Inclusion and use of ethical analysis in health technology assessment reports relevant to genomic newborn screening.

Abstract

Objectives: Advances in the use of genomic technologies in newborn bloodspot screening (NBS) raise ethical challenges that should be systematically and critically considered. We examine how ethical analyses have been incorporated into health technology assessments (HTA) relevant to genomic NBS to inform how ethics might be incorporated in Australian HTAs of genomic NBS.

Methods: We conducted an inductive content analysis of publicly available HTA reports and summaries relevant to genomic NBS published between January 2013 and June 2023 across 18 countries. Eligible reports related to genetic or genomic testing or population screening. These reports were screened for inclusion of ethical considerations and coded with NVivo for their presence, structure, and reported influence on decision making. Twelve reports with substantial ethical discussion were examined in-depth through qualitative thematic analysis.

Results: One hundred and ninety reports met our inclusion criteria, with Spain, Australia, and the United Kingdom heavily represented. Ethics was mentioned in 39 percent of reports, and ethical analysis appeared to influence recommendations in 13 percent. When present, ethical considerations focused on equity, harm, and autonomy. Consideration of ethical issues was mostly unstructured, descriptive, and lacked normative conclusions.

Conclusions: Although a range of ethical considerations were raised in the HTA reports relevant to genomic NBS, ethical analyses were generally inconsistently applied or reported, and the way in which ethics has influenced HTA recommendations was not always clear. Further work is needed to understand how the role of ethics in Australian HTAs of genomic NBS could be strengthened to ensure ethically defensible decisions.