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Ethical considerations in whole genome sequencing

2023-05-12

The Swedish Medical Society’s delegation of ethics recently released a statement on the ethical problems associated with Whole Genome Sequencing. The technique has been crucial in identifying the cause of numerous diseases that were previously unknown, and for diagnosis of rare diseases. Whole Genome Sequencing is increasingly used as a diagnostic tool in healthcare to improve diagnosis and treatment. However, the statement draws attention to three ethical problems associated with the use of this technique, namely how to handle secondary findings, unclear findings and informed consent.

The Swedish Medical Society’s delegation of ethics emphasizes the importance of care and caution in the use of whole genome sequencing. The technique involves looking at the entire genome, which implies a risk of finding that are unrelated to the question at hand, so called secondary findings. Receiving information that you had not asked for can lead to unnecessary anxiety for the patient, but also overtreatment. 

Niklas Juth, Professor of Clinical Medical Ethics at Uppsala University and one of the authors behind the statement, emphasises that whole genome sequencing could lead physicians to return information to patients about findings where there is uncertainty about the medical significance. Something that could require extensive healthcare resources. According to Niklas Juth, another important point is related to the fact that if all healthcare, in accordance with the Patient act, is provided with informed consent from the patient, there is a risk that information gained form Whole Genome Sequencing could generate an overwhelming amount of information, leading to information overload for both the patient and physicians. Which in turn will make it challenging for the patient to provide fully informed consent for a particular procedure. In the statement, the Swedish Medical Society acknowledges that this is a complex issue, where more knowledge and research is needed to handle the problem optimally.

The statement is published in Swedish and available to read in full: svenska läkaresällskapet uttalande om etiska frågor kring helgenomsekvensering

By Märta Karlén 

Last modified: 2024-03-19