Public health genetic screening involves programs aimed at detecting genetic conditions in 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), 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.
New 2021 Resource
Public Health Genetics Week is excited to announce that one of our partners, the NSGC Public Health SIG, is hosting a webinar series that highlights different areas of public health genomics. The first webinar in the Public Health Genomics: Applications in Genetic Counseling Practice 2021 series brings together speakers from different areas of public health genomics to discuss the successes and challenges of implementing population screening programs from the perspective of different stakeholders in the healthcare system.
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 [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.”
The Centers for the Disease Control and Prevention (CDC) Office of Public Health Genomics and Precision Health provides a toolkit about the Tier 1 Genomics Applications and their Importance to Public Health. The toolkit includes information for state public health departments, information about genetic conditions, and more. Listed below are links to the condition-specific resources:
The National Coordinating Center for the Regional Genetics Networks (NCC), in partnership with the American College of Medical Genetics and Genomics, launched the secondary findings ACT Sheets. The ACT Sheets are a clinical decision support tool for non-genetic providers to inform them about genetic conditions found in genetic testing and the next steps a provider should take once a positive test result is returned. The Secondary Findings ACT Sheets are:
“The FH Foundation is a patient-centered nonprofit organization dedicated to research, advocacy, and education of familial hypercholesterolemia (FH). Our mission is to raise awareness of FH in order to increase the rate of early diagnosis and encouraging proactive treatment. If left untreated, FH leads to aggressive and premature heart disease in women, men and children of all racial and ethnic backgrounds.” Patient resources include:
“FORCE improves the lives of the millions of individuals and families facing hereditary breast, ovarian, pancreatic, prostate, colorectal and endometrial cancers.” The organization offers educational materials, policy support, and family support to patients. Resources include:
The Lynch Syndrome International mission “is to serve our global communities by focusing on providing support for individuals afflicted with Lynch syndrome, creating public awareness of the syndrome, educating members of the general public and health care professionals and providing support for Lynch syndrome research endeavors.” The foundation provides support to individuals with Lynch Syndrome, as well as their families. Resources include:
Expanded Carrier Screening
Carrier screening is defined by the American College of Obstetricians and Gynecologists (ACOG) as “a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out your chances of having a child with a genetic disorder.” Carrier screening offered during pregnancy can be offered as a targeted screening or expanded screening.
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 Ehler-Danlos syndrome.
The American College of Obstetricians and Gynecologists (ACOG) is a membership organization for obstetricians and gynecologists and offers provider and patient resources related to genetics and pregnancy. ACOG resources include:
“To improve the quality of healthcare by providing up-to-date, objective genetic information to patients, providers, and healthcare organizations, supporting those in need of genetic services, and facilitating the adoption of best genetic practices.” The Genetic Support Foundation offers a number of resources for patients to learn more about genetic conditions including patient videos about prenatal genetic testing. Access them here.
Non-Invasive Prenatal Screening
Non-invasive prenatal screening (NIPS), also known as 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, NIPS 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 NIPS, depending on the type of screening done, can include Triploidy and 45,X.
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 NIPS 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, recently launched the NIPS ACT Sheets. The ACT Sheets are a clinical decision support tool for non-genetic providers to inform them about genetic conditions screened for with NIPS and what the next steps a provider should take once a positive screen result is returned. The NIPS ACT Sheets are: