1. The views and statements expressed here are provided for informational purposes and do not necessarily reflect those of Medivo, the Alliance for Continuing Medical Education, nor their representatives.

2. Issues concerning direct to consumer genetic tests that make medical claims – what do physicians think? Destry Sulkes, MD Co-founder March 9th, 2011

3. Agenda – issues to be addressed by surveyed MDs (1)The risks and benefits of making clinical genetic tests available for direct access by a consumer without the involvement of a clinician (i.e., without a prescription), including consideration of different categories of tests that would support differences in the regulatory approach. Clinical categories include: (a) Genetic carrier screening for hereditary diseases (e.g., cystic fibrosis carrier screening); (b) Genetic tests to predict risk for future development of disease, in currently healthy persons (e.g., tests to predict risk of developing breast or ovarian cancer); and (c) Genetic tests for treatment response prediction (e.g., tests to predict whether individual will respond to a specific drug). (2) The risks of and possible mitigations for incorrect, miscommunicated, or misunderstood test results for clinical genetic tests that might be beneficial if offered through direct access testing. (3) The level and type of scientific evidence appropriate for supporting direct-to- consumer genetic testing claims including whether it should be different than that required to support similar claims for prescription use clinical genetic tests.

4. My day job  Nationwide, board-certified, credentialed, trained physician network ->1.1m lab tests conducted in 2010 -Overseen for targeted populations with lab testing needs -SAS-70 audited, HIPAA & Sarbanes-Oxley compliant  Physicians get more patient visits with current lab test results in hand for better clinical decisions, higher quality scores, improved patient care  Patients don’t need to schedule a visit, make a co-pay, nor take off from work to get an updated lab test result which they can to take to their local clinician Physicians opt in to have lab data mined, under- treated & undiagnosed patients engaged, and visits increased from patients with abnormal results Consumers directly engaged to get appropriate lab tests when convenient, sent education & offered telephonic support to discuss their results Clinical Consumer

5. Terminology reminder 1997 – FDA – method of advertising prescription drugs to consumers who continued to need a physician’s prescription to obtain the drugs Direct to Consumer CLIA lab tests require physician orders – some state laws name a short list of safest tests a consumer may order without a physician involved Direct Access Testing FDA – approvals can include availability to consumers in a retail setting, without a physician involved Over the Counter

6. Survey to active primary care physicians, 148 responses Who should order genetic tests with medical claims? How should the tests be ordered for my patients?

7. Any type of genetic test

8. Types of genetic tests

9. Result mis-interpretation

10. Genetic tests in my practice

11. Ongoing gap in knowledge

12. Clinical scenario  Joe, 55y.o. male  Has a history of atrial fibrillation  Taking Coumadin (warfarin)  Orders genetic test with no physician involved as a gift from his wife  Gets unexpected information on his Coumadin, turns out he has a genetic variant and his report, amongst many pages of information, medical references, and medical terminology, includes the term “resistant”  Strongly considers stopping his Coumadin since he interprets genetic test results to mean the drug isn’t working for him  Calls MD to ask advice before taking un-informed action, re-assured that his INR levels have been therapeutic for many months so he should stick with the current dosing regimen and keep taking the drug to help prevent his atrial fibrillation from causing potentially devastating blood clots