From the patient to the population: Use of genomics for population screening

Abstract

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.

“There should be one spot that you can go:” BRCA mutation carriers’ perspectives on cancer risk management and a hereditary cancer registry

“…Systematically identifying and tracking carriers of pathogenic cancer mutations are critical given the availability of effective prevention and surveillance strategies and the increasing use of genetic and genomic testing (Burn et al 2020 ; Meiser et al 2022). Traditional approaches of identifying individuals at risk for hereditary breast-ovarian cancer or Lynch syndrome include family history, ethnicity, or clinical criteria; however, these approaches miss a substantial number of pathogenic carriers, as high as 50% (Mighton et al 2022 ). Previous research has highlighted the benefits of a dedicated inherited cancer service and registry, such as increasing screening rates, decreasing mortality, and facilitating timely research access (Barrow et al 2013 ; Ghorbanoghli 2018 ; Vasen et al 2016 ).…”

Recent Trends in Biosensing and Diagnostic Methods for Novel Cancer Biomarkers

“…Moreover, it is crucial to reduce the possibility of detecting relationships that are eventually determined to provide false-positive results. The most crucial features of biomarker improvement and identification to consider in depth include mindful study pattern to minimize any kind of bias, extensive evaluation, validation, and accurate communication of the results [ 48 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 ].…”

The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?

“…Although HBOC has the strongest support for population screening with evidence demonstrating clinical and cost-effectiveness, Lynch syndrome has preliminary evidence and requires additional data. 31 Universal upfront MGPT not only shows improved diagnostic capabilities, but also cost savings. An analysis comparing standard upfront MGPT versus IHC for all newly diagnosed endometrial cancer demonstrated cost savings of $259 per patient.…”

“…Although HBOC has the strongest support for population screening with evidence demonstrating clinical and cost-effectiveness, Lynch syndrome has preliminary evidence and requires additional data. 31…”