Opening Pandora’s Box : ethical uncertainty surrounding the handling of incidental findings generated in genomic sequencing

As whole-genome and whole-exome sequencing techniques become more accessible, their application within both medical research and clinical practice has significantly increased. This hasled to substantial gains in our knowledge surrounding the genetic components of disease,pathogenesis, and prognosis. This, in turn, has allowed us to develop targeted treatments, with theultimate goal of improving patients’ outcomes.However, as with everything within the fieldof medicine, each intervention comes with somerisk. In the case of genomics, this is in the form ofso-called incidental findings. Incidental findingsare not a new concept in medicine; however, dueto the nature of genomic information, this one investigative test has the potential to reveal hugequantities of unwarranted information about patients, their future health risks, as well as possiblerisks to genetic relatives. In addition to health-related findings, sequencing may also lead to significant revelations around biological parenthoodof both patients and their offspring.This leads to difficult questions for clinicians:Do we inform patients, or not? This is further complicated when a patient does not consent to receive additional results, but the clinician finds aneasily treatable but otherwise life-limiting finding. Such cases call to question the validity of traditional approaches to beneficence, autonomy, andconsent, with some ethicists suggesting the principle of solidarity supersedes all other ethical considerations. Such a position has created heateddebate with those who champion individual sovereignty above paternalism.Not only is there little consensus within academic bioethics on the subject, there is little regulatory guidance to help direct doctors in such situations. The complexity of these findings leads tosignificant uncertainty for both clinicians and researchers, in an area which is only going to growin the future