By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) Dealing with incidental findings uncovered in whole-genome and whole-exome sequencing studies has been a contentious issue in the move to bring next-generation sequencing into the clinic.

A paper published today in Genetics in Medicine finds that physicians generally agree that those findings should be returned to adult patients, especially when medical intervention is possible. They differ, however, in their opinions on whether the findings should be returned to pediatric patients.

"This is the first study to ask specialists in genetics and laboratory medicine about the conditions they would like to see returned to clinicians who order genome sequencing," Robert Green, a geneticist at Brigham and Women's Hospital and Harvard Medical School and co-leader of the study, said in a statement. "It was heartening that the majority of specialists agreed that many incidental findings should be returned."

Co-led by Green and Howard Jacob, director of the human and molecular genetics center at the Medical College of Wisconsin, the researchers surveyed 16 genetics specialists on their recommendations for returning genetic information.

The specialists were questioned about whether they would return known pathogenic mutations, mutations that were likely to be pathogenic, and variants to known disease genes but with unknown consequences, from 99 genetic conditions and disease predisposition genes.

Around 80 percent of the specialists agreed on the return of known pathogenic mutations for 64 different diseases, and all of them agreed on the return of results for 21 different conditions for things like cancer risk and other diseases where there is the potential for medical intervention.

Opinions differed however, on returning results to children. For instance, while all the participants agreed that known variants conferring risk for hereditary breast and ovarian cancer should be returned to adults, only 75 percent thought that information should be shared with children.

Additionally, there was less agreement about what to do with findings that predicted risk for diseases for which there are no treatments, such as Huntington's disease or Alzheimer's.

Around 60 percent of the specialists said that known mutations in the genes for Huntington's disease should be returned to adults, but only 31 percent thought those findings should be returned to children. Half thought that mutations to APOE, which suggests a predisposition to Alzheimer's, should be returned to adults, while 25 percent said that the finding should be returned to children.

See the article here:
Incidental Findings from Sequencing Studies Should be Returned, Say Genetics Specialists

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