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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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MCH Genetic Services

The MCH Genetic Services Programs assist 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 understanding how genetics affect health. These Genetic Services include a broad range of clinical and public health activities, such as individual and community assessments for genetic risk factors; genetic screening, counseling for inherited conditions, and support for state public health infrastructure. Genetic services measure risk, susceptibility and prevalence of gene-related conditions that result from specific environmental exposures and help people with rare genetic disorders manage their health. MCH Genetic programs promote 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-based MCH 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. 

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. MCH Genetic Services 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, Newborn Screening Technical Assistance Center and the Regional Genetic 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 with input from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. These efforts have helped unify 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) obtain comprehensive care and treatment for individuals with these conditions. by assisting with integration of genetic services into community systems of care. The Sickle Cell Disease and the Thalassemia Programs are both designed to enhance screening, diagnosis, counseling, specialized medical management, education, prevention, treatment; and transition services. The Hemoglobinopathy Program also trains health professionals and providers in the care of individuals with blood disorders; and partners with family community based organizations, adult and pediatric hematologists, State and county health offices, and other regional experts in blood disorders. 

Resources

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.

From Our Grantees

Genetics in Primary Care Institute   provides genetics information and tools to help primary care providers incorporate genetics into daily practice, as well as resources for patients.

The Pregnancy & Health Profile: A Risk Assessment & Screening Tool  go to exit disclaimer tablet-based tool helps prenatal providers and patients identify and discuss risk based on family history and make shared, informed decisions about prenatal testing and screening options.

A clinician with a mother and infant patient