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Genetic Counseling

What is Genetic Counseling?

Genetic counseling involves working with an individual or family at potential risk for an inherited condition or birth defect. It relies on communication skills to help individuals and families to understand how inheritance works and what causes genetic conditions. Counseling may be provided by specially trained counselors, physicians or nurses.

There are four basic steps in providing genetic counseling services:

  1. Diagnosis - This requires taking an accurate and detailed family and medical history and possibly conducting a physical examination and laboratory testing.
  2. Information Counseling - Communicating information and education to the patient and family is an important step in the process.
  3. Supportive Counseling - Providing emotional and psychological support for families, as well as referral to support groups concerning a specific condition, is an important role for the genetic counselor.
  4. Follow-up - The counseling session and the long-term medical recommendations should be summarized in a follow-up letter to the patient. Who Benefits from Genetic Services?

Who Benefits from Genetic Services?

  • Women whose pregnancy may be at increased risk for complications or birth defects based on age, blood tests, ultra-sound findings or family history
  • Women who have had two or more miscarriages, a stillbirth or a baby who died
  • Women considering pregnancy or who are pregnant and taking prescription medication
  • Couples who would like prenatal testing or more information about genetic conditions that occur more frequently in their ethnic group
  • Couples who are blood relatives
  • Parents whose child has been diagnosed with a genetic condition, mental retardation or birth defect
  • Individuals who are concerned about their personal risk for disease based on lifestyle, occupational exposures, medical history or family history
  • Individuals who are concerned about their risk of developing cancer based on personal or family history

What Should You Ask a Genetic Counselor?

  • What causes this condition?
  • What are the features of this condition?
  • What are the long-term effects of this condition?
  • What is the life expectancy of someone with this condition?
  • How is this condition treated?
  • Is there a cure for this condition?
  • What other health care professionals should I see?
  • What special care does a person with this condition require?
  • Will this condition improve or worsen over time?
  • Are there tests available to see if a person is affected with or is at risk for this condition?
  • How accurate are the tests for this condition?
  • Is this condition passed from one generation to the next?
  • Can a person not have this condition but still pass it on to his or her children?
  • Can a person get this condition from being around others who have it?
  • Could my children or siblings have this condition?
  • How will this diagnosis affect my health/life insurance?
  • Where can I go for a second opinion?
  • What are the medical costs likely to be?
  • Is there financial assistance available for individuals with this condition?
  • Are there organizations or support groups where I can talk to other people with this condition?
  • When might it be appropriate to see you again?