Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
| Autor: | David C. Kochan, Joel E. Pacyna, Janet E. Olson, Noralane M. Lindor, Robert R. Freimuth, Iftikhar J. Kullo, Gabriel Q. Shaibi, Carmen Radecki Breitkopf, Richard R. Sharp, Erin M. Winkler, Pedro J. Caraballo |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Genetic testing lcsh:QH426-470 MEDLINE lcsh:Medicine 030105 genetics & heredity Article 03 medical and health sciences Genetics research Genetics Medicine Genomic medicine Molecular Biology Genetics (clinical) medicine.diagnostic_test business.industry Genomic sequencing lcsh:R Mean age lcsh:Genetics 030104 developmental biology Family medicine Informatics Cohort Return of results business |
| Zdroj: | npj Genomic Medicine, Vol 5, Iss 1, Pp 1-7 (2020) NPJ Genomic Medicine |
| ISSN: | 2056-7944 |
| DOI: | 10.1038/s41525-020-0127-2 |
| Popis: | To inform the process of returning results in genome sequencing studies, we conducted a quantitative and qualitative assessment of challenges encountered during the Return of Actionable Variants Empiric (RAVE) study conducted at Mayo Clinic. Participants (n = 2535, mean age 63 ± 7, 57% female) were sequenced for 68 clinically actionable genes and 14 single nucleotide variants. Of 122 actionable results detected, 118 were returnable; results were returned by a genetic counselor—86 in-person and 12 by phone. Challenges in returning actionable results were encountered in a significant proportion (38%) of the cohort and were related to sequencing and participant contact. Sequencing related challenges (n = 14), affecting 13 participants, included reports revised based on clinical presentation (n = 3); reports requiring corrections (n = 2); mosaicism requiring alternative DNA samples for confirmation (n = 3); and variant re-interpretation due to updated informatics pipelines (n = 6). Participant contact related challenges (n = 44), affecting 38 participants, included nonresponders (n = 20), decedents (n = 1), and previously known results (n = 23). These results should be helpful to investigators preparing for return of results in large-scale genomic sequencing projects. |
| Databáze: | OpenAIRE |
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