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Rapid Genome Sequencing: Consent for New Technologies in Neonatal Intensive Care

November 30, 2022

How much information needs to be disclosed to obtain informed consent and how should clinicians proceed if consent cannot be obtained? These are the challenging questions raised by the Pediatrics Ethics Rounds article (10.1542/peds.2022-058222) being early released this week.

The case involves a newborn, “Saria”, who develops intractable seizures on her first day of life. Having excluded infection and intracerebral hemorrhage, Saria’s providers believe that rapid genome sequencing (rGS) would be beneficial to evaluate for epileptic encephalopathy. rGS has the potential for identifying a diagnosis that is treatable or one that might lead to the withdrawal of life-sustaining treatment. Given the novelty and complexity of this technology, pre-test counseling for rGS generally requires 20-40 minutes and covers topics such as discovery of variants of uncertain significance and incidental findings. 

Unfortunately, neither of Saria’s parents are available to participate in this counseling and provide informed consent. Her mother has severe post-partum depression with psychosis and was admitted involuntarily to a psychiatric unit and her father is consumed by caring for his wife and two older children. If you were Saria’s attending physician, what would you do? 

The decision depends in part on the relative benefits and risks of rGS. Do the potential benefits of testing sufficiently outweigh the risks that consent can be presumed? Can the testing be performed in a way, for example, without returning incidental findings, to reduce the risks? The decision is also based on how we understand autonomy. What is the minimum that one must understand about testing to provide informed consent, or can one waive receiving additional information?

What do you think? Does this case look different to you if you are an emergency medicine physician who is used to treating patients under presumed consent or a medical geneticist who routinely hears parents’ misperceptions about genes? Read the full article to learn more and discuss your insights with your colleagues.

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