期刊
JOURNAL OF GENETIC COUNSELING
卷 28, 期 5, 页码 982-992出版社
WILEY
DOI: 10.1002/jgc4.1150
关键词
carrier testing; consanguinity; cultural competence; expanded carrier screening; genetic counseling; genetics services; preconception; prenatal; recurrence risk; risk perception
资金
- University of Toronto
Consanguinity, the union between two individuals who are related as second cousins or closer, is a long-standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic counseling session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity-related risks and genetic services. Our findings support the personal utility of genetic counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, counseling, and testing relevant to this patient population.
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