IRP researchers find many people want secondary genomic findings after initially refusing

Thursday, July 29, 2021

New study brings into question current policies on receiving secondary genomic findings

A study published today by researchers at the National Institutes of Health revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their minds after their healthcare provider gave them more detailed information. The paper, published in Genetics in Medicine, examines people's attitudes about receiving secondary genomic findings related to treatable or preventable diseases.

The study was led by scientists at the National Human Genome Research Institute (NHGRI) and the National Institute of Environmental Health Sciences (NIEHS), both part of NIH.

With the broader adoption of genome sequencing in clinical care, researchers and the bioethics community are considering options for how to navigate the discovery of secondary genomic findings. Secondary findings that come out of genome sequencing reflect information that is separate from the primary reason for an individual's medical care or participation in a study. For example, the genomic data of a patient who undergoes genome sequencing to address an autoimmune problem might reveal genomic variants that are associated with a heightened risk for breast cancer.