Consensus Needed on Recontacting Patients With Updated Genetic Results

By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies

The majority of U.K. clinical genetics services report that they recontact patients or family members about new findings relevant to prior test results. However, recontacting occurs largely in an ad hoc fashion and not systematically as part of routine clinical practice, according to a study published online Feb. 18 in Genetics in Medicine. Recontact, when it occurs, is the result of new, clinically actionable information. There is an urgent need, the authors say, for more research on the practical and ethical implications of recontacting to inform guidelines.

As genomic medicine evolves, new targeted treatments available and updated classification of variants of unknown significance may mean previously tested patients can benefit from updated analysis of their genetic tests. As genomics is further integrated into clinical practice, it is expected that recontacting will become an increasingly important issue that needs to be addressed.

“There is no professional consensus in clinical genetics about whether, or how, former patients should be recontacted when new genetic information relevant to them or their family members arises from the use of new technologies,” write the authors, led by Daniele Carrieri PhD, from University of Exeter (United Kingdom). “A [previous] survey of regulations and practices of genetic counseling in 38 European countries found that recontacting was among the least covered topics in both national legislation and applied practice guidelines.”

More information is needed regarding both the ethics and practical considerations of recontacting patients. For example, debate exists about who should be responsible for facilitating recontact—genetics service providers, primary care providers, laboratories, or even patients themselves.

In the U.K. study, researchers conducted an online survey (October 2014 to July 2015) of the clinical leads of the United Kingdom’s 23 clinical genetics services. The 20 respondents included geneticists and genetic counselors.

The researchers found that the majority of U.K. services (19 of 20) reported that they recontact patients and their family members as a result of significant new information. However, 16 of 20 report recontacting generally occurs in an ad hoc fashion when an unplanned event causes clinicians to review a file (a “trigger”). These triggers included availability of either new tests or new results interpretation, family follow-up, reproductive relevance, new clinical guidance, or reclassification of variants of unknown significance. Only three services routinely recontact former patients and a total of seven services developed procedures for recontacting. These recontacting practices vary with some informing the primary care physician, some contacting the patient directly, and the rest using clinical databases. One service reported that in practice they would recontact only if new information applied to only a small group or an individual patient, because of the workload involved in recontacting large numbers of patients.

Interestingly, more than half of the services were unsure whether formalized recontacting systems should be implemented. Some suggested patients should bear greater responsibility in the recontacting process. Legal implications and a lack of resources were also cited as reasons to not recontact.

More than half of services (12 of 20) indicated they do not routinely ask patients about their recontacting preferences as part of the procedure for obtaining informed consent for genetic testing. They cite a lack of recontacting resources as the reason.

For more on returning genetic test results, please see the March issue of Diagnostic Testing & Emerging Technologies.