title: Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
abstract: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient.
  
  
  
  We categorized gene-condition pairs into groups using a previously developed taxonomy of genetic conditions. Patients could elect to receive results from these categories. A Return of Results Committee (RORC) developed inclusion and exclusion criteria for each category.
  
  
  
  To date, the RORC has categorized 728 gene-condition pairs: 177 are categorized as life span-limiting, 406 are categorized as serious, 93 are categorized as mild, 41 are categorized as unpredictable, and 11 are categorized as adult-onset. An additional 64 gene-condition pairs were excluded from reporting to patients or put on a watch list, generally because evidence that a gene and condition were associated was limited.
  
  
  
  Categorization of gene-condition pairs using our taxonomy simplifies communication regarding patient preferences for carrier information from a genomic test.Genet Med advance online publication 12 January 2017.
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Himes
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Tia L
authors.identifier: 0000-0002-0419-4223
authors.initials: TL
authors.lastname: Kauffman
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Kristin R
authors.identifier: 0000-0001-9883-2224
authors.initials: KR
authors.lastname: Muessig
authors.affiliation: Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
authors.forename: Laura M
authors.identifier: 0000-0002-5506-6168
authors.initials: LM
authors.lastname: Amendola
authors.affiliation: Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
authors.forename: Jonathan S
authors.identifier: 0000-0003-2360-2664
authors.initials: JS
authors.lastname: Berg
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington, USA.
authors.forename: Michael O
authors.initials: MO
authors.lastname: Dorschner
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Marian
authors.identifier: 0000-0002-7177-683X
authors.initials: M
authors.lastname: Gilmore
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Nickerson
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Jacob A
authors.initials: JA
authors.lastname: Reiss
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health &Science University, Portland, Oregon, USA.
authors.forename: C Sue
authors.identifier: 0000-0003-1078-979X
authors.initials: CS
authors.lastname: Richards
authors.affiliation: Northwest Permanente, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Alan F
authors.identifier: 0000-0001-7926-4612
authors.initials: AF
authors.lastname: Rope
authors.affiliation: Northwest Permanente, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Dana K
authors.identifier: 0000-0002-8812-8249
authors.initials: DK
authors.lastname: Simpson
authors.affiliation: Seattle Children's Research Institute, Treuman Katz Center for Pediatric Bioethics, Seattle, Washington, USA.
authors.forename: Benjamin S
authors.identifier: 0000-0002-2671-9860
authors.initials: BS
authors.lastname: Wilfond
authors.affiliation: Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.|Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors.forename: Gail P
authors.identifier: 0000-0002-6710-8708
authors.initials: GP
authors.lastname: Jarvik
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
authors.forename: Katrina A B
authors.identifier: 0000-0001-9535-8993
authors.initials: KAB
authors.lastname: Goddard
mesh_terms: D030881:Disclosure / Q000941:ethics / Q000592:standards*; D059472:Exome; D006580:Genetic Carrier Screening / Q000379:methods* / Q000592:standards*; D005820:Genetic Testing / Q000941:ethics / Q000379:methods / Q000592:standards; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D033162:Incidental Findings; D057240:Patient Preference; D017422:Sequence Analysis, DNA / Q000379:methods