Medical genetics medicine has traditionally been used to identify and diagnose rare diseases, but in the last decade it has been increasingly helpful in determining patients at risk for genetically-based conditions who can benefit from preventive health care, says the study's senior author, Beth Tarini, M.D., M.S., F.A.A.P., assistant professor of pediatrics at the University of Michigan Medical School and C.S. Mott Children's Hospital.
"Genetics is not just about rare diseases and specialists. PCPs rely on genetics frequently during preventive care visits - especially when taking family histories and assessing a patient's risk of more common, but chronic, diseases. So the fact that PCPs report many barriers to embracing and performing these tasks is concerning, " says Tarini, who is also an investigator at U-M's Child Health Evaluation & Research (CHEAR) Unit and co-medical director of the Genetics in Primary Care Institute (GPCI), a project of the American Academy of Pediatrics
Tarini and her co-investigators conducted a systematic literature review to assess reported barriers from primary care physicians across multiple practice settings, including pediatrics, family medicine, and obstetrics-gynecology.
Primary care physicians most frequently reported that their knowledge and competence related to genetic medicine is insufficient, according to the study.
Other barriers mentioned most often included a lack of knowledge about genetic risk assessment, concern for patient anxiety, a lack of access to genetics, and a lack of time.
"Shedding light on remaining challenges and misperceptions that physicians continue to experience related to genetic medicine in the primary care setting can provide opportunities for intervention in order to improve the delivery of care," says the study's lead author Natalie A. Mikat-Stevens, M.P.H., project manager for the Genetics in Primary Care Institute at the American Academy of Pediatrics.
Tarini says it is not surprising that primary care physicians cite lack of knowledge most frequently.
"Advances in genetic technology and the discovery of new genetic mechanisms seem to occur almost daily. A PCP's genetics training may be decades old and rusty from lack of use," says Tarini, who is also a member of U-M's Institute for Healthcare Policy and Innovation. "Genetics has historically been viewed as a discipline focused on rare conditions, but recent genomic advances have highlighted that genetics has a role in common conditions encountered in primary care medicine."
Tarini and her co-authors urge that efforts are focused on helping primary care physicians address and overcome these barriers.
Tarini says physicians can be helped by the promotion of practical guidelines, point-of-care risk assessment tools, tailored educational tools, and other systems-level strategies.