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:
Reproductive health problems (examples: history of infertility / multiple miscarriages / stillbirth, failure to develop at puberty, failure to menstruate, etc.)
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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