Treatments and Services

• Genetic counseling
• Genetic testing
• Coordination of care for people with genetic conditions 

Please allow an hour and a half for your first visit.

The first part of the visit will involve speaking with Dr. Hoffman or a member of her team.  They will ask questions about your medical history (specific conditions or history of surgery) and developmental milestones/performance in school. They will also ask questions about your family history.

It is useful to bring any relevant information that you have been able to collect from family members, as well as records from any genetic tests performed 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 collecting a history, Dr. Hoffman will perform a physical examination. Some genetic conditions can involve very hard-to-see characteristics, and a thorough physical examination can sometimes provide clues to a diagnosis. Sometimes it is useful to do a genetic test to figure out if a specific diagnosis explains your issues or family condition.  Our team will discuss the benefits and risks of any further exams or genetic tests at your appointment.  

Genetic tests may include:

• Blood tests
• Saliva sample
• Cheek swab

Genetic testing is very expensive, and we sometimes need to get insurance preauthorization before performing a genetic test.

If a genetic diagnosis is made, Dr. Hoffman will provide information to help manage your medical care. If a genetic diagnosis is not made, it may be helpful to have a follow-up visit with Dr. Hoffman to consider further testing over time. The field of genetics is growing rapidlyrapidly, and new advances in diagnosis and available tests occur on a regular basis. Follow-up visits typically last less than an hour.