Our Genetic Evaluation, Testing and Counseling team is the most experienced and highly trained in Orange County. Our specialists help people who want to learn their genetic predisposition for medical conditions, including certain cancers and other diseases, or whether they may be carriers for inherited conditions that could affect their children.
Counseling
We evaluate individuals with genetic disorders, birth defects and cancer, and counsel them and their families about what their diagnoses may mean for their children and other relatives.
Our UCI Health specialists are part of Orange County's only university medical center, giving them access to the latest technologies and the most recent findings in genetic medicine.They also help patients at the Chao Family Comprehensive Cancer Center, the only National Cancer Institute-designated comprehensive cancer center in Orange County.
Expertise
Our team of genetic counselors, medical geneticists and nurses are dedicated to providing a continuum of care to our patients. Whether assessing them for their risk of cancer or other conditions, or counseling them as they contemplate or embark on a pregnancy, we follow our patients throughout their experience, emphasizing close communication and compassionate care.
- Our medical geneticists are physicians are certified by the American Board of Medical Genetics. They have specialized training in the diagnosis and medical management of genetic conditions, as well as training in another specialty such as pediatrics or internal medicine.
- Our genetic counselors are certified by the American Board of Genetic Counseling and licensed by the state of California.
Most cancers do not run in families, but a small percentage of people develop cancer due to a hereditary susceptibility. UCI Health cancer genetic specialists can help you assess your hereditary risk for cancer.
A typical consultation involves a detailed review of personal and family history, discussion about genetic testing options, coordination of genetic testing and personalized cancer screening and risk-reducing options.
A genetic counselor conducts a detailed review of personal and family history, and can often provide estimates for an individual’s personal risk of cancer, as well as the likelihood that a hereditary cancer syndrome runs in the family.
The counselor also may discuss genetic testing options, such as a blood or saliva test, to further assess a person's risk of a hereditary cancer.
Common reasons a person would be referred for genetic cancer risk assessment include:
- A diagnosis of cancer at an unusually young age (typically under age 50)
- A diagnosis of two or more primary cancers
- A diagnosis of rare or bilateral tumors
- A finding of multiple gastrointestinal polyps
- A striking family history of cancer in two or more close relatives
- Relatives whose genetic testing results indicate an inherited predisposition to cancer
- Concern about the risk of cancer because of family history
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Our physicians are experienced in diagnosing patients with rare genetic disorders. A typical evaluation by a medical geneticist involves a thorough physical examination, a review of medical records and a detailed assessment of an individual’s family history.
Specialized testing (a blood or saliva test, for example) also may be recommended.
Once a diagnosis is confirmed, our physicians follow our patients over time and help manage many aspects of their care.
We diagnose many birth defects and genetic conditions. Some of the more common genetic conditions are:
- Chromosome abnormalities
- Fabry disease
- Hereditary muscular dystrophy
- Mitochondrial disorders
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- Metabolic disorders
- Neurofibromatosis
- Skeletal dysplasia
- Unexplained intellectual disabilities
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If you and your partner are thinking about having a child, the UCI Health Genetics Evaluation, Testing and Counseling team can help assess the potential for abnormalities before conception. We also can help you evaluate the health of your fetus during pregnancy.
Our certified genetic counselors begin by working with you to develop a detailed family history, followed in some cases by specialized testing.
This can include analysis of blood, amniotic fluid or tissue samples to determine the biochemical, chromosomal or genetic markers that can designate the presence or absence of specific conditions.
We use the latest in genetic technologies, which can provide information about the fetus as early as the first trimester of pregnancy.
Risk factors
Along with genetics, the environment in which a fetus develops plays a critical role in whether a baby is born with physical or mental abnormalities. Statistically, a number of common factors place a baby at greater risk, including:
- A family history of birth defects, intellectual impairments or genetic disorders
- A mother who is age 35 or older at delivery
- An abnormal maternal screening result during pregnancy
- Parents with a history of miscarriages or infertility
- A mother with a chronic disease, such as diabetes or seizures
- Exposure to certain medications or illnesses in pregnancy
There also are hundreds of disorders that may be diagnosed in fetuses, including:
- Cystic fibrosis
- Chromosome abnormalities
- Down syndrome
- Inherited anemia (sickle cell anemia, Fanconi anemia, thalassemia)
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- Major heart defects
- Neuromuscular disorders (muscular dystrophies, spinal muscular atrophy)
- Spina bifida
- Tay-Sachs disease
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Screening tests
UCI Health offers a variety of prenatal tests to determine genetic and physical development. Many involve DNA screening; others examine the baby’s physical structure. They include:
This diagnostic tool uses sound waves to produce an image of the infant. Early in pregnancy (11-14 weeks), the measurement of the back of the fetal neck (nuchal translucency) can be used to determine the risk for abnormalities such as Down syndrome. Later in pregnancy it can help detect such structural defects as spina bifida and cleft lip.
This ultrasound test examines the structure and function of the developing baby’s heart at 20 to 22 weeks into the pregnancy.
The newest non-invasive prenatal screening (NIPT) method uses the mother's blood to detect the presence of several chromosomal abnormalities, including Down syndrome and trisomy 18, with a detection rate of more than 98 percent.
Other forms of maternal blood screening look for the presence of spina bifida, a condition in which spinal vertebrae fail to form completely around the spinal cord, as well as fetal abdominal openings.
Usually done between weeks 16 and 20 of pregnancy, amniocentesis involves a thin needle used to extract a small sample of fluid from the mother’s uterus. The sample, which contains skin cells that are normally shed by the fetus into the amniotic fluid, is analyzed for chromosome and other abnormalities.
- Chorionic villus sampling (CVS)
This test, performed between weeks 11 and 13 of pregnancy, also involves retrieval of a small sample of the placenta, which is analyzed for chromosome and other abnormalities.
