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Issues concerning direct to consumer genetic tests that make medical claims – what do physicians think?

Destry Sulkes, MD

Co-founder

March 9th, 2011

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.

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

Terminology reminder

Direct to Consumer

• 1997 – FDA – method of advertising prescription drugs to consumers who continued to need a physician’s prescription to obtain the drugs

Direct Access Testing

• CLIA lab tests require physician orders – some state laws name a short list of safest tests a consumer may order without a physician involved

Over the Counter

• FDA – approvals can include availability to consumers in a retail setting, without a physician involved

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?

Any type of genetic test

Types of genetic tests

Result mis-interpretation

Genetic tests in my practice

Ongoing gap in knowledge

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