Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study

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Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study

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作者：Bettina Meiser ; Ben Storey ; Veronica Quinn ; Belinda Rahman…
关键词：Next generation sequencing ; Panel testing ; Attitudes ; Hereditary cancer
刊名：Journal of Genetic Counseling
出版年：2016
出版时间：April 2016
年：2016
卷：25
期：2
页码：218-227
全文大小：346 KB
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作者单位：Bettina Meiser (1)
Ben Storey (1)
Veronica Quinn (1)
Belinda Rahman (1)
Lesley Andrews (2)

1. 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
2. Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, 2031, Australia
刊物类别：Biomedical and Life Sciences
刊物主题：Biomedicine
Human Genetics
Public Health
Clinical Psychology
Gynecology
Ethics
出版者：Springer Netherlands
ISSN：1573-3599

文摘

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.