Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Houdayer F., Putois O., Babonneau M.L, Chaumet H., Joly L., Juif C., Michon C.C, Staraci S., Cretin E., Delanoue S., Charron P., Chassagne A., Edery P., Gautier E., Lapointe A.S, Thauvin-Robinet C., Sanlaville D., Gargiulo M., Faivre L. |
| Journal | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| Volume | 62 |
| Pagination | 103711 |
| Date Published | OCT |
| Type of Article | Article |
| ISSN | 1769-7212 |
| Mots-clés | developmental disorders, ethics, exome sequencing, next generation sequencing, psychology, Secondary findings |
| Résumé | {Access to active search for actionable secondary findings (SF) in diagnostic practice is a major psychological and ethical issue for genomic medicine. In this study, we analyzed the preferences of patients and their families regarding SF and identified the reporting procedures necessary for informed consent. We interviewed parents of patients with undiagnosed rare diseases potentially eligible for exome sequencing and patients affected by the diseases listed in the ACMG recommendations. Four focus groups (FG) were formed: parents of patients with undiagnosed rare diseases (FG1 |
| DOI | 10.1016/j.ejmg.2019.103711 |