Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease.
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PURPOSE: Genomic sequencing (GS) is increasingly part of diagnostic evaluations of children with congenital heart disease (CHD). Past research suggests that clinicians might envision the most immediate benefits of GS to be guidance in decisions regarding withdrawal of care and rationing of scarce resources. This study sought to document whether providing GS information to physicians caring for critically ill children with CHD might lead them to alter recommendations regarding care strategies. METHODS: A probability sample of 202 cardiologists, cardiac surgeons, neonatologists, and critical-care physicians who provide care for critically ill children with CHD in the United States, using the well-established vignette methodology, were randomly assigned different patient scenarios and different genomic information. Physicians then reported their likelihood of recommending particular treatment options for each patient. RESULTS: Of the participating physicians, 98.3% had seen genetic test results, 84.5% had used results when making recommendations regarding clinical care, 67.5% had seen GS results, and 37.9% had used GS results when making treatment recommendations. In the survey experiments, receipt of GS results predicting intellectual disability, autism, or a childhood onset cancer syndrome each independently significantly reduced the likelihood of physicians recommending surgical palliation, extracorporeal membrane oxygenation or heart transplant. CONCLUSION: This survey demonstrates that physicians caring for critically ill children with CHD might be influenced by genomic results when making recommendations about whether to forego or withdraw certain treatment options. This raises important ethical issues that should be considered carefully in the future.