Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study

Area of Science:

• Genetics
• Reproductive Health
• Public Health

Background:

• Carrier screening identifies risks for genetic conditions, aiding reproductive choices.
• Universal screening is recommended but not widely integrated into public healthcare.
• This study assesses carrier screening feasibility within Spain's public health system.

Purpose of the Study:

• To evaluate the feasibility of a carrier screening program in Spain's public healthcare system.
• To assess participation rates and identify at-risk couples for genetic conditions.
• To understand participant motivation for carrier screening.

Main Methods:

• Recruited non-pregnant women (18-38) and partners with reproductive intent.
• Utilized a 351-gene massively parallel sequencing panel for women.
• Employed sequential screening for male partners and genetic counseling, with emotional response assessment.

Main Results:

• High participation (77% response, 50.8% enrollment).
• 62% carried at least one pathogenic variant; 4% identified as at-risk carrier couples.
• Identified risks for hearing loss, cystic fibrosis, Stargardt disease, and others.

Conclusions:

• Carrier screening is feasible and clinically useful within a public healthcare system.
• Demonstrated high participation and identified significant numbers of at-risk couples.
• Participant motivation centered on preventing severe genetic condition transmission.