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Evidence · Research paper

Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease.

Research paperGenetics in Medicine Open2025Full text
  • Cardiovascular
  • Communicating with families
  • Congenital heart disease
  • End-of-life care
  • Medical
  • Professional practice

Summary

A US vignette-based survey of 202 cardiologists, cardiac surgeons, neonatologists and intensivists examining how genomic sequencing results influence treatment recommendations for critically ill children with congenital heart disease. Results predicting intellectual disability, autism or a childhood cancer syndrome independently reduced physicians' likelihood of recommending surgical palliation, ECMO or transplantation. The authors highlight the ethical implications of genomic information shaping decisions to forego or withdraw treatment. This is research rather than clinical guidance, but touches on decision-making and end-of-life discussions relevant to cardiac PICU practice.

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Open (Creative Commons)

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