Author Archives: Allie Janson Hazell

Guest Post: The Most Powerful Breakthrough in Genetic Science is…Hope

By Jim Small

 

Jim Small is an entrepreneur, speaker, author and successful real estate investor. A sudden family tragedy led him to discover his life’s purpose and career passion. Jim uses his real estate passion to help others create abundance and fulfill his life’s purpose of helping one million children reach their full potential. Jim is currently expanding his global reach on this mission by partnering with other world class speakers, motivators and industry game changers. Jim continues to speak around the world to groups about his personal journey and how others may find their purpose, passion and prosperity, through his Triumphant Legacy™ program (www.TriumphantLegacy.com).

Our family story and experiences with genetic counselors revolves around our oldest daughter, Sophia. Sophia was born totally typical with high APGAR scores and developed quite normally for her first year life. Then, somewhere between 15 to 18 months old, my wife and I noticed that she was regressing in her engagement with others – in her language and in her social skills — and she continued to deteriorate from there. We took Sophia to therapists and doctors, and the only thing that they could say was that she might potentially have the behaviorally diagnosed disorder of autism. So, for a couple of years, my wife and I tried to help Sophia with therapies, diet and alternative medical treatments, presuming that she had autism… and she really wasn’t getting any better.

A friend advised us to get a full-team assessment at a hospital in California. We took Sophia there for a work up which included neurologists, cardiologists, gastroenterologists, infectious disease doctors, immunologists – the full gamut. These specialists evaluated Sophia and then met as a team. One of the outcomes was to do some additional genetic screening for Sophia. She had already been tested for Fragile X, Rett Syndrome, Angelman and some other things that had all come up negative in the past, so my wife and I reluctantly agreed to do some more blood draws for additional genetic tests. When the results came back, we were asked to return to the hospital to discuss the findings with a neurologist and a genetic counselor. Before the meeting, Audra was told over the phone that Sophia had tested positive for Rett Syndrome and we were then sent the test results.

Not really knowing what Rett was, we waited to meet with the neurologist and the genetic counselor to learn about it. Our appointment was horrible. The doctor was clearly very experienced in neurology and she briefly explained a little bit about the genetic mechanism that causes Rett Syndrome – a mutation of the MECP2 gene on the X chromosome. Then the genetic counselor started to guide the conversation as she handed us a book on Rett syndrome. They both proceeded to tell us all the things that Sophia would NOT be able to do, how horrible her prognosis was, how difficult her life would be and how sorry they were that no treatments were known or forthcoming to help with the situation.

Needless to say, my wife and I left there feeling quite shocked, devastated and powerless. Basically, we went home and waited for our daughter to deteriorate as they said she would, doing nothing to improve her health for the next six months.

Then, as we were trying to treat her seizures (one symptom of Rett syndrome), we ended up seeing a neurologist at a hospital in Massachusetts, who suggested that we meet with a geneticist and a genetic counselor affiliated with that hospital and a very prominent medical school. Naturally, my wife and I were reluctant to do so after our experience at the hospital in California, but we really respected this neurologist, as he was extremely insightful, up on the research and very progressive. So we agreed to see this new geneticist in Boston. In meeting with him, we were given hope for the first time – he explained that there had been a reversal of Rett Syndrome symptoms in mice and that he was of the belief that in the coming years, we would be able to find a mechanism to help girls like Sophia reverse Rett syndrome completely. Moreover, he had been working with girls with Rett syndrome for many years, and told us that girls who presented like Sophia actually have a much better prognosis than what was described to us bythe genetic counselor at the California hospital.

Then his genetic counselor colleague came in to join the conversation. She explained once again the cause of Rett syndrome, and then began to elaborate on how they were looking into trials for particular drugs and treatments that may reduce the severity. Both the doctor and the genetic counselor stressed the many girls they had seen, like our daughter, who ended up having all kinds of abilities that weren’t in the text books and weren’t part of the old school prognosis (which they believed was outdated) and suggested that the future for our daughter was actually quite positive. Although my wife and I respect the first doctor’s and genetic counselor’s prognosis as historically accurate, we were struck with the 180 degree difference between that negative and de-motivating scenario and the hopeful perspective of the second geneticist.

Working with the team in Massachusetts, wife and I have felt very empowered and optimistic about our daughter’s future. Although the research available to both groups of genetic counselors was the same, the presentation of the facts, the future, and the prognosis were dramatically different. We hope that all families experiencing an issue that requires the help of a genetic counselor will have an experience as favorable as our second encounter, where we got hope along with the facts and an understanding of the reality. I think that optimism can make genetic counselors more effective, more empowering and more giving.

With medicine, nobody knows the future. Although experience and literature allows us to be familiar with the past, no one ever knows what scientific and medical breakthroughs will happen over the course of a human lifetime. So, as genetic counselors provide information, help and resources to families, I think it’s critical that they remain optimistic about the potential changes we are going to see in the future and how those will, almost inevitably, make the prognosis for today’s patients affected by genetic disease much, much better.Sophia_and_Daddy

1 Comment

Filed under Guest Blogger

Guest Post: NIPS: A Call to Embrace and Educate!

By Lisa Demers

Lisa Demers is a certified genetic counselor working in a prenatal diagnosis program at Dartmouth-Hitchcock in Nashua, NH.  She graduated from the Arcadia Genetic Counseling Program in 2003.  Lisa has been president of the New England Regional Genetics Group, is a member of the New Hampshire Perinatal Loss Taskforce, and is the proud mother of two little boys who teach her more and more about Star Wars every day. 

I feel like it’s time to show some appreciation for the amazing screening test that has truly enhanced the prenatal screening world.  Non-invasive prenatal screening (NIPS) has taken our prenatal world by storm and is rapidly infiltrating university hospitals and private practices alike.  This is a change (who really likes change?) and it’s fast.   Testing has jumped out of the controlled hands of research laboratory scientists and into the lucrative playing field of investor-backed industry.  But is this a bad thing?

NIPS has taken traditional screening and made it better.  There is no denying that NIPS is a superior screening test.  The benefit of NIPS over traditional screening is acknowledged by the rapid approval of coverage by major insurance plans. I applaud Katie Stoll in her eloquent summary of the discrepant positive predictive value (PPV), but I do not think this area of ambiguity should overshadow the benefits of testing.  The PPV for a “high risk” (or whatever language the report contains) sample, even if it is 11% (using the data in Katie’s initial post), is about the same as a 1 in 9 risk for trisomy 18 using traditional methods.   So is the counseling really very different?   “This screening test suggests a very high risk for trisomy 18, diagnostic testing will tell us for sure”.

Our knowledge about how to best utilize this test and interpret the results is an ongoing process.  This is completely on par with other technologies. At one point, supernumary rings were identified on karyotype with little way to identify the origin.  The argument that we shouldn’t use a technology until we completely understand it is unreasonable.  We need large testing numbers to give us these uncertain results so that we can learn from them.  Ambiguity with test results is hardly a new concept for us.  Genetic counselors deal with this all the time!  Our counseling isn’t really changing; it’s just the same uncertainty coming from a different test.

I argue that this test provides much LESS ambiguity since most women are getting reassuring results.  The number of women who are screen positive is dramatically decreased.   Fewer women being anxious, fewer amnios being considered and performed, and fewer losses of otherwise normal babies.    And why wouldn’t an informed patient want the BEST screening test?   And why wouldn’t providers want to offer it?

I absolutely acknowledge that not all patients are fully informed about NIPS prior to testing, and I hate to think about the ignorance that providers may pass along to patients.  But what genetic counselor hasn’t had a patient arrive at their office with an abnormal screening result thinking that their baby is, in fact, affected?  We hear this endlessly.  And how long has traditional screening been around?  And those results even have a risk estimate listed!  Sometimes I like being the hero in these situations “You mean my pregnancy is at a one percent risk for Down syndrome?  What a relief!”  The misinterpretation of testing results is inevitable.  We should not back away from better testing simply because some people do not understand.

While I agree that I would prefer that the commercial labs present their results with some more obvious notation of the limitations of the testing, no report can eliminate ignorance.  So perhaps our focus can be a shift to better education.  After all, isn’t that we do?  We need to talk with providers in our area and help them understand the test more clearly.  Review with the nursing staff when a referral is sent to us that the results are screening and not diagnostic.  I can tell you that in my own experience, education isn’t always successful because I still have providers who offer universal SMA and Fragile X testing without being able to interpret the results. *Sigh*  But these patients are ultimately referred for counseling, and I consider that a success.

Education at the patient level is important too.  Group counseling sessions can be an effective way to inform the pregnant population, especially about universal topics like screening.  The overwhelming task of education is not unique to prenatal genetic counselors, but to the profession as a whole.  Rather than hold back on a test that is truly superior because providers misunderstand it, why don’t we try to tackle the larger issue of provider education?

What I hope is that the consumers of NIPS can work closely with the industry providers to further study the performance of this technology to better understand cell free fetal DNA and its utility in pregnancy screening.  Let’s work together in educating providers about the testing and the importance of pre-test counseling.  Patients deserve it.  Without the cooperation and participation from genetic counselors we risk delaying universal acceptance of NIPS.  Let’s all jump aboard and steer this train.

4 Comments

Filed under Guest Blogger

FDA Letter to 23andMe: A Genetic Counselor’s Breakdown

FDA letter Nov 22

On Friday, November 22 Food and Drug Administration issued a warning letter to direct-to-consumer genetic testing company 23andMe. Many in the genetics community are experiencing a little déjà-vu this week, with the ensuing discussions in mainstream media and within online communities reminiscent of 2010 when FDA issued warning letters to 5 direct-to-consumer companies that were operating at that time. (Check out this post from Genomics Law Report for a good overview of the issue at that point in time.)

Regulation of direct-to-consumer genetic testing companies is complex and often confounded by thoughts and opinions regarding DTC advertising, DTC genetic testing, the validity and clinical utility of SNP-based panels, consumer rights and privacy, to name a few. I have personally fallen into a rabbit hole of articles, blog posts and twitter discussions in the past few days (see “Recommended Reading” section below). All of these outlets are debating the same issue, but this particular issue has an infinite number of very subtle angles.

The term “direct-to-consumer” conjures up strong emotions for genetic counselors. No doubt you will see some of this played out on The DNA Exchange in the next few days. However, in discussing the most recent FDA letter with a number of people (both colleagues and non-GCs) I’ve realized some basic review and clarification might be helpful. Hopefully this will serve as a nice starting point to frame our discussions on this issue in the days to come.

The full letter can be found on the FDA website here.

The 23andMe response has been posted here.

There are two basic aspects to the FDA  letter:

1. Marketing 

In the FDA’s words “…Your company’s website markets [your test] for providing “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevention” that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer….To date, 23andMe has failed to provide adequate information to support a determination that [your test] is substantially equivalent to a legally marketed predicate for any of the uses for which you are marketing it…”

My takeaway:  23andMe’s marketing materials claim their test can prevent serious diseases. The company does not have FDA clearance nor has it provided the appropriate evidence to make this blanket claim. This speaks most strongly to the clinical validity and utility of SNP-based testing—an issue that hits close to home for a lot of us. I think it is important that the FDA is highlighting the lack of evidence around prevention and predisposition testing for common disease.  However, we need to recognize that 23andMe is also testing for additional variants beyond SNPs.

Anecdotally, I’ve noticed that genetic counselors continue to use the terms “direct-to-consumer genetic testing” and “SNP-based testing” interchangeably, which is both incorrect and adds to overall confusion. Genetic testing for common complex disease (primarily based on SNP information) is still controversial in our profession. However, as noted in the letter, 23andMe is a direct-to-consumer company that is also providing carrier testing for Mendelian diseases as well as the 3 common Ashkenazi Jewish BRCA mutations. To dismiss the 23andMe service by saying “this test doesn’t tell you anything!” undermines some of the routine testing that we do within a clinical setting. One cannot argue that 23andMe’s service “doesn’t tell you anything” and “has the potential for serious harm” in the same breath.

2. Direct-to-consumer health information

In the FDA’s words: “Some of the uses for which [personal genome service] is intended are particularly concerning… For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.”

 My takeaway: 23andMe is providing health information and test results directly to consumers without the involvement of a physician. This could lead to medical mismanagement, “serious injury or death.” I believe the DTC aspect of the testing (in comparison with the SNP-based aspect) is still the biggest challenge to the 23andMe model. Genetic testing for disease causing mutations without appropriate clinical context, family history review and individualized interpretation is where real potential for harm lies.

Suggested Reading (Or, some of the more interesting articles I have come across so far)

Also, if you’re interested in learning more about FDA regulation of medical devices, I found this video on their website.

2 Comments

Filed under Allie Janson Hazell

Work, Life & Flexibility in Genetic Counseling

Work/life balance is one of the perks of our profession. Right?

I remember learning that great work/life balance was a benefit of the profession when considering genetic counseling as a career. I now routinely share this ‘fact’ with students who are interested in learning more about becoming a genetic counselor. In comparison with most of my friends– who work in advertising, pr, law and finance– my work/life balance is incredible. I can put in a full day of work, head to the gym and be home by 7pm to enjoy a leisurely evening. My hours are very predictable – and when I leave work I’m not on my phone all night like so many others I know.  So, last summer when the popular article Why woman still can’t have it all was circulating among my female friends, I read it with some distance

The author Anne-Marie Slaughter, a professor and former director of policy planning at the State Department, challenges the popular assumptions that if a woman 1) has enough ambition, 2) marries a supportive-enough partner and 3) plans her pregnancies accordingly, she can have a successful career in a position of power and nurture a happy and healthy family life all at once.

In her words,

Women of my generation have clung to the feminist credo we were raised with, even as our ranks have been steadily thinned by unresolvable tensions between family and career, because we are determined not to drop the flag for the next generation…I still strongly believe that women can “have it all” (and that men can too). I believe that we can “have it all at the same time.” But not today, not with the way America’s economy and society are currently structured.

The author goes on to argue that having flexibility in the workplace (namely the ability to determine your own schedule and work from home when needed) is one of the single most important factors in helping to balance a successful career and busy home life.

I am currently on maternity leave, and thinking back to this article I realize that the author’s focus on flexibility really stuck with me. While there are many things I enjoy about working in a busy clinical setting, flexibility is not one of them.

F&A June 2013

If I’m not able to make it in for my 9am patient, then it falls on the shoulders of a colleague, pushing back her own 9:30am appointment, which in turn will affect a whole day full of patients. Like many counselors I know, I very rarely miss a day of work unscheduled. But as I look towards the future imagining an ill child or a caregiver who calls in sick—I realize I may no longer have as much control as I used to. I am reminded daily by my giggling and communicative 5-month old daughter that it is no longer just me I have to worry about. I’m learning that my definition of ‘work/life balance’ may be about to change.

Out of curiosity, I went to Professional Status Survey to get a sense of how we as a profession rate our work/life balance.  Looking at the most recent versions of the National Society of Genetic Counselors and the Canadian Association of Genetic Counsellors surveys, it appears that the question has not been formally asked.

Beyond the clinic

Increasingly, genetic counsellors are working in a wider category of roles and environments. In fact, we have used this blog to highlight diverse GC roles in the past. My childless self had previously seen this primarily as a sign of the genetics field expanding. But it now occurs to me, this may also be in part a result of GCs looking to find a professional opportunity that better suits their lifestyle. I recently came across a nice interview on the Counsyl blog about a genetic counselors’ decision to trade-in clinical life to work from home that would support this view.

The trend towards a non-traditional work environment is happening in almost every sector. Many argue that our society is at a turning point, where lengthening commutes and new technological capabilities are prompting employees and employers to re-consider the traditional workday. For instance, Medcan Clinic – my current employer – has recently increased our services to include Saturday clinics. As our society – including our patient population – increasingly values flexibility, our profession will have to continue to adapt. Responding to changing patient and employee schedules will likely become an even bigger focus in the coming years; and as a result we can expect to see the creation of even more non-traditional services, roles and communication formats.

How might the GC profession maintain its positive work/life reputation in a world that increasingly values flexibility?

The medical world tends to lag other professional service industries when it comes to making change. I recognize that the structure of the traditional genetics clinic will not likely undergo any wholesale changes overnight. Nevertheless, I think this is an important conversation for us to start having now. In fact, I’ll be participating in a panel on technology and innovative communication in genetic counseling at this year’s NSGC conference in Anaheim (excuse the shameless plug).

I would love to hear from other GCs who have thoughts and experiences around this topic. Where do you think the GC role currently stacks up for work/life balance? Have you found ways to integrate more flexibility into your role? Where do you see opportunities & challenges for GCs to better manage work/life as our profession evolves?

Leave a comment

Filed under Allie Janson Hazell

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.

Leave a comment

Filed under Guest Blogger

As a Genetic Counselor, Would You Go Public With Your Genome?

A Canadian version of the Personal Genome Project (PGP) was launched earlier this month. This is an initiative that, for one key reason, is likely to have a rippling effect for the genetic counseling profession. Modelled after and in collaboration with George Church and his group at Harvard, the project aims to recruit 100,000 volunteers to have their whole genome sequenced and posted publicly online for the advancement of research. As someone who has followed the US Personal Genome Project from the outset, I’m thrilled that Canadians will now be able to participate in this important research.

So why is the Canadian version of this project so important for genetic counselors specifically? Because the first participant (whom the media has aptly named Canuck One) to bravely volunteer to “bare her genomic soul” and forgo any form of anonymity while doing it, is a genetic counselor. Jill  Davies and her involvement with PGP-Canada was profiled in The Globe & Mail (one of Canada’s largest national newspapers) earlier this month.

Globe and Mail PGP-1

In full disclosure, Jill Davies is a close colleague and friend (and also a previous guest contributor to The DNA Exchange). The Medcan Clinic genetics program has been involved in the PGP-Canada project from the outset, and therefore it is no coincidence that Jill happens to be participant number 1. But it is also precisely the fact that she is a genetic counselor that the PGP team was keen to have Jill step up to the plate. Who knows the potential implications—clinical, ethical, legal and social—of whole genome sequencing better than a GC? Beyond immersing herself into her work (quite literally), Jill’s participation will undoubtedly help raise awareness of the genetic counseling profession, which is something that I think should be celebrated.

Not surprisingly, with the potential to have my own whole genome sequenced hitting closer to home, I’ve been thinking a lot about whether this is something I would go through with, and if not—why?

The Globe & Mail has done an excellent job in asking the general public this very same question. In conjunction with the official start of the PGP-Canada project, the newspaper launched a widespread interactive media series — The DNA Dilemma—running from December 8 to December 22. This is one of the biggest and most comprehensive genomics-related media series I’ve seen. It is really worth the look at the articles and commentary. They have even developed a genomics game: Win, Lose or Genome?

By far the most interesting component to the series for me is the Infographic-type Poll on whether people would choose to have their genomes sequenced. Of the 1000+ respondents so far, a whopping 80% say they would have sequencing, and 70% believe the benefits outweigh the risks (you can filter the results based on age, gender, location etc). As a genetic counselor I find these numbers fascinating (and surprisingly high).

Globe and Mail Poll

My hunch is that if we polled GCs specifically, this number would be lower. There are so many interesting questions about why this might be—is it because we are more informed? Is it because we are a self-selected group who are more attuned (and potentially concerned about) the ethical issues associated with genetics to begin with? If I had the skills to create such a beautifully intricate poll as the one above I would, but I’ll have to make do with the standard DNA Exchange poll to test my theory. So—what do you say? Would you participate in the PGP?

3 Comments

Filed under Allie Janson Hazell

What Genetic Counselors are Talking About

Last week, I attended the National Society of Genetic Counselors (NSGC) Annual Education Conference in Boston. Although I attended talks on a variety of subjects, where possible I chose sessions focused on new genomics technologies and associated issues. There were some common threads tying these discussions together beyond ‘genomics’ itself. Here’s a quick summary of some of the things I observed and learned.

1. Secondary, Ancillary, Incidental – Oh my!

It is no surprise that discussions around the use of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) universally include the question of what to do with the “extra” data—those pieces of information we weren’t looking for, but happened to find. What was surprising are the differences in the terminology we use to describe these extra pieces of data. Jessica Everett, a GC from the University of Michigan Mi-OncoSeq project explained that confusion over this terminology lead her team to decide that they would universally refer to an incidental finding as an unintended piece of information that “falls into your lap” and a secondary finding is extra information you end up finding out, but have to look for.

There are likely some official definitions and designations that already exist here. But it is apparent that we as a GC community currently don’t have a consensus on the nomenclature around this issue.

2. GCs don’t need new skills, but rather need to apply our skills in new ways.

This type of thinking is music to my ears—I love the challenge of applying our skills in new and unique ways. The GC role in pharmacogenomic testing specifically was a sub-theme here. I heard multiple genetic counselors who work in the realm of pharmacogenomic testing say that while they initially believed their role with patients undergoing testing for pharmacogenomic purposes would be minimal, the applicability of our traditional skills and opportunity to provide value to both patients and physicians was far greater than they anticipated. 

3. “Scalability” of the Genomic counseling session

The sheer volume of information and amount of time required to consent patients for WES/WGS technologies was routinely cited as a barrier to genetic counseling in the genomic era. In some cases, GCs plan for a 2+ hour pre-test counseling session, and in most cases there are multiple visits or contacts before testing is initiated. There was also alot of discussion about how best to inform patients about the various types of information that can be learned through genome sequencing technologies. Bioethicist Scott Kim (also from the Mi-OncoSeq project) made a good case for a ‘flexible default’ model for informed consent in these situations.

Consistently GCs commented that when asked ‘do you want to know everything?’ patients and research participants will almost always reply ‘yes– of course I want to know everything!’ However, the use of specific scenarios or examples seems to be required in order to elicit a more meaningful discussion about potential results, and what information patients will decide to opt out of receiving. (This is a topic I’ve previously written about.)

4. Collaboration

Although this may be the least exciting or surprising underlying theme, it is likely the most important. Almost every lecture concluded with a slide highlighting the importance of a collaborative and multidisciplinary approach to genomic testing.

As always, I’d love to hear about others’ reactions and impressions from this year’s AEC. Please feel free to share, below.

2 Comments

Filed under Allie Janson Hazell

Tweeting: A New Dimension to the AEC

I wanted to put together a quick post mid-AEC to highlight a new (and for many, invisible) dimension to this year’s conference.

For those of you attending the NSGC Annual Education Conference in Boston this week, you’re likely keeping busy hopping between talks, committee meetings, networking functions and catching up with old friends and colleagues. You’re listening to experts in our field discuss new and relevant topics in our profession, and exchanging your thoughts on the lectures with the person you are sitting with.

If you aren’t able to attend the AEC this year, you may have perused the preliminary program and made note of the topics, but that may be the extent of your connection to the AEC content.

But, what if those of you not attending could check-in on the ongoing conversations happening at the AEC? What if you could listen in on the highlights from the talks, and hear attendees reactions to the material? You can! Twitter allows instant access to the conference dialogue. For the first time, the conference organizers have designated a Twitter hashtag (#AEC2012) to  help ‘organize’ or ‘amalgamate’ the online conference conversation. Whether you have a twitter account or not– just click on one of the following links in order to access real-time AEC reactions and discussions:

This has benefit not only for non-attendees. As an attendee, Twitter has enhanced the conference experience for me immensely. I love being able to “listen” to others reaction to the same material I am processing. It is like being able to read someone’s conference notes over their shoulder. I’m always surprised by the difference in what others take away from the same information that I am listening to. And I like being able to silently interact with other conference goers (usually strangers) in order to gain access to another perspective.

Laura Hercher (@laurahercher) and I (@alliejanson and @GenoScapeGC) are both at the conference and actively tweeting throughout the day. We are also occasionally tweeting from the @theDNAExchange account. There are a numer of other notable GC tweeters here as well: @ASanSmith, @GeneticCouns and @dcheatherc.

Whether you’re attending the conference or tuning in from afar, I encourage you to join in!

1 Comment

Filed under Allie Janson Hazell

New York Times Weighs in on GC Conflict of Interest

On Saturday the New York Times ran a piece titled Conflict Potential Seen in Genetic Counselors, about whether it is ethical for genetic counselors who are paid by corporate labs to be counseling patients about genetic testing. As any reader of The DNA Exchange will know, the topic of conflict of interest in genetic counseling has been an important one of late for Robert Resta, one of our contributors, who has written here extensively on the subject. The Times article used a quote from a commenter on one of Bob’s earlier posts on the topic (see ‘Are We There Yet’).

Conflict of interest is a contentious and emotional issue among genetic counselors (in fact we’ve received some strong criticism regarding Bob’s posts). Because of its controversial nature, I think it’s a subject we tend to shy away from. But the NYT article exposes a serious gap – there is public discussion happening about our field, that we as an industry appear to be somewhat reluctant to discuss ourselves. The DNA Exchange exists to promote open dialogue on exactly this sort of topic. With coverage by a media outlet at the level of the New York Times, it is clear that this is an issue of growing public concern that we all should be talking about, if not researching more formally.

I’m curious about GC reactions to this article. Did you find the author’s point fair? Is ‘Conflict of Interest’ in genetic counseling something that concerns you? Is it something that you have to think about in your day-to-day work? If so, what should we be doing about it? Please share your comments, or cast your votes (anonymously) below.

1 Comment

Filed under Allie Janson Hazell

Wanted: Campaign to End Genetic Determinism

Today is National DNA Day, a day designated to promote genetics and genomics education. I’ve always found it a little unfortunate that DNA day falls so close to Earth Day (April 22). Clearly the latter is more recognized and celebrated throughout the world. Wouldn’t we do better to celebrate DNA Day six months from now, when it might get a little more attention? But in considering it further, I think we can benefit from the opportunity to celebrate DNA and our planet at the same time. If nothing else, it provides a perfect opportunity to tackle one of the biggest challenges we face in genomics education: Genetic Determinism.

Genetic determinism’ or the prevailing perception that our genes determine health and dictate our behaviour, is a misconception that healthcare providers and the genetics community tackle daily. In reality, we know that genes are only one piece of the puzzle. Our genes plus our environment and the complex interaction between the two must be considered in order gain a realistic understanding of health and disease risk.

A recent reminder of the perils of genetic determinism came in a New York Times article titled ‘Study says DNA power to predict illness is limited.’ This article reported on a study that looked at over 50,000 identical twins in relation to 24 common health conditions to determine how often one or both twins developed a particular condition. As the author reports,

Since identical twins share all of their genes, the investigators could ask to what extent genes predict an increased chance of getting a disease. Using a mathematical model, they reached an answer: not much. Most people will be at average risk for most of the 24 diseases.

So, what would the average person reading this article (or just the headline) likely take away from it? Probably: genes don’t matter.

I’ve found that I can measure how much traction a study has gained by the number of personal emails I receive from friends and family linking to a particular source. Needless to say, this was a particularly ‘hyped’ study. And one that I found quite frustrating, not because of what the findings were, but rather how the findings were being portrayed. I was not alone in this sentiment as evident by the amount of online chatter that ensued. Erika Check Hayden over at Nature News Blog nicely summed up the sentiment:

Geneticists don’t dispute the idea that genes aren’t the only factor that determines whether we get sick; many of them agree with that point. The problem, geneticists say, is not that the study… arrived at a false conclusion, but that it arrived at an old, familiar one via questionable methods and is now being portrayed by the media as a new discovery that undermines the value of genetics.

So, essentially just because your genes aren’t everything, doesn’t mean your genes are nothing.

The fact that genetic determinism continues to persist as a mainstream perception illustrates that we, as the scientific community, simply aren’t doing enough to communicate the ‘genes plus environment’ message to the general public. Or, we need to consider new approaches to delivering this message. As scientist and science writer Christine Wilcox argues:

…scientists pass the buck when it comes to communicating science. We write the papers, but then hand them off to journalists and say “here, explain this to everyone else.” … Then, we gripe and moan when the science is shottily explained or, worse, completely misinterpreted.

This argument can be extended beyond researchers to healthcare providers, and the genetics community in particular. For genetic counsellors specifically, our business is communication. Which brings us back to DNA Day: this day is not only an important initiative, but a yearly reminder that we could all be doing a little (or a lot) more.

This blog post was originally published on www.theGenoScape.com.

1 Comment

Filed under Allie Janson Hazell