Defining the responsibility to recontact research participants with new genetic findings

April 04, 2019

ROCKVILLE, Md. - 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 when new findings emerge that suggest their genetic information should be interpreted differently, which would allow participants to benefit from current genomics advances. The statement was published in The American Journal of Human Genetics (AJHG).

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.

"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," said Yvonne Bombard, PhD, former chair of the ASHG Social Issues Committee and co-lead author of the statement. "Because the research and clinical contexts have different goals, priorities, timelines, and restrictions, we need to consider them separately," she explained.

To meet this need, 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 assembled a position statement containing background information, factors to consider, and a set of 12 recommendations and flowchart for determining the extent of responsibility to recontact. The recommendations were endorsed or supported by the Genetic Alliance, the European Society of Human Genetics, the American Association of Anthropological Genetics, the Executive Committee of the American Association of Physical Anthropologists, the Human Genetics Society of Australasia, and all organizations in the workgroup.

The statement reports a variety of factors that would affect the strength of the responsibility to recontact, and concluded this responsibility is stronger when: If the interpretation of a given variant is related to the condition under study or reasonably expected to affect participants' medical management, ASHG strongly recommends that researchers make reasonable attempts to recontact participants to offer updated results. If the reinterpretation is not expected to affect medical management, recontact is advised rather than strongly recommended.

Conversely, the statement recommends that there is no responsibility for researchers to hunt or scan the genomic literature for changes in variant interpretation, and that any responsibility to recontact should be limited to the duration of research funding. Additional recommendations address the practicalities of informed consent, involvement of institutional review boards, timeliness and protocol of recontact, and structuring of future research studies.

"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.
-end-


American Society of Human Genetics

Related Genetic Information Articles from Brightsurf:

Genetic information can predict predisposition to rare and common blood diseases
Two large-scale genetic studies have identified the bulk of genetic variation that influences medically-important characteristics of our blood cells.

Biomedical research may miss key information by ignoring genetic ancestry
A new study of Black residents of four distinct US cities reveals variations in genetic ancestry and social status that underscore the inadequacy of using skin color as a proxy for race in research.

Combining genetic information with EMRs to pinpoint childhood epilepsies
A team of researchers further bridged the gap between genomic information and clinical outcome data by systematically linking genetic information with electronic medical records, focusing on how genetic neurological disorders in children develop over time.

New imaging method gives insights into how bacteria move and exchange genetic information
Scientists have made a pivotal breakthrough in advancing our understanding of how bacteria move and perform genetic exchange -- that could potentially lead to the development of new antimicrobial drugs.

New tool helps gather useful genetic information obtained from blood, skin tissues
Hoping to refine the usefulness of RNA sequencing, a team of researchers reviewed a database of RNA sequencing results in non-clinically-accessible tissues from organs like the brain and heart.

Computational human cell reveals new insight on genetic information processing
Researchers have developed the first computational model of a human cell and simulated its behavior for 15 minutes -- the longest time achieved for a biological system of this complexity.

Calculating genetic links between diseases, without the genetic data
In a new study, data scientists from the University of Chicago estimated heritability and mapped out relationships among thousands of diseases using data from electronic health records.

Foraging for information: Machine learning decodes genetic influence over behavior
Mice scurry around while foraging for food, but genetics may be the unseen hand controlling these meandering movements.

Bringing information into the cell
Researchers at the Paul Scherrer Institute PSI have elucidated an important part of a signal pathway that transmits information through the cell membrane into the interior of a cell.

Researchers find new genetic information behind urogenital track anomalies
Researchers at the University of Helsinki have developed a new mouse model of congenital anomalies of kidney and urinary tract and disease progression.

Read More: Genetic Information News and Genetic Information Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.