# Elucidating the barriers and facilitators to widespread implementation of preconception genetic carrier screening

> **NIH NIH K08** · MASSACHUSETTS GENERAL HOSPITAL · 2024 · $219,734

## Abstract

Screening of prospective parents to determine if their offspring are at risk for potentially devastating heritable
conditions with genetic carrier screening has resulted in measurable decreases in the number of newborns
affected by severe recessive disorders. Although professional societies such as the American College of
Obstetricians and Gynecologists and the American College of Medical Genetics advocate for genetic carrier
screening to be done prior to pregnancy (preconception), access to preconception genetic carrier screening
remains low and inequitable. This is because implementation of carrier screening in a diverse national
population is complicated and requires 1) understanding the barriers and facilitators of screening at all levels of
healthcare delivery, 2) recognizing patient preferences for test delivery, and 3) clarifying potential personal
health implications of carrier screening. This award will be used to address these three gaps in our
understanding of preconception genetic carrier screening. First, I will interview key informants with experience
at all levels of healthcare delivery about their perceptions of the barriers and facilitators to implementing
preconception carrier screening programs. Second, I will systematically elicit patient preferences about how
genetic carrier screening should be delivered using a discrete choice experiment. The discrete choice
experiment will consist of a web-based survey in which different attributes of how preconception carrier
screening is offered are varied and prospective patients must choose their preferred screening method. This
survey will be administered to two separate cohorts of women of reproductive age to encourage a diversity of
responses. Finally, I will use phenome-wide association study methods to investigate whether carriers of
autosomal recessive disease are at high risk of other adult diseases. I will focus on CFTR, HBB, and GBA,
which are implicated in the autosomal recessive disorders cystic fibrosis, sickle cell anemia, and Gaucher
disease, respectively. This study will generate key pilot data that will be used to design testable implementation
strategies to enable widespread use of preconception carrier screening. These strategies and their impact on
patient care will subsequently be tested in a randomized clinical trial through a future grant application.

## Key facts

- **NIH application ID:** 10766680
- **Project number:** 5K08HG012221-03
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Leland Hull
- **Activity code:** K08 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $219,734
- **Award type:** 5
- **Project period:** 2022-02-01 → 2027-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10766680

## Citation

> US National Institutes of Health, RePORTER application 10766680, Elucidating the barriers and facilitators to widespread implementation of preconception genetic carrier screening (5K08HG012221-03). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10766680. Licensed CC0.

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