Author ORCID Identifier

0000-0003-0894-8245

Date of Graduation

5-2020

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Meagan Choates, MS, CGC

Committee Member

Lauren Murphy, MS, CGC

Committee Member

Malorie A. Jones, MS, CGC

Committee Member

Jessica Corredor, MS, CGC

Committee Member

Jacqueline Parchem, MD

Abstract

Carrier screening is a genomic technology that is used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous studieshave examined reasons why women elect or decline carrier screening, but there have been few published studies that examine factors that influence a male partner’s decision to elect or decline carrier screening, particularly when the female has been identified as a carrier. The aim of the study was to determine the factors that influence the uptake of carrier screening in male partners at several clinics within an academic medical center. Data was ascertained via a novel survey. Of the 98 patients included in the analysis, more than half of the male partners did not attend the initial counseling session (57/98, 58%), but the partner being present at the initial genetic counseling session was significantly associated with his uptake of carrier screening (p=0.001). The only other significant factor included the male partner placing increased importance on wanting to be able to plan for the future (p= 0.006). Of the couples where the female was identified to be a carrier (n=21), 18 (86%) of them indicated that the male partner would pursue screening if the female screened positive. However, only 5 males ultimately completed carrier screening (28%). The study confirms that despite published recommendations and original intentions of the patient and/or her partner to follow such recommendations, the majority of male partners are not completing carrier screening after their female partner screens positive for an autosomal recessive condition. Future studies should examine barriers to partner screening and investigate methods to increase the utility of prenatal carrier screening.

Keywords

carrier screening, prenatal, male carrier screening, genetic, autosomal recessive

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