Category Archives: Her Nature Posts

Canadians Celebrate 2nd Annual Genetic Counselling Awareness Week

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This week (November 20-26) genetic counsellors across Canada will be participating in the 2nd annual Genetic Counselling Awareness Week (see my post on this topic last year.) The theme for this year’s event is centered around dispelling common myths about genetics.

For a 2nd year in a row I am serving as a co-chair for this initiative, and for the second year in a row I am blown away by the amount of work and thought that GCs have put in to ensuring this week is a success.  Even seemingly simple events, such as organizing a trivia night or movie screening, require an incredible amount of planning and coordination. GCs in Canada are taking time out of their busy lives and are volunteering their time and expertise.

I am hoping to put together a follow-up post after this week is over, with a ‘behind the scenes’ look at GC Awareness Week, in the hopes that it might provide some insight and incentive for other countries to follow suit. But for now I will just leave you with some highlights of what is coming up this week:

  • Genetic Counsellors in Edmonton, Alberta and Winnipeg, Manitoba will be featured on local news programs.
  • Groups in St. John’s, Newfoundland and Ottawa, Ontario will each be hosting a trivia night at a local pub. The GCs in Winnipeg are hosting a similarly themed evening, using clips from popular television shows, to help dispel common myths about genetics.
  • Multiple movie screenings will be occurring across the country. Films being screened this year include: In the Family, Extraordinary Measures, GATTACA and At My Mother’s Breast. In most cases, a genetic counsellor panel discussion will follow.
  • Several centres will be setting up information booths within their institution, in order to liaise directly with patients and hospital staff.
  • Rumor has it an Alberta-based group will be putting together a fun-loving You Tube video this year. Click here for last year’s video from GCs at North York General Hospital.

For a full list of events and info, visit the GC Awareness Week website.

Want to help spread the word? Pass along any relevant info to family members and friends who live in Canada, or use the designated hashtags #GCAwarenessWeek #geneticcounselling and #CAGC when tweeting about GCAW or GC-related issues throughout the week.

*Also posted on theDNAexchange.com

Genomics and the Social Web: A Timeline

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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)

Life: An Update

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So, I have been absent here. Very, very absent. The first post back is a tough one. As a good friend and fellow blogger recently pointed out, coming back from a blogging hiatus can be daunting, as the need to provide ‘the blog post of all blog posts’ seems to increase exponentially with the length of time since last posting (in my case, May!). To be fair, I haven’t been completely absent from the blogging world– I continue to write for and manage The DNA Exchange, but I admit that I have neglected hNhN completely.  So as we near 2011 I have decided to just provide a little update on the past 6 months. And of course, vow to write more often from now on.

Personally, Sean and I have had a big life change: on October 1 2010 we got married! It was an absolutely wonderful day, surrounded by the people we love. I enjoyed the creative aspects of wedding planning, and spent a lot of time consuming blogs rather than writing for them. Sean and I are now both happily enjoying post-wedding and new-marriage bliss. And, as always, continue the nature/nurture debate.

Professionally, I have had some changes too. In early November I started a new position as a genetic counsellor at Medcan, a preventative health clinic in Downtown Toronto. Medcan is privately held, which is a rarity in the Canadian public health care system. The Genetics program at Medcan is currently centered around personal genome testing, and genetic counselling in this arena is a new and exciting role for me. In addition, it exists within a primary care setting. Looking back, ‘Genetics and Primary Care‘ was the topic of one my first posts on this blog back in the summer of 2008, which serves as a reminder to me that this is the kind of role I have been working towards for a long time.

I am still at Adult Genetics at the University Health Network 3 days a week, and spend the additional days at Medcan. While I am still getting my bearings in this new role, I do plan to write a separate post about my transition to genetic counselling for genomic-based testing in the next few months. (For now, if you’re interested in more information about the Medcan genetics program you can read Jill Davies’ post on theDNAexchange.)

See you soon, I promise.

Genetic tests now sold in drugstores! Or not.

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Well, it has been quite a week in the world of genetic testing! For those who haven’t been following the gene drama (or haven’t been able to keep up), I’ve provided a summary of the week’s events below.

Monday, May 10 Pathway Genomics’ test is considered a ‘device’ by FDA

The FDA Office of In Vitro Diagnostic Device Evaluation and Safety, sends a letter to James Plante, CEO of DTC company Pathway Genomics Corporation, pointing out that Pathway’s “Genetics Health Report” product appears to meet the definition of “device,” and therefore requires an FDA clearance/approval number. They request that their approval number be provided. [Of note, Pathway DTC genomic testing has been available online since July 2009].

Tuesday, May 11 Washington Post runs story about gene tests being sold in drugstores

The Washington post runs the story that personal genomic testing company Pathway Genomics was getting set to offer their genetic testing kits at Walgreen drugstores across the country.

Beginning Friday, shoppers in search of toothpaste, deodorant and laxatives at more than 6,000 drugstores across the nation will be able to pick up something new: a test to scan their genes for a propensity for Alzheimer’s disease, breast cancer, diabetes and other ailments.

The NSGC promptly responds, issuing this Policy Statement (pdf):

“Distributing genetic testing through pharmacies will expose more people to its availability. However, people should first meet with a genetic counselor to determine whether genetic testing is right for them and to prepare for what they might learn,” said Elizabeth Kearney, NSGC’s president.

Daniel Vorhaus of the Genomics Law Report was quick to comment on the news, and published an impressive compilation of media and blogger reactions to the developing story.

Wednesday, May 12 Walgreens revokes decision to sell Pathway’s test in stores

Media outlets continue to follow the story, and FDA officials become increasingly vocal about their lack of support for the retail genetic test kit. Late Wednesday night, news breaks that Walgreens has decided they are revoking their decision to stock the genetic testing kits in stores.

In a statement, Michael Polzin, a Walgreen spokesman said, “in light of the FDA contacting Pathway Genomics about its genetic test kit and anticipated ongoing discussions between the two parties, we’ve elected not to move forward with offering the Pathway product to our customers until we have further clarity on this matter.”

Thursday, May 13 Pathway Genomics and others respond

Pathway Genomics issues a press statement acknowledging the weeks events and the genetic counselling services they provide:

We respect and understand Walgreens’ decision and we are communicating with the FDA about the Pathway Genomics InsightTM collection kit…We believe it is very important that anyone interested in a personal genetic test understand the information that will be contained in his or her report. That is why we have on staff Board certified/eligible physicians and genetic counselors that are available to speak with customers about their reports. We also encourage anyone considering purchasing a Pathway product to speak with our counselors.

Others continue to weigh in on the issue. Notably, Dan Vorhaus helps elucidate some of the complex issues surrounding regulation of direct-to-consumer gene testing and points out that personal genome tests are already available through retail outlets, such as 23andMe tests being sold through Amazon.com. The NSGC public policy blog provides a good summary of the issue from a genetic counselor perspective.

Friday, May 14

So here we are, Friday morning, the day that Pathway’s tests were scheduled to hit drugstore shelves. But instead of curious consumers flocking (or not flocking) to their local Walgreens, we are instead right back in the middle of a DTC regulation debate. A debate that seems to me to be incredibly reminiscent of June 2008, when the California department of Public Health issued “cease and desist” orders against 13 DTC companies. I look forward to watching how this plays out.

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Beyond the actual events of this week, what has been so incredible to me is the quick response and coverage of this story within the genetic counseling community. Because I don’t work in a position where I can monitor twitter, I have relied heavily on the NSGC listserv this week in keeping up on the breaking news. So a big thank you to all those who kept the community up-to-date using this private forum. And I’m impressed with the speed at which the NSGC position statement and public policy blog post were put together. If this same situation had occurred a year ago, I highly doubt the public response from the GC community would not have been so urgent or visible.

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Convention versus Possibility, and a recipe for change

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I read an essay recently that presented the concepts of convention and possibility as eternally pitted against one another, on an inevitable crash course. I have been mulling over this concept for a while, and can’t seem to come up with a specific example to refute this theory. And, I actually think it is quite applicable to the current climate of medical genetics.

If I had to choose, I’d side with possibility every time. On the surface it seems that a career in genetics is perfect for someone of this philosophical bent: genetics and (perhaps more appropriately) genomics promise to bring to the world endless possibilities, pushing the frontiers of medicine and society as we know it.  But as with most areas of medicine, there are a significant number of conventions associated with the the day-to-day practice of medical genetics. This, coupled with the extreme focus on possibility in this field certainly creates a source of tension.

An example:

Convention An individual with specific symptoms is referred to genetics. After a complete work-up including medical history, family history and physical exam, the patient is offered genetic testing for one or more genes that are known to be associated with the suspected condition. The testing costs approximately $5500. The results are negative meaning that no disease-causing gene changes were identified. Because the sensitivity of the testing is not 100%, the negative results neither confirm nor rule out the diagnosis. The patient is told to recontact the genetics clinic in the next few years, as we anticipate we will have additional genetic testing to offer in the future.

Possibility For $1000 a healthy individual has their complete genome sequenced– essentially testing of every gene. A massive amount of data is generated, much of which we are not sure how to interpret. The individual may learn some useful information from their genome, and they may not. They may learn about their risks for diseases that they wanted to know about, and they may learn about risks that wish they didn’t know.

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Technology, today’s largest driver of possibility, has a habit of challenging convention (sorry Andy Rooney!) I think this is why I am so intrigued by services such as online and DTC genetic testing, Hello Health and Webicina.

So, how do we avoid an inevitable collision in medical genetics?

Here’s a my proposal for a recipe for change:

2 parts genetics expertise
1 part technology
1 part ethics

mix together, and then stir in

a crumble of convention
a dollop of imagination
a spoonful of collaboration

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Have a recipe you want to share?

Learning from the Naturopathic Model

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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 divulge all the details here, as I am hoping Jill will describe her role in her own words on DNA Exchange soon. 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 “naturopathic doctor” with “genetic counselor/geneticist,” does this seem incredibly plausible to you? It sure does to me.

The Online GC Community Grows!

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Earlier this week I found out that I passed the American Board of Genetic Counseling (ABGC) certification exam. Although the certification itself doesn’t directly influence my role or employment as a genetic counsellor, it is generally a good qualification to have and one that I am proud to have. The news couldn’t have been more timely, as it has given me an extra boost of confidence as I head into my Canadian certification exam next week.

But perhaps just as exciting as the news of passing the exam, is the launch of a new GC authored blog, “Genetic Counselors Questioning Certification,” that is dedicated to intiating and advancing an online discussion about the GC certification process itself. Because the focus of the blog is incredibly specific it will likely not be of interest to those outside of the GC world. However, I think the presence of the blog itself symbolizes a really important shift in our community. Only a year ago I was hard pressed to find other GCs online. In the past 12 months we have created The DNA Exchange and seen the birth of several other GC authored blogs (NSGC presidents blog, Martian Genetics, Gene Trends). I am happy to add Catherine Clinton and Sarah Savage to the growing list of GC bloggers and applaud them for taking the initiative to bring their questions and concerns public. I look forward to seeing how the certification conversation develops as a result.

Building on Our Strengths

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As I prepare to write my American certification exam at the end of August, I haven’t been able to write as much as I’d like. In the mean time, I thought I’d share something I posted on DNA Exchange recently.

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Why we are well poised for tomorrowroad

As part of a committee I recently joined, we were each asked to put together a list of strengths of the genetic counseling profession. Although I’ve written about this before, brainstorming for this project reminded me how incredibly relevant our strengths are in the context of the future direction of healthcare in North America. I thought I’d share a few of my ideas here:

  • Our focus on patient autonomy. There is a huge trend (at least in mainstream media) towards patient-centered care. This article from the New York Times last month is a prime example. It highlights the idea that patient’s no longer want to be told what to do, but are looking for a healthcare provider that will help educate them and involve them in their own healthcare decisions. Assisting patients in making informed decisions for themselves is one of the foundations upon which our profession is built. We are, by default, way ahead of other health professions in this respect.
  • Our focus on prevention. “Preventative medicine” is a buzz term these days, especially given Obama’s healthcare plan, that calls for the promotion of “smart preventative care, like cancer screening.” (This strength was highlighted recently in a list serv discussion.)
  • Our multidisciplinary perspective. Genes are not limited to a specific organ or body part. As the medical paradigm transitions from looking at patients as a series of “parts” (cardiology, nephrology, psychology) toward a more holistic approach, we are well poised to become active participants.

I believe that knowing one’s strengths and learning to capitalize on them is essential, which is one reason why I enjoyed this activity so much. I’m interested to hear others’ perceptions of the ones I’ve listed above, and ideas about how we can build on these strengths to ensure that we maximize our potential.

DNA Exchange: A new blogging initiative

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I’ve been a little quiet here lately. This is because most of my attention has been directed at DNA Exchange, the recently launched group genetic counseling blog. I am really, really excited about this initiative and the response from the genetic counseling community so far has been fantastic. We have a great group of contributors, with diverse opinions and interests, as well as a couple of guest bloggers lined up. It has been a fair amount of work with some unexpected challenges and dilemmas, but overall it is well worth it.

For the next little while, as I figure out how to balance hNhN, DNA Exchange and studying for board exams, my posts might be fewer and farther between. If any prolific bloggers want to send some tips my way, I’m all ears.