Why the rise of DNA testing is creating challenges — and an opportunity

Twenty years ago, virtually all people seeking genetic testing were individuals diagnosed with diseases possibly linked to their genetic makeup. Today, millions of people order genetic tests to learn about their ancestry, as well as to understand what their genes say about their future health.

This rapid growth has created what some might see as a big problem and others might see as an opportunity. The problem? There hasn’t been a corresponding increase in genetics education and training health care providers about it, meaning that many people are reaching out to health care providers who are ill-prepared to incorporate genetic test results into clinical practice. The opportunity? Results from genetic testing can help health care providers engage with their patients on a deeper level about personal health risks, promoting health, and preventing disease.

Help may be on the horizon. A team representing the National Society of Genetic Counselors, an association of thousands of genetic counselors across the country, published guidance in early January for genetic counselors and other health care providers to handle what the authors call elective genomic testing: results from DNA tests people seek out on their own — as opposed to tests ordered by their doctors for a specific reason — and subsequently bring to their health care providers.

These tests are often obtained by apparently healthy individuals who wouldn’t qualify for conventional diagnostic genetic testing, and can even be done outside of traditional health care settings, using direct-to-consumer DNA tests like 23andMe, the company I work for, and others. The results of elective genomic tests can include information about risks for rare or common diseases, whether an individual is a carrier for a disease, or pharmacogenetics — how genetic information influences a person’s response to medications.

The new guidance from the National Society of Genetic Counselors recognizes that people not only want this information, but millions already have it and are turning to genetic counselors or their doctors with questions. One recent YouGov survey found that as many as two in 10 Americans have already had a genetic test, and 65% of those surveyed said they’d want to test even if it meant they could learn they had a serious health risk.

People who seek elective genomic testing may find it difficult to understand the results on their own. The results of a survey that I and several colleagues from the Icahn School of Medicine at Mount Sinai conducted showed that 85% of genetics professionals, including genetic counselors and medical geneticists, felt that elective genomic testing could improve health outcomes. Yet almost the same percentage felt there was a risk that people could misinterpret their results. While genetics professionals have unique expertise in this domain, there are concerns with the small size of this workforce and its ability to meet current and future needs.

Companies that offer elective genomic testing could offer genetics-based health services. 23andMe offers consults for a select number of genetic risks. However, there are challenges to providing genetics-based health care at scale.

Clinicians may also be hesitant to integrate into their decision-making information that does not come from a traditional diagnostic setting, such as results from direct-to-consumer genetic testing companies. There are often good reasons for that: questions about accuracy and the utility of results in guiding clinical decisions, for instance. But health care providers may be missing opportunities to use genetic insights in combination with more traditional clinical tools to engage with patients around health and tailor their care.

Most health care professionals today have not been specifically trained in genetics and are not adequately prepared to address elective genomic test results with their patients. Some education and training resources for medical students, physician trainees, and established physicians are starting to address this gap, but there is still a long way to go. With genetic information now affecting many areas of medicine, all health care providers, regardless of specialty, need to be equipped with the right knowledge, support, and resources to integrate this information into their practice.

This is particularly true in light of the rapid emergence of polygenic risk scores, which use not just one or a handful of genetic variants but sometimes hundreds or even thousands of them to estimate the risks for common diseases like heart disease, diabetes, and some types of cancer. Polygenic risk scores offer incredible potential applications to clinical medicine, but even for medical geneticists and genetic counselors leveraging these new and complex tools requires better training regarding these tests and their results.

A recent practice resource from the National Society of Genetic Counselors that specifically looks at polygenic risk scores outlines a good approach to appropriately communicate and contextualize these scores in clinical practice. Similarly, the American Heart Association has offered guidance around polygenic risk scores for cardiovascular diseases. These practice resources can help bridge a gap between patients looking for answers from their health care providers about their genetic data and how it affects their health.

The emergence of better guidance for health care providers interested in gaining genetics knowledge is a promising step toward personalized health care, which aims to support individuals in attaining and maintaining optimal health and well-being, and to enable shared decision-making between patients and clinicians by jointly considering personal preference and clinical needs. But more is needed to scale genetics knowledge broadly across health care specialties to ensure that genetic information is interpreted and used appropriately in routine clinical care and to usher in the long-promised new age of personalized health care.

Noura Abul-Husn is an internist and medical geneticist and vice president of genomic health at 23andMe.

The story has been updated to reflect the correct name for the National Society of Genetic Counselors.