Genetic counselors are healthcare professionals with specific education, training, and experience in accurately interpreting the complexities of genetics in human health and disease. Part of their role includes helping patients and their families understand the role genetics may play in the risk, prevention, and development of a disease. Our genetic counselors often work with patients who are seeing healthcare providers in our Medical Genetics Clinic or other specialties in the hospital.
The Genetic Counseling Clinic is staffed by a licensed genetic counselor. This clinic offers information, guidance, and support to patients and families who are at risk for or have been diagnosed with a genetic condition(s). Our genetic counselors talk with families about the ways their child’s and/or family’s health history may affect their health risks. We help families understand the causes of genetic conditions, how they are passed down (or inherited) and how other family members may be at risk.
We explain genetic tests and guide families as they decide what options are best for their child and family. 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.
Conditions We Discuss
Our genetic counselors work with families who have many types of genetic conditions. A few examples are highlighted below.
Down syndrome is a common genetic condition that is caused by having an extra copy of chromosome 21. The extra genetic material causes differences with physical and cognitive development. Children with Down syndrome may have a range of health complications, including congenital heart defects, obstructive sleep apnea and ear infections/hearing loss.
Fragile X syndrome is a genetic condition that is caused by an altered gene on the X chromosome. The altered gene leads to differences with how the brain develops and functions. Some children with Fragile X syndrome have mild learning disabilities, while others have more significant intellectual challenges. Other health complications include developmental delay, autism spectrum disorder and cardiac anomalies.
Chromosomal microarray analysis (CMA) can determine 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
There are thousands of genetic tests available to determine if an individual may have a genetic condition. Our genetic counseling team partners with your referring care team to ensure that the most appropriate genetic test is selected for your child based on their needs and symptoms. Our genetic counseling team also partners with your family to ensure you are supported through the genetic testing process and beyond. We will also provide you with information to help you decide if you want to proceed with testing. During this visit, our genetic counselors may talk with you about:
- Your family health history
- Details of the testing which is being recommended, which may include discussion of specific genetic conditions, or groups of conditions, which are being tested
- Different types of test results which may be obtained
- Sample requirements
- Insurance coverage
If your child has been diagnosed with a genetic condition or birth defect, you may want to know how it affects or might affect your children. Our genetic counselors can help. They can talk with you about:
- 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
Sometimes genetic tests detect a genetic change, but it’s not clear whether the change will cause any health risks. 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 you have a family history of a genetic condition, our genetic counselors can assess your family history and help arrange appropriate testing if it is determined that your child is at risk.