Acceptability of, and information needs regarding, next-generation sequencing in people tested for hereditary cancer

a qualitative study

Bettina Meiser*, Ben Storey, Veronica Quinn, Belinda Rahman, Lesley Andrews

*Corresponding author for this work

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)218-227
Number of pages10
JournalJournal of Genetic Counseling
Volume25
Issue number2
DOIs
Publication statusPublished - Apr 2016
Externally publishedYes

Keywords

  • next generation sequencing
  • panel testing
  • attitudes
  • hereditary cancer

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