Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing
| Autor: | Kellene M. Bergen, Elissa Morris, Jennifer L. Schneider, Jacob A. Reiss, James V. Davis, Benjamin S. Wilfond, Tia L. Kauffman, Carmit K. McMullen, Katrina A.B. Goddard, Patricia Himes, Carol Young, Michael C. Leo, Marian J. Gilmore |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Genetic counseling media_common.quotation_subject Decision Making Genetic Counseling 030105 genetics & heredity Article law.invention 03 medical and health sciences Randomized controlled trial law Surveys and Questionnaires medicine Humans Genetic Testing Exome Genetics (clinical) Genetic testing media_common medicine.diagnostic_test business.industry Genetic Carrier Screening Human genetics Biotechnology Family Planning Services Family medicine Anxiety Female Preconception Care Worry medicine.symptom business Qualitative research |
| Zdroj: | Journal of Genetic Counseling. 26:971-979 |
| ISSN: | 1573-3599 1059-7700 |
| Popis: | Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so. Two thirds of women declined participation. We identified major themes describing reasons these individuals declined to participate; the most common were time limitation, lack of interest, not wanting to know the information, and potential cause of worry or anxiety. Most women eligible for genomic carrier screening indicated that their reasons for opting out were due to logistical issues rather than opposing the rationale for testing. As expanded carrier screening and genomic sequencing become a more routine part of clinical care, it is anticipated there will be variable uptake from individuals for this testing. Thus, the advancement of clinical carrier screening from single genes, to expanded screening panels, to an exome- or genome-wide platform, will require approaches that respect individual choice to receive genetic testing for reproductive risk assessment. |
| Databáze: | OpenAIRE |
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