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Children & Adults
Family physicians or other medical specialists refer families for a medical genetics consultation for some of these reasons:
- Families in which one or more members have a serious birth defect or genetic disease
- Families who have a child with multiple congenital anomalies, serious developmental delay, or an unexplained abnormality of growth
- Families in which more than one close relative has the same disease (e.g., mental retardation, deafness, blindness, cancer, early heart attacks, or schizophrenia)
- Couples who have had repeated stillbirths or a stillborn baby with birth defects
- Couples who are close blood relatives (e.g., first cousins)
To make a referral, please ensure your physician completes the appropriate form located on the page Contact Us/Making a Referral.
What is a Genetics Consultation?
This information has been adapted for use with permission from Gene Reviews website.
A genetics 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
What Happens in a Genetics Consultation?
Genetics consultations usually involve one or more visits and phone calls with genetic care providers.
Who Provides Genetics Consultations?
Trained genetic practitioners include medical geneticists and genetic counselors. Patients may be seen independently by a genetic counselor, but in cases where a diagnosis needs to be established, a medical geneticist must be directly involved. A genetic consultation will include some of the following steps:
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, 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 the medical and family history and the results of the 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 and follow over time
Communication: Sharing information about the condition
- 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, and 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, 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 health care provider and for the patient when appropriate.
- Contact the patient to assess level of understanding and response to decisions made.
- Encourage family to contact the clinic when considering pregnancy or for updated information.
- Be available to answer future questions.
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