New systematic review: Access & attitudes to genetic newborn screening for rare diseases
Genetic newborn screening is generally perceived positively, but there are some lingering tensions.
Genetic screening of newborns can identify a wide range of conditions, some of which are severe. A new systematic review describes the reasons behind differences in access and attitudes to newborn screening in different countries.
Sylvia Martin is associate professor of medical psychology.
Newborn genetic screening can be used to identify a broad range of conditions, some of which are very rare metabolic, endocrine, and genetic disorders. Early detection can lead to significant reductions in infant mortality and prevent long-term complications.
As genomic technology advances, we are becoming better at detecting rare diseases early, improving long-term outcomes. However, not all parents have access to this type of screening. Different countries and health systems have different policy and access to technology.
According to Sylvia Martin, leading the team behind the systematic review, there is a lot of literature on both policy and attitudes related to genetic newborns screening for rare disease. This type of screening is generally perceived in a positive way, because of the potential for early diagnosis and intervention.
The ethical analysis highlights some lingering tension between benefits and harms. These results highlight the need for health care policymakers to address issues of informed consent, privacy and social inequity before implementing large-scale screening programmes.
Parents need to be involved in decisions about screening, and the results show that education and communication are central to parental experience and acceptance. At the same time, lack of training, resources, and confidence among the health care professionals responsible for managing results is often lacking.
According to Sylvia Martin, different rare diseases might require different and disease-specific approaches. Whether parents accept screening or not depends a lot on what can be done if the results indicate that the infant has genetic risk for rare disease opening the debate about “actionability” in these screening programmes.
By Josepine Fernow
Martin, S., Kyosovska-Peshtenska, G., Audi, J. et al. Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022. Orphanet J Rare Dis 21, 27 (2026). DOI: 10.1186/s13023-025-04179-0
Part of international collaborations
This work is part of the Screen4Care project, funded by the Innovative Medicines Initiative, which works to shorten the journey to diagnosis for people living with rare disease.
