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Maine
State Genetic
Information
State Genetics Coordinator:
Ellie Mulcahy, R.N.C.
Director, Maine Genetics Program
Maine Department of Health and Human Services
286 Water St.
Augusta, ME 04333
(207)287-4623
Eleanor.a.mulcahy@maine.gov
Maine Genetics Program provides grants to two genetic service
agencies to assure availability of comprehensive services related to
genetic conditions, including risk assessment, laboratory and
clinical diagnosis, counseling, case management and referral and
education of providers, clients and the public. Program staff
coordinates newborn screening for 28 conditions, which if left
untreated would cause mental retardation, other health problems or
death. Referrals are made for treatment and services for
individuals with these conditions. The Program also conducts a
Newborn Hearing Program, including a central registry, resources and
referrals.
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Clinical Genetic Services:
Clinical genetics are medical services provided to individuals,
families, and populations who have or are at risk for disorders with
genetic implications. Services include testing, counseling,
education, treatment, and where appropriate, referral for other
services.
Click the blue links for:
Maine
Genetics Program/Maine Department of Health and Human Services
Eastern Maine Medical Center Genetics Program
R. Stephen S. Amato, MD, PhD, Genetic Program Director, Chief of
Pediatrics
Pediatric Specialty Clinics
Webber East Suite 305
417 State Street
Bangor, Maine 04401
PHONE (207) 973-7559 or Toll-free 1-877-366-3662 X7559 (Program
Office, Clinic Coordinator)
PHONE (207) 973-7553 or Toll free 1-877-366-3662 X7553 (Program
Office, Secretary)
EMMC Genetics Program provides consultation
and management services for individuals, couples, and families.
Services are offered through a number of specialty clinics provided
by the Genetics Program at EMMC. Initial genetic evaluation and
assessment and ongoing management for persons with a known genetic
condition are offered through Genetics Clinic.
Division of Genetics at the Barbara Bush Children’s Hospital, Maine
Medical Center
Wendy Smith, MD, Division Director
Rosemarie Smith, MD
Tom Brewster, MD, Director BBCH Metabolism Program
Valerie Banks, MS, Genetic Counselor
Sara Ellingwood, MS, CGC, Genetic Counselor
Maine Pediatric Specialty Group
887 Congress Street, Suite 320
Portland, ME 04102
PHONE (207) 662-5522 or 1-800-860-6277
FAX (207) 662-5528
The Division of Genetics provides genetics services for individuals
from primarily Southern Maine and New Hampshire. Consultative and
management services include dysmorphology evaluations, ongoing
management of complex medical care for individuals with known
diagnoses, family risk assessment, provision of genetic testing and
appropriate genetic counseling, evaluation, diagnosis and management
of inborn errors of metabolism, enzyme replacement therapy services
for lysosomal storage diseases and prenatal consultations in complex
cases. While direct patient care is our main focus, we also provide
essential services and education to primary care physicians and
other subspecialists at MMC, in the community, as well as throughout
the State of Maine and New Hampshire.
The Cancer Genetics Program
Susan Miesfeldt, MD, Medical Oncologist and Program Director
Heather Sylvester, MS, Genetic Counselor
Karen Rasmussen, PhD, Oncologic Geneticist
Cancer Risk and Prevention Clinic at Maine Medical Center
100 US Route 1
Scarborough, ME 04074
PHONE (207) 885-8533
FAX (207) 885-8500
The Cancer Risk and Prevention Clinic provides a family history
evaluation and genetic risk assessment for individuals and families
primarily in Southern Maine and New Hampshire. A visit includes
reviewing an individual’s personal and/or family history of cancer
in order to evaluate possible hereditary cancer susceptibility
disorders (HCSDs). The genetic counselor explains genetics,
inheritance, discusses genetic syndrome differentials, available
testing, possible testing outcomes, and research possibilities. A
visit continues with the physician who reviews an individual’s
personal history in order to provide a more personalized risk
assessment. Furthermore, the doctor is available to answer medical
questions, discuss differentials, and make recommendations for
follow up surveillance, screening, and potential prevention.
While direct patient care is our main focus, we also provide
essential services and education to primary care physicians and
other subspecialists at MMC, in the community, as well as throughout
the State of Maine and New Hampshire. To discuss a case or schedule
education services please contact Heather Sylvester, M.S., at (207)
885-7591. To make a referral, please contact Martha Ahonen (207)
885-8534.
Foundation for Blood Research
Dale Halsey Lea, RN MPH CGC APNG FAAN
Director, Division of Genetics
PO Box 190
Scarborough, Maine 04070
PHONE: (207) 883-4131
FBR is a nonprofit medical research and education institute composed
of laboratory, public health, biostatistical, and education experts.
Its purpose is to find more effective ways to identify, manage, and
prevent human disease through clinical and laboratory investigation,
epidemiology, outreach science education, computer-based analysis,
public health program design, and clinical testing.
GeneTests, is a publicly-funded, medical genetics information
resource that has a searchable clinical directory for all states,
type of service, and specialty clinic.
Click here for:
Gene Tests Homepage
Click here for:
GeneTests - Maine Clinical Directory
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*All
material within this website is presented as a public service, and does not necessarily
represent endorsement by the NNSGRC and its sponsoring agencies. Users of this website are
responsible for checking the accuracy, completeness, currency, and/or suitability of all
information contained herein. |
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