SD27 - A Study of the Feasibility of Adding Congenital Adrenal Hyperplasia to Newborn Screening Tests


Executive Summary:
In 2000 the General Assembly passed SB 699 (introduced by Senator Ticer) to study whether it is feasible and beneficial to add a test for congenital adrenal hyperplasia (CAH) to the newborn screening tests required of birthing hospitals and health care providers. The Newborn Screening Subcommittee of the Genetics Advisory Board, composed of endocrinologists from four regions of the state and representatives from the Department of General Services, Division of Consolidated Laboratory Services (DCLS), and the Virginia Department of Health (VDH) determined the methodology for this study. VDH conducted a literature review and surveys of pediatric endocrinologists, laboratories and parents of children with CAH. VDH also estimated the cost of adding a test for CAH to the current battery of tests. This study differed from one undertaken by VDH in 1998 because this bill requested the Commissioner to consult with parents of affected children.

CAH is an autosomal recessive genetic disease that causes an enzyme deficiency (most commonly 21-hydroxylase) resulting in an excess of adrenal androgenic hormone production and the inability of the adrenal glands to make other hormones necessary to maintain life. CAH is a continuum of disorders rather than distinct subtypes, which may produce life-threatening complications and incorrect sex assignments on one extreme, or few symptoms and no physical signs on the other. Treatment regimens vary depending on its place on the continuum. The more serious or "classic" forms of CAH may result in high mortality and morbidity if undetected, and can be treated effectively after diagnosis. For these reasons, it appears to be a good candidate for newborn screening.

Each component of the newborn screening program would need to be examined in order to perform comprehensive cost benefit analysis, i.e., screening, initial referral, diagnosis, treatment and follow-up and program evaluation/quality assurance. Several studies have indicated the cost benefit of screening for PKU (similar in incidence to CAR), but no cost benefit analysis of adding CAH to the newborn screening battery of tests has been conducted. However, another approach that has merit is comparing the cost of the doing the screening to doing nothing as. a way to assess the cost of morbidity caused by the disease.

In 1988, the US Congress Office of Technology Assessment (OTA) published a review of the effectiveness and costs of newborn screening as compared to no screening. The study included the basic approach, which analyzed the cost of comprehensive screening program for phenylketonuria and hypothyroidism. The OTA analyses concluded that the net health care savings per 100,000 infants screened (using 1996 dollars) was $3.2 million, and that the net health savings per case detected and treated was $93,000. A study by the Texas Department of Health, who has a universal screening program, estimated the cost of diagnosing the six infants found with CAH at $691,000 (1994).

The cost of adding CAH to the newborn screening program includes DCLS; the cost of new instrumentation and reagents ($400,000/year); design, deployment and training on a new newborn screening request form to accompany each newborn sample ($30,000 first year); DCLS staff costs ($140,000), including laboratory technicians and clerical support; and VDH staff costs, nurse for coordination and patient follow-up, and program support technician ($40,000). The total first year cost is $620,000 and ongoing costs are $590,000.

The newborn screening program is funded by fees charged for sample collection kits purchased by providers in hospitals. The costs of adding a CAH kit would be incurred by the NBS Enterprise Fund and would result in an increase in the price per test from the current charge of $16 to $21.

Determining whether adding CAH is cost effective requires an assessment of the many factors that contribute to cost of the disease for parents, the health care system, and taxpayers. Many of the costs are not quantifiable or are difficult to estimate. Therefore, this analysis does not include costs to the family such as transportation to doctor appointments, time missed from work, or the cost of stress and trauma that result from a false positive, medical emergency or infant death. The major direct costs are physician visits, laboratory and hospital costs, including emergency room visits. Estimates on outpatient care from the Texas program and length of stay and hospital costs from Virginia Hospital Information were used to determine costs for Virginia. Using the range of incidence of 1 in 7,000 reported Virginia births versus 1 in 15,000 national births or 6 to 14 cases per year in Virginia, the total direct cost savings estimated to add CAH to newborn screening tests would be approximately $40,128 to $93,632. This calculation does not include that occasional child who is hospitalized and incurs catastrophic expenses.

Given limitations of the data on the cost effectiveness of adding CAH and the absence of specific national guidelines for cost analysis, the Genetics Advisory Board and VDH focused on whether CAH met accepted national criteria for adding newborn screening tests. It also considered the incidence of CAH, current practice in other states, the results of physician and parent surveys, insights from the literature, and the personnel and equipment costs associated with adding the test, in determining whether CAH should be added to the newborn screening tests in Virginia.

The survey of the pediatric endocrinologists showed that two to three percent of the classic CAH patients followed in Virginia were not diagnosed in the newborn period. The survey shows that 14 out of 96,000 live births were diagnosed, resulting in an incidence of 1 in 7000, which is twice the national rate for CAH. A review of birth records also found that there have been no reported deaths due to CAH in the last 10 years. Surveys of endocrinologists suggest there are at least 96 patients in Virginia living with CAR.

The state survey by the American Public Health Laboratories (APHL) found that 17 states are screening for CAH; that the average cost for these screens range from 40 cents to three dollars per test; and that the rate of case finding varies from 5 to 11 cases in 100,000 live births.

SB 699 asked for input from parents of children diagnosed with CAH. Not surprisingly, the parents who replied to the survey are supportive of adding CAR to the battery of newborn screening tests." Parents reported that pediatricians needed more education about this condition so that they can quickly recognize symptoms and make referrals to endocrinologists and parent support groups. Many parents reported their child narrowly escaped death because a sudden adrenal crisis was not recognized as such by physicians treating their baby.

There are two policy options to consider in determining whether VDH should add CAR to the newborn screening program.

• One policy option is to amend the Virginia Code 32.1-65 to add CAH to those tests currently performed by the Virginia Newborn Screening Program.

Classic CAH meets all of the national criteria for a newborn screening program because it is a reliable, efficient screening test; it is associated with high incidence of illness and life threatening if undetected; and there is an effective treatment to minimize morbidity and mortality. This option would require an additional $620,000 in the first year and $590,000 per year. This cost would be covered by the Newborn Screening Enterprise Fund by increasing the fee per newborn sample from $16 to $21.

• Another policy option is to not add CAR to the newborn screening program at this time.

The cost analysis demonstrates that adding this test may cost more than the cost of identifying these children, as they become ill. There have been no reported deaths due to this condition in ten years and estimated health care costs are less when compared to the cost of establishing and maintaining the CAB newborn screening program. There are no new costs associated with this option.