Genetic Counseling

Pregnancy or family planning is the most common reason people see genetic counselors. Genetic counselors meet with you when you’re pregnant (during the prenatal period) or thinking about becoming pregnant.

Your family also benefits from genetic counseling after certain ultrasound findings. This could be a cleft lip/palate, heart defect, a marker of a chromosome condition or something else. You’ll discuss potential genetic causes, testing options and how a genetic diagnosis may impact the outcome of a pregnancy.

You might consider seeing a prenatal genetic counselor if you and your partner:

• Want to assess your risk for having a baby with a birth defect, chromosome or inherited conditions. For example:
  • Mother will be 35 or older at the time of delivery
  • Family history of inherited condition
  • Maternal health condition, including diabetes, epilepsy and Graves’ disease
  • Positive carrier screening (test that showed you or your partner have a gene that could cause an inherited condition)
  • Positive screening for chromosome conditions (test that showed your baby could have a genetic disorder such as Down syndrome)
• Want to determine possible causes for infertility, pregnancy losses or stillbirths.

Many types of cancer have a hereditary link, meaning you can inherit a risk for getting that cancer.

Families with inherited or family clusters of cancer are at an increased risk for certain cancers. For these families, personalized screening may be recommended which could include starting screening at an earlier age and more frequent screening than the general population.  Screenings can detect cancer before symptoms develop, improving your long-term outcome.

Cancer genetic counselors help people understand their risk for cancer and how to be proactive with their health.

You might consider talking to a cancer genetic counselor if your family has:

• Breast cancer(s) diagnosed before age 50
• Ovarian, pancreatic or male breast cancer (any age)
• Breast and/or ovarian cancer at any age and Ashkenazi Jewish ancestry
• 3 or more breast cancers (same side of family)
• Colon cancer diagnosed under the age of 50
• 2 or more colon and/or endometrial cancers occurring (same side of family)
• Total of 10 or more precancerous colon polyps
• Personal history of multiple primary cancers
• Certain rare cancers or tumors, including medullary thyroid cancer, retinoblastoma, hepatoblastoma, adrenocortical carcinoma and pheochromocytoma

Genetics can provide helpful information when there are concerns about a child's health or development.

You might want to consider seeing a pediatric genetic counselor for the following conditions:

• Developmental delay
• An autism spectrum disorder
• Multiple health problems or birth defects, including cleft lip or palate, a heart defect or spina bifida
• Metabolic disorders, such as PKU or galactosemia
• Sensory impairments, meaning a problem with vision or hearing
• Intellectual disability of unknown cause
• Abnormal physical features
• Family history of a genetic condition
• Known or suspected genetic disorder such as Down syndrome, cystic fibrosis or muscular dystrophy
• Any suspected genetic condition

You may want to see a genetic counselor if you or a close relative has:

• Early, sudden or unexplained death due to a heart problem
• Heart attack before age 50 (men) or age 60 (women)
• Cardiomyopathy (often called an enlarged heart), including types like thickened heart muscle, stretched heart muscle and heart rhythm problems
• Arrhythmia (abnormal heartbeat), including Long QT syndrome, Brugada syndrome and ventricular tachycardia
• Aortic aneurysm or blood vessel rupture  
• Unusually high cholesterol or triglycerides, especially at a young age
• Heart defect at birth

Genetic counseling is also available to individuals with a family history of:

• Neurodegenerative conditions, such as early onset familial Alzheimer’s disease, frontotemporal dementia, ALS, Parkinson disease and others
• Certain kidney disorders, including early kidney failure and polycystic kidney disease
• Other genetic conditions