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Commentary Calls for Translational Studies to Advance Personal Genomics

NEW YORK (GenomeWeb News) – An increased emphasis on translational research will be necessary in order to ensure that personalized genomics delivers on its promise, according to a commentary published today in the August issue of Nature Genetics.
In the commentary, a group of scientists led by Colleen McBride, a researcher in the Social and Behavioral Research Branch of the National Human Genome Research Institute, write that regulators and the medical and scientific communities need a better understanding of how information from genetic tests is used in the clinic, how useful these tests are, and how genetic knowledge is viewed and used by patients before genetic technologies find their way into widespread use.
McBride and colleagues, including Sharon Hensley Alford of Henry Ford Hospital, Robert Reid and Eric Larson of the Center for Health Studies, and Andreas Baxevanis and Lawrence Brody of the NHGRI’s Genome Technology Branch, note that there has been a “flood” of genome-wide association studies recently, but warn that “the foundation needed to understand the public and clinical utility of these risk markers lags behind.”
Currently, there is a “paucity” of research on how to present genetic risk information to individuals, families, and healthcare providers, the authors explain, yet these tests are currently marketed to consumers “based on the assumption that obtaining personal genetic information may have value to the general public.”
Furthermore, they write, this marketing activity is happening “against a backdrop of increasing media interest in new genetic discoveries, including near-weekly pronouncements of ‘the discovery of the gene for’ a particular health condition.”
In the meantime, the authors note, there are still numerous outstanding questions about how to gauge the clinical utility of these tests.
As a result, McBride and colleagues call for “a targeted research program to support translational genomics” that would “evaluate the potential of genomic products to improve health.”
This research hopefully would seek to answer a number questions about genetic susceptibility testing, such as how genetic test results might be transmitted to patients in ways that are understandable, how an individual’s interpretation of test results might change over time, how these test results impact the lives of people who receive them, whether the knowledge of an “at risk” allele within a family affects family interaction, and how to inform individuals that new research may have changed the interpretation of their genetic variants.
Answering these kinds of questions will involve interdisciplinary collaborations involving many types of researchers, including biologists, social scientists, ethicists, psychologists, and health service researchers, the authors explain.
As an example of a “starting point” for this type of research, McBride and colleagues discuss the Multiplex Initiative, a project they are leading that plans to recruit 500 individuals whose genomes will be analyzed for 15 genetic variants that are associated with increased risk for eight common diseases.
The initiative will examine social and psychological differences between who opts to be tested and who does not, how test results are interpreted, and if receiving results lead subjects to seek out other personal risk information such as family history or behavioral risks.
The initiative is only “a modest first step ... toward understanding whether healthy individuals use genetic susceptibility testing in ways that could benefit their health," but McBride and colleagues expect it to “answer basic questions” about who takes these tests and who will most likely be the “early adopters of genetic susceptibility testing.”
The authors note that the field of personal genomics has "entered a period where only rigorous experimentation can provide the types of information needed to determine whether genetic susceptibility testing should become part of the accepted standard of care."
They warn that "plunging forward" into widespread genetic testing without performing translational studies will not only "not inform and advance the field," but could "yield a situation where technology alone will drive the market, resulting in products that are not responsive to public health priorities, are limited in reach, and are without benefit to the individuals and populations in greatest need."

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