Researchers hope that a new study on whole-genome sequencing (WGS) will yield new insight into how this information should be delivered and how it is being used. The Kaiser Permanente Center for Health Research (Portland, Ore.) recently won an $8.1 million National Institutes of Health (NIH) grant to study the use of WGS for preconception carrier screening. The project will explore the impact of WGS information on patients. Study participants will be members of Kaiser Permanente in Oregon and Washington who already have an order from their provider to receive preconception genetic testing. Researchers will use WGS to look for recessive genetic mutations for about 100 rare conditions—some of which can be fatal in children, like Tay-Sachs and Canavan diseases, and others like Pendred and Usher syndromes that affect hearing and vision. Throughout the study, couples will be asked to fill out surveys about their experiences, including what information was most helpful, how they want the information presented, and how they use the data. “Some prospective parents will want information about each of these conditions, but others will only be interested in learning their risk for some of the more serious diseases,” said Benjamin Wilfond, M.D., from Seattle Children’s Research […]
Researchers hope that a new study on whole-genome sequencing (WGS) will yield new insight into how this information should be delivered and how it is being used.
The Kaiser Permanente Center for Health Research (Portland, Ore.) recently won an $8.1 million National Institutes of Health (NIH) grant to study the use of WGS for preconception carrier screening. The project will explore the impact of WGS information on patients. Study participants will be members of Kaiser Permanente in Oregon and Washington who already have an order from their provider to receive preconception genetic testing. Researchers will use WGS to look for recessive genetic mutations for about 100 rare conditions—some of which can be fatal in children, like Tay-Sachs and Canavan diseases, and others like Pendred and Usher syndromes that affect hearing and vision. Throughout the study, couples will be asked to fill out surveys about their experiences, including what information was most helpful, how they want the information presented, and how they use the data.
“Some prospective parents will want information about each of these conditions, but others will only be interested in learning their risk for some of the more serious diseases,” said Benjamin Wilfond, M.D., from Seattle Children’s Research Institute, the study’s co-principal investigator, in a statement. Additionally, incidental findings that meet criteria for actionability and validity will be returned to the patients, the researchers say.
While WGS has the potential to aid in diagnosis of serious disorders, additional evidence is needed to understand how WGS data should be reported. For more information on the return of WGS findings, please see Inside the Diagnostics Industry on page 5
