Economic evaluation of tandem mass spectrometry newborn screening in Australia.

OBJECTIVE: The goal was to investigate the cost-effectiveness of tandem mass spectrometry screening for the detection of inborn metabolic errors in an Australian setting. METHODS: Cost-effectiveness analysis from the health service perspective was undertaken on the basis of registry data for affected individuals. The intervention group was contrasted with both a contemporaneous group in nonscreening states and a historical cohort. The registry covers all individuals identified in Australia between 1994 and 2002. Main outcome measures were the total net cost of screening, the cost of treatment, life-years saved, and deaths averted. RESULTS: The total net cost of testing was estimated to be A$218 000 per 100 000 infants. Medical costs incurred by the intervention group exceeded those for the control group by A$131 000 per 100 000 infants. The number of life-years saved per 100 000 infants screened was 32.378 life-years per 100 000 infants through an expected mortality rate reduction of 0.738 deaths per 100 000 infants. The cost per death averted was estimated to be A$472 913 and the cost per life-year saved was estimated to be A$10 779, which compare favorably with existing cost-effectiveness standards. This conclusion is particularly robust because conservative assumptions were made throughout, because of data limitations. Sensitivity analyses suggested that this result was relatively robust to adjustment of model parameters. CONCLUSIONS: Tandem mass spectrometry screening for conditions caused by rare errors of metabolism is likely to be a cost-effective intervention in Australia.

Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening.

OBJECTIVE: To describe and analyze the use and costs of hospital services for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency either with newborn screening or clinical diagnosis in Australia between 1994 and 2002. MCAD deficiency is a potentially lethal disorder of fatty-acid oxidation. STUDY DESIGN: We conducted a retrospective audit of medical records supplemented by a parental survey. RESULTS: A total of 59 children with MCAD deficiency were identified, 24 by using newborn screening. In the first 4 years of life, screening children cost an average of A$1676 (US$1297) per year for inpatient, emergency department, and outpatient visits, compared with A$1796 (US$1390) for children in whom a clinical diagnosis was made. Forty-two percent of the children who underwent screening were admitted to the hospital, compared with 71% of children who did not undergo screening. Children who did not undergo screening used significantly more inpatient services and cost significantly more in emergency services. There were also some significant differences in use on a year-by-year basis. CONCLUSIONS: Children who do not undergo screening may be more likely to be admitted to the hospital and to incur higher emergency department costs than children who underwent screening, and children seem more likely to attend hospital outpatient clinics. Screening does not result in higher costs from a hospital perspective.

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the disorder thought most to justify neonatal screening by tandem-mass spectrometry because, without screening, there seems to be substantial morbidity and mortality. Our aim was to assess the overall effectiveness of neonatal screening for MCAD deficiency in Australia. METHODS: We identified MCAD-deficient patients from a total population of 2,495,000 Australian neonates (810,000 screened) born between April 1, 1994, and March 31, 2004. Those from a cohort of 1,995,000 (460,000 screened) were followed up for at least 4 years, and we recorded number of deaths and severe episodes, medical and neuropsychological outcome, and hospital admissions within the screened and unscreened groups. FINDINGS: In cohorts aged at least 4 years there were 35 MCAD-deficient patients in those not screened (2.28 per 100,000 total population) and 24 in the screened population (5.2 per 100,000). We estimated that patients with this disorder in the unscreened cohort remained undiagnosed. Before 4 years of age, three screened patients had an episode of severe decompensation (including one neonatal death) versus 23 unscreened patients (including five deaths). At the most conservative estimate, relative risk of an adverse event was 0.44 (95% CI 0.13-1.45). In the larger cohort the relative risk (screened vs unscreened) of an adverse event by age 2 years was 0.26 (95% CI 0.07-0.97), also a conservative estimate. 38 of 52 living patients had neuropsychological testing, with no suggestions of significant differences in general cognitive outcome between the groups. INTERPRETATION: Screening is effective in patients with MCAD deficiency since early diagnosis reduces deaths and severe adverse events in children up to the age of 4 years.

The individual and health sector costs of asthma: the first year of a longitudinal study in New South Wales.

OBJECTIVE: To identify the resources used and the costs incurred by people with asthma for health care and non-health care products and services to manage asthma. METHODS: A prospective, longitudinal study, using self-reported and administrative data, commenced in 2001 in New South Wales (NSW). Data sources included two six-monthly surveys, hospital admission data from NSW Health, and pharmaceutical benefits and Medicare data. A cohort of 245 people with asthma, aged between 5-75 years, was recruited from the general population and from hospital emergency departments. The study measured the use and cost of health care services and products, including alternative therapies and home modifications. Costs to both the health care system and individuals were measured. RESULTS: General practitioner visits and asthma medications were the items of health care most commonly used. Medications were also the largest component of individual costs for health care in terms of the average payment and the number of people facing an out-of-pocket cost, although home equipment and modifications were the most expensive individual items. The distribution of individual costs was highly skewed, ranging from dollar 0 to dollar 4,882 per person per annum (median dollar 89). Admitted hospital care was the largest component of the cost to the health care system. CONCLUSION: While individual costs were not large for the majority, some people faced substantial costs, with the highest of these being for non-health care items. IMPLICATIONS: Asthma management policies may need to incorporate schemes to alleviate the impact of costs for the minority experiencing significant out-of-pocket expenses.