Dallas Reed, MD, highlights trends and barriers in prenatal genetic testing

In a recent interview with Contemporary OB/GYN, Dallas Reed, MD, an OB-GYN and medical geneticist, explained how prenatal genetic screening involves tests during pregnancy to identify chromosomal conditions such as Down syndrome, Trisomy 13, and Trisomy 18.

There are two types of genetic screening: noninvasive prenatal testing (NIPT), such as Myriad Genetics' Prequel test, and carrier screening, such as Myriad’s Foresight test, which should be done before pregnancy. These screenings help parents understand their child's potential genetic risks.

Reed highlighted that while most expectant parents express interest in genetic screening when informed about it, approximately 40% report not being offered such tests. To address this, Myriad Genetics launched an educational website, knowmoresooner.com, aimed at informing prospective parents so they can proactively discuss screening options with their health care providers.

Discussing barriers to genetic screening, Reed identified several key issues. One significant challenge is health care providers' awareness and familiarity with evolving genetic screening options. As genetic testing has become more advanced and affordable, the number of available tests may be overwhelming for OB-GYNs, midwives, and nurse practitioners. Patients also face challenges in navigating the vast amount of prenatal information, which can make genetic screening seem daunting.

Additionally, disparities in access to genetic screening exist among different populations. Historically, genetic screenings have been tailored primarily to individuals of Caucasian descent, limiting their effectiveness across diverse ethnic backgrounds. Myriad Genetics has worked to address this by designing its carrier screening to be more inclusive. Another challenge is that individuals with higher body mass index sometimes receive inconclusive results from NIPT because of technical limitations. To mitigate this, Myriad has developed "AMPLIFY" technology, which enhances test accuracy and reduces the likelihood of inconclusive results, preventing delays in obtaining critical information.

Another barrier is the limited availability of genetic counseling services. Many areas have few, if any, genetic counselors or geneticists, making it difficult for patients to receive expert guidance when dealing with complex genetic findings. To bridge this gap, Myriad provides access to genetic counselors to assist clinicians and patients in understanding and interpreting test results.

Reed emphasized the need for both health care providers and patients to be proactive about prenatal genetic screening. Increasing awareness and education can help more families make informed decisions about their pregnancies and potential genetic risks.

This video is part 1 of a 2-part series. Check back tomorrow for part 2.