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Scientists expand genetic screening to include rare medical disorders

Whole-genome sequencing enables couples to make informed reproductive choices
illustration showing a blue screen with genome sequencing letters, and a hand pointing to the letters
Using whole-genome sequencing techniques, researchers may soon be able to offer future parents more information about their children than ever before. (Getty Images)

Parents-to-be may soon have a broader understanding of their child’s genetic makeup well before conception. While current carrier screenings -- tests that assess parental genetic risk factors – are able to identify the risk for common disorders, they often overlook rare, and potentially serious, medical risks for newborns.

Using whole-genome sequencing techniques, researchers at OHSU in Portland, Oregon, have effectively expanded the genetic screening processes to include more of the human DNA, broadening the understanding of potential genetic outcomes.

The results of the clinical study are published online in the American Journal of Human Genetics.

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Sue Richards, Ph.D.

“We are essentially casting a very large net over a lot of different clinical conditions,” said the study’s senior researcher Sue Richards, Ph.D. “Now we can look at hundreds of genes, not just a handful. This means providing future parents more information about their children than ever before.”

To conduct the research, 131 women and 71 male partners were tested for more than 700 genetic disorders, and of those, 93 percent requested results data specific to any detected disorder, whether mild or severe, that may impact their children, said Richards, a professor of molecular and medical genetics in the OHSU School of Medicine. Similarly, 99 percent of study participants wanted to know about medically actionable findings that might affect their own health.

“This tells us that people value such information to make their own choices about the future,” continued Richards. “Our goal is to empower individuals by providing them the knowledge they need to make informed decisions and reproductive choices.”

This research was conducted in collaboration with Kaiser Permanente Northwest and the University of Washington. Katrina Goddard, Ph.D., is the principal investigator.

The study was funded by the National Human Genome Research Institute (grants UM1HG007292 and U01HG006507) and the Clinical Sequencing Exploratory Research consortium (grant U01HG007307).


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