Conceptual issues for screening in the genomic era – time for an update?

screening from clinical testing remains strangely elusive. Although numerous definitions of screening have been suggested, there is considerable variation amongst them, leading to confusion and disagreement amongst clinicians and public health professionals alike. In light of developments in genomics, we emphasise the need to differentiate between opportunistic screening and clinical testing because of the differing prior probability of disease and thus ethical burden of responsibility placed upon the physician in each scenario. Screening requires higher standards, first because screening tests are performed in asymptomatic individuals, and second because these tests are generally offered to individuals who otherwise believe themselves to be healthy. All the other characteristics commonly invoked to describe screening – including the systematic use of a rapid test for risk stratification within a particular population – can be better categorised as either practical requirements or by-products of screening programmes rather than screening tests. Physicians need to appreciate the shifting moral burden placed upon them relating to clinical testing versus screening, and the differing legal obligations that may ensue

Recommendations for returning genomic incidental findings? We need to talk!

The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines