Pediatric and Adult Genetic
Evaluation and Consultation Services
Pediatric and
adult genetic services include a genetic evaluation and
consultation provided by a clinical geneticist. Clinical
geneticists are physicians who have primary medical training in
another area of medicine and are specially trained in clinical
medical genetics. Often, a clinical geneticist works with a
genetic counselor. Genetic counselors are professionals who
completed postgraduate education in medical genetics and
counseling.
Who can
benefit from genetic evaluation and consultation services?
(PLEASE NOTE: This list is meant to serve as a guideline and may
not include every possible indication for referral for genetics
services.)
Newborns,
Children or Adults with:
-
Birth
defect(s)
-
Abnormal
newborn screening result
-
Mental
retardation
-
Learning
disabilities
-
Developmental delay
-
Autism or
autistic features
-
Speech
delay
-
Growth
failure
-
Failure to
thrive
-
Neuropsychiatric disorders
-
Hearing
impairment
-
Visual
impairment
-
Unusual
physical features
Adolescents or
Adults with:
What is the
purpose of a genetics evaluation?
-
To
establish or confirm a specific diagnosis, if possible
-
To
complete testing that might help confirm or rule out a
specific disorder or group of disorders.
-
To assess
recurrence risks for family members (risks for future
children or other relatives)
-
To provide
individualized, education and support
-
To
make referrals to appropriate specialists, if indicated
-
To
outline and provide future medical management and follow up
Questions
families often have during a genetic consultation:
-
Why did
the condition occur?
-
What
future problems may occur with the condition?
-
Can these
problems be avoided or alleviated?
-
How can
the symptoms be managed?
-
What are
the chances that the condition may occur again in another
child?
-
Who else
in my family may be affected?
Common
reasons for established patients to seek genetic services:
-
Assess new
medical problems and related concerns
-
Assess
compliance with and efficacy of recommended management
-
Provide
ongoing, age appropriate education, including new testing
options and management guidelines
-
Evaluate
other at risk family members
What
Happens During a Genetic Evaluation?
A genetics
evaluation generally includes:
-
Discussion
of the reason for the referral
-
Review of
the family, medical and pregnancy histories
-
A detailed
physical examination looking for unique or unusual physical
characteristics that might offer clues to the underlying
cause of a condition.
-
Once the
family history is reviewed and the physical exam completed,
the clinical geneticist discusses his or her impressions
with the family. Sometimes testing may be recommended to
help make a diagnosis.
This is a very
individualized process. The genetic specialist can attempt to
answer all of a family’s questions about what to expect in the
future, current medical and/or health implications, available
treatment options, the chance to have additional children with
the same diagnosis, other family members that may also be at
risk and available prenatal diagnostic options.
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