GC student wins fellowship to study Cystic Fibrosis carrier screening

Erica Wellington (MS ’12), a student in the Genetic Counseling Program, has been awarded a Jane Engelberg Memorial Fellowship Student Research Award by the National Society of Genetic Counselors. The purpose of the JEMF Student Research Award is to foster research and grant writing skills in genetic counseling students, skills which can continue to be used throughout their careers. Erica’s masters research project is entitled Cystic fibrosis carrier screening: Current practices and challenges in genetic counseling.

Cystic fibrosis (CF) is one of the most common recessive genetic conditions in the Caucasian population, making it a frequent counseling topic in the prenatal clinic. However, because CF displays allelic and phenotypic heterogeneity, genetic counseling of carrier couples is often a challenging task. Depending on the mutations found, carrier couples are at risk of having a child anywhere along a phenotypic spectrum that includes classic CF, nonclassic CF, congenital bilateral absence of the vas deferens (CBAVD) and subclinical manifestations. Genotype-phenotype correlations are highly variable, and complex alleles, the effects of which are mediated by chromosomal background, further complicate counseling. Although there is a large body of literature describing the prognostic ambiguities associated with CF, the CF carrier screening and counseling practices of genetic counselors have not yet been described. This study will use an online survey and telephone interviews to evaluate prenatal genetic counselors’ knowledge of CF carrier screening guidelines, describe current practices, and identify the genetic counseling challenges presented by complex screening scenarios. Establishing this baseline description of practices and challenges is one of the first steps toward helping genetic counselors provide accurate, consistent and useful CF counseling as part of quality preconception and prenatal patient care.

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