Academic journal article Iranian Journal of Public Health

Neonatal Screening: Cost-Utility Analysis for Galactosemia

Academic journal article Iranian Journal of Public Health

Neonatal Screening: Cost-Utility Analysis for Galactosemia

Article excerpt


Genetic and congenital abnormalities are major factors in prenatal and neonatal mortalities (1). Each year, approximately 7.6 million children with severe congenital or genetic abnormalities are born; 90% of which occurs in low-income countries (2). Galactosemia is a genetic disorder with 25% chance of occurrence in the first-born child. This disease is caused by deficiency in galactose 1-phosphate enzyme that leads to metabolic disorder of galactose (3-6). Even though, its prevalence in Iran is relatively unknown but in Fars province it is 5:24000 (4,7).

Infants with this condition are usually born without any signs and symptoms. They will begin to emerge after breastfeeding (8, 9). The early symptoms include poor nutrition, jaundice, vomiting, and convulsion. In long-term, liver and kidney problems, cataracts, heart diseases, infections, neurological disorders, and ovarian dysfunction will appear (5, 10-13).

Early diagnosis in neonatal period, accompanied with galactose free diet can help to prevent longterm complications (14). Hence, the most important step in preventing and treating a patient suffering from metabolic disorders is its early diagnosis (15, 16). Through screening process, a patient is diagnosed with a simple and inexpensive test and in entered into treatment cycle (15).

World Health Organization (WHO) has emphasized on implementing preventive programs for genetic and congenital diseases in low-income and middle-income countries (17). Therefore, newborn screening should be considered as a priority in developing countries (18). Fortunately, neonatal screening is being implemented in most developed countries, while is growing in developing countries (19-21). According to each country condition, different tests are used (22). Neonatal screening for galactosemia is primarily aimed to diagnose clinical galactosemia (23). There are several tests available for it (19), and the simplest way is through urine (14).

Nowadays, many countries have delayed or ignored many important programs including screening (19). This is related to lack of resources, soaring health care costs and financing problem in health systems. Due to its important economic aspect, policymakers should pay more attention to allocate adequate budget for health services (24).

Therefore, selecting an appropriate method with high level of effectiveness and lower cost is essential (25). The cost-utility analysis is one of the most appropriate techniques for economic evaluation; it considers life expectancy as well as quality of life. Use of these techniques in healthcare domain can provide an alternative solution for policy-makers (1, 26, 27).

To implement a program in macro level when there is no evidence available, at first a pilot project should be conducted, to be analyzed and then applied (28). In 2004, neonatal screening program was launched in Iran (29). Unfortunately, there is no confirmed study on the subject of galactosemia screening cost-utility in Iran. Hence, we have decided to analyze it by comparing cost per unit of utility in the city of Shiraz, Iran in 2010.

Materials & Methods

This is a cross-sectional and an economic evaluation study. The population of study was 81837 infants referred to Neonatal Screening Laboratory (Nader Kazemi Clinic) affiliated to Shiraz University of Medical Sciences (SUMS), Iran, in 2010.

We applied the decision tree model. The first step was to define accurately our objective. The next step was to increase the population by determining the possibilities. Finally, costs and outputs of each path were estimated. Fig. 1 shows the decision tree model for galactosemia screening.

Cost analysis

Data was collected based on society's viewpoint. This viewpoint determines costs should be taken into account. Based on patient's viewpoint, we have just calculated only the direct costs. Other indirect and intangible costs were not taken into consideration. …

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