Center for Congenital and Inherited Disorders

Regional Genetic Consultation Service

The primary purpose of the Regional Genetic Consultation Service (RGCS) is to provide the structure through which comprehensive genetic health care services will be developed and implemented a an integral component of the state’s health care system. A secondary purpose is to assure the provision of statewide genetics education in order to promote health and prevent disease. Because of rapidly expanding genetics information and technology, the public health community has the responsibility to keep abreast of these issues and to develop policies and programs that assure availability of and access to quality genetic health care services.

The comprehensive genetic health care services include, but are not limited to:

• Case Finding
• Diagnostic Evaluations and Confirmatory Testing
• Medical Management
• Providing Information to Individuals and Families
• Supporting Individual and Family Adjustment
• Case Management
• Education and Consultation

Components of Genetic Evaluation and Counseling

1. Diagnosis: Made through review of medical records and family history, physical examination, and, if needed, cytogenetic testing and DNA analysis.
2. Informative Counseling: Discussion of risk of occurrence or recurrence, severity and progression of the disorder, and possible effect on the family.
3. Supportive Counseling: Provide a family with a realistic view of the situation and offer possible options.
4. Follow-up Counseling: Link the family with resources in their local community so that necessary medical, financial, educational and social needs are met.

Who Can Benefit From Genetic Evaluation and Counseling?

Every year in Iowa an estimated 1,200 children are born with birth defects. Birth defects may be inherited, may result from adverse environmental influences during pregnancy, or may result from a combination of both. Genetic consultation may be helpful for:

1. Any individual with a birth defect or genetic disorder such as those caused by:


1. Chromosome abnormalities (e.g., Down syndrome, Turner syndrome)
2. Single Gene Disorders (e.g., cystic fibrosis, muscular dystrophy, sickle cell disease)
3. Multifactorial Problems (e.g., cleft lip/cleft palate, spina bifida, congenital heart disease)
4. Environmental Factors (e.g., alcohol, anticonvulsants, viruses, high fevers)
2. Family members who have a relative with one of the previously mentioned problems.
3. Individuals belonging to certain ethnic groups who are at risk for being carriers of diseases (e.g., Ashkenazi Jews – Tay-Sachs disease, African Americans – sickle cell disease).
4. Women over the age of 34 who are considering pregnancy or who are pregnant.
5. Couples who have a history of infertility or multiple miscarriages not caused by gynecologic problems.
6. Families who have members with developmental delay or mental retardation.
7. Families who have members with abnormal growth (e.g., short stature, overgrowth, microcephaly).
8. Families who have members with facial dysmorphism.
9. Individuals with abnormal sexual development.
10. Women with a history of prenatal exposure to teratogens (e.g., alcohol, cocaine, anti-seizure drugs).
11. Newborns with ambiguous genitalia.
12. Persons who are concerned about their genetic ancestry.

Referrals

Referrals will be accepted from:

• Physicians
• Nurses
• Social Workers
• Clergy
• Teachers
• Families
• Others

Clinic Charges

Some insurance companies reimburse for genetic consultation. Third party payers will be billed if a family has coverage. Families will be charged based upon their ability to pay, utilizing a sliding-fee scale. Laboratory procedures, if needed, will be billed separately.

History of the RGCS

The RGCS was established in 1976 as a joint program of the Birth Defects Institute of the Iowa Department of Public Health and the University of Iowa Department of Pediatrics. Requests for educational programs and referrals can be made by calling: 1-800-260-2065.

How to Make an Appointment

To find out more about genetic counseling services call toll-free: 1-800-260-2065.