title: Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study.
abstract: Next generation sequencing (NGS) for patients at risk of hereditary cancer syndromes can also identify non-cancer related mutations, as well as variants of unknown significance. This study aimed to determine what benefits and shortcomings patients perceive in relation to NGS, as well as their interest and information preferences in regards to such testing. Eligible patients had previously received inconclusive results from clinical mutation testing for cancer susceptibility. Semi-structured telephone interviews were subjected to qualitative analysis guided by the approach developed by Miles and Huberman. The majority of the 19 participants reported they would be interested in panel/genomic testing. Advantages identified included that it would enable better preparation and allow implementation of individualized preventative strategies, with few disadvantages mentioned. Almost all participants said they would want all results, not just those related to their previous diagnosis. Participants felt that a face-to-face discussion supplemented by an information booklet would be the best way to convey information and achieve informed consent. All participants wanted their information stored and reviewed in accordance with new developments. Although the findings indicate strong interest among these individuals, it seems that the consent process, and the interpretation and communication of results will be areas that will require revision to meet the needs of patients.
authors.affiliation: Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales Hospital, Low Cancer Research Building, C25, Level 4, Sydney, NSW, 2052, Australia. b.meiser@unsw.edu.au.
authors.forename: Bettina
authors.initials: B
authors.lastname: Meiser
authors.affiliation: Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales Hospital, Low Cancer Research Building, C25, Level 4, Sydney, NSW, 2052, Australia.
authors.forename: Ben
authors.initials: B
authors.lastname: Storey
authors.affiliation: Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales Hospital, Low Cancer Research Building, C25, Level 4, Sydney, NSW, 2052, Australia.
authors.forename: Veronica
authors.initials: V
authors.lastname: Quinn
authors.affiliation: Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales Hospital, Low Cancer Research Building, C25, Level 4, Sydney, NSW, 2052, Australia.
authors.forename: Belinda
authors.initials: B
authors.lastname: Rahman
authors.affiliation: Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, 2031, Australia.
authors.forename: Lesley
authors.initials: L
authors.lastname: Andrews
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007258:Informed Consent; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010342:Patient Acceptance of Health Care; D017060:Patient Satisfaction; D036301:Qualitative Research; D018570:Risk Assessment
keywords: Attitudes; Hereditary cancer; Next generation sequencing; Panel testing