Increasingly, whole-genome sequencing of individuals is being done to help identify and treat medical conditions. Genome sequencing invariably identifies a number of variations, some common and some rare, that might be clinically relevant. For example, suppose a person had their genome sequenced to help determine their risk for cardiovascular disease and, just by chance, the sequence revealed that they carry one or more variants that predispose them to cancer or Alzheimer disease. Does the sequencing laboratory or physician have an obligation to report this finding, which was not the purpose of the sequencing and which the patient did not request? What about reporting variants for which no or limited information can be provided about their clinical significance? Does the answer to this question differ for sequencing done on children?
Increasingly, whole-genome sequencing of individuals is being done
to help identify and treat medical conditions. Genome sequencing
invariably identifies a number of variations, some common and some
rare, that might be clinically relevant. For example, suppose a person
had their genome sequenced to help determine their risk for
cardiovascular disease and, just by chance, the sequence revealed that
they carry one or more variants that predispose them to cancer or
Alzheimer disease. Does the sequencing laboratory or physician have
an obligation to report this finding, which was not the purpose of the
sequencing and which the patient did not request? What about
reporting variants for which no or limited information can be provided
about their clinical significance? Does the answer to this question
differ for sequencing done on children?
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