Clinical Genetic Services

Genetic Evaluation
Genetic Counseling
Newborn Screening Follow-Up Program

 

Genetic Evaluation

 A board certified clinical geneticist provides a comprehensive genetic evaluation that includes a detailed medical and family history, physical examination, genetic testing (if indicated) and genetic counseling.

The following patients may benefit from a referral.

• Known or suspected diagnosis of a genetic syndrome or disease
• Unexplained developmental delay
• Congenital anomalies
• Dysmorphic features
• Adult onset genetic disorders

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Genetic Counseling

 Genetic counseling is the process of helping people understand the genetic, medical, psychological and familial implications of a condition. During a genetic counseling appointment, family and medical histories are collected and interpreted to assess the chance that a condition will occur or reoccur. Inheritance, genetic testing options and management issues are discussed. Support and resources are provided to assist the patient and family.

The following patients may benefit from genetic counseling.

• Family history of a hereditary or chromosomal condition.
  • Cystic fibrosis
  • Hereditary hemochromatosis
  • Thrombophilia
  • Breast and ovarian cancer
  • Chromosomal translocation
  • Huntington disease
  • Colorectal and uterine cancer
• Ethnic background that is associated with increased risk for certain genetic conditions.
  • Hemoglobinopathies in individuals of Mediterranean, African or Asian ancestry
  • Tay Sachs, Gaucher, familial dysautomnia in individuals of Ashkenazi Jewish or French Canadian ancestry
• History of recurrent miscarriages
• Pregnant women (or women considering pregnancy) 35 years of age and older
• Abnormal result on maternal serum biochemical screening

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Newborn Screening Follow-Up Program

When the Tennessee State Laboratory Newborn Screening Program identifies an infant in east Tennessee with a positive screen for one of over 40 metabolic and hemoglobinopathy disorders, they notify the child’s primary health care provider and the UT Genetic Center. The UTGC’s newborn screening coordinator contacts the primary care provider and the family to explain the meaning of the positive screen.

The UTGC’s interdisciplinary follow-up team is composed of a clinical geneticist, a licensened dietitian/nutritionist, biochemical geneticist, genetic counselor and newborn screening coordinator. This team works in consultation with the primary care physician and the family, and when necessary other specialists, to obtain a diagnosis. Counseling and subsequent treatment is provided when a genetic disorder is confirmed.

The UTGC has primary responsibility for the follow-up for disorders such as sickle cell disease, PKU (phenylketonuria), Galactosemia, Biotinidase deficiency, MCAD (medium chain acylCoA dehydrogenase deficiency), fatty acid metabolism disorders, and amino acid metabolism disorders. Follow-up for endocrine disorders such as hypothyroidism or congenital adrenal hyperplasia and for sickle cell disease is coordinated by endocrine and hematology specialists.

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