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Answers and Questions

Whole-exome and whole-genome sequencing raise a number of possibilities, but also questions for use in the clinic. While neither technique is yet a routine diagnostic tool, Jeantine Lunshof from VU University writes in Personalized Medicine that emergencies can speed the introduction of new techniques into medical care, but that there are a number of ethical issue to consider, particularly when the patient is a child.

Lunshof recalls the example of a boy whose exome was sequenced by a team at the Medical College of Wisconsin to pin down the source of the boy's bowel disease. In that case, the Wisconsin team noted a number of ethical issues, not the least of which learning about "'off-target' results" from the reams of data generated and what to tell patients or their parents.

"From the ethical, legal and psychological point of view, WGS/WES in children is particularly interesting because areas of long-standing hot debate converge: children as research participants, genetic testing in children for clinical purposes, returning results to patients/study participants, and the major issue of generating predictive information," Lunshof writes. The Wisconsin team, she notes, developed a plan in conjunction with the patient's parents on what information to share.

Such issues will only increase, she adds, as prenatal diagnostics using whole-exome or whole-genome sequencing become more feasible.

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