By Diagnostics World Staff
April 4, 2019 | The American Society of Human Genetics (ASHG), along with several co-signing organizations, issued a position statement today outlining whether, and to what extent, there is a responsibility to recontact genetic and genomic research participants.
In two top-level recommendations, ASHG makes a distinction between results that would impact medical management and those that that would not affect management. In both cases ASHG prefers that new results be shared with participants, but “strongly recommends” recontact when medical management can be impacted, while recontact is only “advised” in other cases. The position applies to both primary and secondary, or incidental, findings.
The statement was published today in The American Journal of Human Genetics (DOI: 10.1016/j.ajhg.2019.02.025), and respresents the findings from an ASHG-led workgroup including representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors.
As research progresses and new data emerge, scientific understanding of what it means to have a given genetic variant can evolve, the statement authors wrote. Such changes, if conveyed to research participants with that variant, can provide important information about their health and affect their medical care. ASHG and the science community deeply value the contributions of research participants, without whom many important advances would not have taken place and share a desire for participants to learn about and benefit from the newest findings. At the same time, there are serious practical and logistical challenges to be considered in requiring researchers to monitor scientific literature for changes to clinical variant interpretations and to keep past and current participants apprised of such changes.
The first two recommendations are part of a series of 12 recommendations and flowchart for determining the extent of responsibility to recontact based on background information and other factors. The 12 recommendations include operational suggestions for when and under what circumstances results are returned.
“Researchers have no responsibility to hunt through or scan genetic and genomic data or literature for changes in variant interpretation or to identify new genetic causes of disease, if such was not part of the original study,” the statement authors write [emphasis in the original]. “To do so would be outside the scope of what a researcher owes a study participant and might detract from the primary goals of research.”
The recommendations go on to state that the responsibility to recontact is limited to the duration of research funding, though it is desirable, if possible, after that window.
Recontact should happen within six months, ideally by the same individuals using the same communication methods that were used for the initial return of results. Instances of recontact should be documented. A “good faith effort” should be made, though no responsibility to recontact participants exists when the IRB protocol associated with the study closes or identifiers are stripped, rendering further recontact infeasible.
"Technological advances could help ease the practical challenges of recontacting participants, improving its feasibility for researchers," noted Howard Levy, MD, PhD, co-lead on the statement. Efforts to cross-reference and integrate research databases, as well as to create lay-friendly information and automated notifications of variant reinterpretation, could enable a more self-service model of educating research participants about continued research progress.
In the future, ASHG recommends developing recontact plans for research studies, and consenting recontact carefully. If participants consented to any return of results at the time of original research consent, then consent to recontact for the same type of results is implied, the authors wrote.