Since completion of the Human Genome Project, advances in molecular technologies have led to an explosion of consumer genetic testing that is revolutionizing the patient-doctor relationship. This shift is making healthcare more focused on prevention and on informed, shared decision-making.

During yesterday’s special session “Consumer Genomics, Direct-to-Consumer Genetic Testing, and Patient Empowerment,” moderated by broadcast journalist Cathy Wurzer, two experts discussed how consumer genetic testing fits into the current paradigm of healthcare. They tackled everything from the differences among testing options to the regulations that can either speed up or slow down their proliferation.

Jill Hagenkord, MD, drew from her experience leading two prominent genetic testing companies, 23andme and Color Genomics. She covered the evolution and outlook of the consumer genetic testing space. The term direct to consumer (DTC) genetics now includes many data points beyond just the traditional assessment of disease risks, from ancestry and trait testing to nutrigenetics and exercise genetics, she noted.

In addition to the DTC 23andme model, there are now several genetic companies that require a physician order but can be initiated by the consumer online. As healthcare professionals, it is important for us to recognize the differences in technologies, their limited clinical validity, and their risks, Hagenkord emphasized.

The differences in penetrance of disease in the high-risk versus general population needs to be understood by both consumers and physicians. Companies are now marketing genetic-based population screening for a small set of CDC Tier 1 conditions, including three variants common in hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia. “If the gene set is selected by medical experts with careful consideration of current practice standards and evidence expectations, it is now legitimate to implement a population screening test for a small set of preventable genetic disorders,” Hagenkord said.

But with hype there also comes harm. The flip side of patient empowerment is that the importance of medical counseling can be undervalued. “It is a double edged sword, and the risks of the lack of information are undersold,” said Theodora Ross, MD, PhD, noting that even clinicians often have a difficult time understanding and interpreting genetic test results.

Ross spoke about the potential harms of uncounseled consumer genetic testing and the importance of the physician and genetic counselor, which have also been featured prominently in the mainstream media. “DTC tests lack a human connection or sensitivity needed to transmit important, and sometimes scary health information,” Ross explained. “We are now seeing more and more discrepant genetic test results that come from different labs. Somebody who is a continuous medical presence needs to help the patients and their families deal with those uncertainties.”

As new information becomes available and variant classifications are updated, it is crucial that test reports are updated and counseled accordingly. This is where direct to consumer testing laboratories fall short. Both experts agreed that the onus is on the medical community and health professionals to ensure that these tools make it to the public in a safe and responsible way.