title: Whole-Genome Sequencing in Healthy People.
abstract: Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of "next-generation" sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care. Little research has been conducted in this area. We examine the considerable unresolved scientific and ethical issues encountered when considering whole-genome sequencing of healthy people.
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ, and Center for Individualized Medicine, Mayo Clinic, Rochester, MN. Electronic address: nlindor@mayo.edu.
authors.forename: Noralane M
authors.initials: NM
authors.lastname: Lindor
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Stephen N
authors.initials: SN
authors.lastname: Thibodeau
authors.affiliation: Department of Bioethics and Humanities and Department of Medicine (Medical Genetics), Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA.
authors.forename: Wylie
authors.initials: W
authors.lastname: Burke
mesh_terms: D020869:Gene Expression Profiling / Q000941:ethics* / Q000379:methods; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D000071185:Pharmacogenomic Testing / Q000379:methods / Q000592:standards*; D057285:Precision Medicine / Q000379:methods / Q000592:standards*; D017422:Sequence Analysis, DNA / Q000941:ethics* / Q000379:methods