January 14, 2022

Genetic Screening Roadmap Aims to Assist Clinicians in Education, Conversation

By Monica Lefton, SWHR Communications Manager.  

Genetic screening can help women better navigate decisions about their reproductive health and pregnancy management. Screening before and during pregnancy, while not diagnostic, can provide valuable information to help parents, physicians, and caregivers understand the potential of genetic conditions, disorders, and other maternal and fetal outcomes.  

Despite these potential benefits, there is limited independent and culturally-inclusive research assessing the public health implications of preconception and prenatal screening, resulting in gaps in provider education, patient care, and health care regulation. For example, while primary care physicians or obstetrician/gynecologists will often first engage women in their preconception or initial pregnancy care, other professionals (e.g., nurses, phlebotomists, midwives, medical assistants) will also interact with expectant mothers and could benefit from genetic screening education. Providers across the maternal health ecosystem should be equipped to meet the needs of women and families planning to become pregnant. 

The Society for Women’s Health Research (SWHR) developed the Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care to assist maternal health clinicians in framing and providing genetic screening for women. This resource is intended, not only to raise awareness and expand education of genetic screening among health care providers, women and their families, and policy stakeholders, but also to improve its implementation.  

The roadmap focuses on two types of screening, expanded carrier screening (ECS) and noninvasive prenatal screening (NIPS). ECS allows individuals to assess the chance of having a child with certain inherited genetic conditions prior to conception or during pregnancy. It tests for a wider panel of conditions than standard carrier screening offers, and can be used by providers without regard to ethnicity. NIPS—sometimes referred to as noninvasive prenatal testing (NIPT) or cell-free DNA (cfDNA) screening—uses a blood sample taken from the mother to examine cfDNA from the placenta to determine if the pregnancy is at risk for a chromosomal aneuploidy.  

The genetic screening roadmap covers the following topics and includes several links to external resources: 

This roadmap need not be followed in a straight path. Because each provider and patient has a different level of understanding and experience with genetic screening, SWHR encourages readers to find and utilize the sections of the roadmap that are most helpful to them.  

Download The Genetic Screening Roadmap

The roadmap was developed with guidance from SWHR’s Genetic Screening Working Group, made up of a diverse group of maternal health care providers, scientists, genetic counselors, patients and patient advocates, and policy professionals.  

SWHR held several meetings with the working group that also led to the publication of blog, Moving from Possibilities to Preparedness Using Genetic Screening, and a concise genetic screening poster for patients and doctors’ offices, releasing at the end of January 2022.  

SWHR’s Genetic Screening Program is supported by educational sponsorships from Illumina, Invitae, and Myriad Women’s Health. SWHR maintains editorial control and independence over educational content.