AbstractsMedical & Health Science

Prenatal genetic testing and screening for consanguineous couples in clinical practice: is clinical practice consistent with practice guidelines?

by Neeraja Reddy

Institution: Brandeis University
Year: 2015
Keywords: consanguinity; NSGC guidelines; genetic counseling; prenatal testing; stigma
Record ID: 2058158
Full text PDF: http://hdl.handle.net/10192/30598


Our study assessed the preconception and prenatal genetic counseling services offered to consanguineous couples in North America. We surveyed genetic counselors who have worked in a prenatal setting at any point between the years 2010 and 2015. We received 132 completed surveys and respondents had an average of 7.5 years of experience in a prenatal setting. Respondents in our study had counseled an average of 19 consanguineous couples since the start of their career. The mean baseline risk respondents quoted for consanguineous couples to have a child with a genetic disorder or congenital anomaly varied from 5.02% to 10.55% depending on the degree of relatedness while counselors cited a 3.57% mean baseline risk for unrelated couples. The common psychosocial concerns perceived by respondents when counseling consanguineous couples were stigma, discrimination, fear, blame and influences of cultural and religious beliefs. Fifty-four percent (N=132) of counselors reported that they refer to some guideline with the majority referring to the National Society of Genetic Counselors (NSGC) guideline for genetic counseling and screening of consanguineous couples and their offspring, published in 2002. When asked if they have recommendations for revising the NSGC guidelines, a number of respondents suggested they be revised to include information on offering new technologies such as expanded carrier screening, non-invasive prenatal testing (NIPT), chromosomal microarray and exome sequencing to consanguineous couples as well as strategies to discussing incidental/secondary findings with consanguineous couples. This study, although limited in size, shows that the genetic counseling practices for consanguineous couples is more consistent than observed in the previous study by Bennett et al. (1999).