Frequent Questions

By Mayo Clinic Staff

What is a genetic counselor?
Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and consulting.

They work as members of a patient's healthcare team, providing information and support to families who have members with birth defects or genetic disorders, and to families who may be at risk for a variety of inherited conditions.

Genetic counselors help patients reach appropriate decisions and adjust to complex information, uncertainties, or new diagnoses.

What does genetic counseling involve?
Genetic counselors frequently speak to patients about complex scientific and emotional topics. The issues may involve genetic conditions or birth defects, or the possibility of those things occurring. Genetic counselors often act as interpreters of medical information, and can be a valuable source of support if that information proves stressful.

Genetic counseling at Mayo Clinic in Scottsdale is offered as part of a comprehensive healthcare program. A genetic counseling consultation involves:

  • A complete family medical history evaluation
  • A discussion of the likelihood of being affected by a hereditary condition
  • Follow-up recommendations for medical management

When genetic testing is applicable, the genetic counselor will discuss the benefits, risks and limits of genetic testing. The majority of patients do not have genetic testing because it is not medically indicated or because of their personal choice.

Patients can prepare for a genetic counseling appointment by researching the health and medical conditions of extended relatives.

Why seek genetic counseling?

Patients may be referred for genetic counseling if they have a family history of, or have recently been diagnosed with:

  • Hemoglobinopathy (sickle cell disease, or thalassemia)
  • Cancer (especially a family history of multiple cancers or onset of the disease at younger-than-expected ages)
  • Factor V Leiden deficiency or other thrombophilia
  • Cystic fibrosis
  • A hereditary disorder
  • A genetic disorder
  • Familial neuropathy
  • Hereditary hemochromatosis
  • Huntington disease

Patients may also be referred for pre-pregnancy or pregnancy related issues, including:

  • Maternal age 35 or older at the time of delivery (34 for twin gestations)
  • Abnormal quad or triple screen (MSAFP) result
  • Abnormal ultrasound findings of a fetus
  • Multiple pregnancy losses (more than three spontaneous abortions)
  • Previous child with a congenital anomaly
  • Previous child born with a chromosomal alteration
  • Family history of mental retardation
  • Prior fetal/neonatal death or stillbirth
  • Alcohol or drug abuse during pregnancy
  • Exposure to radiation or chemicals during pregnancy
  • Maternal infection during pregnancy (toxoplasmosis, parvovirus)
  • Epilepsy or seizure disorder and/or taking seizure medication during pregnancy
  • Individual is found to have a chromosomal alteration or is a translocation carrier
  • Evaluation of birth family prior to adoption
  • Preconception genetic counseling for individuals at risk for genetic diseases, birth defects or miscarriages
  • Preconception genetic counseling to discuss screening for common genetic disorders