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.

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?

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.

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.

A fun image via popurls.com

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Why we are well poised for tomorrow

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.

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.

Cause for concern?

I read a lot about direct-to-consumer genetic testing, and there is little that I read these days that catches me by surprise. So, when I read that 23andMe started selling their services in Southern California outpatient health centers, I didn’t really blink an eye. Until I read this:

Those who purchase the service at these facilities will also receive a 30-minute educational session with a PPH nurse, who will answer questions about genetic testing using educational materials developed by 23andMe. Referrals are provided to genetic counselors, but the education session is not genetic counseling.”

I guess I appreciate that 23andMe made the effort to explicitly state that they are not providing genetic counseling services. But it seems to me that they are going to great lengths not to provide genetic counseling. This system implies that the education piece can be done completely separately from the counseling piece.

I see a fundamental difference between not providing genetic counseling to an online customer vs. putting a customer face-to-face with a healthcare provider and deliberately not providing any counseling. More on this difference later. For now, I’d be interested to sit in on one of these educational sessions. Do the nurses have any additional training in genetics? Is there a protocol for identifying those patients who would benefit from a referral to a genetic counselor? Are online customers ever provided an option for a referral to a genetic counselor? Anyone who can provide clarification, it would be greatly appreciated.

FIVE REASONS GCs SHOULD BLOG

1. Personal development. It is easy to become caught up in the minutia of our everyday lives. Blogging demands that we consider the bigger picture, a viewpoint that I feel is essential.
2. Professional development. Create opportunities. Scan this list of blogger’s favourite stories for the infinite ways that blogging can benefit your career. Network, without the expensive conference fees.
3. Enhance the visibility of our profession. As a small and relatively unknown profession, we can benefit from the exposure.
4. Contribute to (and help define) a global conversation. Clearly, genetic counsellors have a lot to say. But all too often our online contributions tend to be reactive, rather than proactive. So why not be the one to start the conversation?
5. Stay relevant. The web has revolutionized the way in which people communicate and connect. As I have said before, for such a cutting edge field, we are surprising stagnant when it comes to innovation with the counsellor-patient interaction. Becoming more active participants in online conversations will enable us to adapt and stay relevant in our community.

I am happy to report that very soon a GC-authored group blog will be a reality! Thanks to some hard-working like-minded colleagues, the blog will be up and running soon. Please give me a shout if you’re interested in getting involved. Otherwise, stay tuned…

In his own words

Your job as an informed consumer of healthcare is to make sure that the
benefits outweigh the risks. The stakes are too high for you to assume
that your doctor knows this…Demand the facts and make informed decisions. Your life depends on it.

I posted a comment on the article directly, but thought I would elaborate a little bit here. I think this argument particularly interesting in the context of a genetic counselling session. Part of my job is to outline the benefits (such as providing valuable information for family members) and the risks (such as the potential for future insurance discrimination) of pursuing a genetic test. After reviewing the risks and benefits,  we will ask the patient if he/she would like to proceed. I have always personally felt this to be a strength of my profession. Based on Dr. Zeiger’s argument above, we are ahead of the game.

However, I occasionally get the sense that people are confused by this process because it goes against the general flow of most other medical appointments. Also, there are some people who would prefer not to hear any of the risks, benefits and limitations of the test. Instead, they are only interested in hearing what we think they should do.

I don’t think there is any right or wrong way to be a patient. But if you align yourself with the patient empowerment camp, you’ll find like-minded healthcare providers in your genetics clinic. If you’d rather not hear the details, it could be a frustrating experience for you.