Factors Influencing Sharing of Personal Genetic Testing Results with MDs

Factors that influenced patients' decision to share personal genetic testing results with their primary care physicians (PCPs) included perceived PCP engagement or interest, and clinical utility of the test results.

HealthDay News –  Many individuals who undergo direct-to-consumer (DTC) personal genomic testing (PGT) do not share the results with their primary care provider (PCP), according to research published online March 1 in the Annals of Internal Medicine.

Cathelijne van der Wouden, PharmD, from Utrecht University in the Netherlands, and colleagues describe the characteristics and perceptions consumers who undergo DTC PGT and those who discuss their results with their PCP. Participants were surveyed before and six months after results. Data were included for 1,026 respondents.

The researchers found that 63%of respondents planned to share their results with a PCP. At the six-month follow-up, 27% and 8% reported having shared their results with a PCP or with another health care provider, respectively. Reasons for not sharing results included that results were not important enough (40%) and lack of time (37%). Overall, 35%of those who discussed results with their PCP were very satisfied with the encounter and 18% were not at all satisfied. Themes identified in these encounters included actionability of the results or use in care, PCP engagement or interest, and lack of PCP engagement or interest (32%, 25%, and 22%, respectively).

“The proportion that shares results is expected to increase with time after testing as consumers find opportunities for discussion at later appointments or if results become relevant as medical needs evolve,” the authors write.

Several authors disclosed financial ties to the biopharmaceutical industry.

Summary and Clinical Applicability

According to this study, a number of patients purchasing direct-to-consumer (DTC) personal genomic tests (PGTs) believe that these test results can be medically interpreted and used to improve the status of their health. 

The decision to formulate a treatment plan based on a test result is made after considering the sensitivity and specificity of that test, factoring in patient-specific factors, and assessing the magnitude of any potential benefit gained from intervention. The concept of “testing for the sake of testing” has been addressed in recent years, as the utility of automatic hospital reflex testing or “general admission labs” has been reevaluated.  When evaluating the clinical utility of DTC genetic testing, clinicians should examine how the results may support changes in treatment to address modifiable clinical risk factors. 

Since most DTC PGTs are not standardized, brand-to-brand variations in test results may be unfamiliar to clinicians, which may impact the ability to have informed, evidence-based genetic counseling conversations with patients. Patients may likely benefit from being given an objective statement of the specific limitations of DTC genetic testing, in addition to the general statement found on certain non-FDA regulated products that reads , “this statement has not been evaluated by the FDA. This product is not intended to diagnose, treat, cure, or prevent any disease.”

Summary and Clinical Applicability Statement by Corinna Panlilio Sison, MD


van der Wouden CH, Carere DA, Maitland-van der Zee AH, et al. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing. Ann Intern Med. [Epub ahead of print 1 March 2016] doi:10.7326/M15-0995