece to Bob’s post on conflict of interest. As a laboratory genetic counselor and a member of the NSGC Practice Guidelines Committee, I figured if anyone should step up, it should be me. So I started doing my background research. First, I decided that perhaps Bob just couldn’t find the Conflict of Interest Policy on the NSGC website. I was determined to find it, right there, hidden in plain sight. But, no such luck. It’s not there. There is not even a mention of it on the page with our Code of Ethics link. OK, score one for Team Resta.

So what about our “sister” organizations like ACMG and ASHG? What do they do?  I went to the ACMG website and after searching for several minutes, I couldn’t find anything there, either. OK, so we weren’t the only ones who did not have a conflict of interest policy posted on our website. Team Strecker, makin’ a move. How about ASHG?  (At this point I was thinking, well, if ACMG didn’t have anything, I bet ASHG won’t either.) Wrong. In fact, waaaaaaay wrong. ASHG has a link to their Conflict of Interest & Disclosure Statement, prominently displayed under their Bylaws, which provides clear definitions regarding what constitutes a conflict of interest, how both real and potential conflicts of interest are handled, and to whom the policy applies. Yeah, I admit it; I was impressed.

TAKING A GOOD, HONEST LOOK AT OURSELVES

Next I decided to tackle Bob’s recommendation that we base NSGC’s conflict of interest policy for the development of practice guidelines on the Institute of Medicine’s (IOM) Committee on Conflict of Interest in Medical Research, Education and Practice recommendations. “It would not be that difficult to implement,” he tells us. All I could think was “Sure, easy for you to say.” But then I realized, that maybe, just maybe, Mr. Know-It-Almost-All Resta might just be right. Section 7 specifically addresses conflicts of interest with respect to developing practice guidelines. I’ll summarize it for you:

1) Don’t accept industry funding for the development of guidelines.

No problemo!!  I can tell you that on my watch, no one has ever offered money to help us get practice guidelines written. In fact, I almost laughed when I first read this one, because I feel like any of us would have the good sense to see the wolf dressed up in granny’s clothing here (My, what big stacks of cash you have, grandma!).

But then I reminded myself that when it comes to ethics, credibility, and money, we must assume nothing.

2) Exclude individuals with conflicts of interest from guideline development panels.

I have mixed feelings about this one because I’m not sure whether we are talking about individuals with (i) true conflicts of interest (in which case, I agree and they should have the good sense to recuse themselves) or (ii) the potential-for-the-perception-of-a-possible-conflict-of-interest.

For example, I take issue with unconditionally excluding laboratory genetic counselors from co-authoring guidelines simply because their laboratory offers a test for the condition about which the practice guideline is being written. Obviously we want the reputation of the NSGC and its practice guidelines to be above reproach, but we also need to be pragmatic. The expertise of laboratory genetic counselors should not be marginalized. Let’s use our judgment with this one, and if the magnitude of the conflict of interest is deemed significant, then it is fair to provide an option for participating as an advisor, rather than an author.

3) If there is difficulty identifying authors without any conflicts of interest, involve the public in an attempt to identify experts without any conflicts of interest.

I like this one. A lot. You know why? Because the public (and by public here, I really mean the NSGC membership) is no longer involved in any aspect of the Practice Guidelines process. Topics for upcoming practice guidelines are not provided or voted on by the membership. The fact is, as a volunteer-driven organization, we are entirely reliant upon the gracious volunteer efforts of our colleagues. So with no trace of disrespect whatsoever, you know what they say about beggars and choosers. The thing is, this method of ascertainment leaves me feeling like we’re in some sort of secret society. Apart from the Practice Guideline Committee members, the NSGC Board of Directors and the authors themselves, I’m not sure that anyone else even knows what practice guidelines the NSGC is working on for 2012-2013. (And they certainly don’t know our secret handshake. Kidding!)

In fact, most of the time, members don’t even know a practice guideline is in the works until it is made available for Membership Review. Oh wait, we don’t even have that anymore. This March, the Practice Guidelines Committee received feedback from the NSGC Board that guidelines were taking too long to complete, and in order to help “streamline the process” the NSGC Board determined that practice guidelines would no longer undergo Membership Review. This was none too popular with the Committee, but we were informed that the Board’s decision was final. So, this IOM recommendation got me to thinking that perhaps we could institute an open call to the NSGC membership once a practice guideline proposal has been accepted in order to allow interested individuals with relevant expertise the opportunity to volunteer as co-authors. This would allow us to identify as many conflict-of-interest-free potential co-authors and expert reviewers as possible, and although it wouldn’t be the same as re-instituting member review, it would be a step in the right direction.

4) If exclusion of authors with conflicts of interests is not feasible, the number of authors with potential conflicts of interest must comprise a minority of the author group.

Whew. Done and done.  We are good here – our policy already states this.

5) The chair of the guideline committee should have no conflicts of interest.

I am with Bob here – we need to revise our current Conflict of Interest Policy to reflect this. At present, our policy for practice guidelines authors states that “a conflict of interest does not exclude an individual from being appointed lead author if doing so is anticipated to improve the overall quality of the guideline.” It is a very well-intentioned statement, but in order to garner respect for our profession, our society and our practice guidelines, we have to toe the line on this one and make it clear that lead authors cannot have any relevant conflicts of interest.

6) Individuals with a potential conflict of interest should not be included in voting for the acceptance of a practice guideline.

Woohoo! Got that one! Oh wait, maybe not. Dang it! The reality is that the Practice Guideline Committee members with potential conflicts of interest have always recused themselves from voting on practice guideline proposals and final drafts of guidelines, but after re-reading our Conflict of Interest Policy, I realized that we don’t actually say that we do this in the document, and we need to.

DIVULGING OUR FINANACIAL AFFILIATIONS

So we have clearly established that Bob might, in fact be right about that whole IOM thing not being all that difficult to implement. But what about his challenge to make our corporate income sources publically available? I don’t have a problem with Bob’s suggestion to make a list of our corporate sponsors available, but rather than providing them with free advertising on our site, perhaps it could be made available on request. In addition, I would like to once again direct your attention to our colleagues at ASHG and their “Guidelines for Corporate Sponsorship” in which they delineate the steps that are taken to prevent concerns about undue financial influence on the society by outside sponsors. I think a similar policy would be a great addition to the NSGC website. Being upfront about our sources of income helps demonstrate that it is important to us to be free from undue external pressure and lends credibility to our professional society.

BRING IT!

I’ll close with the quote that appears on the title page of the IOM’s recommendations regarding conflict of interest:

“Knowing is not enough; we must apply. Willing is not enough; we must do.” —Goethe

You see, Pom-Poms Resta, you sit comfortably on the sidelines, telling us that it is not your intention to actually DO anything about the issues you bring up; all the while, taunting the rest of us to “Buh-ring it!”.  OK. You know what have to say about that? In the immortal words of Priscilla in “Not Another Teen Movie” (Columbia, 2001) let me just say– “Oh it’s already been buh-roughten!”. (Insert sassy Z snap here for emphasis.)

I  have contacted the NSGC Practice Guidelines Committee’s Board liaison to propose a volunteer taskforce dedicated to strengthening our Conflict of Interest Policy and fortifying our efforts toward transparency in our corporate sponsorship ties.

So, the only question remaining is “Who is willing to get all Goethe on this issue with me?”

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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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The Kids Are Alright: Re-thinking Genetic Testing of Children

It seems like that would better to do that [genetic carrier testing] earlier, you know even before, just so that it was always. …. It’s like if you’re like adopted. It seems like it would be better to know you’re adopted your whole life than to just have a day when you’re 13 and your parents sit you down and tell you you’re adopted. That would be terrible. – Teenage Fragile X Carrier, quoted in a study of fragile X carriers

A sacred and often unchallenged ethical belief in the medical genetics community is that carrier testing should be limited to adults, except in diseases like familial adenomatous polyposis where the results have implications for the medical care of young children. It is easy to take the moral high ground here – we should respect the autonomy of young people until they are mature enough to make their own decisions as adults. End of story.

Implicit in this belief are the assumptions that teens are not mature enough to make major life decisions, and more subtly, that health professionals know better than parents what is in the best interests of their children.

Allyn McConkie-Rosell and her co-authors, in a recent issue of the American Journal of Medical Genetics, challenge this belief with a very interesting quantitative and qualitative study of fragile X carrier testing among at-risk teenage girls. The vast majority (51/53) of these girls felt that carrier testing should not be delayed until 18 years of age if the child and family want testing. In reading the comments of these young girls, it is quite clear that teenage minds are capable of thoughtful deliberation about emotionally and medically complicated matters. The belief that teens are incapable of mature thought and philosophical complexity is at best unproven and at worst could lead to long term psychological issues among teens denied testing.

Of course, parents or guardians should have an active role in initiating such requests. They understand their children far better than we ever will. If genetic counselors cut off parents’ requests for testing their children with “Sorry, we will not do it because it is ethically unjustifiable and against clinic policy” it will only result in angry and frustrated families. Not a very good counseling experience, to say the least. The history of professional advice to parents makes it clear that parents rather than professionals are usually more likely to make better parenting decisions.

Sometime, though, parents will want their children tested for the wrong reasons, such as a misperception that the test results will affect medical care of their teen, or, more commonly in my experience, driven by their own guilt and anxiety about possibly having “given” a mutated gene to their children. These situations call for genetic counselors’ best educational and counseling skills to help parents clarify what is driving their requests to ensure that genetic testing is in the best interests of the parents, their children, and their families. And parent and child should both agree on whether or not to be tested.

This is an area that is begging for more research, in the form of case studies and larger investigations. One particularly fruitful group to study prospectively would be fetuses and newborns whose carrier status is incidentally identified during prenatal diagnosis (e.g., a fetus tested for Tay-Sachs that proves to be a carrier) or newborn screening (e.g., cystic fibrosis heterozygotes detected during testing for homozygotes).

In my view, genetic testing should be available to teenagers  who desire it, after genetic counseling of children and parents. No doubt some of you will strongly disagree with me. I am interested in hearing your counter-arguments and thoughts. My favorite people, those who I find most intriguing and rewarding, are those who can make me change my mind.

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Guest Post: Gene Patents- Why should genetic counselors care?

By Ellen T. Matloff

Ellen T. Matloff, M.S. received a Bachelor of Science degree cum laude from Union College, and a Master’s in Genetic Counseling from Northwestern University. Ms. Matloff currently serves as the Director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut and previously worked at SUNY Health Sciences Center in Syracuse, NY. She is board certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors, the American Society of Human Genetics and the American Society of Clinical Oncology.

Should we, as genetic counselors, care about gene patents?

We have plenty of other things to worry about: patient care, publication pressures, administrative responsibilities, growing caseloads, shrinking health care budgets (I could go on, but why raise our collective blood pressure?) — so why, oh why, would we add gene patents to this list?

Because gene patents have a major impact on many things that affect our practice. This includes, but is not limited to:

  • Cost of genetic testing, which influences: Patient access and insurability
  • Market competition, or lack thereof, which affects: Cost (see above), our ability as practitioners (or as a Society) to drive change within commercial genetic laboratories regarding issues such as price setting, marketing, advertising, turnaround time, reporting mechanisms, etc.
  • Clinical research, clinical research, clinical research. It is pretty hard to enroll patients in a study with an extra $3000 price tag per subject. Even a small study of 100 patients would cost more than $300,000 in genetic testing costs alone if patients were to receive their genetic testing results. And as those of us who have written grants know all too well, 100 subjects is a small ‘n’ and $300k is a huge chunk of most available grants.

In short, a strictly enforced patent creates a monopoly. Our patients need a test, we have to order it from one company, and they hold all of the cards. Lump it or leave it.

In the case of BRCA1 and BRCA2 testing, the cost of testing was $1600 in private laboratories in 1997. Twelve years later with the advent of more efficient and less expensive technology, the cost of the testing has not dropped, but soared: $3120 for full sequencing + an additional $650 for BART analysis = >$3770 per patient. Cha ching!

Perhaps in response to rising costs and direct-to-consumer advertising, many insurance companies have tightened their belts and their inclusion criteria for testing. HealthNet tried to drop coverage for genetic testing altogether two years ago, before an angry mob of rioters (also called genetic counselors) bled the story to the press. Medicare will now only pay for testing in a person who already has cancer. Kind of obliterates the whole preventive healthcare angle, doesn’t it?

For all of the above reasons, genetic counselors should care about gene patenting. This is important, its effects are far-reaching, and this is precedent-setting. Educate yourself and educate others.

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Here is a great clip about Myriad’s BRCA patent from the documentary film In the Family.

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