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).
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.
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