The Genetic Counseling Clinic offers information and guidance to patients and families who have birth defects or genetic conditions. The clinic can also help patients and families who may be at risk for conditions that can be passed down in families (inherited conditions).
Our genetic counselors talk with families about the ways their family health history and ethnic background may affect their health risks. We help families understand the causes of genetic conditions, how they are passed down (inheritance pattern) and how other family members might be affected.
We explain genetic tests and guide families as they decide about having tests. We can review family planning options. To help support you, we can talk with you about the emotions you might feel when you get test results or a new genetic diagnosis. We can also connect you with resources to help you manage a genetic condition.
Our genetic counselors have all earned a master’s degree in medical genetics and counseling skills. They must pass a certification exam by the American Board of Genetic Counseling. Our genetic counselors often work with families who are seeing doctors in our Medical Genetics Clinic for a diagnosis.
Conditions We Discuss
Our genetic counselors work with families who have many types of genetic conditions, including the following.
22q11.2 deletion syndrome happens in children who are missing a small piece of chromosome 22. This missing piece is called a "deletion." 22q11.2 deletion syndrome is linked with many different health issues, but most children with the syndrome will have only some of these issues. The most common issues include cleft palate, heart defects, facial differences, learning problems and speech and feeding problems. 22q11.2 deletion syndrome can be inherited from a parent. It can also be a new genetic change that happens for the first time in a child. Read more.
Cystic fibrosis (CF) is a genetic condition that affects the way the body makes secretions, like mucus and sweat. It can lead to blocked airways, lung infections and problems with other organs, like the pancreas and liver. Children with CF inherited two altered genes — one from each parent. But in most cases neither parent has CF.
Down syndrome is a common genetic condition that is caused by an extra copy of chromosome 21. The extra genetic material causes problems with physical and mental development. Children with Down syndrome may have a range of health problems.
Fragile X syndrome is a genetic condition that is caused by an altered gene on the X chromosome. The altered gene leads to problems with how the brain develops and functions. Some children with Fragile X syndrome have learning disabilities, while others have more significant intellectual disabilities. Read more.
Approximately half of childhood hearing loss has a genetic cause. Genes affect the way the outer ear, ear canal, middle ear and inner ear form, and how the nerves carry signals from the ear to the brain. The kind of hearing loss and how serious it is depends on the genetic cause. Read more about hearing impairment and hearing loss.
Muscular dystrophies are a group of genetic conditions that result in muscle weakness. Some children with muscular dystrophies are born with muscle weakness. Others develop weakness over time. Muscular dystrophies are caused by altered genes and can be inherited.
Turner syndrome occurs when one of a girl's two X chromosomes is missing or is not complete. Girls with Turner syndrome tend to be shorter than normal. They may have learning disabilities, and they may have other health problems, like differences in the heart and kidneys. Read about our Turner Syndrome Clinic.
Chromosomal microarray analysis (CMA) can tell whether a chromosome has certain missing or extra pieces. Some genetic conditions can be diagnosed based on results of this test. Sometimes the test detects a chromosome difference, but it's not clear whether this will cause any health problems. Results like this may be called "results of uncertain clinical significance." Genetic counselors work with families to help them understand what their results mean.
Services We Provide
If someone in your family has been diagnosed with a genetic problem or birth defect, you may want to know about how it affects or might affect your children. Our genetic counselors can help. they can talk with you about:
- Your genetic test results
- What causes the problem or defect, how the condition is likely to affect your child, and how the condition is passed through families (the inheritance pattern)
- Reasons to offer genetic testing to other family members who may be at risk for the condition, and how to coordinate testing
- Where to find trusted information about the condition
- Where to find resources for support
If you have a family history of a genetic condition, our genetic counselors can assess your family history and help arrange appropriate testing.
Sometimes genetic tests detect a change in a chromosome, but it’s not clear whether the change will cause any health problems. Results like this may be called “variants of uncertain significance” or “results of uncertain clinical significance.” Our genetic counselors can talk with you about an uncertain result. They can also coordinate genetic testing for other family members if those results might help to clear up the meaning of the uncertain result.
If your family has a history of cancer, our genetic counselors can help you find out more about whether increased cancer risk is being passed down in your family’s genes. To do this, they will review your family history and arrange for tests that may help you know more about the role of genetics in cancer for your family. If you already know your family is at increased genetic risk, our genetic counselors can arrange testing for individual family members to see whether they carry the gene that raises risk. Sometimes patients need a physical exam to help assess their risk. If your family needs this, we will refer you to our Medical Genetics Clinic.