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.
Highlights
Whole genome or exome sequencing (WGS/WES) will be increasingly applied in everyday clinical practice for at least three reasons: 1) it is necessary for precise diagnostics, prognostics and personalised medicine (e.g.pharmacogenomics), 2) it is becoming as cheap and fast as targeted genetic analysis, and 3) there is significant utility in storing and potentially reusing the genetic sequence
We have studied the relative importance of different aspects of genetic findings influencing preferences for information about incidental findings in the Danish population, and on this basis we suggest a new policy for reporting based on a combination of medically and patient actionable genes (MAGs and PAGs)
The highest educational attainment was School or High School 244 (30.6%), Further education 252 (31.6%), and University 252 (31.6%). 35 (4.4%) respondents stated that their knowledge about genetics was ‘high’, 235 (29.5%) that they knew ‘some’, 370 (46.4%) that they knew ‘little’, 139 (17.4%) that they knew ‘nothing’, and 19 (2.4%) answered ‘don’t know’. 301 (37.8%) stated that they had a hereditary condition in the family and 265 (33.2%) that they had a chronic disease in the family
Summary
Whole genome or exome sequencing (WGS/WES) will be increasingly applied in everyday clinical practice for at least three reasons: 1) it is necessary for precise diagnostics, prognostics and personalised medicine (e.g.pharmacogenomics), 2) it is becoming as cheap and fast as targeted genetic analysis, and 3) there is significant utility in storing and potentially reusing the genetic sequence. The increased use of genome sequencing is generating large amounts of incidental findings of pathogenic variants. As has been widely recognised there is need for a policy that adequately deals with the reporting of these findings to patients. In 2013 the American College of Medical Genetics and Genomics (ACMG) suggested a policy for the reporting of incidental findings consisting of a minimum list of findings to be actively sought and reported to an individual. The criteria for entering the list included ‘in most cases’ 1) that the variant was a recognised or expected cause of disorder, and 2) that.
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