How early genetic testing empowers parents and improves outcomes

In a recent interview with Contemporary OB/GYN, Dallas Reed, MD, an OB-GYN and medical geneticist, discussed prenatal genetic screening and its impact on patient care.

Reed, also the principal medical advisor for Women's Health at Myriad Genetics, discussed the importance of carrier screening and noninvasive prenatal testing (NIPT) in improving outcomes for pregnant individuals. Carrier screening helps identify recessive or X-linked genetic conditions where parents may carry a genetic mutation without showing symptoms.

If both parents are carriers of a recessive condition, there is a 25% chance of passing it to their child. Since most people do not have a known family history of these conditions, screening is essential, ideally before pregnancy. Early knowledge allows couples to explore reproductive options, including in vitro fertilization, donor gametes, adoption, or additional medical preparations. However, since many pregnancies are unplanned, screening often occurs early in pregnancy when some options are still available but time-sensitive. Reed emphasized the importance of educating patients about screening during routine gynecological visits to maximize their choices.

NIPT, such as Myriad’s Prequel Prenatal Screen, is a noninvasive test that detects chromosomal abnormalities such as aneuploidies, microdeletions, and sex chromosome differences as early as 8 weeks of pregnancy. While it is a screening tool rather than a diagnostic test, it helps identify potential conditions in the fetus, allowing patients to pursue confirmatory testing through procedures such aschorionic villus sampling or amniocentesis. This knowledge helps families prepare for necessary medical care, specialist involvement, and delivery planning. Reed highlighted that genetic screening empowers patients by giving them control over their pregnancy journey, rather than inducing fear.

To increase prenatal genetic screening adoption, Reed advised clinicians to direct patients to educational resources such as the Know More Sooner website and encourage family discussions about genetic conditions. She also recommended OB-GYNs collaborate with maternal-fetal medicine specialists, genetic counselors, and geneticists to integrate screening into patient care effectively. Genetic testing companies, including Myriad, offer support through cost transparency, detailed reports, and access to prenatal genetic counseling, making the process more accessible for both providers and patients.

Reed encouraged providers to stay informed, seek guidance from genetics professionals, and engage in continuous learning to better serve their patients in navigating genetic screening and reproductive decision-making.

This video is part 2 of a 2-part series. Click here for part 1.