Clinical genome sequencing and population preferences for information about ‘incidental’ findings: From medically actionable genes (MAGs) to patient actionable genes (PAGs)

Thomas Ploug*, Søren Holm

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

23 Citations (Scopus)

Abstract

Whole genome or exome sequencing is increasingly used in the clinical contexts, and ‘incidental’ findings are generated. There is need for an adequate policy for the reporting of these findings to individuals. Such a policy has been suggested by the American College of Medical Genetics and Genomics (ACMG). We argue that ACMG’s policy is overly paternalistic, and that an adequate policy must take into account population preferences. We conducted a choice based conjoint survey of population preferences for reporting in a representative sample of the Danish population. In a 12 task survey respondents were asked about their preference for reporting in relation to three scenarios with seven different attributes. Of 1200 respondents 66.4% participated. We show that population preferences for reporting differs from ACMG’s recommendations, and suggest a new policy based on both medically and patient actionable genes.

Original languageEnglish
Article numbere0179935
JournalPLOS ONE
Volume12
Issue number7
Number of pages13
ISSN1932-6203
DOIs
Publication statusPublished - 3 Jul 2017

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