Tag Archives: genomics

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.


Filed under Allie Janson Hazell

On The Old Saw: That Personalized Medicine Will Cost Money In Theory But Will Be A Money-Saver In Practice*

June, 2011 marked the 10th anniversary of the great ‘Mission Accomplished’ moment of the Human Genome Project, when President Clinton, with no regard whatsoever for his own personal safety, stood directly in between Francis Collins and Craig Venter to announce the completion of “the most important, most wondrous map ever produced by humankind.”  In November, in honor of the occasion, the American Museum of Natural History, in partnership with the Council for Responsible Genetics, hosted a panel discussion entitled “The Human Genome and Human Health – Will the Promise Be Fulfilled?”  This was an opportunity for four very smart people to recap the discussion of everything that hasn’t happened as predicted in the last 10 years (Oh, the missing heredity!  Oh, the shortcomings of personal genomics!) and why, in retrospect, this was all entirely predictable, as things generally are in retrospect.  And then the two scientists on the panel predicted that we are on the cusp of great things and the two social scientists on the panel warned that great things come at a steep price and we all agreed, and why not?  After all, we almost always are, and they almost always do.

The thing about making predictions is that it is hard to get it wrong if you go with generalities (it’s always something!) and even harder to get it right, if you are going after specifics.  Thousands of people will have a heart attack this year.  The guy sitting in front of you with the ten pounds of jelly donut hanging over his belt buckle?  Hard to say.  So we in the prognostication business cling to certain reliable, gospel truths.  Technology will get faster and cheaper every year!  Understanding pathophysiology will lead to cures!  You will meet a tall, dark, handsome stranger!  No – sorry, that one isn’t us.  New studies will illuminate the relationship between genotype and phenotype!  Hallelujah.

Here’s another one: personalized medicine will save us money!  Can I get an amen?  It’s something we hear all the time, in medical journals and newspapers and political speeches.  “The savings from personalized medicine,” said a man in the audience at the panel discussion, nodding his head with conviction, “how soon we will see that?”

“Well,” said Dr. Robert Green, renowned neurogeneticist from Beantown (Hah-vard, of course) “I am not convinced that it will save us money.  I think it might cost us money.”  You could almost hear the band stop playing.

Is he right?  The Personalized Medicine Coalition cites savings as one of the intrinsic advantages:  “The cost of health care in the United States is on an unsustainable upward climb. Incorporating personalized medicine into the fabric of the health care system can help resolve many embedded inefficiencies, such as trial-and-error dosing, hospitalizations due to adverse drug reactions, late diagnoses, and reactive treatments.” (The Case For Personalized Medcicine, 3rd Edition.)

But think about it.  Someone comes into your office carrying their personal genomic printout from 23andMe or Navigenics or whoever comes next.  They have an increased risk of Condition X.  What do you suggest?  Step 1: increased screening and testing.  Well maybe the testing modalities are not that good.  Too bad.  You suggest them anyway, because it is downright cruel to tell a person they have an increased risk of the dreaded Condition X and that THERE IS NOTHING TO DO ABOUT IT.  Why do we send people who are BRCA 1 or 2 positive for bi-annual screening of their ovaries?  Because it is a great screening test?  Noooo.  Because it is all we have to offer?  Bingo.

And remember, that printout is going to contain multiple increased risks.  So, step 2: return to step 1, and repeat.

Now, conversely, someone comes into your office with a paper saying that they have a decreased risk of Condition Y.  Do you tell them to stop doing screening?  Skip their annual physical?  Start smoking cigarettes?  Noooo.  Because you know perfectly well that SOMEONE with exactly this genotype is going to get Condition Y, and you don’t want to be responsible if it turns out to be THIS GUY (see Paragraph 2 on the challenges of prognostication).

We are forgetting the medical equivalent of Moore’s Law: that visits to the doctor result inevitably in EXPONENTIALLY MORE VISITS TO THE DOCTOR.  Call it Dr. Moore’s Law: Medical Care Generates Additional Medical Care at a Rate that is Exponential.

Now, please, don’t get me wrong.  I realize that, at times, personalized medicine is going to save us money.  Pharmacogenetics improving the use of medication will save time, money, and lives.  Preventing certain forms of chronic disease like diabetes, if we find a way to intervene for those most at risk, will save a fortune.  But right now, the savings are much more speculative than the costs.  A reflexive adherence to the dogma that personalized medicine saves money creates a hype that can only lead to disappointment.  Making medicine better is a huge goal: making medicine solvent is too much to ask of any fledgling field.  Feeding the hype is tempting, because it generates the sort of excitement that brings in attention and funding.  But ultimately, propagating a dogma that generates unrealistic expectations will snatch defeat from the jaws of victory, as our real-life success stories are weighed against the myths of our own making.

*Gratuitous Kant reference.  Philosophy students: please enjoy.


Filed under Laura Hercher

Genomics and the Social Web: A Timeline

(As posted on www.hernaturehisnurture.com)

I thought I’d share this timeline that I put together recently for a presentation on the social asepcts of genomics. Although clearly not an exhaustive list of events, I still find it interesting to see the major milestones in genomics side-by-side the evolution of the social web.  Not only does this provide a potential explanation for why the genomics industry has developed the way that it has, but it helps to illustrate the relationship between genomics and social media: openness, connectivity, patient autonomy and citizen science.


(click on image for larger view)

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Digesting the Scripps DTC Study Results

Last week preliminary data from a Scripps Health study, looking at effects of DTC genomewide testing, were published in the New England Journal of Medicine (link to pdf article). The study represents the first published data of this kind. Up until this point, the dialogue surrounding the potential benefits and harms of DTC testing has been mostly anecdotal guess-work. So, needless to say, these results are important. Media outlets were quick to report that ‘consumers can handle the truth’ and that testing has no impact on health behaviour.   But, beyond snappy headlines, these results warrant a closer look. I thought I’d give a quick run-down of my reaction here, in the hopes of getting a good discussion going.

In full disclosure, I recently joined The Medcan Clinic in Toronto as a genetic counsellor. We offer personal genome testing using the Navigenics platform in the context of a comprehensive genetics assessment (see ‘Putting GC into DTC’ guest post from last year for details on this model.)  As you can imagine, I am particularly interested in these findings.

Some important things regarding study design:

  • Study subjects participated in health assessments (assessing dietary fat intake, exercise behaviour, anxiety symptoms and uptake of screening tests) using an electronic survey tool. No physical exam or blood work was taken into account in assessing baseline or follow-up parameters here.
  • These results represent data from the baseline assessment and a 3-month follow-up. This is a 20-year longitudinal study, so essentially this data is the tip of the iceberg.
  • The study protocol used the Navigenics Health Compass testing, but Navigenics did not provide any financial support for the study, nor were they part of the study design, analysis of data or manuscript preparation.

The most interesting points (as I see it):

  • At 3-month follow-up, there were no significant health behavior changes made by study participants measured by amount of fat intake and exercise behavior, except for in the 26.5% of participants who reported sharing their results with their doctor. These participants did have lower fat intake and increased exercise activity.
  • Those who shared their results with a Navigenics genetic counselor only (10%) did not show any significant behavior change.
  • At 3-month follow-up, there was no significantly increased anxiety or test related distress. Whether or not an individual had genetic counseling did not affect this parameter.

What I take from this:

  • Sharing results with a physician is more likely to impact health behavior. This lends evidence against the direct-to-consumer model.
  • As genetic counselors, maybe we need to be more focused on the potential for us to add value to consumers of genome wide testing, and less focussed on the potential psychological harms of the testing.
  • We all know these tests do not take into account family history. There is a role of GCs to help consumers understand their risks in the context of their family history, to assist consumers in sharing this information with their doctors, and to work with general practitioners to help integrate this information into their practice.

What I can’t wait to see:

  • More long term data! This is predisposition testing combined with 3-month follow-up info. I am curious to see whether more subjects decide to share this information with physicians down the road (presumably many did not have doctor’s visits scheduled in the months immediately following receipt of their results). I’m also curious about whether consumers or physicians will use this information to guide future investigations, when these subjects experience an issue requiring attention.

There are obviously a huge number of issues beyond those I’ve highlighted here. Please share your thoughts and reactions below.


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Learning from the Naturopathic Model

I recently sat down with Jill Davies, a genetic counselor who is doing some really interesting work with genomics and preventive medicine in the primary care setting.  I won’t get into the details here, as I am hoping Jill will describe her role in her own words on DNA Exchange in the next little while. But our meeting has my wheels turning and has given me some new found inspiration about future career possibilities.

Coincidentally, the evening before my meeting with Jill, I attended my first naturopathic medicine appointment. My new family doctor has a patient share with an in-house Naturopathic Doctor (ND), in which my electronically stored medical records can easily be shared between the two. I’ve always been a little curious about naturopathy, and the pure ease of this system provided the added boost to follow through and try it.

During my hour and a half appointment with the ND we discussed in detail my medical history, family history, health concerns and general health goals. My main reasons for seeking naturopathic services are:

  1. the prevention of disease
  2. optimizing my health

As I discussed these goals with the ND it struck me that these very same objectives could drive me to seek personal genome services. I’ve always thought about personal genomics from an academic perspective, and to my surprise, never really put myself in role of the consumer. I’ve certainly thought about the consumers, but always as some abstract group of people most commonly referred to “early adopters.” So for the first time I could envision these services not just as a DTC internet purchase or as a function of specialty medicine, but as part of the primary care setting.

It is not my intention here to debate the efficacy of nutrigenomic products (such as Carolyn’s The DNA Diet, for example) or even the use of genomics in naturopathic medicine, but instead present the current model of naturopathic medicine as a potential model for personal genome services.

Consider this:

People seek naturopathic medicine services for a number of personal reasons. They meet with a professional with specific training in naturopathic medicine, and discuss their concerns. The naturopathic doctor then uses whatever “tools” they feel are most useful to address those concerns. Sometimes the knowledge gained from this service will be used to compliment the patient’s primary medical care, and sometimes not. In settings with a patient-share system with a family doctor, any test results can be easily shared between the two providers to enhance patient care. Generally, the patient can claim at least part of the cost of naturopathic medicine services from their private health insurance plan.

If you read the paragraph above again and substitute “personal genome” for “naturopathic medicine” and “genetic counselor/geneticist” for “naturopathic doctor,” does this seem incredibly plausible to you? It sure does to me.


(initially posted on herNaturehisNurture)

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Communication in the Genomic Era

Last month the Genomics Law Report, a blog about the “intersection of genomics, personalized medicine and the law,” launched a series called “What ELSI is New?” They invited guest commentaries from various disciplines to provide a short post on what they felt was the most important ELSI issue facing the fields of genomics and personalized medicine. If you haven’t had a chance to peruse the series of commentaries, I’d definitely recommend it. I love the idea of looking at an issue from 360 degrees.

In full disclosure, I was very excited to be invited to contribute to this series. And you can find contributions from familiar players such as the NSGC Board of directors and Sharon Terry of the Genetic Alliance here and here. In considering the series in it’s entirety, I was struck by how many submissions centered on communication: between scientists, physicians, patients, the public. Below are a couple of excerpts I found particularly relevant to the field of genetic counseling.

From Chris Gunter of the HudsonAlpha Institute for Biotechnology:

I am struck by the absolute hunger of the public to understand genomics and personalized medicine… I propose our field engage in our own form of personalization: using education and media in all forms to convert the energy of the public into an army for science…

From Mathew Harper of Forbes:

…if genomics is really going to impact medicine, we’re going to have to start bridging the gap between the companies and scientists doing this early work and the traditional medical establishment…23andMe’s big contribution has been to start this conversation, but we’re still a long way from figuring out how genomics will fit into medical culture, no less into the regulatory framework.

From Zoe Mitchell and Dr. Gavin Harper of Oxford Nanopore Technologies:

As we enter an era of personalized, genomic medicine, the understanding and communication of probabilities is likely to be a stumbling block, not only for the public but for clinicians too…How to provide context, interpretation and counselling around these complex sets of probabilities is a new challenge in statistics, ethics and psychology.

I realize that the importance of communication isn’t news to anyone in the genetic counseling world. However, I like that it seems to be a focal point for the early thought leaders in the genomic era. This, in turn, will hopefully make our job of ensuring that our voice is heard in this discussion, just a little bit easier.

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