Genetic Screening in Preventive Care: Advances and Challenges

Tailored health care based on a patient’s genetic code has been at the forefront of medical research in recent decades, ranging from cancer to cardiovascular disease. In an “Ideas and Opinions” article in the Annals of Internal Medicine, Michael F. Murray, MD, describes the potential benefit of routine genomic screening in health care rather than the occasional or experimental use of the approach in a small subset of patients.

Although the majority of patients who would receive genetic screening as part of routine preventive care visits would not glean particularly helpful information for their own health, Dr Murray explained, growing evidence suggests that the benefits associated with genetic screening as a whole could be lifesaving in many at-risk populations. Newborn screening represents a prime example of how genetic screening could be used in routine assessment to gain additional insight into risks as well as susceptibility to certain diseases, thereby enhancing optimized, tailored forms of care.

Patients, research participants, and consumers represent the 3 groups who undergo DNA analysis. Models for using genetic screening in clinical care are lacking, despite the steady movement of consumer-based screening into preventive health care. An at-home pregnancy test is an example of a consumer screening test that is readily implemented into clinical care, yet cohesive strategies for “handing off” genetic screening results and incorporating them into a care plan have yet to be fully established.

Approximately 1% of individuals in the United States have a genetic predisposition to cancer or heart disease, and these individuals could be ideal candidates for genetic screening. “There should be little doubt that individually tailored health care management plans based on DNA analysis are coming,” Dr Murray wrote, “but the timing of their introduction into routine clinical care is contingent on further demonstrations of clinical utility and proven implementation models.”

Disclosures: Dr Murray has received grants from Regeneron and has served on the scientific advisory board for InVitae. Dr Murray has also received personal fees from Geisinger Health System.

Reference

Murray MF. The path to routine genomic screening in health care [published online July 31, 2018]. Ann Intern Med. doi:10.7326/M18-1722