ABSTRACT
Screening for early esophageal adenocarcinoma (EAC), including screening for its precursor Barrett's esophagus (BE), has the potential to reduce EAC-related mortality and morbidity. This literature review aimed to explore professionals' views on the justification for EAC screening. A systematic search of Ovid Medline, EMBASE, and PsycInfo, from January 1, 2000 to September 22, 2022, identified 5 original studies and 63 expert opinion articles reporting professionals' perspectives on EAC screening. Included articles were qualitatively analyzed using the framework method, which was deductively led by modernized screening principles. The analyses showed that many professionals are optimistic about technological advancements in BE detection and treatment. However, views on whether the societal burden of EAC merits screening were contradictory. In addition, knowledge of the long-term benefits and risks of EAC screening is still considered insufficient. There is no consensus on who to screen, how often to screen, which screening test to use, and how to manage non-dysplastic BE. Professionals further point out the need to develop technology that facilitates automated test sample processing and public education strategies that avoid causing disproportionately high cancer worry and social stigma. In conclusion, modernized screening principles are currently insufficiently fulfilled to justify widespread screening for EAC. Results from future clinical screening trials and risk prediction modeling studies may shift professionals' thoughts regarding justification for EAC screening.
ABSTRACT
BACKGROUND: The introduction of next-generation sequencing into the diagnosis of neuromuscular disorders has resulted in an increased number of newly identified RYR1 variants. The hypothesis was that there is an increased referral of patients to malignant hyperthermia units without a personal/family history of adverse anesthetic events suspected to be malignant hyperthermia. This retrospective multicenter cohort study evaluates patient referral indications and outcomes for those without a history of an adverse anesthetic event. METHODS: Patients referred between 2010 and 2019 to the malignant hyperthermia units in Antwerp, Belgium; Lund, Sweden; Nijmegen, The Netherlands; and Toronto, Ontario, Canada were included. Previously tested patients and relatives of previously tested patients were excluded. Data collection included demographics, referral details, muscle contracture, and genetic testing results including Rare Exome Variant Ensemble Learner scores. Referral indications were categorized into those with a personal/family history of adverse anesthetic event and other indications including exertional and/or recurrent rhabdomyolysis, RYR1 variant(s) detected in diagnostic testing in the neuromuscular clinic without a specific diagnosis (in a family member), diagnosed RYR1-related myopathy (in a family member), idiopathically elevated resting creatine kinase values, exertional heat stroke, and other. RESULTS: A total of 520 medical records were included, with the three most frequent referral indications as follows: personal history of an adverse anesthetic event (211 of 520; 40.6%), family history of an adverse anesthetic event (115 of 520; 22.1%), and exertional and/or recurrent rhabdomyolysis (46 of 520; 8.8%). The proportion of patients referred without a personal/family history of an adverse anesthetic event increased to 43.6% (133 of 305) between 2015 and 2019 compared to 28.4% (61 of 215) in 2010 to 2014 (P < 0.001). Patients with a personal/family history of an adverse anesthetic event were more frequently diagnosed as malignant hyperthermia-susceptible (133 of 220; 60.5%) than those without (47 of 120; 39.2%; P < 0.001). Due to missing data, 180 medical records were excluded. CONCLUSIONS: The proportion of patients referred to malignant hyperthermia units without a personal/family history of an adverse anesthetic event has increased, with 39.2% (47 of 120) diagnosed as malignant hyperthermia-susceptible.
