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Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students

BMJ (recent)

Background
With the potential to identify a vast number of rare diseases soon after birth, genomic newborn screening (gNBS) could facilitate earlier interventions and improve health outcomes. Designing a gNBS programme will involve balancing stakeholders’ opinions and addressing concerns. The views of medical students—future clinicians who would deliver gNBS—have not yet been explored.

Methods
We conducted a nationwide online survey of UK medical students via the REDCap platform. Perceptions of gNBS, including scope of testing and potential benefits and drawbacks, were explored using a mix of multiple-choice questions, Likert scales, visual analogue scales and free-text questions.

Results
In total, 116 medical students across 16 universities participated. Overall, 45% supported gNBS, with a positively skewed mean support score of 3.24 (SD 1.26, range: 1.0–5.0), and 55% felt it relevant to their future practice. Almost all agreed that infant-onset and childhood-onset diseases and conditions with effective treatments should be included. Most felt that earlier interventions and personalised care would be the most important benefit of gNBS. Other perceived benefits included earlier diagnoses, diagnosing more patients and enabling research for new treatments. However, several perceived challenges were highlighted: risk of genomic discrimination, incidental or uncertain findings, data security and breaching children’s future autonomy. Students expressed conflicting opinions on the psychological impact on families, but most were concerned about a lack of support due to current resource limitations in health services. Students frequently reported having insufficient knowledge to form an opinion, which may reflect gaps in genomics education at medical school and the current lack of evidence base for gNBS.

Conclusion
Although some support for gNBS was demonstrated, ethicolegal and social challenges were raised, emphasising a need for ongoing discussions about the implications of gNBS.

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Settembre 2024

Interventions to Increase Follow-Up of Abnormal Stool-Based Colorectal Cancer Screening Tests in Safety Net Settings: A Systematic Review

Gastroenteology

Colorectal cancer (CRC) is the second leading cause of cancer deaths in the United States. Despite evidence that screening effectively reduces incidence and mortality, screening is suboptimal, especially in safety net healthcare systems and federally qualified health centers (FQHCs). Safety net healthcare systems represent 25% of U.S. hospitals and are defined as hospitals that organize and deliver a significant level of healthcare and other related services to individuals without insurance, receiving Medicaid, and other vulnerable patients.

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Settembre 2024
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