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)
- Galactosemia
- Urea Cycle Disorders
- Glycogen Storage Diseases
- Lysosomal Storage Disorders
Chromosome Disorders
- Down Syndrome
- Turner Syndrome
- Klinefelter Syndrome
Skeletal Dysplasia
Neurofibromatosis
Prader-Willi 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)
Neurogenetic Disorders
- 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)
Metabolic Disorders
- Hemochromatosis (iron overload)
- Porphyria
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.
Information on specific genetic syndromes.
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.