In summary, the Working Group has recommended that when a report is issued for clinically indicated exome and genome sequencing, a minimum list of conditions, genes and variants should be routinely evaluated and reported to the ordering clinician who can place them into the context of that patient’s medical and family history, physical examination and other laboratory testing. We have recommended that these findings be reported without seeking preferences from the patient and family and without limitation due to the patient’s age. In this, we attempt to strike a balance between the positions of genetic libertarians and the genetic empiricists, guided by the currently available scientific literature, clinical experience, the consensus of our Working Group members and the traditions of clinical medicine. The Working Group recognizes that this list should, and will, evolve as further empirical data are collected on the actual penetrance of these variants, and on the health benefits and costs that might follow from their disclosure as incidental findings.
