title: Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
abstract: Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients. To understand whether expert and patient perceptions differ, we asked women who had received preconception genetic carrier screening in the last 3 years to fill out a survey to rate the attributes (predictability, controllability, visibility, and severity) of several autosomal recessive or X-linked genetic conditions. These conditions were classified into one of five taxonomy categories developed by subject experts (significantly shortened lifespan, serious medical problems, mild medical problems, unpredictable medical outcomes, and adult-onset conditions). A total of 193 women provided 739 usable ratings across 20 conditions. The mean ratings and correlations demonstrated that participants made distinctions across both attributes and categories. Aggregated mean attribute ratings across categories demonstrated logical consistency between the key features of each attribute and category, although participants perceived little difference between the mild and serious categories. This study provides empirical evidence for the validity of our proposed taxonomy, which will simplify patient decisions for results they would like to receive from preconception carrier screening via genome sequencing.
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Leo
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: Carmit
authors.initials: C
authors.lastname: McMullen
authors.affiliation: Seattle Children's Hospital, Seattle, Washington.
authors.forename: Benjamin S
authors.initials: BS
authors.lastname: Wilfond
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: Frances L
authors.initials: FL
authors.lastname: Lynch
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: Jacob A
authors.initials: JA
authors.lastname: Reiss
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon.
authors.forename: Marian J
authors.initials: MJ
authors.lastname: Gilmore
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon.
authors.forename: Patricia
authors.initials: P
authors.lastname: Himes
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: Tia L
authors.initials: TL
authors.lastname: Kauffman
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: James V
authors.initials: JV
authors.lastname: Davis
authors.affiliation: University of Washington, Seattle, Washington.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
authors.affiliation: The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
authors.forename: Jonathan S
authors.initials: JS
authors.lastname: Berg
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.
authors.forename: Cary
authors.initials: C
authors.lastname: Harding
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon.
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Kennedy
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon.
authors.forename: Dana Kostiner
authors.initials: DK
authors.lastname: Simpson
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon.
authors.forename: Denise I
authors.initials: DI
authors.lastname: Quigley
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.
authors.forename: C Sue
authors.initials: CS
authors.lastname: Richards
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Northwest, Portland, Oregon.
authors.forename: Alan F
authors.initials: AF
authors.lastname: Rope
authors.affiliation: Kaiser Permanente Center for Health Research, Portland, Oregon.
authors.forename: Katrina A B
authors.initials: KA
authors.lastname: Goddard
mesh_terms: D000328:Adult; D003657:Decision Making / Q000941:ethics; D059472:Exome; D005193:Family Planning Services / Q000941:ethics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005820:Genetic Testing; D015894:Genome, Human; D006579:Heterozygote; D006801:Humans; D033162:Incidental Findings; D008297:Male; D016742:Preconception Care; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D011795:Surveys and Questionnaires; D009626:Terminology as Topic
keywords: gene carrier testing; genetic condition taxonomy; genetics; genome sequencing; patient perceptions