Watchful waiting refers to a policy of taking no immediate action with respect to a situation or course of events but of following its development intently. Different areas in medicine employ watchful waiting and have found it not to impact patient outcome in select situations. Given the increased availability, genetic testing is often requested early in a patient’s presentation. However, genetic conditions and our ability to understand and diagnose them frequently evolve over time. Early investigation may result in increased cost due to repeated application of non-targeted testing, with concomitant increased likelihood of detecting variants of uncertain significance, as well as poorer result interpretation for reports reliant on complete phenotyping. When the phenotype is incomplete or unclear, and there are no red flags, such as deteriorating patient status, potential for change in management, or information necessary for timely reproductive counseling, watchful waiting may be appropriate.
Sources:
Allanson et al. J Craniofac Genet Dev Biol. Time and natural history: the changing face. 1989;9(1):21-8. PMID: 2793999.
Baynam et al. Phenotyping: targeting genotype’s rich cousin for diagnosis. J Paediatr Child Health. 2015 Apr;51(4):381-6. PMID: 25109851.
Galia et al. Whole body magnetic resonance in indolent lymphomas under watchful waiting: The time is now. Eur Radio. 2018 Mar;28(3):1187-1193. PMID: 29018927.
Lieberthal et al. The diagnosis and management of acute otitis media. Pediatrics. 2013 Mar;131(3):e964-99. PMID: 23439909.
Reistrup et al. Watchful waiting vs repair for asymptomatic or minimally symptomatic inguinal hernia in men: a systematic review. Hernia. 2021 Oct;25(5):1121-1128. PMID: 32910297.
Rittenmeyer et al. The experience of adults who choose watchful waiting or active surveillance as an approach to medical treatment: a qualitative systematic review. JBI Database System Rev Implement 2016 Feb;14(2):174-255. PMID: 27536798.
Vissers et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017 Sep;19(9):1055-1063. PMID: 28333917.