title: Public views on participating in newborn screening using genome sequencing.
abstract: Growing discussion on the use of whole-genome or exome sequencing (WG/ES) in newborn screening (NBS) has raised concerns regarding the generation of incidental information on millions of infants annually. It is unknown whether integrating WG/ES would alter public expectations regarding participation in universal NBS. We assessed public willingness to participate in NBS using WG/ES compared with current NBS. Our secondary objective was to assess the public's beliefs regarding a parental responsibility to participate in WG/ES-based NBS compared with current NBS. We examined self-reported attitudes regarding willingness to participate in NBS using a cross-sectional national survey of Canadian residents recruited through an internet panel, reflective of the Canadian population by age, gender and region. Our results showed that fewer respondents would be willing to participate in NBS using WG/ES compared with NBS using current technologies (80 vs 94%, P<0.001), or perceived a parental responsibility to participate in WG/ES-based NBS vs current NBS (30 vs 48%, P<0.001). Our findings suggest that integrating WG/ES into NBS might reduce participation, and challenge the moral authority that NBS programmes rely upon to ensure population benefits. These findings point to the need for caution in the untargeted use of WG/ES in public health contexts.
authors.affiliation: 1] Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada [2] Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Bombard
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Fiona A
authors.initials: FA
authors.lastname: Miller
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Robin Z
authors.initials: RZ
authors.lastname: Hayeems
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Carolyn
authors.initials: C
authors.lastname: Barg
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Celine
authors.initials: C
authors.lastname: Cressman
authors.affiliation: Department of Family and Community Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: June C
authors.initials: JC
authors.lastname: Carroll
authors.affiliation: Department of Epidemiology and Community Medicine, University of Ottawa, Toronto, Ontario, Canada.
authors.forename: Brenda J
authors.initials: BJ
authors.lastname: Wilson
authors.affiliation: Department of Epidemiology and Community Medicine, University of Ottawa, Toronto, Ontario, Canada.
authors.forename: Julian
authors.initials: J
authors.lastname: Little
authors.affiliation: Centre for Genomics and Policy, Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
authors.forename: Denise
authors.initials: D
authors.lastname: Avard
authors.affiliation: Department of Political Science, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Michael
authors.initials: M
authors.lastname: Painter-Main
authors.affiliation: 1] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada [2] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Judith
authors.initials: J
authors.lastname: Allanson
authors.affiliation: 1] Quebec Blood Newborn Screening Program, Department of Medical Biology, CHU de Quebec, Charlesbourg, Quebec, Canada [2] Department of Molecular Biology, Medical Biochemistry and Pathology, University of Laval, Quebec, Quebec, Canada.
authors.forename: Yves
authors.initials: Y
authors.lastname: Giguere
authors.affiliation: 1] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada [2] Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
mesh_terms: D000293:Adolescent; D000328:Adult; D002170:Canada; D003430:Cross-Sectional Studies; D059472:Exome; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007231:Infant, Newborn; D020407:Internet; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening / Q000379:methods*; D010358:Patient Participation / Q000706:statistics & numerical data*; D011639:Public Opinion; D017421:Sequence Analysis; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires; D055815:Young Adult