Children & Adults 

• 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)

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

This information has been adapted for use with permission from Gene Reviews website.

• 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.

• 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

• 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

• 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.

• 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.

Revised April 2012