Definition of Services

Prenatal

Prenatal genetic counselors are involved with women either during their pregnancy or preconceptionally. Examples of referrals include individuals/couples with:

• History of infertility, miscarriages or stillbirths
• Age of 35 years or older at delivery
• Exposure to medication, drugs, chemicals, radiation during pregnancy (referred to as teratology)
• Abnormal serum screen for neural tube defects and chromosome abnormalities
• Abnormal ultrasound findings
• Previous child with birth defect or multiple congenital anomalies
• Previous child with chromosome abnormality or other genetic disorder
• Specific ethnicity that may have a higher incidence of certain disorders, such as Tay Sachs disease, Sickle Cell anemia, Thalassemias

Pediatric Genetics

Pediatric genetic counselors are involved with newborns, infants, children and their families. Examples of referrals include individuals with:

• Birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart defects, spina bifida)
• Mental retardation of unknown cause, learning disabilities, autism
• Sensory impairments (vision, hearing)
• Metabolic disorders (PKU, galactosemia)
• Known/Suspected genetic disorders (such as Down syndrome, Cystic Fibrosis, Muscular Dystrophy)

Adult

Genetic counselors can also become involved with adults that are diagnosed with genetic conditions that begin to show signs or symptoms in adulthood. Many genetic conditions have varying ages of onset, ranging from an infantile form to an adult form. Adult-onset disorders may overlap with cancer and neurogenetics and include: Spinal Muscular Atrophy, Myotonic dystrophy, Huntington disease and breast cancer.

Cancer

Cancer genetic counselors are involved with individuals with cancer or with a family history of cancer. Cancers may or may not be inherited. Examples of cancers that may have a genetic or inheritable component are:

• Breast cancer
• Ovarian cancer
• Colon cancer
• Medullary thyroid carcinoma
• Retinoblastoma
• Wilms tumor

DNA Diagnostic Laboratories

With the advent of the ability to test for many genetic conditions using a simple blood specimen or cheek cells, there has been rapid growth of DNA Diagnostic Labs. Genetic counselors in this setting are a liaison between the referring physician or genetic counselor and the laboratory doing the testing.

Neurogenetics

Neurogenetics counselors are involved with individuals with neurological and/or neuromuscular disorders. These conditions affect the central and peripheral nervous systems and may lead to muscle dysfunction such as uncontrolled movement, weakness, paralysis or atrophy. Examples of neuromuscular disorders include:

• Huntington disease
• Charcot-Marie-Tooth disease
• Lou Gehrigs disease
• Spinal muscular atrophy
• Hereditary ataxias.

Preimplantation Genetics

Preimplantation genetics involves using artificial reproductive technology. This involves joining the egg and sperm by in vitro fertilization and testing the embryo for a specific condition before it is implanted into the mother. This technique is currently being done for disorders such as Cystic Fibrosis and Muscular Dystrophy.

Research Issues

Genetic counselors may be involved with research projects involving individuals with undiagnosed genetic conditions or other conditions that are thought to have a genetic component. These genetic counselors are involved in coordinating patient involvement in research studies, as well as writing grants to obtain research funds. Advocacy for informed consent and protecting the patients' rights are important goals for genetic counselors.

Specialty Disease

Specialty Disease genetic counselors often work with individuals with a specific disease or group of diseases. Often, the patients and families are seen in a clinic setting with multiple specialists. For example, Down syndrome clinic might include specialists from genetics, cardiology, dentistry, physical therapy, and speech therapy. Other conditions that often have specialty clinics are:

• Cleft Lip & Palate
• Sickle cell anemia
• Hemophilia
• Neurofibromatosis
• Skeletal dysplasias.