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         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:

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

  • Strong personal and/or family history of cancer

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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