Diagnostic genetics services at Boston Medical Center provide expertise in the diagnosis and evaluation of genetic and developmental disorders for patients, including:

  1. Management of genetic-based conditions in adult, pregnant and pediatric patients
  2. Access to Molecular and Cytogenetic testing
  3. Rapid, direct communication with referring physicians

Below, are the available diagnostic genetic services and corresponding contact information.

Diagnostic Genetic Services Phone Number
Adult Genetics 617.414.4841
Amyloidosis Center 617.358.4750
Hematology 617.414.1024
Prenatal Genetics 617.414.2000
Cancer Genetics 617.638.6428
Pediatric Genetics 617.414.4841
Diagnostic Molecular Genetics Laboratory Services 617.414.3701
Microbiology Molecular Diagnostics 617.414.4737

Adult Genetics

Medical geneticist Jodi Hoffman, MD and the genetics team management services for adults who have inherited disorders, genetic conditions, or birth defects. Patients seen in this clinic often have connective tissue disorders (Marfan syndrome and Ehlers Danlos syndrome, etc) as well as neurofibromatosis types 1 and 2, tuberous sclerosis, Down syndrome, rare cancer syndromes, and others. Consultations are provided in the Yawkey Ambulatory Care Clinic, 6th floor. NOTE: This is the same location as pediatric genetics.

For an appointment call 617.414.4841 or fax 617.414.5741

Contact Us

Specialty Clinics

Pediatrics - Genetics

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. 

Cancer Genetics

In the BMC Cancer Center, genetic counselors provide consultation, risk-assessment and testing for cancer predisposition syndromes for people who have a strong personal or family history of certain types of cancer.

Amyloidosis Center

Boston Medical Center is an international referral center for the diagnosis and treatment of amyloidosis, a rare group of diseases caused by the abnormal accumulation of the protein amyloid in various parts of the body. This can occur as part of a bone marrow plasma cell disorder (AL), as a hereditary form (AF), an age-related form (senile systemic amyloidosis due to ATTR), or secondary to chronic inflammatory or infectious diseases (AA).

Hematology

Patients with blood disorders receive consultation and treatment for a broad range of benign conditions, such as hemoglobinopathies (sickle cell anemia and thalassemia), hemochromatosis, bleeding and thrombotic disorders (von Willebrand's disease and hemophilia), hypercoagulable states, myeloproliferative disorders, myelodysplasia and anemia, and malignancies such as leukemia, lymphoma and myeloma.

Prenatal

The prenatal genetics team provides care for women who are currently pregnant or are planning a pregnancy.

Jewish Genetic Disease Testing

At the Jewish Genetic Disease Screening Program at Boston Medical Center, preconception screening and genetic counseling are offered to those at increased risk for passing certain genetic disorders onto their children.

Our Team

Geneticists

Jodi D Hoffman, MD

Chief, Section of Genetics, Department of Pediatric Genetics
Associate Professor, Boston University School of Medicine

Pediatric genetic syndromes, Jewish genetic diseases, Adult genetic conditions, Malformation syndromes, Cancer syndromes

Clinical Genetics - Licensed Genetic Counselors

Philip D. Connors, MS, CGC
Assistant Professor, Department of Obstetrics and Gynecology, BUSM

617.414.2000

Special Interests: Prenatal Genetics, Cancer Genetics, Genetic Counseling

Lillian Sosa, MS, CGC
Assistant Professor, Department of Obstetrics and Gynecology, BUSM

617.414.2000

Special Interests: Prenatal Genetics, Genetic Counseling

Claire Hacking, MS

617.638.6428

Special Interests: Cancer Genetics, Genetic Counseling

Tamsen Brown, MS, CGC

617.638.6428

Special Interests: Cancer Genetics, Genetic Counseling

Additional Resources

Diagnostic Genetic Services Information

Residency and Fellowship Information

Genetic Counseling Training & Education

Boston University School of Medicine offers a Master of Science degree in Genetic Counseling. For more information about the curriculum, faculty, research, and graduate experience, please visit our website

For additional questions, please contact Kathleen Berentsen Swenson at 617.638.7170 or email: [email protected].