Adults with Genetic Disorders
What is an adult genetics clinic?
An adult genetics clinic focuses on the care of patients over 18 years of age. The typical function of these clinics includes:
- Diagnostic evaluation of conditions with a suspected genetic basis in adults
- Providing care for adults with established genetic conditions
- Genetic counseling and testing services for people with a known family history of a genetic condition
- Preconception counseling
- Testing for people considering pregnancy who may be at risk for having a child with a genetic condition
Who should be referred to an adult genetics clinic?
Many genetic disorders are identified and diagnosed at birth or during childhood. When diagnosed individuals reach adulthood, they will receive care at adult genetic clinics. Some individuals are diagnosed with a genetic condition as an adult and will also receive follow-up at adult genetic clinics.
Examples of these types of genetic disorders include:
Inborn Errors of Metabolism
- Phenylketonuria (PKU)
- Urea Cycle Disorders
- Glycogen Storage Diseases
- Lysosomal Storage Disorders
- Down Syndrome
- Turner Syndrome
- Klinefelter Syndrome
Fragile X Syndrome
Other Heritable Conditions and Genetic Syndromes
Other types of genetic disorders may reveal themselves after childhood and adolescence. These are known as adult-onset genetic disorders and must have a genetic evaluation for diagnosis and management.
Examples of adult-onset genetic disorders include:
Heritable Disorders of Connective Tissue
- Marfan syndrome and other aortic aneurysm syndromes
- Ehlers Danlos syndrome (EDS)
- Charcot-Marie-Tooth disease (CMT)
- Huntington’s disease
- Myotonic dystrophy (DM)
- Spinocerebellar ataxia (SCA)
Hereditary Heart Diseases
- Hypertrophic cardiomyopathy (HCM)
- Hereditary Long-QT syndrome (LQTS)
- Hemochromatosis (iron overload)
Other Adult-Onset Heritable Disorders
What to Expect
Adult genetic clinics take patients referred by a physician or are self-referred (depending on insurance coverage). The primary care physician and/or referring sub-specialist should send the medical records before the patient’s appointment. During the genetics visit, the patient may meet with both a genetic counselor and a medical geneticist. For genetic patients requiring special diets, a dietician will be available as well.
A physician will obtain a:
- Detailed family history
- Physical exam
- Laboratory testing (as needed)
- Genetic testing (only if available and appropriate for the patient)
It is the responsibility of the patient to check their insurance coverage and payment for genetic services.
Resources for Patients about Genetic Disorders
National Organization for Rare Disorders (NORD) - Dedicated to helping people with rare diseases and the organizations that serve them. NORD commits to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
FORCE- Facing Our Risk of Cancer Empowered - A nonprofit organization for women whose family history and genetic status puts them at elevated risk for breast and ovarian cancer. There is a support group in Texas for patients with hereditary breast and ovarian cancer.
Genetic Alliance - An international organization of families, professionals, and genetic support organizations that work to improve the quality of life for individuals dealing with a genetic condition. Disease-specific information and resources are available. A genetic counseling helpline is available for more information or to discuss questions and concerns.
March of Dimes - Provides information on birth defects, genetic disorders, and many pregnancy issues. Fact sheets on specific genetic conditions are available.
Gene Tests - A publicly funded site that provides resources on medical genetic information for physicians, other health care providers, and researchers. There are comprehensive reviews on specific genetic syndromes.
Genetics Home Reference - National Institute of Health - Your guide to understanding genetic conditions. You will have access to a full review of most genetic conditions categorized by organ system, genes, and chromosomes. Consumer-friendly information on the effects of genetic variation is also available.
National Society of Genetic Counselors - Find a genetic counselor anywhere in the United States.