Genetic Screening of Newborns for Rare Diseases Sparks Concerns

IO_AdminUncategorized23 hours ago5 Views

Quick Summary

  • Announcement: UK’s health secretary, Wes Streeting, announced a 10-year plan to incorporate genetic testing for hundreds of rare conditions into newborn screening in England. Similar initiatives are underway in the US and Australia.
  • Objective: The programme aims to prevent disease onset by detecting genetic risks early.
  • concerns raised:

– Genome interpretation is in its infancy, with limited understanding of how genetic variants behave across populations.
– Genetic risk does not universally equate to disease risk; factors like family history and habitat critically influence outcomes (e.g., HNF4A variant’s differing risks based on familial diabetes history).
– Possible overtesting and unnecessary treatments may arise due to unclear or low-risk results.
– Ethical issues include informed consent for large-scale testing on newborns, potential misuse of sensitive genetic data, and psychological implications for families.

  • Criticism from Experts: Neurologist Suzanne O’Sullivan argues that without robust population-based research on gene-disease relationships, such screenings might cause more harm than benefit.

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Indian Opinion Analysis

the proposed newborn screening programme raises critical questions regarding its request amid insufficient scientific evidence about how gene variants correlate with diseases across diverse populations. while proactive genetic testing could save lives by enabling early intervention for severe conditions in certain cases, there is important concern about unintended consequences such as misdiagnoses or overtreatment rooted in speculative science.

for India-where healthcare infrastructure varies greatly-the implication of adopting such programmes would likely require careful deliberation since the ethical concerns raised here resonate globally but could be further complicated by resource limitations locally. Building considerable population-level genomics studies tailored to India’s diverse demographics may provide foundational data necessary before scaling similar initiatives domestically.

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