State Genetic Information

State Genetics Contact:

Ellie Mulcahy, R.N.C.
Director, Maine Genetics Program
Maine Department of Health and Human Services
286 Water St.
Augusta, ME 04333
Tel: 207-287-4623

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.

Maine Department of Health and Human Services/Genetics
Genetics and Newborn Screening Region 1 Collaborative

Clnical 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.
Maine Genetics Program/Maine Department of Health and Human Services

Eastern Maine Medical Center Genetics Program
Pediatric Specialty Clinics
Webber East Suite 305
417 State Street
Bangor, Maine 04401
Tel: 207-973-7559
Toll-free 1-877-366-3662 X7559 (Program Office, Clinic Coordinator) Tel: 207-973-7553
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
Tel: 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
Tel: 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
Director, Division of Genetics
PO Box 190
Scarborough, Maine 04070
Tel: 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.
Gene Tests Homepage
GeneTests-Maine Clinical Directory


Genetic legislation may be clearly expressed in public health statutes. It may also be embedded in other regulations, administrative rules, or other less obvious statutes, e.g. labor law. Identifying and interpreting state genetics legislation is not necessarily straightforward. Example of genetic-related legislation in Maine are:
Genetic Anti-Discrimination: Maine Insurance Code Unfair Discrimination and Health Insurance 24A§§2159 – c(2)
Definitions 2204
Continuity of Care/Nondiscrimination 2850-C

Resources for genetic legislation include: