Health utilities and parental quality of life effects for three rare conditions tested in newborns

BACKGROUND: Measurement of health utilities is required for economic evaluations. Few studies have evaluated health utilities for rare conditions; even fewer have incorporated disutility that may be experienced by caregivers. This study aimed to (1) estimate health utilities for three rare conditions currently recommended for newborn screening at the state or federal level, and (2) estimate the disutility, or spillover, experienced by parents of patients diagnosed with a rare, heritable disorder. METHODS: A stated-preference survey using a time trade-off approach elicited health utilities for Krabbe disease, phenylketonuria, and Pompe disease at varying stages (mild, moderate, severe) and onset of disease symptoms (infancy, childhood, and adulthood). We recruited respondents from a nationally representative community sample (n = 862). Respondents valued disease specific health states in three consecutive question frames: (1) adult health state (> = 18 years of age), (2) child health state (< 18 years of age), and (3) as a parent of a child with a condition (parent spillover state). Corresponding mean utilities were calculated for plausible disease states in adulthood and childhood. Mean disutility was estimated for parental spillover. Predictors of utilities were evaluated using a negative binomial regression model. RESULTS: More severe conditions and infant health states received lower estimated utility and greater estimated disutility among parents. Conditions with the lowest estimated health utilities were severe infantile Pompe disease (0.40, CI: 0.34–0.46) and infantile Krabbe disease (0.37, CI: 0.32–0.43). Disutility was evident for all conditions evaluated (range: 0.07–0.19). CONCLUSIONS: Rare childhood conditions are associated with substantial estimated losses in quality of life. Evidence of disutility among parents further warrants the inclusion of spillover effects in cost-effectiveness analyses. Continued research is needed to assess and measure the effects of childhood disease from a family perspective. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s41687-019-0093-6) contains supplementary material, which is available to authorized users.