Whole exome sequencing is rapidly intruding into all areas of diagnostic medicine, particularly in pediatrics. Whole exome sequencing is sequencing of only the gene coding areas of the whole genome (about 1%). The rapidly reducing cost of this type of sequencing is moving such testing from its prior confinement in the research lab to become an extremely useful clinical tool. By performing whole exome sequencing genotypic defects are being discovered that explain heretofore unexplained phenotypic finding. An unavoidable byproduct of this new technology is additional information about the patient’s genetically directed future. The implications related to the uncovering of this information are Orwellian. Solomon et al. (doi: 10.1542/peds.2011-0080) working at the Genetics branch of National Human Genome Research Institute and publishing in the June issue of Pediatrics case report section, present an illustrative case but more importantly provide a set of “ground rules” on how this genetic information should be handled, specifically how much of this “by product” information should be returned to the patient and what information should be expunged from the medical (and any other) record. The ethical issues demonstrated in this case report will only become more and more difficult to deal with as the genetic sciences continue their rapid advance. Solomon laudably wants to be sure BIG BROTHER isn’t watching. I worry about who is overseeing BIG BROTHER.
Wednesday, May 16, 2012
Posted by Dr. Lewis R. First at 12:01 AM