Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care

INTRODUCTION

Genetic screening exemplifies the translation of advances in human genomics research into early interventions that promote individual public health benefits. A variety of tools and methods are available to screen adults, fetuses, and newborns — all with a goal of gaining insight into the potential outcome of certain genetic conditions.

Genetic screening can help women make informed decisions about their reproductive health and pregnancy management, and may improve maternal and fetal outcomes by allowing preparation to care for children who may have a genetic disorder. However, there is limited independent and culturally-inclusive research assessing the public health implications of preconception and prenatal screening, resulting in significant challenges to integrating research and development advances into existing health care and regulatory systems, as well as gaps in patient care and inequities between populations.

This roadmap focuses on two types of screens – Expanded Carrier Screening and Noninvasive Prenatal Screening.

Expanded Carrier Screening (ECS)

Carrier screening allows individuals to assess the chance of having a child with certain inherited genetic conditions prior to conception or during pregnancy. It can determine the carrier status of reproductive partners for some recessive and/or X-linked genetic conditions that can be inherited by their children. Carrier screening traditionally has been offered based on a patient’s ethnicity, as some heritable conditions occur more commonly in specific ethnic groups. However, self-reported ethnicity may not accurately reflect a patient’s unique ancestry. As families and societies grow more diverse, ethnicity-based screening has become more challenging, with 20-40% of Americans unable to accurately report their ethnicity. Additionally, research continues to evolve our understanding of genetic etiologies of conditions compared to when practice guidelines were initially developed. Clinical guidelines today include a combination of population and ethnicity-based recommendations and individualized approaches to determine appropriate screening for each patient.

Expanded carrier screening (ECS) tests for a much wider panel of conditions, without regard to ethnicity. While family medical history and ethnicity are often used to guide targeted screening decisions, ECS can be useful for identifying genetic risks if ethnicity is difficult to determine and family history is unknown or insufficient due to the autosomal recessive or X-linked nature of these conditions. However, formal guidelines as to who should be offered carrier screening (all patients or only those of certain ethnicities), the timing of testing (preconception or during the prenatal period), and how to determine which conditions should be included in targeted and expanded screening panels have not yet reached widespread consensus and implementation.

Noninvasive Prenatal Screening (NIPS)

Noninvasive prenatal screening (NIPS) uses a blood sample taken from the mother to examine cell-free DNA (cfDNA) from the placenta that circulates in the mother’s blood to determine if the pregnancy is at risk for a chromosomal aneuploidy. NIPS is also referred to as noninvasive prenatal testing (NIPT) or cfDNA screening. This technology is commonly used to screen for chromosomal conditions such as Down syndrome; however, it is also capable of detecting a number of aneuploid conditions, fetal sex, and some microdeletions and copy number variants. NIPS panels that include single gene disorders are also becoming more readily available. NIPS provides a screening alternative to traditional maternal serum screens to assess the chance for fetal chromosomal conditions during pregnancy. Although NIPS can tell parents whether the fetus is at an increased risk for certain chromosomal conditions, positive results require amniocentesis or chorionic villus sampling to provide a definitive diagnosis.

The SWHR Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care was developed to raise awareness, expand education, and improve implementation of genetic screening among women and their families, health care providers, and policy stakeholders.

 

SWHR Genetic Screening Roadmap: Genetic Screening & Women’s Health

INTRODUCTION

Genetic screening exemplifies the translation of advances in human genomics research into early interventions that promote individual public health benefits. A variety of tools and methods are available to screen adults, fetuses, and newborns — all with a goal of gaining insight into the potential outcome of certain genetic conditions.

Genetic screening can help women make informed decisions about their reproductive health and pregnancy management, and may improve maternal and fetal outcomes by allowing preparation to care for children who may have a genetic disorder. However, there is limited independent and culturally-inclusive research assessing the public health implications of preconception and prenatal screening, resulting in significant challenges to integrating research and development advances into existing health care and regulatory systems, as well as gaps in patient care and inequities between populations.

This roadmap focuses on two types of screens – Expanded Carrier Screening and Noninvasive Prenatal Screening.

Expanded Carrier Screening (ECS)

Carrier screening allows individuals to assess the chance of having a child with certain inherited genetic conditions prior to conception or during pregnancy. It can determine the carrier status of reproductive partners for some recessive and/or X-linked genetic conditions that can be inherited by their children. Carrier screening traditionally has been offered based on a patient’s ethnicity, as some heritable conditions occur more commonly in specific ethnic groups. However, self-reported ethnicity may not accurately reflect a patient’s unique ancestry. As families and societies grow more diverse, ethnicity-based screening has become more challenging, with 20-40% of Americans unable to accurately report their ethnicity. Additionally, research continues to evolve our understanding of genetic etiologies of conditions compared to when practice guidelines were initially developed. Clinical guidelines today include a combination of population and ethnicity-based recommendations and individualized approaches to determine appropriate screening for each patient.

Expanded carrier screening (ECS) tests for a much wider panel of conditions, without regard to ethnicity. While family medical history and ethnicity are often used to guide targeted screening decisions, ECS can be useful for identifying genetic risks if ethnicity is difficult to determine and family history is unknown or insufficient due to the autosomal recessive or X-linked nature of these conditions. However, formal guidelines as to who should be offered carrier screening (all patients or only those of certain ethnicities), the timing of testing (preconception or during the prenatal period), and how to determine which conditions should be included in targeted and expanded screening panels have not yet reached widespread consensus and implementation.

Noninvasive Prenatal Screening (NIPS)

Noninvasive prenatal screening (NIPS) uses a blood sample taken from the mother to examine cell-free DNA (cfDNA) from the placenta that circulates in the mother’s blood to determine if the pregnancy is at risk for a chromosomal aneuploidy. NIPS is also referred to as noninvasive prenatal testing (NIPT) or cfDNA screening. This technology is commonly used to screen for chromosomal conditions such as Down syndrome; however, it is also capable of detecting a number of aneuploid conditions, fetal sex, and some microdeletions and copy number variants. NIPS panels that include single gene disorders are also becoming more readily available. NIPS provides a screening alternative to traditional maternal serum screens to assess the chance for fetal chromosomal conditions during pregnancy. Although NIPS can tell parents whether the fetus is at an increased risk for certain chromosomal conditions, positive results require amniocentesis or chorionic villus sampling to provide a definitive diagnosis.

The SWHR Genetic Screening Roadmap: A Clinician’s Guide to Providing Quality Maternal Health Care was developed to raise awareness, expand education, and improve implementation of genetic screening among women and their families, health care providers, and policy stakeholders.

 

SWHR Genetic Screening Roadmap: Genetic Screening & Women’s Health

This document is intended to serve as an educational and informative resource and is not intended or implied to serve as a substitute for medical or professional advice. The Society for Women’s Health Research does not make medical, diagnosis, or treatment recommendations, nor does it endorse or promote specific screening or diagnostic tests. Patients and consumers should confirm information and consult a professional health care provider to determine individual needs. The Society will not be liable for any direct, indirect, or other damages arising therefrom.  

More from SWHR about Genetic Screening

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NIPS Explained: A Fireside Chat About Prenatal Genetic Screening
Noninvasive prenatal screening (NIPS) is a type of genetic screening that assesses if a pregnancy is at increased risk for certain chromosomal abnormalities, such as Down syndrome or Edwards syndrome. Prenatal genetic screening is an innovative tool that can help women make informed decisions about their reproductive health and pregnancy management, and may improve maternal... Read more »
October 6 @ 3:00 pm - 3:45 pm EDT
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Considering the Patient Experience in Noninvasive Prenatal Screening
SWHR spoke with Patrick Wilson, MMSc, MS, CGC, Clinical Assistant Professor at the University of Oklahoma College of Medicine and Director-at-Large for the National Society of Genetic Counselors (NSGC), and Altovise Ewing, PhD, LCGC, a global health equity scientist, genetic counselor, and Director-at-Large for the NSGC about genetic screening. The following blog post captures takeaways... Read more »
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NIPS Resource Guide Helps Prepare Mothers Throughout Their Pregnancy Journeys  
By Monica Lefton, SWHR Communications Manager.   Each cell in the human body contains chromosomes of genetic material coded in DNA (deoxyribonucleic acid). Genetic screening is a tool used to look for specific sections of a person’s DNA sequence to identify clinically significant variations that are associated with certain genetic conditions. Noninvasive prenatal screening (NIPS) is... Read more »

ACKNOWLEDGEMENTS 

Genetic Screening Working Group Contributors

  • Kara Ayers, PhD, Associate Director, University of Cincinnati Center for Excellence in Developmental Disabilities
  • Joseph Biggio, Jr., MD, MS, System Chair for Women’s Services and Maternal-Fetal Medicine, Ochsner Health
  • Natasha Bonhomme, Founder, Expecting Health
  • Altovise T. Ewing, PhD, LCGC, Senior Science Leader for Global Health Equity Strategy, Genentech
  • Stephanie Gandomi, MBA, MS, CGC, Health Plans Director-Police Specialist, Ambry Genetics
  • James Goldberg, MD, Consultant, Women’s Health Medical Affairs
  • Joan Kegerize, JD, Vice President of Reimbursement and Scientific Affairs, American Clinical Laboratory Association
  • Summer Pierson, MS, LCGC, Senior Manager, Provider and Engagement Relationships, Myriad Genetics
  • Marianna Raia, MS, CGC, Associate Director of Programs, Expecting Health
  • Robert Nathan Slotnick, MD, Medical Director for Reproductive Health, Invitae Corporation
  • Leah Smith, Project Coordinator, Center for Dignity in Healthcare for People with Disabilities
  • Katie Stoll, MS, LGC, Genetic Counselor and Executive Director, Genetic Support Foundation
  • Anna Torrey, Carrier Advisory Committee member, Remember the Girls
  • Patricia D. Winters, CGC, Senior Manager of Medical Affairs, Illumina

SWHR Staff Contributors

  • Irene O. Aninye, PhD, Director of Science Programs
  • Carolyn McPhee, MPH, Science Programs Manager
  • Gabriella Watson, MS, Science Programs Coordinator

Support for this educational program has been provided by Illumina Inc., Invitae, and Myriad Women’s Health.       

         

This material was created by the Society for Women’s Health Research (SWHR) and is intended to serve as a public educational and informative resource. This material may be cited or shared on external channels, websites, and blogs, with attribution given to SWHR, or printed and displayed in its original formatted version. SWHR encourages the sharing and reposting of its content in order to spread awareness around women’s health issues. For specific questions about sharing SWHR content, please reach out to communications@swhr.org