Approximately 19% of children in Maryland 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.

Across the diverse state of Maryland, there are more than 50 genetics clinics to help answer your family’s questions. Learn more about how an appointment with a genetics professional could help you and your family.

Learn about the Genetics Journeys from MD families

You are here because you are concerned about your child’s speech, learning and development, movement, growth, physical features, digestive or feeding issues, behavior, vision, hearing, heart defect, or any other complicated medical problem. You may also be here because you or your partner have been told you have a higher chance to have a child with a health issue, you have a family member with a genetic condition, or you believe your family’s medical issue could have a genetic explanation. Whatever it was that brought you to this page, we want to help you get connected to the right information and services for your child.

How can a genetics referral help my child?

  • Your genetics are responsible for making you, you. We inherit all of our genetics from our biological mom and dad. Sometimes, we have changes in our genetics that can cause certain symptoms, cancer, or conditions.
  • Meeting with a genetics team can help you identify the cause of a specific problem, the risk your child may have at developing certain conditions, and/or the risk other family members may have at also inheriting this disease. Finding a genetic cause can provide answers, information for others in the family, and even qualify your child for specific treatments. Conversely, not finding a genetic cause can help rule out a lot of conditions when looking for a diagnosis.
  • If you are thinking of becoming pregnant, you can meet with a prenatal genetic counselor. You may be interested or referred to prenatal genetic services if you have an abnormal ultrasound, a family history of a specific condition, infertility, older age, curiosity, carrier screening, and many more.

What happens at a genetics appointment?

  • At a genetics appointment, you will often meet with a genetic counselor first. They will ask you detailed questions about your family history, you or your child’s medical history, and your child’s developmental history. Often a doctor will join the session to do a physical exam. You will likely be offered genetic testing.The genetic counselors are trained in both genetics and counseling, so they will work with you to help make the best decision for you. Of note, every session can be slightly different!
  • If you are attending a prenatal genetics appointment, the appointment will be very similar to the one outlined above. However, the genetic testing options you may be offered typically include screening tests, such as NIPT and carrier screening, or diagnostic tests such as an amniocentesis or a CVS (chorionic villus sampling).

What information should I gather before I meet with genetics?

  • It is helpful to have your detailed family health history, especially any  information on people with a similar diagnosis or symptoms. It would also be helpful to gather any questions you may have.
  • Why do we ask you about your family health history? Find out here Your family health history

How do I find a genetics specialist in my area?

Where can I find resources for parents?

Not finding what you’re looking for?  Use this link to search our nationwide list of genetics clinics: Find a Genetics Clinic | NYMAC | Regional Genetics Network (nymacgenetics.org)

Explore other genetics resources for patients and families: Patients & Families | NYMAC (nymacgenetics.org)

According to the American Cancer Society, cancer is a common disease, and approximately 1 in 3 people will develop cancer in their lifetime.  However, about 5-10% of all cancers have a hereditary cause. This means there is a change in a gene that is making some people more susceptible to developing a specific type of cancer, and this change is being passed down generation to generation.

Why see a genetic counselor? 

  • You may be interested or referred to cancer genetic services if you have a personal diagnosis of cancer or a strong family history of cancer. Typically, cancer genetics focuses on cancer at young ages, multiple types of cancer in the same person, the same cancer throughout a family, and specific types of cancer such as breast, ovarian, colon, and endometrial cancers. A genetic counselor can help assess if the cancer in the family is hereditary, they can identify who in the family is at risk of inheriting a hereditary cancer, and they can discuss cancer screening recommendations for those at an increased risk.

When should I be concerned that the cancer in my family is hereditary? 

  • Some “Red Flags”
    • Young age at cancer diagnosis (before the age of 50)
    • Multiple cancer diagnoses in the same person
    • Multiple people on the same side of the family with the same cancer diagnosis (especially if it is a rare type of cancer)
    • Cancers occurring in both pairs of an organ system (for example, having cancer in both breasts)

What are some common hereditary cancer syndromes?

  • Hereditary Breast and Ovarian cancer syndromes
    • Genetic changes in specific genes, such as the BRCA1 or BRCA2 genes, can predispose someone to an increased risk of developing breast and/or ovarian cancer
  • Lynch syndrome
    • There are a few genes responsible for Lynch syndrome. Having a genetic change in any of these genes can predispose someone to an increased risk of developing colon and/or endometrial cancer.
  • Li Fraumeni syndrome
    • Genetic changes in the TP53 gene can predispose someone to an increased risk of developing more than one type of cancer, including brain and/or breast cancer, osteosarcoma, soft-tissue sarcoma, adrenocortical carcinoma and leukemia.

How can I find a genetics specialist in my area?

Not finding what you’re looking for?  Use this link to search our nationwide list of genetics clinics: Find a Genetics Clinic | NYMAC | Regional Genetics Network (nymacgenetics.org)

Explore other genetics resources for patients and families: Patients & Families | NYMAC (nymacgenetics.org)

You are here because you are concerned about you or a family member. This concern can be due to cancer, unexplained sudden death, kidney disease, diabetes (without typical risk factors), epilepsy, severe vision problems, hearing issues, movement disorders, anemias (low blood counts), unusual childhood conditions, or any other complicated medical issues. Whatever it was that brought you to this page, we want to help you get connected to the right information and services for you and your family.

Why see a genetic counselor? 

  • You may be interested or referred to genetic services if you have a specific condition or symptom that indicates there could be a genetic cause. A genetic counselor can help assess if the health issue in your family is hereditary and caused by genetics, identify who else in the family is at risk, and discuss the available testing and screening recommendations to those at risk.

What types of conditions may be inherited?

NOTE: This is not a comprehensive list of conditions, however, below is information on some conditions that affect these body systems. 

How do I find a genetics specialist in my area?

Not finding what you’re looking for?  Use this link to search our nationwide list of genetics clinics: Find a Genetics Clinic | NYMAC | Regional Genetics Network (nymacgenetics.org)

Explore other genetics resources for patients and families: Patients & Families | NYMAC (nymacgenetics.org)

What to Expect at a Genetics Appointment

Genetic counseling is a process where you can learn more about genetic conditions and how they may be affecting you, your child, and your family. Meeting with a genetic counselor can help identify if a condition or symptom is genetic, who is at risk for inheriting these symptoms or conditions, and what genetic testing options are available. You may be interested in genetic counseling at various life stages, which includes planning for pregnancy, during pregnancy, childhood, adulthood, and late in life.

At a genetics appointment, you will often meet with a genetic counselor first. They will ask you detailed questions about your family history, you or your child’s medical history, and your child’s developmental history. Often a doctor will join the session to do a physical exam. You will likely be offered genetic testing. The genetic counselors are trained in both genetics and counseling, so they will work with you to help make the best decision for you. Of note, every session can be slightly different!

If you are attending a prenatal genetics appointment, the appointment will be very similar to the one outlined above. However, the genetic testing options you may be offered typically include screening tests, such as NIPT and carrier screening, or diagnostic tests such as an amniocentesis or a CVS (chorionic villus sampling).

It is helpful to have your detailed family health history, especially any information on people with a similar diagnosis or symptoms. It would also be helpful to gather any questions you may have.

Why do we ask you about your family health history? Find out here Your family health history

What is genetic counseling?

Genetic counseling is a process where you can learn more about genetic conditions and how they may be affecting you, your child, and your family. Meeting with a genetic counselor can help identify if a condition or symptom is genetic, who is at risk for inheriting these symptoms or conditions, and what genetic testing options are available. You may be interested in genetic counseling at various life stages, which includes planning for pregnancy, during pregnancy, childhood, adulthood, and late in life.

What happens at a genetics appointment?

At a genetics appointment, you will often meet with a genetic counselor first. They will ask you detailed questions about your family history, you or your child’s medical history, and your child’s developmental history. Often a doctor will join the session to do a physical exam. You will likely be offered genetic testing. The genetic counselors are trained in both genetics and counseling, so they will work with you to help make the best decision for you. Of note, every session can be slightly different!

If you are attending a prenatal genetics appointment, the appointment will be very similar to the one outlined above. However, the genetic testing options you may be offered typically include screening tests, such as NIPT and carrier screening, or diagnostic tests such as an amniocentesis or a CVS (chorionic villus sampling).

What information should I gather before I meet with genetics?

It is helpful to have your detailed family health history, especially any information on people with a similar diagnosis or symptoms. It would also be helpful to gather any questions you may have.

Why do we ask you about your family health history? Find out here Your family health history

Resources for Children and Families with Genetic Conditions in MD:

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

Newborn Screening: The State of Maryland and the Office for Genetics and People with Special Health Care Needs are dedicated to screening newborn infants for conditions that can cause serious illness, developmental delays, and even death if not detected in the first few weeks of life. Newborn Metabolic Screening

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. ZERO TO THREE Maryland Resources and Services

Maryland Department of Disabilities (MDOD): The Maryland DOD is charged with coordinating and improving the delivery of services to individuals with disabilities in the state of Maryland. Maryland Department of Disabilities

Maryland PROMISE: MD Transitioning Youth with Disabilities provided enhanced and coordinated services and supports to Maryland youth between the ages 14 -16 who received Supplemental Security Income (SSI) benefits. Maryland PROMISE

Maryland Department of Health Children and Youth With Special Healthcare Needs (CYSHCN): The CYSHCN Program is a joint federal/state and local program. It is offered through the Queen Anne’s County Department of Health free of charge for any county resident who has a child with a chronic or disabling condition which interferes with normal growth and development. The program is staffed by a registered nurse who works with families to locate and secure services for the child and to provide support for needs that are otherwise unmet. Maryland Department of Health Children and Youth With Special Healthcare Needs

Disability Rights Maryland (DRM):  This non-profit 501(c)(3) organization is Maryland’s designated Protection & Advocacy agency (formerly known as “Maryland Disability Law Center”). DRM is federally mandated to advance the civil rights of people with disabilities. We provide free legal services to Marylanders of any age with all types of disabilities (developmental, intellectual, psychiatric, physical, sensory, learning, traumatic brain injury), who live in facilities, in the community or who are homeless. Disability Rights Maryland

Early Intervention and Special Education Services: The Maryland State 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.  Their focus is to promote equity and excellence for every Maryland child, especially those who have been historically underserved. Early Intervention and Special Education Services

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 for child and adolescent health as well as family planning and reproductive health. Maternal and Child Health Bureau

MD Medicaid: Maryland Health Connection helps to explain what Medicaid is and how to enroll. The site provides eligibility criteria and lays out step by step the procedure on how to apply. They help connect people and families to low cost or health care. MD Medicaid

Maryland Children’s Health Program (MCHP): This organization provides health care to uninsured children up to the age of 19 who live in a low income household. 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. Maryland Children’s Health Program

Parents’ Place of Maryland: The Parents’ Place of Maryland (PPMD) is the statewide special education and health information center. Their mission is to empower families as advocates and partners in improving education and health outcomes for their children with disabilities and special health care needs. They collaborate with families, the PPMD staff, Maryland Department of Health (MDH) Office for Genetics and Children with Special Health Care Needs (OGPSHCN), the Johns Hopkins School of Public Health, and other entities. Parents’ Place of Maryland  

Maryland Coalition of Families: They have a wide array of support groups that range from groups for parents of children with autism, mental illnesses, behavioral challenges, health challenges, and child loss. They have support groups for all ages, sexes, and geographic locations. Maryland Coalition of Families

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

The Arc Family Support Groups: The Arc provides support groups in Baltimore for children with special needs. There is a Dads group, a Mom to Mom group, and a sibshop group for siblings. Each group meets separately, more information can be found on their website. The Arc Family Support Groups

Supporting Families Project: The supporting families project helps families of individuals with intellectual and developmental disabilities. They work to provide support and resources to families such as planning for life, searching for providers, resources for disability services, and tips for caregivers. Supporting Families Project

Autism: Autism | Maryland Chapter | American Academy of Pediatrics

Down syndrome: Welcome to GiGi’s Playhouse Annapolis

Sickle Cell disease: Maryland Sickle Cell Disease Association

Explore other genetics resources for patients and families: Patients & Families | NYMAC (nymacgenetics.org)

Resources for Providers

Meet the NYMAC MD Team

Genetics Clinics in MD

Resource Documents

Is An Appointment With A Genetics Specialist Right For Your Child?
Are You Concerned About Your Family History of Cancer?
Is An Appointment With A Genetics Specialist Right For Your Family?

Find A Genetics Clinic