Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clin Genet 2013 Sep;84(3):230-6
Date
11/21/2012Pubmed ID
23163796Pubmed Central ID
PMC3888159DOI
10.1111/cge.12060Scopus ID
2-s2.0-84881610283 (requires institutional sign-in at Scopus site) 66 CitationsAbstract
The introduction of clinical genome-wide sequencing raises complex issues regarding the management of incidental findings. However, there is a lack of empirical studies assessing views of providers involved in potential disclosure of such findings. In an anonymous survey of 279 clinical genetics professionals, we found that the vast majority of participants agreed that they were interested in knowing about clinically actionable incidental findings in themselves (96%) and their child (99%), and they reported that these types of findings should be disclosed in adult (96%) and minor (98%) patients. Approximately three-fourths agreed that they were personally interested in knowing about an adult-onset clinically actionable disease (78%) and a childhood-onset non-clinically actionable disease (75%) in their child. A similar percentage of participants (70%) felt that these two types of findings should be disclosed to patients. Forty-four percent of participants wanted to know about an incidental finding that indicates an adult-onset non-clinically actionable condition in themselves and 31% wanted to know about this type of information in their child. Findings from this study revealed participants' views highly dependent on clinical actionability. Further research is needed with a broader population of geneticists to increase generalizability, and with diverse patients to assess their perspectives about results disclosure from clinical sequencing.
Author List
Lemke AA, Bick D, Dimmock D, Simpson P, Veith RAuthor
Pippa M. Simpson PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Child
Female
Genetics, Medical
Genomics
Health Care Surveys
Health Knowledge, Attitudes, Practice
Health Personnel
High-Throughput Nucleotide Sequencing
Humans
Incidental Findings
Male
Middle Aged
Young Adult
