Clinical Care & Research

GAFP Spotlight On: Georgia’s Newborn Metabolic & Sickle Cell Infant Screening Program
During fiscal year 2005, the Georgia Public Health Laboratory tested more than 199,000 newborn screening specimens (blood spots) from throughout the state. Of those specimens, 82 infants were diagnosed with metabolic diseases and 132 infants were diagnosed with sickle cell anemia. Early diagnosis and treatment of these inherited metabolic disorders (by three weeks of age) and sickle cell disorders (by two months of age) can prevent irreversible mental retardation in some children, and death in others.

These statistics underscore the importance of Georgia’s Newborn Metabolic and Sickle Cell Screening Program which is now more than three decades old and illustrate the program’s primary function to reduce child deaths and disabilities associated with nine inherited metabolic diseases and sickle cell disorders. The program, along with Children 1st and the Universal Newborn Hearing Screening and Intervention program, is part of Georgia’s newborn screening system.

This comprehensive, statewide system assures that all newborns receive screenings for selected inheritable metabolic diseases and sickle cell disorders and effective January 1, 2007, Georgia law (OCGA 31-12-6 & 31-12-7) and Rules and Regulations (Chapter 290-5-24) required that every live born infant have an adequate blood test to detect the following: Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia, and Cystic Fibrosis.

The Georgia Newborn Screening Program is a five part preventive health care system designed to identify and provide early treatment for selected inherited disorders that otherwise would cause significant morbidity or death. The five components of the program are:
1. Screening: universal testing of all newborns by the Georgia Public Health Laboratory
2. Follow-up: rapid retrieval and referral of the screen-positive newborn
3. Medical Diagnosis: confirmation of a normal or abnormal screening test result by a private physician or tertiary treatment center
4. Management: rapid implementation and long-term planning of therapy
5. Evaluation: validation of testing procedures, efficiency of follow-up and intervention, and benefit to the patient, family and society. Includes consideration of adding other tests to the system as indicated by appropriate research and scientific evidence.

Education and training on what is required by the newborn screening legislation, and how to meet those requirements, is available for all healthcare providers through the Georgia Department of Human Resources Division of Public Health Family Health Branch.

All newborns in Georgia are screened as required by law. Newborns who screen positive may also qualify for the Children’s Medical Services Program (CMS), based on financial and medical eligibility requirements.

For more information contact: Sharon Quary (404) 657-6359
E-mail: scquary@dhr.state.ga.us
http://health.state.ga.us/programs/nsmscd/
State Program Manager for Metabolic/Genetic Newborn Screening
Georgia Department of Human Resources
Division of Public Health

Editor’s Note This article is the second in a two-part series on the various functions of the Georgia Public Health Laboratory.

March 20, 2008

NPI Deadline Approaching
The National Provider Identifier (NPI) has been adopted by the U.S. Department of Health and Human Services to meet the HIPAA health care provider identification mandate. It replaces all existing health care provider identifiers including numbers assigned by Medicare, Medicaid, Blue Cross, etc. on standard HIPAA transactions.
It will be the number used to identify providers nationally. In compliance with federal regulations, Georgia Medicaid is now requiring the use of a National Provider Identifier (NPI) when submitting electronic Medicaid claims. Medicaid providers who are not eligible to receive an NPI will maintain their current Medicaid Provider ID. On May 23, 2008, standard electronic transactions may ONLY contain the NPI to identify the provider.

A complete listing of provider types and requirements for obtaining an NPI can be found on the GHP Web portal at https://www.ghp.georgia.gov/wps/portal under Provider Information- National Provider Identifier Information.

March 20, 2008

A User’s Guide to Georiga’s Public Health Laboratory
Every year, Georgia newspaper headlines report multiple outbreaks of influenza as confirmed by the Georgia Public Health Laboratory (GPHL). While high-profile public health issues such as influenza capture the public’s attention, the vital screening, diagnostic and reference laboratory services provided by the GPHL throughout the year are essential components of Georgia’s overall public health infrastructure.

The Georgia Public Health Laboratory’s principal role is to provide analytical and technical support to continually evolving state and federal public health programs through:

Direct Program Support - including laboratory testing for STD, TB and HIV and for the Stroke and Heart Attack Prevention Program. Sexually transmitted diseases and HIV testing (in addition to newborn screening) produce the GPHL’s largest volume of specimens. Physicians who need HIV submittal forms or who have questions about ordering specimen collection kits can find updated forms and fact sheets on the GPHL’s Web page: http://health.state.ga.us/programs/lab/manual.asp.

Legal Requirements - including mandated newborn metabolic and sickle cell screening. Physicians throughout the state can access screening results with a touch-tone telephone 24 hours a day, seven days a week using the Voice Response System (VRS) for the Newborn Screening Program. To ensure confidentiality and security, a state medical license number or a submitter code number is required to access the system, as well as a personal identification number (PIN) assigned at the time of enrollment.

Once registered with the system, screening results for any child born in Georgia can be accessed using the Social Security number of the infant’s mother. The newly designed specimen collection form, which includes a space for the mother’s SSN, is already in circulation. To enroll in the system, go to http://health.state.ga.us/programs/lab/vrs.asp or call
(404) 327-6800.

Epidemiology - helps to monitor reportable diseases by providing notification of positive tests performed in the laboratory for influenza, rabies, Rocky Mountain spotted fever and giardiasis.

Each year, from October to mid-May, Georgia’s Division of Public Health tracks cases of influenza throughout the state with the help of volunteer sentinel physicians. While each individual case of influenza is not reportable to health authorities, influenza activity is monitored by watching the percentage of doctors’ visits for “influenza-like illness” (fever >100 F and cough and/or sore throat). In addition to weekly reporting, these volunteer providers send throat swabs from patients for laboratory testing (virologic confirmation and subtyping).

Based on testing conducted each week at the GPHL, the Georgia Division of Public Health posts information on circulating influenza strains on its Web site at http:health.state.ga.us/epi/flu/strain07.asp. The data is then entered into a database to help determine which strains will be included in next year’s influenza vaccine. All data collected by Georgia sentinel physicians are sent to the Centers for Disease Control and Prevention (CDC) for inclusion in the nationwide network.

Reference Testing - including definitive, complex or new tests on specimens or referred cultures, principally in bacteriology, mycobacteriology or virology.
Visit http://health.state.ga.us/programs/lab/index.asp to download the Laboratory Services Manual for more information on GPHL services and contact information for managers in each program unit. Because the online version of the Laboratory Services Manual is due to be updated, e-mail gdphinfo@dhr.state.ga.us or call (404) 327-7900 if you cannot find the information you need online.

Editor’s note: This article is the first in a two-part series on the Georgia Public Health Laboratory. Part two of the article will appear in our next newsletter and will examine Georgia’s newborn metabolic screening program.

February 26, 2008

Why you Should be an Influenza Sentinel Provider
What is an influenza sentinel provider?
An influenza sentinel provider conducts surveillance for influenza-like illness (ILI) in collaboration with the state health department and the Centers for Disease Control and Prevention. Data reported by sentinel providers, in combination with other influenza surveillance data, provide a national picture of influenza virus and ILI activity in the United States. Approximately 1,600 providers throughout the country were enrolled in this network during the 2005-06 influenza seasons.

What data do sentinel providers collect?
How and to whom are data reported?
Sentinel providers report the total number of patient visits each week and the number of patient visits for influenza-like illness by age group (0-4 years, 5-24 years, 25-64 years, >65 years). These data are transmitted once a week over the Internet, a touch-tone telephone or fax to a central data repository at CDC. Most providers report that it takes them less than 30 minutes a week to compile and report their data. In addition, sentinel providers can submit specimens from a subset of patients for virus isolation free of charge.

Who can be an influenza sentinel provider?
Providers of any specialty (for example, family practice, internal medicine, pediatrics, infectious diseases) in any type of practice (private practice, public health clinic, urgent care center, emergency room, university student health center) are eligible to be sentinel providers.

Why volunteer?
Influenza viruses are constantly evolving and cause substantial morbidity and mortality (approximately 36,000 deaths) almost every winter. Data from sentinel providers are critical for monitoring the impact of influenza and, in combination with other influenza surveillance data, can be used to guide prevention and control activities, vaccine strain selection and patient care. Sentinel providers receive feedback on the data submitted, summaries of regional and national influenza data and a free subscription to CDC’s Morbidity and Mortality Weekly Report and Emerging Infectious Diseases Journal. The most important consideration is that the data provided are critical for protecting the public’s health. For more information on influenza sentinel provider surveillance, please contact Talisa Gimbel at tgimbel@gafp.org or (404) 321-7445.

October 8, 2007

2007 Pfizer Teacher Development Awards for New Physicians
The AAFP is pleased to announce the 2007 Pfizer Teacher Development Awards program. Through this program, the Foundation strives to recognize outstanding, community based new physicians who combine clinical practice with part-time teaching of family medicine. Each of the fifteen (15) awardees receives a $1,500 scholarship to enroll in a skill-building opportunity to further their development as teachers of family medicine. In addition, each winner is recognized at a special event hosted by the teaching center. A $500 stipend will be provided to the residency or medical school to offset the cost of this event.

In 2006, GAFP member Lynn T. Denny, MD of Macon received one of the $1,500 awards. Dr. Denny received her degree from Mercer University School of Medicine, and at the time the scholarship was awarded, was teaching medicine part-time at Mercer. She was recognized for the achievement during a ceremony hosted by Mercer at the Macon Free Clinic.

To learn more about the eligibility requirements and to download application forms visit www.aafpfoundation.org/ptda.xml. Individuals preferring the application packet in hard copy may contact Sondra Goodman by email at sgoodman@aafp.org or by calling (800) 274-2237, ext 4457. The application deadline is May 11.

April 10, 2007

Perinatal Hepatitis B infection carries a 90-percent risk of lifelong chronic infection, with a 25-percent risk of premature mortality due to cirrhosis or liver cancer, when postexposure prophylaxis is not administered. The Georgia Perinatal Hepatitis B Prevention Program tracks infants born to HBsAg-positive women and works with public health and private providers to prevent perinatal hepatitis B infection through immunization. One step in this process is often overlooked by providers – the post-vaccination serology.

The ACIP recommends that infants born to hepatitis B-infected mothers be tested for evidence of immunity or infection after completion of the hepatitis B vaccine series. Testing should be done when the infant is between 9 and 18 months of age to avoid interference from the HBIG injection given at birth. The only two blood tests to be ordered for these high-risk infants are the hepatitis B surface antigen (HBsAg) and hepatitis B surface antibody (anti-HBs).
Interpretation of lab tests:
* anti-HBs positive and HBsAg negative = immunity is achieved;
* anti-HBs and HBsAg negative = no immunity; a second series of hepatitis B vaccine is needed;
* anti-HBs negative and HBsAg positive = infant has perinatal hepatitis B infection.

Perinatal hepatitis B is a notifiable disease in Georgia and is reportable to the Centers for Disease Control and Prevention (CDC). The infected child should be routinely monitored for evidence of liver disease.

For more information, please contact Karol Travis, perinatal hepatitis B coordinator, at (404) 657-0278.

Reference: CDC. (2005) A Comprehensive Immunization Strategy to Eliminate Transmission of Hepatitis B Virus Infection in the United States: Recommendations of the Advisory Committee on Immunization Practices (ACIP) Part 1: Immunization of Infants, Children, and Adolescents. MMWR 54(RR-16);1-31.

January 19, 2007

The Georgia Newborn Screening Program will expand the number of disorders on its screening panel from 13 to 29, including hearing screening. There will be a $40 fee for specimens submitted for screening. Please see the Georgia Newborn Screening Program Web site for updates: http://health.state.ga.us/programs/nsmscd/.

Current Screening

  • Phenylketonuria;
  • Congenital Hypothyroidism;
  • Maple Syrup Urine Disease;
  • Galactosemia;
  • Tyrosinemia;
  • Homocystinuria;
  • Congenital Adrenal Hyperplasia;
  • Biotinidase Deficiency;
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD);
  • Sickle Cell Anemia (three types).

Expanded Screening

  • Isovaleric acidemia;
  • Glutaric acidemia type I;
  • 3-OH 3-CH3 glutaric aciduria (HMG);
  • Multiple carboxylase deficiency;
  • Methylmalonic acidemias (2 types);
  • 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC);
  • Propionic acidemia;
  • Beta-ketothiolase deficiency;
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD);
  • Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD);
  • Trifunctional protein deficiency;
  • Carnitine uptake defect;
  • Citrullinemia;
  • Argininosuccinic acidemia;
  • Cystic Fibrosis.

Please call Jill Ray at (404) 657-6314 or e-mail mjray@dhr.state.ga.us for more information. 

January 19, 2007