Pediatric and Adult Genetic
Evaluation and Consultation Services
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
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
Children or Adults with:
newborn screening result
What is the
purpose of a genetics evaluation?
establish or confirm a specific diagnosis, if possible
complete testing that might help confirm or rule out a
specific disorder or group of disorders.
recurrence risks for family members (risks for future
children or other relatives)
individualized, education and support
make referrals to appropriate specialists, if indicated
outline and provide future medical management and follow up
families often have during a genetic consultation:
the condition occur?
future problems may occur with the condition?
problems be avoided or alleviated?
the symptoms be managed?
the chances that the condition may occur again in another
in my family may be affected?
reasons for established patients to seek genetic services:
medical problems and related concerns
compliance with and efficacy of recommended management
ongoing, age appropriate education, including new testing
options and management guidelines
other at risk family members
Happens During a Genetic Evaluation?
evaluation generally includes:
of the reason for the referral
the family, medical and pregnancy histories
physical examination looking for unique or unusual physical
characteristics that might offer clues to the underlying
cause of a condition.
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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