Sequencing finds rare genetic disease risk in one out of five healthy adults

Whole-genome sequencing found risk for rare genetic disease in 1 out of 5 generally healthy patients in primary care. The majority of those findings were not associated with clinical features of the disease in the patients, but prompted some increased costs for evaluation. While some primary care physicians may be able to manage genomic information appropriately, findings could prompt increased health care use with limited clinical value.

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