Author ORCID Identifier

Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Blair K Stevens

Committee Member

Meagan Choates

Committee Member

Syed Hashmi

Committee Member

Brittanie Shelton

Committee Member

Aranza Gonzalez Cendejas

Committee Member

Angela Haynes Burgess


Carrier screening assesses whether an individual may carry variants in select genes associated with autosomal recessive and X-linked inheritance. Recent American College of Medical Geneticists (ACMG) guidelines call for utilization of expanded screening that analyzes carrier status for up to hundreds of conditions. In these guidelines, clinical utility is based on alterations to reproductive decision-making. However, clinical utility study cohorts cited by these guidelines were largely white, highly educated, of high income, and were often receiving preconception counseling. There is a lack of research on the perspectives of patients from diverse backgrounds, whose perceptions may be more reflective of those among the general population. Therefore, this study aimed to assess the perceived utility of carrier screening in an ethnically, economically, and educationally diverse population. Of survey responses gathered from maternal fetal medicine and obstetrics and gynecology clinics, two groups were assessed: 186 total respondents, and a subset of 114 who wished to know their genetic risks and were open to having children in the future. Of the subset group, 70% preferred expanded carrier screening and 30% preferred standard carrier screening. There was no statistical difference in test preference by race and ethnicity, education level, income, or insurance type. A vast majority (91%) of participants found carrier screening to be useful but only 37% stated they would change their reproductive plans if identified to be at risk through carrier screening (n=81). While attitudes toward carrier screening were positive, its perceived usefulness was low according to the ACMG definition of utility. However, participants who were not pregnant, have not had genetic testing in the past, and have higher income were more likely to change their reproductive plans. Therefore, information on reproductive decision-making choices should be provided to patients preconceptionally when they have time to consider all options, and accessibility to reproductive services must be improved for those with lower income. Further insight on the perspectives of diverse patient populations is imperative to define utility most accurately and to provide equitable access to genetic health care services.


carrier screening, expanded carrier screening, utility, reproductive decision-making, equity, preconception

Available for download on Thursday, April 25, 2024