State of Connecticut

Department of Public Health

The Connecticut Department of Public Health (DPH) is an executive agency charged to protect Connecticut residents’ health and safety.  DPH works actively to prevent disease and promote wellness through education and programs such as, prenatal care, immunizations, AIDS awareness, supplemental foods, oral health, and cancer screening.  DPH also monitors and educates on infectious diseases, environmental and occupational health hazards, and protects healthcare consumers.  The DPH Laboratory provides testing and monitoring support.  As many other State Public Health Departments, DPH collects and analyzes health data for assessment, planning, and policy development.

DPH is the state's leader in public health policy and advocacy.  DPH is the center of a comprehensive network of public health services at the state, regional, and local level.  The agency is a source of accurate and timely health information for Congressional representatives, federal government, Governor, legislators, other state agencies, and local communities.  DPH is also the regulating and licensing body for all health care providers.  DPH is focused on healthy outcomes maintaining the balance between assuring quality and reducing the administrative burden on the public health and health care personnel, facilities, and programs. 

Public Health Genomics at DPH

In 2002, recognizing the increasing role that genomic discoveries play in disease detection, prevention, and treatment, DPH embarked on a multi-year planning process to assess statewide genetic service needs and to develop a Connecticut Genomics Action Plan to address those needs.



The first outgrowth of this effort was the establishment of the Virtual Office of Genomics (VOG) in 2005 to facilitate the integration of emerging genomic technologies into public health policy and practice.  Comprised of representatives from across DPH, the Virtual Office of Genomics has as its mission: “Promoting health and preventing disease and disability across the lifespan of Connecticut residents through the integration of evolving genomic information and technology within all affected areas of public health.”

The CT Genomics Action Plan, published in 2005 and updated in 2007, outlines five priority areas: infrastructure development, education, services, data integration, and improved health outcomes.  The Plan also calls for the establishment of a staffed DPH Office of Genomics.   Since the Plan’s completion, implementation efforts have included:  establishing an Expert Genomics Advisory Panel with representatives from DPH, genetics service providers, researchers, academia, insurers, and consumers; developing genomics workgroups in areas of science, education, services, and ethical/legal/social issues; establishment of the DPH genomics webpage; completion and on-line posting of an issue brief on newborn screening for Cystic Fibrosis and resource documents on breast cancer and genetic testing for BRCA 1 & 2
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mutation; annual instate presentations by national genetics experts; a DPH study on the public’s awareness of genetics and its relationship to common diseases accepted for presentation at the American Public Health Association annual conference; and active participation in the New England regional genetics activities including co-chairing the New England Public Health Genetics Education Collaborative.

History of Genetics Services in Connecticut

In 1964, the Connecticut Statewide Laboratory Newborn Screening Program was started with screening for phenylketonuria (PKU) and galactosemia.  Through the years, many disorders were added to the screening panel.  A Genetics Advisory Committee also served to advise these newborns screening developments.

Connecticut State Law mandates that all newborns delivered in Connecticut be screened for selected genetic and metabolic disorders.  The DPH Newborn Screening Program consists of three components: Testing, Tracking, and Treatment.  Specimens are tested at the DPH Laboratory and all abnormal results are reported to the DPH Tracking Unit who reports the results to the primary care providers and assures referrals are made to the state-funded Regional Treatment Centers.  The Regional Treatment Centers provide comprehensive testing, counseling, education, treatment, and follow-up services.  The Tracking Unit coordinates and provides educational programs, guidelines, protocols, materials, technical assistance for birthing facilities staff, primary care providers, and health professionals, and provides telephone technical assistance for families and the general public.

The aim of this program is to screen all babies born in Connecticut prior to hospital discharge or within the first 4 days of life with the goal of early identification of infants at increased risk for selected metabolic or genetic diseases.  This timeliness ensures that medical treatment can be promptly initiated to avert complications and prevent irreversible problems and death.

The CT Statewide Newborn Screening Program (NBSP) continues to respond to national recommendations for expansion of the Laboratory Newborn Screening panel.  Currently, the disorders in the Connecticut screening panel include Amino Acid Disorders, Organic Acidurias, Fatty Acid Oxidation Disorders, Carnitine Transporter Deficiency, Congenital Hypothyroidism, Sickle Cell and Hemoglobinopathies, Biotinidase Deficiency, Galactosemia, and Congenital Adrenal Hyperplasia.

The Connecticut Department of Public Health is committed to identifying and addressing emerging needs related to developments in human genomics and their potential benefit to the health of its citizens.

J. Robert Galvin, M.D., M.P.H., Commissioner
Norma Gyle, R.N., Ph.D., Deputy Commissioner

For more information, contact:
Virtual Office of Genomics: Beverly Burke, MSW, at 860-509-7122
Genetic Laboratory Newborn Screening: Fay Larson, RN, MS, at 860-509-8081
Early Hearing Detection and Intervention Program: Donna Maselli, RN, MPH, at 860-509-8057
Or visit website at: http://www.ct.gov/dph/site/default.asp