Population-Based Universal Screening for Lynch Syndrome: Ready, Set… How?
Menée sur une cohorte de 245 patients atteints d'un cancer colorectal présentant une déficience des gènes de réparation des mésappariements de l'ADN (âge moyen : 72,5 ans ; 64% de femmes), cette étude évalue la proportion de patients acceptant de subir un test génétique d'identification de mutations germinales associées au syndrome de Lynch et analyse l'efficacité potentielle d'une stratégie de dépistage systématique
Although the fields of health care and public health have many evidence-based innovations, the failure to implement health interventions that have been rigorously demonstrated to be cost effective hampers health care delivery.1,2 The identification of individuals who are at increased risk of hereditary cancer allows for the possibility of heightened surveillance and early cancer detection, resulting in decreased disease-specific mortality.3 Such data-driven identification and risk stratification to guide management is one of the foundations of value-based health care delivery.4 However, it is not always easy to identify those in the general population who may be at increased risk. As clinicians, we rely on our collective observations and clinical acumen to identify patients with observed clinical red flags that signal heritable cancers. However, clinical criteria may not be optimal, either because it is not sufficiently sensitive or because of a lack of clinical utility in a public health setting.
Journal of Clinical Oncology , éditorial en libre accès, 2013