Abstract
SummaryBackgroundPhenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.MethodsA non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.FindingsThe total OOPCs were USD$3766.1 (0y), USD$3795.2 (1–2 ys), USD$4657.7 (3–4 ys), USD$5979.9 (5–8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0–779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120–250 μmol/L) in 0–4-ys group (r = -0.474, p = 0.026).ConclusionsThe management of PKU is associated with a severe financial burden on patients’ families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.
Highlights
Newborn screening program was introduced to China in 1981, when a pilot plan was developed to demonstrate the feasibility of its implementation (Blau et al 2010; Guthrie and Susi 1963)
After subtracting expenses that were reimbursed by the local governments or newborn screening centers, we found that the remaining total out-of-pocket costs (OOPCs) were USD$3766.1 (0 y), USD$3795.2 (1–2 ys), USD$4657.7 (3–4 ys), USD$5979.9 (5–8 ys), and USD$5588.7 (9 ys and older)
The World Bank has characterized economic burden as a ratio of direct cost to the total annual income of the household, and the burden becomes catastrophic if the ratio exceeds 10.0 % (Prescott 1999; Ranson 2002)
Summary
Newborn screening program was introduced to China in 1981, when a pilot plan was developed to demonstrate the feasibility of its implementation (Blau et al 2010; Guthrie and Susi 1963). By the end of 2009, 179 centers in 30 provinces had conducted newborn screening for phenylketonuria (PKU, OMIM 261600) and congenital hypothyroidism (CH) (Gu et al 2008; Padilla and Therrell 2007; Cao et al 2009; Wang et al 2010). J Inherit Metab Dis (2017) 40:369–376 measures were implemented in 2009 to diminish the geographic differences in the coverage of newborn screening (The technical specification of newborn screening; Mei et al 2013a, b). According to the report of BThe technical specification of newborn screening^, the proportion of screening was 87.98 %(total number of newborn was 16,714,051, the total number of screened was 14,705,320) in 2013
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