Monday, June 1, 2009

What is this all about?

Germany recently passed a new law significantly limiting the use of direct-to-consumer (DTC) genetic tests, which can only be carried out by a licensed doctor following the patient’s consent. In response, the UK–based PHG Foundation, an independent not-for-profit public health organization focusing on genome-based science and technologies to improve health, calls this law “a regressive and paternalistic approach that takes genetic exceptionalism to an extreme not seen in other jurisdictions”.

Because similar debates are still raging in the US, we decided to explore both sides of the issue. Grant Wood will openly share his results from a DTC genetic service. Dr. Marc Williams will give advice as a medical geneticist and Janet Williams as a genetic counselor. Both will guide Grant through any potential misinterpretations.


Influences on my decision

Hi. My name is Grant Wood. I work in the field of medical genetics and I consider myself very lucky in that I have a fascinating job. Genetics touches all of us, yet we are still at the point where it has this ring of mystique and futurism to it. In many ways we view genetics as future science; our individual and collective medical future. Genetics is still a relatively new field within healthcare, yet when I tell people about my work, they all want to share stories about a genetic-related condition that has affected them and their families.

My work involves building new computer programs that can help doctors and patients collect, track, understand, and use family health history and genetic/genomic information in patient care. Therefore I felt it made perfect sense that I should explore how technology – both gene chips (or DNA microarrays) and the Internet – could combine to give me access as never before to my own biology.

Then another serendipitous event happened. While participating with the 2008 Genetic Alliance conference, I spent a day with Linda Avey, co-founder of one of these new personal genomics companies called 23andMe, visiting and talking with congressional offices in Washington, DC about the Genetic Information Nondiscrimination Act (GINA) of 2008. I learned that 23andMe provides a service where subscribers can receive personalized genetic reports containing information related to 110 traits and diseases. Order the kit online, spit in the tube, send it in the mail. (More on this in the next post).

Linda Avey is in the center. I am on the far left. We are in the Speaker of the House's office in the Capitol building, Washington, D.C.


I started to think about what my questions and expectations would be if I decided to sign up for the service 23andMe provided. My list contained questions and thoughts like:

• Exactly what kind of information can 23andMe provide me about the 110 traits and diseases my report would cover?
• Would I learn something about myself that I didn’t already know?
• Would I discover information that I should immediately take to my doctor?
• Is genetics really a proven science, and what kind of research is still in progress?
• Would it be important for the information in my report to get added to my Intermountain electronic health record?
• Should I share this kind of information with my family members? What about other interested people?
• What kind of cool technology would 23andMe use to show me my genetic report?

The price for the test was high - $999 per test kit - so I put the option of testing on the backburner. A short time after our meeting however, 23andMe reduced the price of their service to $399. I immediately went online and ordered the kit. My journey was about to begin.




Perspective from a medical geneticist




My First Impressions

I'm Dr. Marc Williams. When the first Direct-to-Consumer (DTC) genome tests were made available to the public, my initial response was this is irresponsible and certainly not ready for use. I had concerns that we didn’t have much evidence for the significance of many of the results that were to be reported; we had little information about the accuracy of the testing itself and we didn’t know how to use the information to make recommendations to improve health. In addition people may find out things that they really didn’t want to know as part of the testing (such as finding they carry a mutation in one of the BRCA genes meaning increased risk for breast and ovarian cancer) without access to genetic counseling or that they may pursue expensive investigations based on a finding from testing (as has been seen with whole-body CT scans) that would stress an already overtaxed health care system. These concerns reflect those raised by the American College of Medical Genetics’ statement on DTC genetic testing.

As I reflected more on this I realized that my initial reaction was in many ways a stereotypical “doctor” response. How dare a patient take medical care into their own hands? In reality we are asking, nay encouraging, patients to take more and more responsibility for their own health and heath decisions. It is hypocritical to encourage patients to take responsibility on one hand and criticize them for doing so on the other. While DTC testing may not be a choice I would make as a patient, I must be willing to accept that others have a different perspective. Consider the example of alternative medicines such as herbal preparations. For a long time physicians scoffed at their usefulness and criticized patients who used them. Ultimately we harmed patients as they would not admit to using alternative medicines to us, rightly fearing criticism, leading to adverse reactions due to interactions with prescription drugs. In addition there is emerging evidence that at least some preparations may be beneficial for certain conditions.

If I am open to a patient telling me about the results of their DTC test it allows me to understand what they are concerned about and why. This may provide a teachable moment that will allow the patient to take action to make positive changes in their life. This approach, while not necessarily ‘scientific’ or ‘evidence-based’ reflects our Healing Connections at Intermountain Healthcare, in particular: I listen to you with sensitivity and respond to your needs; and, I treat you with respect and compassion.

I look forward to exploring with Grant his journey through his DTC genetic test results. I’m convinced that if I really listen to what Grant has to say, I may learn more from him, than he will learn medically from me. We hope this series will be entertaining and thought-provoking.

Read the next post - Reading about Consents, Risks, and Privacy - Now the Fun Starts

8 comments:

  1. Thanks for sharing your combined experience, I'll look forward to your observations as this moves forward.

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  2. Two general questions (at least!) circle around this whole area as they do around any activity that involves consulting an "expert", whether it's a person or a system.

    1- How usable is the information for the person seeking it?

    2- How much of the information/interpretation that's being given is limited to the subjective take of the "expert" and how much is coming from consensus data established by the community of experts in that field?

    Also, as Marc used the herbal example, that issue can be used to ask a question about whether the "consensus" data itself is flawed or biased in relationship to other communities of experts, e.g. the prevailing views of Western pharmaceutically-based providers using biochemistry and western physiology as the entry language for studying herbal medicine vs. the community of professional Chinese medical herbal practitioners who have been using the technology for millenia, but whose expertise is derived from an entirely different epistemological base and is expressed in an entirely different technical language.

    At the end of it, it comes down to who actually has the authority claim for genetics, and in a field so newly emergent, how far do those authority claims legitimately extend? It would seem to me that answering that question would be the only way to ultimately figure out if a mail-in direct-to-consumer test panel would be of potential benefit or of harm. That would be the only way to determine what parts of this legitimately complex field are capable of generating data that are directly usable by consumers and which ones require specialist knowledge in order to have any on-the-ground-value.

    Cool blog. I'll enjoy watching it progress.

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  3. Congratulations on your new blog. Glad you are recruiting genetics professionals to serve as your "Sherpas".....Wise decision. I look forward to your blog and will add it to my roll.

    BTW Grant, do you know your HDL, CardioCRP, Blood Pressure and Family History of heart disease? These could be way more valuabe to you than the less than 1% of your genome that you just peeked at.......

    All the best,
    -Steve
    www.thegenesherpa.blogspot.com

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  4. Steve,

    Because of the fact that my father had a triple bypass done, I do know my HDL (not great), CardioCRP (good), and blood pressure (very good). I have learned that these readings, which can change for better or worse over time - unlike my DNA - are more important than the less than one-tenth of one percent of my genome that I currently know. The point you make is key, that the genetic service I did does not replace the standard clinical tests. But, they do not claim to anyway. We plan to address this issue in more depth with future posts.

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  5. bko,

    Really interesting post. In many ways as I look at the realm of genetics and genetic information I increasingly conclude that the "community of experts" has yet to emerge. While I believe that geneticists and genetic counselors can fairly claim expertise in the area of rare single gene genetic disease, it is not so clear in the area of genetic risk for common disease. As you note, we really don't understand what is useful. For the most part we are currently talking about changing health behaviors. This is incredibly hard to do, yet many believe that genetic information will somehow provide the motivation to change that the biomarkers Steve references have not. That's a key area to study. As we walk through Grant's results we'll hopefully be able to put this into some context (and you can decide about whether any of us have any claim to authority).
    I also wanted to share an anecdote to address your epistemological example. I was at a talk where the speaker (an allopathic physician) asked the audience how many believe that acupuncture worked? Most of us raised our hands. He then asked who believed in qi? No one raised their hand. He then stated that if you don't believe in qi you can't believe acupuncture works. How arrogant yet emblematic of many in the Western sciences. We discount empirical observation if we can't understand (or choose to dismiss) the mechanism. A scientist is obligated to assess the validity of the empirical observation, but if it exists then one must use the observation as a starting point to try and understand the mechanism. Only then can we begin to learn.

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  6. Grant - Good for you! I have also been thinking about doing one of those tests. My reasons are similar to yours, but with some added twists. I was an orphan. I kind of know what my lineage is, at least as per the family bibles handed down over the years mixed with some on line public genealogy records, and who knows how accurate those are? However, both of my lines go WAY back to the very very early days of the colonization of America. We go back long before the Revolutionary war. Also, Dad's side fought for Abraham Lincoln while Mom's side was from the deep south, but both sides go back to the earliest settlers. Given the human population inhabiting the east coast in those early days, it's hard for me to believe that my heritage is 100% Northern European, although I am clearly of Viking decent, as anyone who knows me can attest to. OK, so at least if the records are right, I am a descendent of Chaucer - Of Englande to Canterbury they went Chaucer. Which is cool, but I'd be really tickled to see some native American blood or some African American blood floating around in there. I think it would add to my all-American mixed pot religious renegade family story.

    I would like to know how scientifically honest the tests and test results are, both on the genetic SNP interpretation as well as on their ability to geographically locate one's ancestors. I have heard that if you send in samples to several different DTC genetic tests, you'll get several different answers. And of course, I already know that the SNPs they report are usually so minor that they are generally not considered disease indicators even if they are in important genes.

    Finally, as a licensing professional, I'm curious to see how blatantly they are infringing intellectual property. They are, believe me. However, as I said earlier, they are generally reporting minor mutations so no one cares. If they were reporting the important mutations, companies like Myriad or Clinical Data would be on them like an antibody to an antigen. It's sad to think that people believe they are getting BRCA1 and BRCA2 testing when they order these.

    All in all, I hope you are willing to share your opinions about some of these important issues. Thanks for posting, and thanks for inviting comments!

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  7. Marc,

    I enjoyed your response. Several questions come to mind, not the least being the potential effect of commercial imperatives on the integrity of legitimately complex information, but it seems only fair to let the process unfold without prejudging those things.

    One thought, though, may perhaps address our continuing question of authority in the context of direct-to-consumer genetic testing. Your comment about the fact that there is still some distance to go before it can be determined what material is truly useful in this field was refreshingly honest and seems really sensible in light of the speed with which it’s all developing. The distinction you draw between the field’s good understanding of single gene diseases as opposed to the much fuzzier area of genetic involvement in common diseases made me think a lot. It seems to me that there is a rather large difference between simple data (quanta of meaning that represent the relationship of the observed characteristics of some physical entity to an assigned value scale) and information (data integrated into contextual frames that can be deployed to effect change in the equilibrium of a given system).

    In other words, there seems to be an awful lot of territory between having the numbers and knowing what the numbers cook down to in the life of the patient receiving them. How that territory gets navigated, and by whom, seems to me to form the central question around the potential utility of direct-to-consumer testing. I’m hoping that your dialog with Grant will open some of those questions up. As an interested (VERY) non-expert, I’m grateful for the opportunity to eavesdrop on the project and learn from both of you.

    And BTW, with respect to your comments about the idea of qi and its often tortured interactions with mainstream medicine, I think they probably have more commonalities with the current discussion than might be immediately apparent, but that’s another discussion for another blog.

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  8. I'm late getting in on this particular conversation, but upon reading Marc's comments about his initial response as a "typical doctor" I had to smile. It's refreshing to see that this blog appears to be willing to take a deeper look into our own past patterns, many of which may have unwittingly been keeping us stuck in place.

    I was also happy to see the British response to what they viewed as a paternalistic regression. As Marc said so aptly, it is certainly the time and age where patients are in need of and hungering (if not demanding) that they be treated like responsible adults that have the right to be privy to their own information and allowed to participate more fully in the decisions and path of their healthcare.

    Will this require the medical establishment to become better educators and coaches in bringing some patients to a more complete understanding of the ramifications of the information they may access? Yes, but this is part of the empowerment process. For empowerment not only requires that we give access, but that we provide the opportunity for patients to more thoroughly educate themselves so they might participate more fully and capably in making the decisions about their lives and their health.

    It's wonderful to see this discussion taking form and the mechanisms being contemplated and put in place that enable the beginning steps in this process to take place.

    Kudos!

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