The Kaiser Permanente Center for Health Research was awarded $8.1 million from the National Institutes of Health (NIH) to conduct a novel clinical trial using whole genome sequencing to test women and their partners, before they actually conceive, for mutations that could cause rare, but serious diseases in their offspring.

The project is part of the Clinical Sequencing Exploratory Research program at the NIH’s National Human Genome Research Institute, which explores the use of whole genome sequencing in clinical settings. Whole genome sequencing allows researchers to investigate multiple mutations at the same time. In this study, researchers will look for recessive genetic mutations for about 100 rare conditions, including Tay-Sachs and Canavan diseases, which can cause early death in children, as well as Pendred and Usher syndromes, that affect hearing and vision.

In Kaiser Permanente’s press release, epidemiologist Katrina Goddard, Ph.D., principal investigator and researcher with the Kaiser Permanente Center for Health Research commented on the intent behind the study, “We will use whole genome sequencing to help inform couples about their reproductive risks before they conceive. Most of the time couples don’t find out that they carry these mutations until after the mother is already pregnant, or until after the child is born.”

This initiative is more evidence of how NGS is being considered in clinical settings to to make personalized healthcare decisions.  However, as Goddard explained,  “There are still a lot of questions about how to use whole genome sequencing in clinical practice. We don’t know yet if this is the best way to predict genetic risk and we don’t know what impact the information will have on the couples and their families. These are the questions we hope to answer in our study”.

Kaiser Permanente is collaborating with researchers from Oregon Health & Science University, University of Washington, Seattle Children’s Research Institute, Decision Science Research Institute, Inc., and Illumina Inc.

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