APPROACHES TO SCREENING

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858 APPROACHES

APPROACHES

TO

SCREENING

Georgia’s

Experience

With

Newborn

Screening:

1981 to 1985

Mary

S. Harris,

PhD,

and James

R. Eckman,

MD

From the Georgia Department of Human Resources, Harris and Associates, Ltd; Georgia Sickle Cell Center at Grady Hospital, Emory University School of Medicine, Atlanta

Georgia’s newborn screening program for

hemo-globinopathies has been evolving for more than 23 years. The program began in 1964 with the

screen-ing of infants at 6 months of age and progressed to the full-scale implementation of a statewide hem-oglobinopathy newborn screening program in 1980. The program functions as a cooperative effort

with several major components: two tertiary care centers, a community-based clinic, and the state

public health department. The tertiary care centers

consist of the Augusta Comprehensive Sickle Cell

Center affiliated with the Medical College of Geor-gia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for

patient care, education, and research. The com-munity component consists of the Sickle Cell

Foun-dation of Georgia, which is responsible for

counsel-ing clients with sickle cell trait, community educa-tion, and notification of parents of infants with

normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing.

The program components coordinate their

serv-ices through a voluntary organization known as the

Georgia Sickle Cell Task Force. The organization

consists of representatives from agencies and or-ganizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to en-sure an efficient service network for education,

testing, counseling, patient management, program monitoring, and evaluation.

Georgia’s screening program can best be de-scribed as a targeted, voluntary, mandatory

screen-ing program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automati-cally tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Ri-can, Sardinian, Sicilian, South American, and

Southern Asian). The test is, however, offered to mothers not included in this group, which means

that testing is available for all infants.

Georgia’s newborn screening program is designed

for accuracy and speed (Figure). Cord blood samples are obtained in the hospital and sent to the state laboratory for analysis. Suspected abnormal

sam-ples are forwarded to the Augusta Sickle Cell Center

for further analysis and confirmation. When a sam-ple is confirmed to be positive for a clinically sig-nificant hemoglobinopathy, the Augusta Sickle Cell Center telephones the appropriate public health nurse and the physician of record to ensure prompt retrieval and initiation of medical treatment.

Writ-ten notification is also sent to the state Laboratory

Reports and Records Office, which in turn notifies the state genetics program, the hospital of birth,

the physician of record, and the appropriate public

health nurse.

Since the program began in June 1980 through December 1985, more than 280,000 infants have been screened (Table 1). Of these, 91% had Hb FA and 9% had a hemoglobinopathy. This 9% consists of 3.6% with sickle cell trait and 457 patients with

significant disease.

The low incidence of sickle cell trait in this

population (about 3%) suggested that some of the black newborns were not being tested. To further

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Phone

Notification

Written

Confirmation

Georgia Laboratory

Reports & Records

Disease Confirmation

Written Confirmation

Sickle Cell Center

_I

Figure. Georgia’s newborn sickle cell screening service network (sickle cell disease).

Hospital ofBirth and State Genetics Program

SUPPLEMENT 859 ____________ Retrieval for _____________________

I

Client Treatment & Physician

Counseling Public Health Nurse

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Sample

TABLE 1. Georgia Cord Blood Hemoglobin Testing

Re-sults: 1980 to 1985*

Hemoglobin Phenotype No. (%) of Infants

FA 258,526 (91.0)

FAS 10,237 (3.6)

FAC 3,212 (1.1)

F Bart’s 10,726 (3.8)

FS 251 (0.09)

FSC 136 (0.05)

FSA 27 (0.01)

FC 42 (0.01)

Other 805 (0.2)

* Data provided by Georgia Department of Human

Re-sources, Medical College of Georgia, and Grady Memorial Hospital.

determine this, test result data were analyzed using two different methods: racial designation of the specimens and known incidence of sickle cell dis-ease and trait.

A comparison (Table 2) of the total number of births with the total number of tests showed that only 61% of the total population of newborns had been tested. Moreover, when the samples were clas-sified by racial designation, although the total num-ber of tests exceeded the total number of black births, in actuality, only 45.5% of the samples were from black infants. This indicates that only about 80% of the target population was being tested, and about 20% of the black newborns may have been

missed. That the total number of tests exceeded the

TABLE 2. Estimated Ability to Test Targeted

Popula-tion: January 1, 1981, to December 31, 1985

Total Black White

No. of births 458,762 159,824 298,938

No.oftests 279,014 126,951* 152,063

% Tested 61 80 51

* Estimation based on designation of race accompanying

sample; 45.5% of specimens were stated to be from black

infants.

total number of births in the target population is attributed largely to the significant numbers of white infants (51% of the white newborn popula-tion) who were tested. Therefore, even though the total number of tests exceeded the total number of births in the target population, this number was misleading and not a reliable indicator that the entire population had been tested.

A comparison of the observed number of patients with disease with what would be predicted in a black population of this size again showed that only about 80% of our infants with sickle cell disease and sickle cell trait were being detected.

If we missed 20% of our population, as suggested by our data, then about 70 cases of sickling disease and 2,500 cases of sickle cell trait have been missed during the 5-year period.

We attributed our inability to reach the entire target population to hospitals that are noncom-pliant in testing, hospitals that are testing and not

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reporting their results to the state genetics program, and significant numbers of mothers in the at-risk population refusing testing or having infants born in facilities outside of the testing system (eg, birthing homes).

The Georgia experience clearly demonstrates that cord blood screening for hemoglobinopathies

is a practical and effective means of identifying infants affected with sickle cell disease and related hemoglobinopathies. However, the targeted

ap-proach used in Georgia does present some problems,

the major difficulty being how to ensure that the entire target population is reached. Other problems include noncompliance of hospitals because tar-geted screening allows them to decide who is tested, the potential stigmatization of the targeted popu-lation, and the nonidentification of affected infants who are not in the targeted population and, thus, cannot benefit.

Based on the experience in Georgia, we

recom-mend that all infants in a geographic area be tested.

If the program is targeted to a certain population,

then a sophisticated tracking system must be in

place to carefully monitor program activity. Such a

system should include, at a minimum, the capability to monitor hospital compliance with screening

reg-ulations, ensure that affected infants are receiving health care, assess the quality of medical

manage-ment, identify and define infant morbidity and

mortality related to disease, ensure that clients with sickle cell trait receive follow-up, and determine the

incidence at birth to estimate the number of new-borns being missed by the screening program. The

inclusion of these elements would help to reduce the number of infants missed and provide valuable

data regarding program performance.

ACKNOWLEDGMENT

This work was supported by a US Department of

Health and Human Services, Maternal and Child Health, block grant, Maternal and Child Health Special

Pro-grams of Regional and National Significance grants

MCJ-131004-01-0 and MCJ-131003-01-0 and the Georgia Department of Human Resources Contract.

We thank the following individuals: Bob Abraham,

Herman Harris, Titus Huisman (Augusta Comprehensive Sickle Cell Center); Louis Elsas (Emory University School of Medicine); Eve Blake, Judy Eubanks (Georgia

Department of Human Resources); Jean Brannan, Jackie Georgia (Sickle Cell Foundation ofGeorgia); Phyllis

Ben-jamin (Grady Memorial Hospital), and members of the

Georgia Sickle Cell Task Force.

860 APPROACHES

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1989;83;858

Pediatrics

Mary S. Harris and James R. Eckman

1981 to 1985