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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. 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:
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Reason for
referral
-
Understanding of
genetics
-
Diagnoses under
consideration
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Perception of
disease status or risk
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Beliefs about
cause of disease
-
Perception of
disease burden
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Document
patient's birth history, past medical history and current status.
-
Obtain directed
family history in pedigree form using standing symbols, including:
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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
(See Sample
Family History and Pedigree (requires Adobe Acrobat Reader software,
available free at http://www.adobe.com) -- use BACK button to return to
GeneTests).
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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.
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Assess the
family's sources of psychosocial support (community, religious, family).
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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.
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Discuss
reproductive options, if and when appropriate, which may include:
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Pregnancy with
prenatal testing
-
Pregnancy
without prenatal testing
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Remaining
childless
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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).
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Review normal
grief responses and signs that might indicate the need for further
psychosocial support.
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Listen to the
whole story, and hear what this situation has meant to the family.
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Explore
strategies for communicating information to others, especially family
members who may be at risk.
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Provide written
materials and referrals to support groups (see below), other families with
the same or similar condition, and local and national service agencies.
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Parent support &
information:
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.
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Encourage family
to recontact the clinic when considering pregnancy or for updated
information.
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Be available to
answer future questions.
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 (see Clinic Directory on this site) 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.
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.
Reprinted with permission from GeneTests.
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The impact of a
disability can always be lessened to some degree by early intervention. |
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