Division of Genetics Overview

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The Division of Genetics at Boston Children's Hospital offers state-of-the-art diagnostic and clinical management for children, adolescents, and adults with genetic conditions, including inborn errors of metabolism.

Patients are evaluated by a multi-disciplinary team of physicians, nurses and counselors who specialize in genetics, syndrome identification, metabolic disease, and birth defects.

In order for your child to receive the most comprehensive and coordinated care, our staff works closely with other medical and surgical specialists here at Boston Children's Hospital.

New Autism Test Available at Boston Children's

A new test for Chromosome 16 deletion/duplication abnormality in children with autism is now available through the Divisions of Genetics, Neurology and Developmental Medicine.
 

New drug on the horizon for PKU

Kim Stiles has to weigh and measure her 3-year-old son's foods every day to ensure he doesn't get too much of the amino acid phenylalanine, or "phe."

What's New

  • Dr. Joan Stoler joins the Genetics Division from Massachusetts General Hospital. Dr. Stoler specializes in craniofacial disorders as well as connective tissue disorders.

  • The Neurofibromatosis Program is expanding to Waltham. Dr. David Miller and Danielle Cataldo, NP, are now seeing patients in the NF Program at our Waltham satellite clinic.

  • The Genetics Program has expanded to Norwood. Dr. David Miller is seeing patients at our Norwood satellite clinic.

News

Christopher WalshA study led by Christopher Walsh, MD, PhD, chief of Genetics, studied 88 large Middle Eastern families with a high incidence of autism due to marriages between cousins (increasing the likelihood of rare inherited mutations). It found a half-dozen new genes that could be related to autism.

Patient Stories

Boston Children’s new star player

Ben MajewskiThe young couple in the waiting room of Boston Children’s Hospital Down Syndrome Program looks nervous. It’s the first time they’ve brought their 8-month-old son, Sam, to the clinic, and they’re uncertain just what to expect. But when Clinic Coordinator, Angela Lombardo, introduces them to Ben Majewski, 19, the clinic’s new resource specialist, they relax almost immediately. For the young parents anxious about their child’s future, Majewski—who has Down syndrome—represents a world of opportunities.

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At Boston Children’s Hospital , we aim to solve some of the world’s greatest pediatric health problems. Some ways we do this stem from scientific research: Understanding diseases deeply—even at the cellular or molecular level—leads to new drugs and therapies. 

Other discoveries arise from moments spent at patients’ bedsides, when doctors and nurses see opportunities to improve care. This approach, which we call “clinical innovations,” often requires us to develop entirely new tools or come up with inventive strategies. This creative form of innovation is the path by which many major improvements in health care have been made.

At Boston Children’s, we believe that patients and families deserve to know whether the hospital where they have chosen to receive their care meets the highest standards and is committed to excellence.  Through our Program for Patient Safety and Quality, we continually monitor and improve the care we provide to our patients. 

Since the diseases and chronic conditions that affect children and adolescents are quite different from those of adults, it is often not appropriate to use adult measures to evaluate the quality of pediatric care.  That’s why we have taken a leadership role in developing scientifically sound methods to measure the quality of care provided to all children and adolescents.

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Division of Genetics announces Clinical Exome Consultation Service

The Division of Genetics is pleased to announce the availability of a ‘genetic counselor on page’ (GCOP) as a resource to all staff and programs at Boston Children’s Hospital to assist with the following:

  • General questions concerning the choice and selection of genetic or genomic tests
  • Pre-test genetic counseling and assistance with ordering of tests and informed consent
  • Consultation regarding the interpretation of results which may include:
    • Clinically significant variants in a gene known to be associated with the patient’s condition
    • Variants or genes of unknown clinical significance
    • Coordination of testing for family members
    • Discussion of abnormal results in “medically actionable” genes unrelated to the patient’s primary condition—i.e. incidental or secondary findings
  • Discussion of results with patient and family and documentation of the discussion in the medical record

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The American College of Medical Genetics recently introduced guidelines recommending that laboratories that perform clinical sequencing seek and report mutations in a defined group of genes associated with “medically actionable” conditions (i.e. BRCA1, Long QT syndrome, Li-Fraumeni syndrome, Familial Medullary Carcinoma) that may not be associated with the patient’s primary indication for testing.

Genetic counselors in the Clinical Genetics Program at Boston Children’s work closely with staff geneticists to provide diagnostic evaluations and genetic counseling for children and families with known or suspected inherited conditions.  One particular area of counselor expertise is in coordinating molecular testing for patients and their families.  This includes identifying laboratories performing molecular testing for specific conditions, answering questions regarding the relative merits of single gene testing vs. panels and exomes for specific clinical indications, educating families regarding the benefits and limitations of the testing, locating and filling out the necessary requisition forms, and when indicated, obtaining consent for testing.  In addition, they provide accurate interpretation of results and their implications, arrange any appropriate follow up based on those results, and document all findings.  All documentation is authenticated by a staff geneticist in Power Chart.

The counselor on page can be reached Monday-Friday, 8:30-5pm through beeper #5337 or by email at genetics@childrens.harvard.edu

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Innovations

At Boston Children’s Hospital, we aim to solve some of the world’s greatest pediatric health problems. Some ways we do this stem from scientific research: Understanding diseases deeply—even at the cellular or molecular level—leads to new drugs and therapies. Other discoveries arise from moments spent at patients’ bedsides, when doctors and nurses see opportunities to improve care. This approach, which we call “clinical innovations,” often requires us to develop entirely new tools or come up with inventive strategies. This creative form of innovation is the path by which many major improvements in health care have been made. 

Quality and Safety

At Boston Children’s Hospital, we believe that patients and families deserve to know whether the hospital where they have chosen to receive their care meets the highest standards and is committed to excellence.  Through our Program for Patient Safety and Quality, we continually monitor and improve the care we provide to our patients. 

Since the diseases and chronic conditions that affect children and adolescents are quite different from those of adults, it is often not appropriate to use adult measures to evaluate the quality of pediatric care.  That’s why we have taken a leadership role in developing scientifically sound methods to measure the quality of care provided to all children and adolescents.

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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
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