Genetic Consultation

What is a Genetics Consultation?

What Happens in a Genetics Consultation?
Where Can You Get a Genetics Consultation?
Who Provides Genetics Consultations?

Who should have a Genetics Consultation?

What is a Genetics Consultation?

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     (go top)

What Happens in a Genetics Consultation?

Genetics 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 standard 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 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 preimplantation 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, 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.                          (go top)
　
Where Can You Get a Genetics Consultation?

Clinical genetic services may be located in a hospital or medical center or in a private office. 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.                                                                              (go top)

　
Who Provides Genetics Consultations?

Trained GENETIC PRACTITIONERS include: medical geneticists, genetic counselors, and genetic nurses. The role of the genetic counselor or nurse is similar to that of a nurse practitioner. 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.  (go top)

　

Who should have a Genetics Consultation?

Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation whether or not testing is available for that condition. Many people are seeking information and coping strategies as much as test results.

Reasons for referral for a genetics consultation are often grouped by age: Preconception/Prenatal, Pediatric, and Adult. Common reasons for referral are given below, but these lists are not exhaustive.

Consult your local genetics clinic to determine whether a genetics referral is appropriate.

Common Reasons for a Preconception/Prenatal Genetics Consultation:

Mother will be 35 years or older at delivery
Abnormal results from a triple marker screen or fetal ultrasound
Personal or family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality
Exposure to a known or suspected teratogen
Mother has a medical condition known or suspected to affect fetal development
Two or more pregnancy losses
Close biological relationship of parents
Ethnic predisposition to certain genetic disorders

Common Reasons for a Pediatric Genetics Consultation:

Abnormal newborn screening results
One or more major malformations in any organ system
Abnormalities in growth
Mental retardation or developmental delay
Blindness or deafness
Presence of a known or suspected genetic disorder or chromosomal abnormality
Family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality

Common Reasons for an Adolescent/Adult Genetics Consultation:

Mental retardation
Personal or family history of hereditary cancers
Personal or family history of a known or suspected genetic condition or chromosomal abnormality
Blindness or deafness
Development of a degenerative disease
Risk assessment for pregnancy planning                                             (go top)