The value of diagnostic testing for parents of children with rare genetic diseases

Abstract

Purpose: Exome sequencing (ES) can rapidly identify disease-causing variantsresponsible for rare, single-gene diseases, and potentially reduce the durationof the diagnostic odyssey. Our study examines how parents and families valueES. Methods: We developed a discrete choice experiment (DCE) survey that wasadministered to parents of children with rare diseases. The DCE included 14choice tasks with 6 attributes and 3 alternatives. A valuation-space model wasused to estimate willingness to pay, willingness to wait for test results, andminimum acceptable chance of a diagnosis for changes in each attribute. Results: There were n = 319 respondents ofwhom 89% reported their child had genetic testing, and 66% reported their childhad a diagnosis. Twenty-six percent reported that their child had been offeredES. Parents were willing to pay CAD$6590 (US$4943), wait 5.2 years to obtaindiagnostic test results, and accept a reduction of 3.1% in the chance of adiagnosis for ES compared with operative procedures. Conclusion: Timely access to ES could reduce the diagnostic odyssey andassociated costs. Before ES is incorporated routinely into care for patientswith rare diseases in Canada and more broadly, there must be a clearunderstanding of its value to patients and families.