NEW YORK (GenomeWeb) – The American Society of Human Genetics has released a new position statement outlining when researchers have a responsibility to recontact research participants to inform them when there have been new findings that influence the interpretation of their genetic results.
Overall, the new ASHG guidelines strongly suggest researchers recontact participants when the change in interpretation would affect medical management and when it is feasible to do so. The guidelines, presented in a position statement in the American Journal of Human Genetics, were developed by a working group of laboratory and clinical scientists, bioethicists, primary care physicians, genetic counselors, and others.
Though there are some guidelines for clinical recontact of patients, the working group said that the recontact of research participants currently occurs on an ad hoc basis.
"While clinical recommendations on this topic have begun to emerge, there is a lack of guidance on the responsibility of researchers to inform participants of reinterpreted results," Yvonne Bombard, the former chair of the ASHG Social Issues Committee and co-lead author, said in a statement. "Because the research and clinical contexts have different goals, priorities, timelines, and restrictions, we need to consider them separately."
In particular, the working group noted that clinicians have an ultimate responsibility to the best interests of their patients while researchers are responsible for generating scientific knowledge.
As more genetic research is performed, Bombard and her colleagues noted that newly generated data could lead to changes in how a particular variant is interpreted clinically. For instance, a variant of uncertain significance could be upgraded to pathogenic or likely pathogenic, or downgraded to benign or likely benign. Additionally, a variant that was earlier missed might be detected.
According to the working group, researchers have expressed concern about keeping research participants informed, but have also noted there are practical and other challenges to doing so, including funding.
In their 12 recommendations, the working group tried to strike a balance between these challenges and researchers' obligations.
For example, the ASHG strongly recommended that researchers recontact participants to provide them with the new interpretation if the reinterpretation is relevant to the phenotype being studied or could affect the participant's medical management. If it is not expected to do so, ASHG then only "advised," not "strongly recommended" recontact.
ASHG also said that the responsibility to recontact research participants only lasts as long as the funding for the project does. After that, it said recontact is "desirable," if there are sufficient funds for doing so.
It also said there is no responsibility to recontact participants if the IRB protocol associated with the study closes or identifiers have been stripped.
But when there is a responsibility for recontact, the ASHG recommended that it be documented, undertaken within six months of reinterpretation, and that responsibility is to make a good faith effort to reach the person.
The working groups also noted the recontact is for researchers to offer updated research results to participants and that research participants retain the right to decline the return of results at that time.
It further noted in its recommendations that researchers do not have the responsibility to "hunt" through genetic or genomic data to look for any such interpretation changes.
These recommendations have been endorsed or supported by additional organizations, including the Genetic Alliance, European Society of Human Genetics, and the National Society of Genetic Counselors, among others.