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Mayo Clin Proc. 2019 Jan;94(1):103-109. doi: 10.1016/j.mayocp.2018.08.028.

Reconciling Opportunistic and Population Screening in Clinical Genomics.

Author information

1
Department of Pediatrics, University of Louisville School of Medicine, Louisville, KY. Electronic address: kyle.brothers@louisville.edu.
2
Section of General Internal Medicine, VA Boston Healthcare System, Boston, MA; Division of General Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
3
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.

Abstract

Opportunistic genomic screening is becoming increasingly common as laboratories adopt recommendations to report secondary genomic findings. In parallel, interest in using genome sequencing as a population screening test has grown rapidly. We consider here 3 potential applications of genome sequencing for preventive medicine: (1) provider-ordered predispositional testing in healthy adults, (2) indication-based testing with opportunistic screening of secondary results, and (3) population screening in the public health context. We conclude that despite superficial similarities, there are important and fundamental differences in the way medical risks and benefits can be addressed in these 3 contexts. Recommendations to report secondary genomic findings should not be interpreted as an endorsement of population genomic screening. Ongoing work is developing the evidence that will be needed to fully justify current and future initiatives in population genomic screening. Ongoing work is developing the evidence that will be needed to fully justify current and future initiatives in population genomic screening.

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