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Feasibility of linking the UK 100,000 genomes project and real-world evidence databases for a melanoma patient population
Scherrer, E. Hair, G. M. Mt-Isa, S. Pereira, M. Chan, G. Shui, I. Arumugam, P. Zarowiecki, M. Witkowska, K. Rahim, T.
Scherrer, E.
Hair, G. M.
Mt-Isa, S.
Pereira, M.
Chan, G.
Shui, I.
Arumugam, P.
Zarowiecki, M.
Witkowska, K.
Rahim, T.
Citations
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Abstract
Background: Linking genomic and real-world evidence (RWE) datasets has the potential
to generate insights to inform clinical research or practice, including identifying
biomarkers associated with treatment response. This study explored the feasibility of
linking genomic and RWE data for melanoma patients within the UK 100,000 Genomes
Project. Methods: Anonymised whole-genome sequencing (WGS) data for patients with
melanoma were linked, using unique identifiers, to corresponding records in RWE
datasets maintained by the UK National Health Service and Public Health England
(PHE). Examined characteristics included demographics, melanoma type and stage,
and risk factors. The 20 most commonly mutated genes were determined for the
categories of actionable genes, other cancer-related genes, and non-actionable and
non-cancer-related genes. Treatment-related outcomes included time on treatment
(to next line or death), and overall survival from the start of first line therapy.
Results: A total of 337 melanoma patients with WGS data were identified and linked
to RWE records. While demographic data (e.g. age, gender, and race) were widely
available, melanoma risk factors (e.g. UV exposure) and disease characteristics (e.g.
tumour stage) were often missing. Treatment outcomes were difficult to estimate due
to availability and discordant cut-off dates across WGS, treatment, and death datasets
(April 2020, December 2017, and November 2019, respectively). Almost all patients
(97%) had at least one mutated non-actionable but cancer-related gene. The most
commonly mutated actionable genes were BRAF (42% of patients) d particularly to
BRAF-V600E (30%)dand NRAS (28%). Among other cancer-related genes, LRP1B and
FAT4 were the most commonly mutated (40% and 37%).
Conclusions: Substantial and valuable WGS data are available for patients with
melanoma within the 100,000 Genomes Project, and genomic characteristics appear
consistent with other cohorts. However, RWE linkage is challenging, particularly as
PHE clinical data are less current than the corresponding WGS data. Current efforts to
secure further sources and increase data release frequency will improve feasibility
Description
Date
2020
Publisher
Collections
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From UNPAYWALL
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Keywords
Type
Meetings and Proceedings
Citation
Scherrer E, Hair GM, Mt-Isa S, Pereira M, Chan G, Shui I, et al. 1136P Feasibility of linking the UK 100,000 genomes project and real-world evidence databases for a melanoma patient population. Annals of Oncology. 2020;31:S760-S1.