Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions

Research output: Contribution to journalArticle


Whole-genome sequencing (WGS) is being applied within research settings across Europe to develop genomic WGS-based diagnostic tests. The focus of this perspective paper is to describe if, and how, current approaches of health technology assessment could be applied to WGS-based diagnostic tests. This perspective draws on the collective view from a trans-European multidisciplinary consortium of methodologists,
clinicians and scientists. Specific challenges can be described by using the PICO
(population, intervention, comparator, outcome) framework to inform health
technology assessment. Practical solutions are suggested which require joined-up, multidisciplinary working across healthcare systems using existing expert networks so that emergent issues for the health technology assessment of WGS can be met in
a timely fashion.

Bibliographical metadata

Original languageEnglish
Pages (from-to)235-247
JournalPersonalized Medicine
Issue number3
Early online date5 May 2017
Publication statusPublished - 2017