Genetic Consultation

General Consultation

Genetic consultation provides detailed information, options and support to an individual or family about the occurrence of birth defects or genetic disorders and provides discussions regarding the risk for a variety of inherited conditions.

Genetic consultation may help an individual or family to:

• Understand the medical and/or developmental aspects of a genetic condition.
• Understand the chance for an individual, children or family members to have the condition.
• Learn about current genetic testing, screening, potential risk reducing and research options. q Adjust to the personal and family issues related to a genetic disorder.
• Learn about support resources.

Genetic consultation may be requested for a variety of reasons, including:

• A family history of a genetic disorder such as muscular dystrophy, cystic fibrosis, Down syndrome.
• Concerns about cancer risk based on family history.
• Newborn Screening test results that may indicate increased risk of a genetic disorder, such as for cystic fibrosis or deafness.
• An interest in genetic testing to help clarify risk for a hereditary condition such as for Huntington disease and for certain cancers.
• Concern about risk to a future pregnancy for a genetic condition because of older parental age, a previous child with or family history of a genetic disorder, history of multiple miscarriages, stillborn baby or a baby that died in the newborn period.
• Concern about carrier status for genetic conditions that occur more frequently in certain ethnic groups such as:
  • Caucasian – cystic fibrosis
  • African-American – sickle cell disease, beta thalassemia
  • Mediterranean – beta thalassemia
  • Asian – alpha thalassemia
  • French Canadian – Tay Sachs
  • Jewish – Tay Sachs, canavan, cystic fibrosis, Bloom, Gaucher, Fanconi anemia, Neimann-Pick Genetic counseling is provided by Board Certified, experienced genetic counselors in collaboration with the medical geneticist. Genetic counselors are health professionals with a master's degree in the areas of medical genetics and counseling.