Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants
| Autor: | Cristen J. Willer, Brooke N. Wolford, Jennifer McNamara, J. Scott Roberts, Whitney E. Hornsby, Rajani Aatre, Adelyn Beil, Kim A. Eagle, Wendy R. Uhlmann, Bo Yang, Patricia Arscott |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine lcsh:Internal medicine medicine.medical_specialty lcsh:QH426-470 Genetic counseling Disclosure Disease Return of results 030105 genetics & heredity 03 medical and health sciences Internal medicine Genetics medicine Humans Genetic Testing lcsh:RC31-1245 Genetics (clinical) Biological Specimen Banks Biobank Genetic testing medicine.diagnostic_test business.industry Communication Pathogenic variants Middle Aged lcsh:Genetics Aortic Dissection Distress 030104 developmental biology Cohort business Psychosocial Research Article |
| Zdroj: | BMC Medical Genomics BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021) |
| ISSN: | 1755-8794 |
| DOI: | 10.1186/s12920-021-00902-5 |
| Popis: | Background Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory, were evaluated. Methods We exome sequenced 240 cases with thoracic aortic dissection and 258 controls, then examined 11 aortopathy genes. Pathogenic variants in 6 aortopathy genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 participants, representing 10.8% of the cohort (26/240). A second research sample was used to validate the initial findings. Mailed letters to participants disclosed that a potentially disease causing DNA alteration had been identified (neither the gene nor variant was disclosed). Participants were offered clinical genetic counseling and confirmatory genetic testing in a CLIA laboratory. Results Excluding 6 participants who were deceased or lost to follow-up, 20 participants received the disclosure letter, 10 of whom proceeded with genetic counseling, confirmatory genetic testing, and enrolled in a survey study. Participants reported satisfaction with the letter (4.2 ± 0.7) and genetic counseling (4.4 ± 0.4; [out of 5, respectively]). The psychosocial impact was characterized by low decisional regret (11.5 ± 11.6) and distress (16.0 ± 4.2, [out of 100, respectively]). The average cost for 26 participants was $400, including validation and sending letters. The average cost for those who received genetic counseling and CLIA laboratory confirmation was $605. Conclusions Participants were satisfied with the return of clinically significant biobank genetic results and CLIA laboratory testing; however, the process required significant time and resources. These findings illustrate the trade-offs involved for researchers considering returning research genetic results. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink