Category Archives: Allie Janson Hazell

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.

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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?

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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?

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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.

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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!

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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.

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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.

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