Pediatrics – Genetics
Clinical Genetics is a medical specialty that provides diagnostic and management services for children who are likely to have inherited disorders, genetic syndromes, or birth defects. Children with unusual physical characteristics, developmental delays, 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.
Boston Medical Center's Pediatric Specialty Group offers genetic consultations Mondays, Wednesdays, Thursdays and Fridays in the Yawkey Ambulatory Care Center Clinic, 5th Floor.
To schedule an appointment, please call: 617-414-4841. Referrals can be faxed to: 617-414-5741. Appointments are on the 5th floor of the Ambulatory Care Center at 850 Harrison Avenue.
Jodi Hoffman, MD
Dr. Hoffman completed an undergraduate degree at Harvard University and her medical degree at Albert Einstein College of Medicine in NY. She then attended a pediatric residency at Yale New Haven Hospital, CT and completed her medical genetics training at Children's Hospital of Philadelphia. Dr. Hoffman has been practicing as a geneticist since 2004 and enjoys seeing patients of all ages.
Lauren Lichten, MS CGC
Licensed Genetic Counselor
Lauren received a B.A. in molecular biology from Colgate University and subsequently attended the Genetic Counseling Program at Brandeis University. Prior to joining the team at BUMC, Lauren worked as a clinical genetic counselor in maternal fetal medicine and general genetics.
Please allow 1.5 hours for your first visit.
The initial part of the visit will involve speaking with Dr. Hoffman and Ms. Lichten. 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, in most cases, 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) to determine if a specific diagnosis explains your child's features. Dr. Hoffman and Ms. Lichten 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.
Genetic Testing for Autism Spectrum Disorders
The Autism Program at Boston Medical Center and Boston University School of Public Health researchers created a booklet entitled “Genetic Testing for Children with Autism Spectrum Disorder” that aims to improve patient knowledge, awareness, and understanding of genetic testing for Autism Spectrum Disorders (ASD) and to ease access to genetic services. Included in this booklet are sections such “Why is genetic testing recommended for children with ASD?,” “Myths about genetic testing” and “What does a genetics team do?” This information can also be viewed in full booklet format here.
For providers, “Genetic Screening for Children with Autism Spectrum Disorder (ASD): Information for Pediatric Primary Care Providers” addresses common concerns such as how to order genetic tests, interpreting genetic testing results, and a convenient Insurance Coverage Worksheet.
To learn more about specialized genetic services, please visit our Diagnostic Genetic Services page.