Comprehension and personal value of negative non-diagnostic genetic panel testing.
genetic testing
health behavior
negative results
perceived utility
population screening
understanding
Journal
Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
10
08
2020
received:
18
05
2020
accepted:
11
08
2020
pubmed:
19
9
2020
medline:
16
10
2021
entrez:
18
9
2020
Statut:
ppublish
Résumé
Increasing interest and pursuit of genetic testing by the general public have raised concerns about their understanding and use of their results. While most research has focused on individuals receiving positive genetic test results, there have been limited investigations assessing the understanding and utility of receiving negative genetic test results. Individuals who receive a negative (or uninformative) genetic test result may not appreciate the limitations of genetic testing and their residual disease risk. The goals of this study were to explore participant understanding and perceived utility of negative non-diagnostic genetic test results. We conducted semi-structured interviews with participants who received negative non-diagnostic genetic test results from the electronic Medical Records and Genomics Network (eMERGE) testing panel at Northwestern University. A total of 17 participants were interviewed. While many expressed a lack of understanding of genetics and the relationship between genes, disease, and environment, most acknowledged that they had residual risk to develop a health problem and should continue with their routine health management. Additionally, participants expressed that their negative results had personal value, by providing them peace of mind and learning additional knowledge about themselves and their health. Participants did not anticipate that results would have an impact on their lifestyle, but felt the results were useful for sharing with their physician and could inform future genetic testing decisions. While mostly positive, some participants were disappointed not to learn more individualized results. While a more thorough exploration is necessary, findings in this study can aid efforts to improve or innovate informed consent for genomic testing, as well as scalable modes of result return that foster comprehension following negative genetic testing.
Identifiants
pubmed: 32945059
doi: 10.1002/jgc4.1327
pmc: PMC8477451
mid: NIHMS1740362
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
418-427Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG006388
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG008673
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011169
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01HG008673
Pays : United States
Informations de copyright
© 2020 National Society of Genetic Counselors.
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