Regional Genetics Consultation Clinics (RGCS)

Services for the Regional Genetics Consultation Clinics are provided through outreach clinics across the state by the Division of Medical Genetics and Genomics at the University of Iowa Stead Family Children’s Hospital.

The Regional Genetics Consultation Services program is authorized by Iowa Administrative Code 641 IAC 4.5, which states:

  • 641—4.5(136A) Regional genetic consultation service (RGCS). This program provides comprehensive genetic and genomic services statewide through outreach clinics.
  • 4.5(1) Provision of comprehensive genetic and genomic services. The department shall contract with the division of medical genetics within the department of pediatrics at the University of Iowa to provide genetic and genomic health care and education outreach services for individuals and families within Iowa. The contractor shall provide annual reports to the department as specified in the contract.
  • 4.5(2) Clinical services. The services provided may include, but are not limited to: diagnostic evaluations, confirmatory testing, consultation by board-certified geneticists, genetic counseling, medical case management and referral to appropriate agencies.
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What is the Regional Genetics Consultation Clinics?

The purpose of the Regional Genetics Consultation service is to provide genetic health care services and education for patients and families within the state of Iowa through statewide outreach services; in order to promote health, prevent disease, reduce the incidence of congenital disorders and improve outcomes for those with birth defects and genetic disorders.

  • Approximately 37,000 babies are born in Iowa every year. About 1500, or approximately 4%, are born with a congenital or inherited disorder.
  • In addition, there are many chronic diseases, cancers, and cognitive disorders that are known to have a genetic component.
  • With early diagnosis and medical treatment, complications from serious conditions, such as intellectual disabilities or even death, may be prevented and disabilities may be eliminated or reduced.
  • Genetic counseling and case management are an integral part of the genetics services provided, which helps to ensure the best possible outcome for patients and families.

The Regional Genetic Consultation Service assures that genetic specialists are available to Iowans to provide medical consultation and genetic counseling. The Regional Genetics Consultation Service provides services through a number of subspecialty clinics.

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Clinic Definitions

Clinic nameDefinition & purpose
General GeneticsThe general genetics clinic provides diagnostic evaluation, testing, counseling, and ongoing management for patients with known or suspected genetic conditions. Common reasons to be seen in this clinic include birth defects, learning or behavior concerns, problems with growth, family history of known genetic conditions, or concerns about a specific genetic condition.

 

Connective Tissue Disorders Clinic

The connective tissue disorders clinic provides diagnostic evaluation, testing, counseling, and ongoing management for children and adults with disorders affecting structural connective tissues. These include disorders of the skin, ligaments, tendons, and blood vessels. An individual may be referred to this clinic for diagnosis or ongoing management of the following conditions (as examples): Classic or vascular Ehlers Danlos Syndrome, Marfan syndrome, Loeys-Dietz syndrome, or Thoracic aortic aneurysm disorder.

 

Neurofibromatosis Clinic

The Neurofibromatosis (NF) clinic is a nationally affiliated member of the NF Clinic Network through the Children’s Tumor Foundation. The clinic provides diagnosis and medical management to patients of all ages as well as access to a multidisciplinary care team. Primary conditions include neurofibromatosis types 1 and 2 (NF1 and NF2) and Schwannomatosis.

 

 

Metabolic Clinic

The metabolic genetics clinic provides diagnosis, education, medical treatment, management, and nutritional support for children and adults born with inherited disorders of metabolism. These conditions affect how the body makes or uses energy from foods. Common reasons for evaluation in this clinic include abnormal newborn screening, family history of a metabolic condition, poor growth or development, loss of skills, and unexplained changes to health status.

 

 

Cancer Predisposition Clinic

The cancer predisposition clinic provides diagnosis and management recommendations for adult and pediatric patients affected with or at-risk for genetic cancer predisposition syndromes. Common diagnoses include APC-associated polyposis syndrome, Beckwith-Wiedemann syndrome, PTEN-hamartoma tumor syndrome, ataxia telangiectasia, Birt-Hogg-Dube syndrome, von Hippel-Lindau syndrome (VHL), Juvenile Polyposis syndrome, SDH-related paraganglioma and pheochromocytoma syndromes to name a few. This clinic is nationally recognized by the VHL alliance.
Tuberous Sclerosis Complex ClinicThe multidisciplinary Tuberous Sclerosis Complex (TSC) clinic provides comprehensive care to patients with TSC. During a typical clinic visit, patients see a geneticist, genetic counselor, pediatric neurologist, and pediatric nephrologist.

 

Lysosomal Storage Disease Clinic

The Lysosomal Disorders program evaluates children and adults with suspected or known lysosomal disorders such as Fabry Disease, Gaucher Disease, metachromatic leukodystrophy, mucopolysaccharidoses, and Niemann-Pick disease. These multisystem disorders may be diagnosed early in life (including via newborn screening) or much later in adulthood. In addition to offering regular clinical care (including management of enzyme replacement and other therapeutic options), the program participates in several clinical trials offering novel experimental therapies, including gene therapies, for these disorders.

The Regional Genetics Consultation Service is supported in part by funds appropriated by the State of Iowa. Regional Genetics Consultation Clinics Annual Report

For more information, or to schedule an appointment, visit: Regional Genetics Consultation Clinics

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