Tag Archives: Navigenics

by | January 17, 2011 · 9:38 AM

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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by | March 16, 2010 · 8:15 PM

Guest Post: Putting GC into DTC

Jill Davies is a Genetic Counsellor and the Director of Genetics at the Medcan Clinic, Canada’s leading preventive health care clinic. She has over 10 years of experience in genetic counseling and has worked in partnership with Dr. Lea Velsher (medical geneticist) to develop a preventive genetic service at Medcan.  Read her full bio here.

We’ve spent a lot of time discussing why DTC genetic testing shouldn’t be available, but I think we’re beginning to come to terms with the fact that consumer genetic testing is here to stay.  Rather than criticize, why don’t we look at embracing the technology and building a framework around how it can work?

For the past 4 years, I have worked at a private medical clinic in Canada .  More specifically, I have worked at a preventive healthcare clinic, where we focus not on health care as an expense, but as an investment.   Believe it or not, there is a large market for preventive health care. This growing area of medicine aims to focus on detecting disease early, when there is opportunity for treatment and improved outcomes.  A large part of this concept is health education, of which genetics education – understanding how genetic factors play a role in overall risk for disease – is often overlooked.

Family history is of course an important component of understanding one’s potential genetic risk and this is still the best place to begin any genetic assessment.  When I started at Medcan more than four years ago, my job was to meet with people as part of their annual medical and help them to understand their genetic risk based on family history.  The vast majority of conditions that people were concerned about were complex diseases, like cancer, heart disease and Alzheimer’s.  Conditions where I might rarely see an indication of inherited risk, but most often spent my time counseling around risk factors for common diseases.  Although I knew the information we were providing was important, only a portion of clients found value in this genetics education piece.  Many others found the information to be lacking – they wanted something more tangible.  They wanted genetic testing.

About a year ago, we started having discussions with Navigenics, a company who employs genetic counselors and who’s SNP panel is carefully vetted by a large team of scientists and geneticists.  Yes, I spent some time researching the other DTC companies, but it quickly became clear to me as a genetic counselor that only one company had figured out the right formula – as their slogan says “There’s DNA, and then there’s what you do with it”.  For those of you who haven’t had the opportunity to see a full Navigenics patient report, I encourage you to try to get your hands on one – its good!

We took a look at this report and thought “how can we build on this?”  As we’ve already established, there is clearly a market for preventive health and my experience was definitely telling me that people wanted more than just a family history review.  So why not combine family history, with personal genome testing technology?  Better yet, why not offer pre- and post-test genetic counseling sessions too?  This way, individuals have the opportunity to learn about the test in advance (risks, benefits, limitations, insurance issues) and also have a qualified professional to walk through the results and help interpret those results in the context of the family and medical history.

The biggest complaint about DTC testing to date has been the lack of qualified professionals to help individuals understand what the information means.  Although there are still limitations to our understanding of the clinical application, I don’t think we give consumers enough credit in their understanding of probability and risk stratification.  And I don’t think we give ourselves enough credit in our ability to counsel around these complex issues.  We’ve been doing it for years.  This is just a new framework in which to use our skills.

The uptake of our service has been very successful with our clients.  I’ll be the first to point out that we have a fairly unique patient population – high income earners who are already interested in proactively managing their health.  Anecdotal trends so far though indicate a low level of anxiety and a high degree of satisfaction with our program.  A program which allows the technology provided in a DTC test to be made available in the framework of genetics “best practice.”

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