Diagnostic Genetic Services and Genetic Counseling

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 and pediatric patients
  2. Access to Molecular and Cytogenetic testing
  3. Rapid, direct communication with referring physicians

Adult Genetics

Medical geneticist Jodi Hoffman, MD and genetic counselor Lauren Lichten, MS, CGC provide diagnostic and 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 and fax referrals to 617-414-5741.

Amyloidosis Center

For more information, please call: 617.638.4317


Center of Excellence in Sickle Cell Disease
Hemoglobin Diagnostic Reference Laboratory 
For more information, please call: 617.414.1024.
Medical Director: David Chui, MD

Prenatal Services

Phillip Coonors, MS, CGC
Lilian Sosa, MS, CGC
Christina Yarrington, MD

For an appointment, call 617.414.2000
Antenatal Testing Unit: Yawkey 5th Floor

Cancer Genetics

Clare Hacking, MS, CGC and Annie Nyberg, MS, CGC are certified genetic counselors and provide consultation and testing for cancer predisposition syndromes for people who have a strong personal or family history of certain types of cancer. Identifying a genetic cause for cancer in a family allows for increased surveillance and earlier detection for at risk family members. The team works with testing companies and insurance to cover this testing.  Consultations are provided in the Moakley Building, 3rd floor, at 830 Harrison Ave.

For an appointment call: 617-638-6428
Referrals can be faxed to: 617-414-1558
For more information: http://www.bmc.org/cancer-center/services/genetic-counseling.htm

Pediatric Genetics

Medical geneticist Jodi Hoffman, MD and genetic counselor Lauren Lichten, MS, CGC 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. Consultations are provided in the Yawkey Ambulatory Care Clinic, 6th floor.

For an appointment call 617-414-4841 and fax referrals to 617-414-5741

For more information:  http://www.bmc.org/pediatricsgenetics.htm

Prenatal Genetics

Genetic counselors Philip Connors, MS, CGC and Lillian Sosa, MS, CGC  provide consultation and counseling in the antenatal unit at Boston Medical Center to women who are pregnant or considering a pregnancy. Reasons for visits include advanced maternal age, abnormal nuchal translucency or maternal serum screening, medication exposures, carrier status, and family history. Clinic is held in Boston Medical Center’s Antental Center, Yawkey 5th Floor.

For an appointment call 617.414.2000
For more information visit http://www.bmc.org/obgyn/services/obstetrics.htm

Medical geneticist Jodi Hoffman, MD provides consultation and management for women who are currently pregnant with a fetus found to have birth defects, genetic conditions, or at high risk for a condition seen in a previous child. Dr. Hoffman also provides consultation to women and men considering a pregnancy who may be at increased risk of having a child affected with a genetic condition due to family history of genetic conditions (Fragile X syndrome, cystic fibrosis, SMA, sickle cell anemia, etc.) and ethnic background (Ashkenazi Jewish and others). Clinic is held Tuesdays in Boston Medical Center’s Women Center, Yawkey 5th Floor.

For an appointment call 617-414-2000 and fax referrals to 617-414-7212
For more information:

Diagnostic Molecular Genetics Laboratory Services

Raveen Basran, D.Phil. Director of Diagnostic Molecular Genetics (raveen.basran@bmc.org:  617.414.5329)
Tom Maher, MS, Laboratory Manager of Diagnostic Molecular Genetics (Tom.Maher2@bmc.org: 617.414.5312)
Dan Remick, MD – Medical Director, Diagnostic Molecular Genetics
Download Diagnostic Genetics Consent Form (PDF)

Tissue Based Diagnostic Molecular Pathology (DMP)

Michael O’Brien, MD – Chief Anatomic Pathology
Carl O’Hara, MD – Chief of Laboratory Medicine
Shi Yang, MD, Scientific Director
Download Tissue Based DMP Requisition Form (PDF)

Microbiology Molecular Diagnostics

Nancy Miller, MD, Medical Director Microbiology (nancy.miller@bmc.org)
Chris Andry, PhD, Vice Chair for Pathology Operations and Management (chris.andry@bmc.org)
Janet Means MT MS Administrative Director (janet.means@bmc.org:  617.638.7800)
Neil ONeill, Laboratory Operations Manager
(neil.oneill@bmc.org:  617.414.4737)

All molecular genetics testing at BMC should be processed via the BMC Laboratory. BMC uses Quest Diagnostics as a reference laboratory and performs some testing in house. Quest Diagnostics’ highly trained geneticists and genetic counselors are available at 1.866.GENE.INFO, (1.866.436.3463)