Genetic Counseling at Summit Health provides risk assessment and genetic testing for individuals and couples with family concerns such as:
- Blood disorders, including sickle cell disease, hemophilia, and thalassemia
- BRCA1 and BRCA2 gene and gene mutation
- Chromosomal abnormalities
- Congenital heart disease
- Genetic disorders
- Giving birth at age 35 years or older
- Infertility (reproductive issues), stillbirth (a child born dead after 20 weeks of pregnancy), or several miscarriages
- Inherited disorders such as hemophilia, cystic fibrosis, or fragile X syndrome
- Mental retardation or developmental delay
- Metabolic disorders of unexplained origin
- Neuromuscular abnormalities such as muscular dystrophy
- Prenatal genetic evaluation, including those for prenatal exposures
- Sickle-cell anemia
- Tay-Sachs disease
What is Genetic Screening?
If you are planning to have a baby, you might be concerned about illnesses that your child might inherit from one or both sides of your family. You can ask your health care provider about genetic counseling or genetic screening to learn more about inherited diseases.
You may have genetic testing before you get pregnant. You also can have genetic testing at your first prenatal visit and later in your pregnancy.
Cancer Genetic Counseling
Most cancers are not inherited; however, in 5% to 10% of families there might be a genetic predisposition for certain cancers. A consultation with a genetic counselor can provide the opportunity to estimate the risk for cancer based on:
- Maternal and paternal family histories
- Age(s) when cancer was diagnosed
- Clustering of related cancers on either side of the family
Our genetic counselor is experienced in risk assessment and options for families who might have a predisposition for breast/ovarian cancer, colon cancer, or any other cancer that might be inherited.
How is a Genetic Evaluation Done?
Your health care provider or board-certified genetic counselor will review your family and personal medical histories. He or she is likely to ask you about diseases, disorders, and birth defects in your families as far back as 3 generations. Your doctor or genetic counselor also will discuss the benefits and risks of testing. Both parents might have blood tests even before getting pregnant. If you are pregnant, the baby also might be tested.
Your health care provider or counselor will discuss the genetic screening results with you. If there is a problem, they will help you understand it. They will describe your choices for prevention and treatment.
Genetic testing should be accompanied with a genetic consultation.