Genetics

A pediatric genetics evaluation typically consists of medical, developmental, and family health history review in conjunction with a physical exam. Our providers then recommend appropriate genetic testing or other evaluations. There are many reasons why a child may be evaluated by genetics. A few of the more common reasons to be seen for pediatric genetics evaluation include:

• Birth defects
• Abnormal newborn screen results
• Seizures
• Intellectual disability/developmental delay/autism
• Growth concerns
• Hearing loss

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An adult genetics evaluation typically consists of a medical and family health history review in conjunction with a physical exam. Our providers will then recommend appropriate genetic testing, referrals, or non-genetics studies to assist in the evaluation for a condition. There are many reasons why an adult may be evaluated by genetics. A few of the more common reasons to be seen for adult genetics evaluation include:

• Neuromuscular diseases
• Intellectual disability
• Cardiovascular disorders (e.g., Marfan syndrome, cardiomyopathy)
• Hearing loss
• Chronic pancreatitis
• Personal or family history of cancer (see Hereditary Cancer section below)

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Individuals who are pregnant or planning a pregnancy may wish to meet with a genetic counselor to discuss available screening and testing options, review the family health history, and address reproductive risks. A few of the more common reasons to be seen for reproductive genetics evaluation include:

• Having a family history of a genetic condition, such as cystic fibrosis
• Having a family history of a congenital anomaly, such as a heart defect or cleft lip and palate
• Interest in carrier screening to assess for genetic risks which may run silently in families
• Having an atypical finding on fetal ultrasound
• Interest in prenatal screening or testing
• Having an atypical result on prenatal screening or testing
• Having a history of infertility or pregnancy losses (miscarriages or stillbirths)

If there is an increased risk identified during a pregnancy, post-natal pediatric evaluation is available through our office to provide continuity of care for families.

If you have questions about whether a certain medication or other exposure may harm your pregnancy, you can find more information and speak with a teratogen counselor at https://www.mothertobaby.org/.

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While most cancer occur by chance, some cancers develop because of a hereditary – or inherited – genetic predisposition. Our genetics team works to help evaluate the probability of a hereditary susceptibility to cancer in your family and coordinate testing for those that wish to pursue this option.

Anyone with questions about their potential risk of developing cancer may benefit from genetic counseling. A few of the more common reasons to be seen for cancer genetics evaluation include having one or more of the following:

• More than one family member with the same or related types of cancer
• Personal and/or family history of early-onset cancer (< 50 years)
• Personal and/or family history of rare cancers (such as male breast, ovarian, or pancreatic cancer)
• Personal and/or family history of an individual with more than one cancer
• A close relative found to have a mutation in a cancer gene

If you are interested in a personalized cancer risk assessment and/or having genetic testing for a particular gene, you should have genetic counseling first to discuss possible test results as well as the benefits, risks, and limitations of genetic testing. We will also discuss cost, insurance coverage, and concerns about genetic discrimination. The American Society of Clinical Oncology recommends that genetic testing only be done in the setting of pre- and post-test counseling.

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