Public health genetic screening involves programs aimed at detecting genetic conditions in certain populations where individuals and families are not usually aware that they are at risk, and where early detection and intervention can help improve health outcomes.
Some examples of this include newborn screening programs (which includes testing blood spots of infants for specific genetic conditions, hearing screening, and critical congenital heart disease screening); as well as programs focused on population screening for Hereditary Breast and Ovarian Cancer, Lynch syndrome, and Familial hypercholesterolemia – which 2 million people in the United States are at risk for.
Named one of the “Ten Great Public Health Achievements – United States, 2001-2010 ” by the CDC, newborn screening is a nationwide public health program that screens nearly 4 million babies a year for a variety of conditions, as well as hearing screening and Critical Congenital Heart Disease (CCHD). Each state runs a newborn screening program that utilizes dried blood spots, collected soon after the birth of baby, to screen for genetic conditions. By screening soon after birth, treatment can begin for individuals identified with a newborn screening condition. Learn more about the newborn screening process through Baby’s First Test.
Although each state decides which conditions are screened for, the Secretary of the Department of Health and Human Services makes recommendations of which conditions should be screened through the Recommended Uniform Screening Panel (RUSP). Learn more about the RUSP and learn what conditions each state screens for through NewSTEPs.
Below learn more about the organizations that constitute the newborn screening system and newborn screening resources developed for providers and families.
“The mission of the Advisory Committee on Heritable Disorders in Newborns and Children is to reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders.” Learn more at https://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
“Baby’s First Test is the nation’s newborn screening education resource center. Baby’s First Test provides current educational and family support and services information, materials, and resources about newborn screening at the local, state, and national levels.” Learn more at babysfirstest.org
Navigate Newborn Screening helps families find answers to the following questions: ” 1. What is the process of screening? 2. What do newborn screening results mean? 3. What conditions are screened in newborn screening? 4. What should I ask my healthcare provider about newborn screening? 5. What are the state and federal laws around screening?” Learn more at https://expectinghealth.org/our-programs/navigate-newborn-screening
NBSTRN’s mission is to “to facilitate ground-breaking research in newborn screening designed to discover new tests, conditions and treatments; to foster a collaborative and integrative network of researchers, clinicians, families and public health partners to understand newborn screening outcomes; to support pilots that inform the infrastructure, programming, and policies needed to expand and improve newborn screening.” Learn more at nbstrn.org.
The mission of the National Coordinating Center for the Regional Genetics Networks (NCC), the seven Regional Genetics Networks (RGNs), and the National Genetics Education and Family Support Center (Family Center) is to increase access to genetic services for medically underserved populations. As a part of this effort, the RGNs, NCC, and Family Center have developed tools and resources to support the newborn screening infrastructure. Learn more at nccrcg.org.
“The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) is a national newborn screening resource center designed to provide data, technical assistance, and training to newborn screening programs and assist states with quality improvement initiatives. It functions with the goal of improving outcomes for newborns by facilitating newborn screening initiatives and programmatic outcomes to improve the overall quality of the newborn screening system.” Learn more at newsteps.org.
Newborn screening is conducted by each state. Each newborn screening program consists of healthcare providers, lab professionals, and follow-up staff. To learn more about a specific newborn screening program, visit NewSTEPs state profiles page.
Explore newborn screening resources utilizing the NCC Resource Repository (ReRe). Within ReRe, you can filter by type of resource, who developed the resource, or the intended audience. Additionally, you can search for specific resources utilizing the search functionality.
“Tier 1 genomic applications are defined by CDC’s Office of Public Health Genomics (OPHG) as those having significant potential for positive impact on public health based on available evidence-based guidelines and recommendations.” Currently, CDC recommends three applications:
- “Hereditary Breast and Ovarian Cancer Syndrome (HBOC) – increased risk for breast, ovarian, tubal, peritoneal, and other cancers due to mutations in BRCA1 or BRCA2 genes;
- Lynch syndrome (LS) – increased risk for colorectal, endometrial, ovarian, and other cancers associated with mutations in mismatch-repair genes; or
- Familial hypercholesterolemia (FH) – increased risk for heart disease or stroke due to mutations leading to very high cholesterol levels from an early age.”
- ACMG- ACTion (ACT) Sheets for healthcare providers
- CDC- Tier 1 Genomics Applications and their Importance to Public Health