Executive summary. Department of Human Resources, Genetic Newborn Screening Program / Performance Audit Operations Division, Department of Audits and Accounts

EXECUTIVE SUMMARY
Department of Human Resources Genetic Newborn Screening Program
November 2002

Russell W. Hinton, State Auditor Performance Audit Operations Division Department of Audits and Accounts

254 Washington St, SW Atlanta, GA 30334

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The Genetic Newborn Screening Program was created in response to a 1978 statute that mandated DHR create a system to test all Georgia newborns for specific genetic disorders that can be lethal in the early days of a newborn's life (see chart on back). The lethal affects of each of these disorders can be prevented if they are rapidly detected and treated. The screening process includes: collecting blood samples; testing samples for the disorders; and follow-up notification, diagnosis, and initiation of treatment.
Hospitals are required to collect blood samples for all babies born under their care at 48 hours after birth or upon release from the hospital, whichever is earlier. The samples are sent to the Georgia Public Health Laboratory for testing, at which point the laboratory determines whether or not the samples are satisfactory for testing. After testing, the laboratory releases screening results to the hospital, the doctor listed on the sample form, and the Program. The Program contracts with four organizations to handle the follow-up processes. Emory University Department of Pediatrics handles all metabolic and endocrine disorder follow-up; Grady Memorial Hospital's Comprehensive Sickle Cell Center (Grady) and the Medical College of Georgia's Sickle Cell Center (MCG) handle follow-up for all sickle cell disorders; and the Sickle Cell Foundation of Georgia provides counseling for parents of infants identified as carriers of the sickle cell trait.
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The Program cannot provide reasonable assurance that all Georgia newborns receive a screening test, follow-up care is provided to all newborns who require it, or program operations are assessed on an ongoing basis. No checks are in place to determine if all newborns receive a screening. Additionally, sufficient
action is not taken to replace samples deemed unsatisfactory for testing. A review of 59 unsatisfactory samples received in calendar year 2001 revealed that 29 (49%) never received a satisfactory replacement. No analysis is conducted to ensure each positively screened infant receives follow- up care. A review of 153 files found that, while initial contact could be confirmed in 150 cases, the degree of follow-up care provided could not be consistently determined. Additionally, no internal controls exist to ensure that complete data is transmitted to the follow-up contractors correctly and in a timely manner. In calendar year 2001, 38 positively screened newborns were mistakenly not transmitted to MCG and Grady. While action was taken to correct this problem, no systematic solution has been implemented to ensure such mistakes are identified and corrected. Program staff do not collect information on the costs to conduct the Program, timeframes in which screening is conducted, or evaluate the disorders for which the state should be screening.

The Program should assess the Voice Response System (VRS) to ensure it is effectively providing screening results to doctors, and should standardize the process for releasing test results. We tested 19 samples and found one case in which the mailed test result indicated a positive screening for a disorder while the VRS reported tests were normal. In seven cases, the VRS stated that results were not on file even though results had already been mailed. Additionally, the Program should standardize the process for releasing results so that the Program Office, laboratory, and follow- up contractors handle information in the same way.
Consideration should be given to instituting recommendations of the 1999 federal review. Recommendations not yet addressed include: no longer testing unsatisfactory samples; evaluating the benefits of expanding the laboratory's hours of operation; determining whether physicians are aware of and using the VRS; evaluating new technology in light of the costs as well as the benefits; and ensuring hospitals' participation on the Advisory Committee.
The Program should review hospitals' screening practices and target training and educational efforts appropriately. Reviewing activities and targeting training could reduce the number of unsatisfactory samples received, provide information for evaluating screening rates, and ensure parents are afforded their right to refuse screening as provided by law.
The Program should systematize coordination with other health care programs within DHR. Doing so would ensure a seamless transition of affected infants into care and ensure the Department is complying with the statutory requirement that it establish a statewide network for providing counseling and initiating and continuing therapy.
Consideration should be given to revising the statute to fully reflect the Program's activities and clarify the Department's responsibilities. Revisions may include adding a system of follow-up for sickle cell disorders, including the addition of new disorders that may cause death as well as mental retardation, and requiring parental notification regarding a positive screening for all eight disorders as opposed to the two currently listed in the statute.
At least one other state has mandated that physicians notify all newborns' parents of the availability of genetic disorder screenings not currently provided by the state. Georgia does not provide information to parents regarding additional testing available outside of the state's Program. However, private laboratories provide testing for more than 30 genetic disorders.
Current state statute regarding the privacy of genetic information does not apply to the Georgia Newborn Screening Program. The statute excludes from its definition of genetic testing chemical [and] blood analysis such as that used by the Program. However, the federal Health Insurance Portability and Accountability Act of 1996 (HIPAA) will impact the Program's protection of infants' data beginning April 2003.
Descriptions of the Disorders
Phenylketonuria - Inability to break down proteins in food and milk due to the absence of a liver enzyme. Sickle Cell Blood Disorders - An abnormal version of the blood protein hemoglobin causes red blood cells to change shape causing blood cells to clog blood vessels, preventing oxygen transport. Galactosemia - Inability to break down sugars from milk and other foods due to the absence of an enzyme. Tyrosinemia - Inability to metabolize the amino acid tyrosine, causing a toxic build up in the blood. Maple Syrup Urine Disease - Inability to break down amino acids in proteins due to an enzyme deficiency. Congenital Hypothyroidism - Inability of the thyroid gland to produce sufficient amounts of the hormone thyroxine. Homocystinuria - Inability to change one amino acid into another, resulting in a toxic build-up in the blood. Congenital Adrenal Hyperplasia - Lack of an enzyme used to produce hormones necessary for regulating proper growth, development, metabolism, and fluid balances in the body.
For additional information or to request a copy of the Performance Audit, contact Paul E. Bernard, Director, at 404-657-5220.
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