Diagnostic Genetics Services

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Services

Clinical Genetic Services for Genetic Conditions

Amyloidosis Center
For more information, please call:  617.638.4317
Medical Director:  David Seldin MD, PhD


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


OB-Gyn & Antenatal Services
Katherine Krepkovich, MS, MS, CGC, (genetic counselor)
MaryAnn Campion, MS, CGC, (genetic counselor)
Jodi Abbott, MD, (maternal fetal medicine specialist)
Aviva Lee-Parritz, MD, (maternal fetal medicine specialist)
Jennifer Dwan, MD (maternal fetal medicine specialist)
Robert Blatman, MD(maternal fetal medicine specialist)

To schedule appointments, please call 617.414.2000.

Location
Antenatal Testing Unit is in Yawkey, ACC4
Reception area/waiting room 4S-02


Oncology
Maureen Flynn, MS, MPH, CGC – Genetic Counselor

For more information, please visit the Genetic Counseling Services page.

To schedule appointments, please call 617.638.5908.
Referrals can be faxed directly to 617.638.5909.

Location
Genetics – Cancer Care
Moakley Bldg, 830 Harrison Avenue
3rd Floor, Suite 3400 (registration/check-in)


Pediatrics
Genetics Consultations

Boston Medical Center’s Pediatric Specialty Group offers genetic consultations on Thursdays.  Clinical Genetics is a medical specialty that  provides diagnostic and management services for individuals who have inherited disorders or birth defects.  Children with birth defects, unusual physical features, developmental days, abnormal growth, or unusual behaviors are often referred for a genetics evaluation to determine if a genetic condition could explain their features.   It is important to remember that many children referred to pediatric genetics do not end up having a genetic condition. 

Appointments:
To schedule an appointment, please call: 617 414 4841. Appointments are on the 5th floor of the Yawkey Building at 850 Harrison Avenue

Genetics Staff:
Audrey Woerner, MD, MPH Clinical Geneticist
Email: Audrey.Woerner@bmc.org

Dr. Woerner received a BA in Speech-Language-Hearing from the University of Kansas and an MPH from the University of Texas Houston School of Public Health and an MD from the University of Texas Houston Medical School.  She completed a 5 year combined Pediatrics/Medical Genetics Residency program at the University of Texas Houston and began working as a Clinical Geneticist at Boston Children’s Hospital with a faculty appointment at Harvard Medical School in 2011.  She is board certified in Clinical Genetics.  She is the faculty advisor for the Medical Geneticist Student Interest Group at Harvard Medical School, is currently piloting a TeleGenetics program through Boston Children’s Hospital.     


Lauren Lichten, MS CGC  Licensed Genetic Counselor
(Pager) 617 638 5958
Pager 0283
Email: Lauren.Lichten@bmc.org

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.

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. Woerner 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, Dr. Woerner 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. Woerner 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. Woerner 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. Woerner.   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.

Developmental and Behavioral Pediatric Clinical Programs
Marilyn Augustyn, MD, Division Director
Associate Professor of Pediatrics, Boston University School of Medicine, Boston MA
Developmental and behavioral pediatrician

For Appointments or to Refer a Patient
Call:  800.682.2862 or 617 414 4841, press 1,2,3
Fax:  617.414.7915

Boston Medical Center
Department of Pediatrics
Developmental & Behavioral Pediatrics
Vose Hall
4th Floor
88 East Newton Street
Boston, MA 02118

Diagnostic Molecular Genetics Laboratory Services
Department of Pathology & Laboratory Medicine

Dan Remick, MD – Medical Director, Diagnostic Molecular Genetics
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)

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)

Administration
Department of Pathology & Laboratory Medicine
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)

 

Appointments

Call: 800.682.2862 toll-free
Fax: 617.638.6756
Email: BMCconnect@bmc.org

Hours
Monday-Friday
8:30 am to 5:00 pm
After-hours, please leave a message and your call will be returned by a nurse on the next business day.

To Refer a Patient

Call: 800.682.2862 toll-free
Fax: 617.638.6756
Email: BMCconnect@bmc.org

Learn More

Quick Links

Amyloid Center 
Cancer Center 
Hematology/Oncology
OB/GYN
Pediatrics Home 
Pediatrics - Genetics
BMC Campus Virtual Tour 
Patient Advocacy 
Directions to BMC

Downloads (PDF)

Patient Consent Form for Genetic Testing  
BMC Campus Map
What Makes BMC Special