Approximately 20.3% of children in Pennsylvania have one or more special health care needs. Sometimes these health challenges can be caused by changes in our genes. Genetics providers help families learn whether genetic changes may explain the health conditions in their family and connect families to appropriate care.

To address the unique needs of families across Pennsylvania, a diverse group of stakeholders met over the course of a year to share their perspectives and experiences about the barriers families face when trying to access genetic services in the state. The team includes both genetic and non-genetic healthcare professionals, families and public health representatives. Together they identified the key obstacles that are preventing local families from obtaining needed genetic services. Currently, the team is brainstorming ideas on how to address one of these pressing issues.

Visit this webpage for updates and details about their upcoming project and efforts to improve access to genetic services in Pennsylvania.

Resources for Children and Families with Genetic Conditions in PA:

Pennsylvania Department of Health (DOH): The Pennsylvania DOH is an agency of the government of PA responsible for public health issues.  It works to support and improve the health and safety of people in PA through disease pre​vention, access to care, quality management, and community engagement.  PA Department of Health 

Newborn Screening Program: The newborn screening program is completed for every newborn infant to test for conditions that can cause serious illness, developmental delays, and even death if not detected in the first few weeks of life. Newborn Screening FAQs   and Newborn Screening Program 

Zero to THREE Zero to Three  works to ensure that babies and toddlers benefit from the family and community connections critical to their well-being and development. Healthy connections help build babies’ brains. They provide resources for parents as well as expected milestones.  ZERO TO THREE 

Services for Persons with Disabilities: Within the department of human services, there are services for persons with disabilities. This includes in-home care services, voting accommodations, and employment services. The services vary by county, but they have contact information for every county to learn what services are in your area. Services for Persons with Disabilities 

Disability Rights Pennsylvania (DRP):  This organization is dedicated to providing Pennsylvanians with disabilities answers to questions or supports. They work to improve disability service and social systems, ensure civil rights, empower the community, and provide technical and training assistance. They also provide a number of self-advocacy guides. Disability Rights Pennsylvania 

Early Intervention: The PA Department of Education is a dedicated team of educators, specialists, administrators, communicators, and collaborators whose mission is to provide each learner with a strong foundation for his or her future. They provide information on what early intervention is and how to apply for it. PA Early Intervention 

PA’s Promise for Children: The PA Promise for Children provides information on early intervention and how to get connected to these services. They also provide information on developmental milestones, the Infant Early Learning GPS, and community inclusion for children with disabilities. PA’s Promise for Children 

Maternal and Child Health Bureau: The Maternal and Child Health Bureau strives to support women and children in their health needs. Their goal is to reduce inequities and improve health outcomes. They also provide resources and programs for children and adolescent health as well as family planning and reproductive health. Maternal and Child Health Bureau 

PA Medicaid: The department of human services provides information on medical assistance (Medicaid) and how to apply. The site provides services that may be available whether or not you are eligible and information on providers that accept MA patients. They help connect people and families to low cost or health care. PA Medicaid 

PA Children’s Health Insurance Program (CHIP): This organization provides health care to uninsured children up to the age of 19 who are not insured. This organization helps provide children and their parents the resources for applying for health care. This support includes doctor visits, hospital visits, dental and vision care, transportation, and more. PA CHIP 

Special Kids Network (SKN): The SKN hotline helps families and providers access local services and supports for children and youth with special health care needs. These services can include education, transportation, child care, medical assistance programs, and many more. Special Kids Network 

The Peal Center: The Peal Center works to educate and empower families to ensure their children with disabilities and special health care needs lead rich and active lives. They provide events and training, resource specialists, and various resources for families. The Peal Center 

Parent to Parent PA: Parent to Parent PA connects families of children and adults with disabilities or special needs to other families who have a similar journey. They provide support and community for many families. Parent to Parent

Parents of Amazing Children- Special Needs Family Support Groups: This group provides support to the central PA region (located in Harrisburg) for families of any disability, including Autism, Down syndrome, ADHD, learning disabilities, and more. Parents of Amazing Children

The Arc: The Arc provides resources for parents of children with autism, cerebral palsy, spina bifida, ADD, epilepsy, Down syndrome, and more. It also provides resources for community involvement, child development, individuals with disabilities, and child-care services. The Arc

Resources for Siblings of People with Disabilities: This site includes information on various networks for siblings of disabled children, connection to other siblings, books, and disability resources in PA Sibling Resources

Meet the NYMAC PA Team

Genetics Clinics in PA

Find A Genetics Clinic