Direct-to-Consumer DNA

Photos by Steve Travarca

Personal genomic testing promises to identify an individual’s future health threats. Are we ready for a glimpse into our DNA? Two Cleveland Clinic experts, in ethics and genomics, discuss the promise and pitfalls of direct-to-consumer genomic tests.

Companies have begun to offer personal genomic testing to consumers online. “Send a saliva sample and learn your risk for disease.” The FDA stopped the sale of one test through Walgreens stores. Why the concern?

Richard Sharp, PhD: Personal genomic testing is different from other types of genetic testing, such as the clinical tests that are sometimes recommended by a doctor based on a person’s family history (see “Test Types”). Personal genomic testing looks at thousands of genetic variants and uses that information to estimate a person’s chances of developing many different diseases. Patients can order this new type of testing directly from several companies, which has caused some people to worry about the medical counseling that customers receive. Personal genomic testing also is so new that there haven’t been studies to show that these tests improve health. Those were the two main concerns that prompted the FDA to intervene.

What needs to be in place for genomic testing to be useful to consumers?

Charis Eng, MD, PhD: We need to know the clinical outcomes of every single change the test shows. Clinical genetic testing looks at high-risk genes with clear clinical outcomes that inform clinical decisions, but personal genomic testing looks for little weak effects in the genome that may or may not say that someone is predisposed to a disease. We may in the future put genomic testing together with family history and other data to get a fuller picture and be able to say your outcome will be X, Y, Z, so we know how to treat you to prevent all these diseases. But we’re not there yet. One way or the other, anyone considering genetic or genomic testing should see a trained genetic counselor first.

Why is there so much interest in genomic testing today?

Dr. Sharp: There’s never been as much interest in disease prevention and wellness as there is today. People are looking for tools to help them do a better job of managing their health. Genomic tests have the potential to become an important tool in promoting healthier choices.

What should the public know about personal genomic testing?

Dr. Eng: Get educated. Go to academic centers and ask to speak to a genetic counselor. We have found that when we educate patients about these products, many will opt out because they realize that there isn’t enough data yet for what they really want to find out about preventing disease.

Dr. Sharp: Some people will find these tests useful and others will not. My advice is to do your homework, and if you’re concerned about a disease that runs in your family, ask your doctor if there are genetic tests that may be appropriate.

Are doctors ready to handle those questions?

Dr. Sharp: Most physicians who trained more than five or 10 years ago had little or no exposure to genetics in their formal training. The public and physicians are starting at the same place. At Cleveland Clinic we’ve started to educate our staff so they can advise patients on where to go and whom to call.

Why is family health history important?

 

Dr. Eng: Family histories can quickly flag patients who need to be monitored more closely. Over the last three years, we’ve designed a patient-centered, web-based, cancer-specific family history questionnaire that takes about 10 minutes to complete. It is being piloted in my cancer genetics clinics. Family health histories are simple and inexpensive, yet very informative. I tell my patients that accurate family health histories are their road map to wellness and prevention. Once whole genome sequencing becomes part of the clinical routine, we could pair it with a family history that is updated every few years. If I see a strong family history for, say, prostate cancer or heart disease, then I’ll look at all the regions in the whole genome sequence associated with the prostate and the heart.

What excites you about the future of genomic medicine?

Dr. Eng: Genomic medicine will provide a truly objective way to personalize healthcare. Proper treatment comes from proper diagnosis, and we all would like to see genomic testing hone diagnoses, helping people choose the right drug and the right dosage for the best effect with minimal side effects, in the future. But we have only 600 physician geneticists in this country. We need 60,000.

Dr. Sharp: As costs come down, it’s likely that we’ll see hundreds of new genetic tests emerge. One related to disease prevention in adolescents. One for people in their middle decades. Others for related types of disease, such as cardiovascular disease. And the good news is that the Genetic Information Nondiscrimination Act went into effect in May 2009. Now it is illegal to discriminate against people in the context of health insurance and employment based on genetic information. That was an important step for genetic and genomic testing to move forward.

Charis Eng, MD, PhD, is Chair and Founding Director of Cleveland Clinic’s Genomic Medicine Institute and holder of the Sondra J. and Stephen R. Hardis Endowed Chair in Cancer Genomic Medicine. She has been appointed to a federal advisory committee on genetics in healthcare delivery and policy, and she is co-chair of its new task force to examine whole genome sequencing for future clinical care.

Richard Sharp, PhD, is Director of Bioethics Research and Associate Director of the Center for Ethics, Humanities and Spiritual Care at Cleveland Clinic. He also co-directs the Center for Genetic Research Ethics and Law at Case Western Reserve University, one of six NIH Centers for Excellence in ethical and legal research.