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Medical Genetics Evaluation

by Brock,Pamela Lyn — last modified Mar 08, 2011 02:09 PM

The goal of a pediatric or adult genetic evaluation is to diagnose or treat a specific genetic condition.  Patients will often meet with a geneticist and a genetic counselor (and in some situations a metabolic nutritionist) to discuss the reason for referral and to obtain detailed medical and family histories.  The geneticist will perform a careful physical exam to assess for any features of a recognizable genetic syndrome.  Based on the information gathered at the appointment, the patient/family is provided with information regarding the suspected diagnosis or the possible  diagnoses, information about the available genetic testing, and recommendations for management and preventive care.  Recommendation for additional screening (ie, MRIs or X-rays) or other specialist consultations may be made.  Some diagnoses require long term follow-up and/or specific treatments.  Even if a diagnosis is not established, patients may be followed over time to monitor their medical status and determine if further testing is necessary.

Pediatric Genetic Evaluations

Adult Genetic Evaluations

Pediatric Genetic Evaluations

Children are evaluated for a variety of reasons, including birth defects, developmental delay, failure to thrive, or a suspected genetic condition. We also provide long-term follow-up for children with known or suspected genetic conditions.

Individuals who can benefit from pediatric genetics services include those individuals with:

  • Birth defects

  • Developmental delay or mental retardation

  • Short stature/failure to thrive

  • Metabolic or lysosomal storage disorders

  • Connective tissue disorders

  • Neurofibromatosis

  • Craniofacial abnormalities

  • Deafness/hearing loss

  • Abnormal newborn screening results 

What to expect during a pediatric genetic evaluation:

  • Discussion of the reason for your child’s referral

  • Extended discussion of your child’s medical history, from before birth through infancy and childhood

  • A detailed family history including information about relatives with learning problems, mental retardation, birth defects and recurrent miscarriages, as well as the family’s ethnic background

  • A complete medical exam by a geneticist, a physician specifically trained in diagnosing genetic conditions

  • A photograph will most likely be taken of your child

  • Additional testing (such as blood work or x-rays) and possible referral to other specialists

  • Information regarding the likelihood of a genetic condition and information regarding a specific condition if a diagnosis is made (not all children will receive a diagnosis on their first visit)

  • Discussion of prognosis, treatment and/or screening recommendations

  • Discussion of the inheritance of the condition and the chance of another child could be affected (if diagnosis is made)

  • Discussion of the impact this condition has or may have on an individual or family

  • Provision of referrals and resource information such as support groups or community organizations, patient literature or website addresses

  • Follow-up by letter, phone call, and regular visits to the clinic (if necessary)

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Adult Genetic Evaluations

Medical genetics evaluations are provided to adults with concerns regarding various genetic conditions, including connective tissue disorders, neurological conditions, metabolic disorders, and lysosomal storage disorders.

Individuals who can benefit from adult genetics services include those with: 

  • A personal or family history of a connective tissue disorder, such as Marfan syndrome.
  • A diagnosis of or concerns regarding a possible metabolic condition.
  • Other known syndromes such as NF (Neurofibromatosis), TSC (Tuberous sclerosis complex), etc.

What to expect during an adult genetic services appointment: 

  • A photograph may be taken of you
  • Discussion of the reason for your referral
  • Extended discussion of your medical history
  • A detailed family history including information about relatives with learning problems, mental retardation, birth defects and recurrent miscarriages, as well as the family’s ethnic background
  • A complete medical exam by geneticist, (a physician specifically trained in diagnosing genetic conditions), depending on reason for referral
  • Information regarding prognosis, possible treatment and other recommendations; not everyone will receive a diagnosis on their first visit
  • Discussion of the inheritance of the condition and the chance that a child or other family member could be affected (if a diagnosis is made)
  • Discussion of the impact this condition has or may have o the individual or family
  • Provision of referrals and resource information such as support groups or community organizations, patient literature or addresses of websites
  • Followed up by letter, phone call, and regular visits to the clinic

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