Medical geneticist Jodi Hoffman, MD and the genetic team provide diagnostic and management services for children who are likely to have inherited disorders, genetic syndromes, or birth defects. Children with unusual physical characteristics, developmental days, autism, or atypical growth are often referred for a genetics evaluation to determine if a genetic condition could explain the constellation of features. A diagnosis may provide information important for future health management as well as connections with support groups, research opportunities, and other families who have children with related conditions. It is important to remember that many children referred to pediatric genetics do not end up having a genetic condition.
Please call to schedule appointments. Referrals can be faxed to 617-638-6756.
Prepare for your visit: Introduction to Genetic Testing Brochures
Hereditary Hemorrhagic Telangiectasia Program (HHT)
What to Expect at Your Visit
Please allow 1.5 hours for your first visit.
The initial part of the visit will involve speaking with Dr. Hoffman or a member of her team. They will ask questions about your pregnancy, your child's birth history, medical history (specific conditions or history of surgery) and developmental milestones/performance in school. They will also ask questions about your child's family history. It is useful to bring any history information that you have been able to collect from family members as well as records from any genetic tests or medical procedures performed on your child outside Boston Medical Center. Sometimes people are worried that they may not be able to answer all of the questions at the genetics visit. We do not expect you to have the answer to every question and whatever information you have is typically helpful.
After the history is collected, Dr. Hoffman will perform a physical examination. Some genetic conditions can involve very subtle characteristics and a thorough physical examination can sometimes provide clues to a diagnosis. Sometimes it is useful to do a genetic test (usually a blood test; sometimes a saliva sample or cheek swab) to determine if a specific diagnosis explains your child's features. Our team will discuss the advantages and disadvantages of any further examinations or genetic tests at your appointment. Genetic testing is very expensive and it is sometimes necessary to get insurance preauthorization before performing a genetic test.
If a genetic diagnosis is made, Dr. Hoffman will see your child on a regular basis to help manage your child's medical care. If a genetic diagnosis is not made, it is still often helpful to have follow-up visits with Dr. Hoffman. The field of genetics is growing rapidly and new advances in diagnosis and available tests occur on a regular basis. Follow-up visits typically last less than an hour.