How and when to talk to patients about genetic testing

Primary care providers are practiced in starting conversations about sensitive health topics. Yet genetic testing remains uncharted territory for many, making it hard to know how to broach the subject with patients.

David Gasperack, DO

"We sometimes hesitate because we didn't learn about genetic testing during training. But genetic testing has changed the game of preventive medicine, and we need to start having these conversations," says David Gasperack, DO, family medicine doctor and senior vice president of primary care and population health at WellSpan Health.

Dr. Gasperack shares tips for how to explain genetic testing, when to bring it up and how to address common concerns patients have. One of those concerns is often cost — The Gene Health Project at WellSpan Health offers free genetic testing to anyone over 18, providing important screening for hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia. Patients who test positive are offered one free genetic counseling appointment at WellSpan Health.

How to frame the conversation

Patients may think that genetic testing is useful only if they have a family history of certain conditions. But genetic testing can help everyone. “Many important genetic diseases occur for the first time in a person. Because the test results don’t change over time, any adult can benefit regardless of health status or family history," Dr. Gasperack says.

Primary care providers are the first point of contact for most patients, making providers key in explaining why genetic testing matters. The following talking points can help start the conversation:

• We’re learning more about how genes affect health. A simple test can help us provide more precise care.
• This test can show whether certain medications might work better for you and when to plan screenings.
• Even if you’re healthy, genetic testing can help us catch silent risks early.
• You don’t need a family history to benefit: most people who test positive don’t have one.

Concrete examples demonstrate the value for patients. One of Dr. Gasperack's patients tested positive for familial hypercholesterolemia, leading to a lipidologist consultation and personalized medication changes. His total cholesterol dropped by half — from 248 to 123 — in a year, lowering his risk of heart attack and stroke.

When to bring up genetic testing

The short answer: Start the conversation early and mention it often. Most patients don’t bring up genetic testing on their own. A simple discussion can help them understand why the conversation belongs in primary care.

Natural opportunities to discuss genetic testing include:

• Annual physicals
• Medicare Annual Wellness Visits
• Chronic condition follow-ups
• New patient visits

How to address common concerns about genetic testing

Patient hesitation often stems from fear and lack of understanding, not disinterest. To help build patient trust, acknowledge their concerns with clear explanations.

Who will see my data? Only the patient and their care team have access. WellSpan Health uses strict data security and privacy measures.

Will genetic testing affect my insurance? Health insurers cannot use genetic results to deny coverage. Life insurance and long-term care insurance laws vary, so patients should consider this issue before testing.

Is testing expensive? No, testing is free through The Gene Health Project, and an initial counseling appointment is available for positive results at no cost.

Will a negative result change my current care? No. A negative result suggests no increased genetic risk, but patients still need routine mammograms, colonoscopies and other guideline-based screenings.

Do I want to know about future health risks? Some patients are unsure. Acknowledge that it’s a personal choice and point out that early information enables earlier action. Additionally, other family members may benefit from having this information. This knowledge can be lifesaving if it involves conditions the project tests for.

The project currently screens for three Centers for Disease Control and Prevention (CDC) Tier 1 genetic conditions:

• Hereditary breast and ovarian cancer syndrome, which increases lifetime risk of breast cancer to 45%-85% and ovarian cancer to 10%-46%
• Lynch syndrome, which increases lifetime risk of colorectal cancer up to 80%
• Familial hypercholesterolemia (FH), which significantly increases blood levels of LDL cholesterol and coronary artery disease risk at a younger age (50% of men with untreated FH will have a myocardial infarction by age 50, and 30% of women will have one by age 60)

How patients can access no-cost genetic testing

The process is simple: Direct patients who have expressed interest to The Gene Health Project webpage. There, they can learn more, complete consent forms and provide their blood or saliva sample.

Patients don’t need health insurance to participate and they can live anywhere in the U.S. Patients will receive:

• Screening for three high-impact, CDC Tier 1 conditions
• Clear results, positive or negative, and an explanation of the findings
• Follow-up from a WellSpan Health specialist for any positive result
• One free genetic counseling appointment, if desired, in person, by phone or via telemedicine
• Access to ancestry and nonmedical trait information, such as hair color and caffeine sensitivity

Testing through The Gene Health Project helps patients identify genetic risks today and provides genetic information to guide their care for years to come. Once a patient’s sequencing is complete, their results can be queried whenever new treatments, screening recommendations or medication decisions arise.

The Gene Health Project reflects WellSpan Health's commitment to personalized medicine: One size fits one. Genetic testing helps bring that philosophy to life. It's a scientifically grounded approach to keeping people healthier, longer.