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H H S Department of Health and Human Services
Health Resources and Services Administration
Maternal and Child Health

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Genetic Services

The Genetic Services Programs in MCHB have a long history assisting States and communities to translate medical genetics and scientific knowledge and technology into services at the community level. The programs facilitate health promotion through early identification of heritable conditions; the development of comprehensive, culturally competent and family-centered genetic services; and an understanding of how genetics affects people’s health. Genetic services include a broad range of clinical and public health activities, such as individual and community assessments for genetic risk factors; genetic screening and counseling for inherited conditions. Genetic services measure risk, susceptibility and prevalence of gene-related conditions that result from specific environmental exposures and helping people with rare genetic disorders manage their health. Currently, these services are provided in a variety of community-based health care settings such as community and academic health centers, public health departments, and public and private laboratories. Programs in MCHB develop and strengthen health care and public health by promoting a close partnership among consumers of genetic services and public health programs, non-governmental organizations, health care professionals, the scientific genetics community and the general public. Special emphasis is placed on improving State maternal and child health programs through the integration of genetic services into a comprehensive family-centered, culturally-competent, community-based system of care for individuals with special health care needs and their families. Particular attention is given to underserved, racial and ethnic minority populations

Activities

These genetic service programs encourage the integration of various types of Federal, State, and community-funded newborn screening and genetics services into systems of care that are responsive to the individual needs of the people being served. HRSA/MCHB genetic service projects are implemented in the following program areas:

  • Community genetics services, for the delivery of genetic services within the National Hemophilia Program, Thalassemia, and Sickle Cell Disease programs

  • Genetic Education and training for health professionals, such as the Genetics in Primary care Training Institute

  • Public health and service infrastructure for genetic and newborn screening service programs, such as the Regional Genetic and Newborn Screening Service Collaboratives

  • Consumer initiatives in genetic education, such as the Clearinghouse for Newborn Screening Information

Highlights

Until 2005, there was little uniformity between states in the panels of conditions for which infants were screened. Now, newborn screening across the States is largely uniform and is coordinated within the Regional Collaboratives and input from a federal Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. HRSA/MCHB has helped community-based service infrastructure for the delivery of genetic services for over 30 years. For instance, the National hemophilia Program has helped families and individuals with hemophilia and other bleeding disorders with the creation of a system for the comprehensive care and treatment of individuals with these conditions. The hemoglobinopathy programs integrate genetic services into community systems of care. The Sickle Cell Disease Programs and Thalassemia Program are designed to enhance services of screening, diagnosis, counseling, specialized medical management, education, prevention and treatment; training health professionals/providers in the care of individuals with blood disorders; and entering into partnerships with family community based organizations, adult & pediatric hematologists, State and county health offices, and other regional experts in blood disorder. The programs provide quality care, education and transition services to individuals across the life span identified with blood disorders and their families.

Resources

  • National Newborn Screening and Genetics Resource Center (NNSGRC) provides State newborn screening programs with expert consultation and technical assistance; resource development; education and training; and collaboration with stakeholders. http://genes-r-us.uthscsa.edu/ exit icon

  • Regional Genetic and Newborn Screening Service Collaboratives National Coordinating Center (RC’s NCC) serves as the bridge between the regional collaboratives and MCHB; consumer and professional organizations; researchers; public health organizations; and policy makers. http://www.nccrcg.org exit icon

  • The Newborn Screening Clearinghouse is a central repository of current educational and family support and services information, materials, resources, research, and data on newborn screening. http://www.nbsclearinghouse.org/ exit icon

  • National Consumer Center for Genetics Resources and Services (NCCGRS) provides relevant information to help individuals understand the contribution of genetics on their health, connects individuals and families to appropriate services, improves the accessibility of existing tools, and increases the dissemination of resources to the public. http://geneticalliance.org/ exit icon

  • Sickle Cell Disease Newborn Screening Program National Coordinating and Evaluation Center (NCEC) supports grantees in their activities and efforts related to outreach, education and genetic counseling for health care providers, affected individuals across the life span, their families, and the general population. www.sicklecelldisease.net exit icon

  • National Coordinating Center (NCC) for Sickle Cell Disease Treatment Demonstration Program (SCDTDP) provides technical assistance; collects and analyzes data; and implements activities required by the program’s authorizing legislation to grantee networks. http://www.nichq.org/scdtdp/home.php exit icon

A clinician with a mother and infant patient

Newborn Screening Key Resources

Newborn Screening: Toward a Uniform Screening Panel and System is a report from HRSA and the American College of Medical Genetics (ACMG) that outlines the standardization of outcomes and guidelines for state newborn screening programs and defines responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. More >

Baby's First Test Exit Disclaimer. helps expecting and new parents  learn about newborn screening and lets families and health professionals share questions and experiences. See the video vignette Exit Disclaimer. depicting a discussion of newborn screening in a prenatal office visit setting. Funded by a HRSA Cooperative Agreement.

The Secretary's Advisory Committee on Heritable Disorders works to reduce morbidity and mortality in newborns and children who have or are at risk for heritable disorders, such as sickle cell anemia, cystic fibrosis and hearing impairment.