A systematic review has been published in the Orphanet Journal of Rare Diseases, synthesising the current literature on preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases. Overall, the authors found that generally favourable attitudes towards gNBS are reported. In particular, the most important perceived benefit of gNBS was the possibility for early intervention to reduce the burden of the diagnostic odyssey. Several key barriers to implementing gNBS were also identified, notably the stress and risk associated with false results and dealing with uncertainty, psychosocial implications, and misunderstandings due to lack of education or communication. Overall, these findings can support future efforts to implement gNBS, as well as informing awareness-raising and patient education activities.
(source: OrphaNews 27 February 2026)