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Genetic Counseling: Who to Refer and What They Should Expect


A referral to genetic counseling should be considered in a variety of clinical scenarios, and can be made regardless of whether or not genetic testing is available for the suspected condition. It is helpful to emphasize that a genetic counseling referral is an opportunity to better understand the clinical picture that will help guide current and future management.

Key Factors About Genetic Counseling

  • It is a process, and may require one or more consultations depending on the indication for referral and availability of genetic testing and need to schedule results disclosure sessions
  • A typical encounter will involve review of the following information and concepts
    • Family and medical histories | Mode of inheritance | Typical natural progression of the condition | Differential diagnoses | Occurrence and/or recurrence risks | Genetic or other testing options | Management, prevention and screening options | Education resources | Possible clinical research opportunities
  • Referrals for genetic counseling should be considered in situations such as
    • A personal and/or family history of certain conditions that seem to occur more frequently than expected
    • Disorders that may be relatively common, but diagnosed at younger ages than expected for the condition
      • This may include (but is not  limited to) diagnoses of cancer, cardiac disease, neurological or endocrine diseases
  • Women with a history of
    • Infertility | Recurrent pregnancy loss | Pregnancy with an increased risk for a congenital anomaly or a genetic syndrome


Referral to genetic counseling can be an important aspect in the overall medical management of a patient, and their family or future offspring.  Genetic counseling may or may not involve options for genetic testing, but will likely provide important information about a patient’s level of risk for the indication that prompted the referral. The aim of genetic counseling is to provide enough information to allow for informed decisions.


  • The goal of genetic counseling is to help individuals and families better understand their risk for a particular medical condition so that they are informed
    • Both healthcare professionals and their patients can be better advocates if armed with knowledge
  • It is helpful if the referral includes as much relevant background information and clinical reports as possible
    • Encourage your patient to collect as much family history as they can about medical diagnoses in the family, ages of onset and ages of death, if applicable
    • Family photographs can also be helpful in some circumstances
  • Be mindful of timely referrals if decisions regarding a pregnancy, surgical or other treatments will depend on the genetics evaluation
  • Prepare your patient for the possibility that there will not always be a definitive answer possible, or a genetic test that will confirm or rule out a diagnosis
  • Understand that genetic counseling is typically non-directive, with the goal of educating the patient to make an informed decision based upon their circumstances, and patient decisions may not always be what was expected at the time of referral
  • Communicate directly with the genetic counseling provider if needed, to best understand the outcome and interpretation of genetic testing, if performed

Locate a Genetic Counselor or Genetics services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC