Sanford Clinic Women's Health

What is Genetic Counseling?

Genetic Counseling is an in-depth discussion with a genetic counselor about the occurrence of, or risk for, a genetic disorder in a person or family. The goal of genetic counseling is to help a person or family understand the details of a genetic disorder, risks to family members, risks of it happening again, available testing and management. Additionally, a genetic counselor provides information about genetic testing and management choices in the context of the patient's view of the risks, as well as ethical and religious beliefs.

What is a Genetic Counselor?

A genetic counselor is a uniquely trained healthcare provider with a Master's degree in Medical Genetics-Genetic Counseling from an accredited school. Genetics is a rapidly expanding, complicated and often confusing branch of medicine. A genetic counselor's role is to help make the complex world of genetics more understandable to a patient. He/She has expertise in helping people understand genetic diseases and how genetic testing could affect them and their families.

What happens when a person meets with a Genetic Counselor?

During a visit with a genetic counselor, the genetic counselor will ask specific questions regarding an individual and family's medical history and discuss any concerns that are identified. He/She will identify and review any genetic concerns that someone may have for themselves, their family members or pregnancies.

Often genetic counselors can determine the risk of occurrence or recurrence of a condition. If tests are available for genetic conditions in the family, the genetic counselor will review them all in great detail, including the positives and negatives, about any available test. Some common components of a genetic counseling session include:

  • discussion of the reason for referral
  • review of family history and personal medical background
  • explanation of any risk factors identified
  • explanation of possible diagnosis
  • discussion of any available tests including the risks, benefits and limitations of each test
  • aid in decision making about available tests, treatment options or management options
  • distribution of resources and educational material as needed; and referral to support groups or other medical specialists when necessary

Who should consider Genetic Counseling?

People in the following situations will often find a visit with a genetic counselor helpful:

  • individuals with personal or family histories of colon cancer (under the age of 45), breast cancer (under the age 50), ovarian cancer (any age) or melanoma
  • couples whose infant has a genetic disease diagnosed by routine newborn screening couples with multiple miscarriages
  • couples experiencing infertility, since many causes of infertility have a genetic or chromosomal component
  • individuals who have an inherited disorder or birth defect or who have a hereditary disorder in their family
  • women who are pregnant, or planning to be pregnant, after the age of 35
  • women whose ultrasound, prenatal screening or blood testing indicate an increased risk for complications or birth defects
  • couples who have a child with a chromosome disorder, inherited disorder or birth defect
  • people concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy (i.e. exposure to radiation, medications, illegal drugs, chemicals, or infections)
  • couples who would like testing or more information about diseases that occur frequently in their ethnic group; such as Tay-Sachs, sickle cell, thalassemia, or cystic fibrosis
  • couples who are first cousins or other close blood relatives