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), prenatal genetics (including expanded carrier screening and non-invasive prenatal screening), and 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.
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.
- “What is the process of screening?
- What do newborn screening results mean?
- What conditions are screened in newborn screening?
- What should I ask my healthcare provider about newborn screening?
- What are the state and federal laws around screening?”
The purposes of this site are to:
- Define NBS, describe the NBS process, and explain how that process relates to follow up, diagnosis, and treatment.
- Identify the conditions included as part of NBS.
- List the types of NBS results and describe what happens after screening for babies with each type of result.
- Connect parents, parents-to-be, and health care providers with state-specific NBS resources.
- Help readers learn about updates in NBS
Learn more at https://newbornscreening.hrsa.gov/
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.
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 [or population screening] 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.”
Additional Resources to Learn More about Population Screening
After Testing, Now What? Webpage
Screening and Risk Reduction Webpage
What You Should Know About Genes and Cancer Brochure
Targeted carrier screening is a blood test offered by a healthcare provider to parents with particular family health histories or parents that come certain populations. On the other hand, expanded carrier screening is offered before or during pregnancy and screens for a large number of genetic conditions regardless of parents’ ethnic background or family history. Genetic conditions screened for during an expanded carrier screening can include, but are not limited to: Cystic Fibrosis, Spinal Muscular Atrophy, and Hemoglobinopathies.
Additional Resources to Learn More about Expanded Carrier Screening
Prenatal cell-free DNA screening, examines the risk of a fetus having certain genetic conditions by taking a sample of blood from the pregnant individual. A small amount of the fetal DNA circulates in the pregnant individual’s blood and that DNA can be tested for particular chromosomal disorders.
For example, prenatal cell-free DNA screening can detect if the fetus has Trisomy 13, Trisomy 18, or Trisomy 21. This means that the fetus has three copies of that particular numbered chromosome (individuals typically have two copies of each chromosome). Other conditions that can be determined through prenatal cell-free DNA screening, depending on the type of screening done, can include Triploidy and 45,X.
Additional Resources to Learn More about Prenatal Cell-Free DNA Screening
The American College of Obstetricians and Gynecologists (ACOG), the National Society of Genetic Counselors (NSGC), and the Society for Maternal and Fetal Medicine (SMFM) developed two infographics to explain prenatal cell-free DNA screening to patients. Access them here.
The National Coordinating Center for the Regional Genetics Networks (NCC), in partnership with the American College of Medical Genetics and Genomics, develops the prenatal cell-free DNA screening ACT Sheets. The ACT Sheets are a clinical decision support tool for non-genetic providers to inform them about genetic conditions screened for with prenatal cell-free DNA screeningand what the next steps a provider should take once a positive screen result is returned. The prenatal cell-free DNA screening ACT Sheets are: