What is a Genetic Consultation?

A genetic consultation involves evaluation of an individual or family for one or more of the following:

  • Confirming, diagnosing, or ruling out a genetic condition
  • Identifying medical management issues
  • Calculating and communicating genetic risks
  • Providing or arranging for psychosocial support

Who Provides Genetic Consultations?

Trained genetic practitioners include: medical/clinical geneticists (medical doctors), genetic counselors, and genetic nurses. Patients may be seen independently by a genetic counselor or nurse, but in cases where a diagnosis needs to be established, a medical geneticist must be directly involved.

What Happens in a Genetic Consultation?

Genetic consultations usually involve one or more visits and phone calls with genetic care providers. Occasionally, consultations can take place in groups (e.g., cancer or prenatal consultations) or by phone (e.g., routine or uncomplicated matters).

Assessment: Gathering information

  • Explore with the patient and family:
    • Reason for referral
    • Understanding of genetics
    • Diagnoses under consideration
    • Perception of disease status or risk
    • Beliefs about cause of disease
    • Perception of disease burden
  • Document patient’s birth history, past medical history, and current status.
  • Obtain directed family history in pedigree form using standing symbols, including:
    • The patient’s first degree (children, siblings, parents) and second degree (grandparents, grandchildren, aunts, uncles, nieces, nephews) relatives, and further removed as appropriate
    • Status of current pregnancies
    • Ethnic background
    • Presence of consanguinity
  • Obtain and review additional medical records, including diagnostic testing on patient and affected family member(s) as needed.
  • Review the family’s social history, education, employment, and social functioning.
  • Assess the family’s sources of psychosocial support (community, religious, and family).
  • Identify potential ethical issues such as confidentiality, insurability, discrimination, and non-paternity.
  • Perform physical examination of the patient and other family members as needed.

Evaluation: Interpreting medical and family history, results of physical examination and tests

  • Consult relevant references.
  • Compare patient’s history and exam to known diagnoses.
  • Discuss diagnostic impression.
    • Clear diagnosis – Share information about the condition
    • Differential diagnosis – Suggest further tests or evaluations
    • Unknown diagnosis – Discuss what known diagnoses are ruled out, follow over time

Communication: Sharing information about the condition (within the family’s ability to understand the information)

  • Review the details about the disorder in question including:
    • Expected course of the disease
    • Management issues, and possible treatments or interventions
    • Underlying genetic cause if known, including pattern of inheritance
  • Describe risks to family members compared with general population risks.
  • Discuss reproductive options, if and when appropriate, which may include:
    • Pregnancy with prenatal testing
    • Pregnancy without prenatal testing
    • Remaining childless
    • Parenting by adoption
    • Pregnancy by egg or sperm donation
    • Pregnancy following pre-implantation genetic diagnosis

Support: Helping the family cope

  • Recognize and discuss the emotional responses of family members to information given (which may include shock, disbelief, relief, fear, guilt, sadness, shame, acceptance).
  • Review normal grief responses and signs that might indicate the need for further psychosocial support.
  • Listen to the whole story, and hear what this situation has meant to the family.
  • Explore strategies for communicating information to others, especially family members who may be at risk.
  • Provide written materials and referrals to support groups (see below), other families with the same or similar condition, and local and national service agencies.

Follow-up: Maintaining ongoing communication

  • Arrange for follow-up diagnostic testing or management appointments, or communicate this need to the referring healthcare provider.
  • Document the content of the consultation for the referring healthcare provider and for the patient when appropriate.
  • Contact the patient to assess level of understanding and response to decisions made.
  • Encourage family to recontact the clinic when considering pregnancy or for updated information.
  • Be available to answer future questions.

Where Can You Get a Genetic Consultation?

Usually, genetic services are provided through a perinatology or genetics clinic which may be specialized by age group (e.g., prenatal, pediatric, adult) or by medical condition (e.g., cancer genetics). Sometimes genetic services are offered as part of a multidisciplinary evaluation in a specialty clinic. For services in Hawaii, please refer to the Genetic Services in Hawaii section.