
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.)
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Newborns, Children or Adults with:
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Birth defect(s)
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Abnormal newborn screening result
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Mental retardation
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Learning disabilities
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Developmental delay
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Autism or autistic features
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Speech delay
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Growth failure
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Failure to thrive
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Neuropsychiatric disorders
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Hearing impairment
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Visual impairment
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Unusual physical features
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Adolescents or Adults with:
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Reproductive health problems (examples: history of infertility / multiple miscarriages / stillbirth, failure to develop at puberty, failure to menstruate, etc.)
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Strong personal and/or family history of cancer
What is the purpose of a genetics evaluation?
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To establish or confirm a specific diagnosis, if possible
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To complete testing that might help confirm or rule out a specific disorder or group of disorders.
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To assess recurrence risks for family members (risks for future children or other relatives)
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To provide individualized, education and support
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To make referrals to appropriate specialists, if indicated
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To outline and provide future medical management and follow up
Questions families often have during a genetic consultation:
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Why did the condition occur?
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What future problems may occur with the condition?
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Can these problems be avoided or alleviated?
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How can the symptoms be managed?
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What are the chances that the condition may occur again in another child?
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Who else in my family may be affected?
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Common reasons for established patients to seek genetic services:
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Assess new medical problems and related concerns
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Assess compliance with and efficacy of recommended management
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Provide ongoing, age appropriate education, including new testing options and management guidelines
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Evaluate other at risk family members
What Happens During a Genetic Evaluation?
A genetics evaluation generally includes:
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Discussion of the reason for the referral
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Review of the family, medical and pregnancy histories
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A detailed physical examination looking for unique or unusual physical characteristics that might offer clues to the underlying cause of a condition.
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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.
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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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