Minimizing inequality in access to precision medicine in breast cancer by real-time population-based molecular analysis in the SCAN-B initiative

Abstract

Background: Selection of systemic therapy for primary breast cancer is currently based on clinical biomarkers along with stage. Novel genomic tests are continuously being introduced as more precise tools for guidance of therapy, although they are often developed for specific patient subgroups. The Sweden Cancerome Analysis Network - Breast (SCAN-B) initiative aims to include all patients with breast cancer for tumour genomic analysis, and to deliver molecular subtype and mutational data back to the treating physician.

Methods: An infrastructure for collection of blood and fresh tumour tissue from all patients newly diagnosed with breast cancer was set up in 2010, initially including seven hospitals within the southern Sweden regional catchment area, which has 1.8 million inhabitants. Inclusion of patients was implemented into routine clinical care, with collection of tumour tissue at local pathology departments for transport to the central laboratory, where routines for rapid sample processing, RNA sequencing and biomarker reporting were developed.

Results: More than 10 000 patients from nine hospitals have currently consented to inclusion in SCAN-B with high (90 per cent) inclusion rates from both university and secondary hospitals. Tumour samples and successful RNA sequencing are being obtained from more than 70 per cent of patients, showing excellent representation compared with the national quality registry as a truly population-based cohort. Molecular biomarker reports can be delivered to multidisciplinary conferences within 1 week.

Conclusion: Population-based collection of fresh tumour tissue is feasible given a decisive joint effort between academia and collaborative healthcare groups, and with governmental support. An infrastructure for genomic analysis and prompt data output paves the way for novel systemic therapy for patients from all hospitals, irrespective of size and location.

Figure 1

Infrastructure of the SCAN‐B study and the catchment area

Figure 2

SCAN‐B enrolment statistics, and representativity of enrolled patients and sampled tumours. a Number of enrolled patients with operable invasive primary breast cancer by calendar year for 2011–2016 (partial years 2010 and 2017 not shown) and number of cases for which a preoperative untreated tumour specimen was received and processed for analysis. b Proportion of all operable invasive primary breast cancer diagnoses in the catchment area that were not accrued, accrued but without a tumour specimen or accrued with a specimen. The statistics are restricted to the original seven hospital sites where enrolment was fully operational by early 2010. c–h Bar graphs illustrating the distribution of clinicopathological characteristics for all operable invasive primary breast cancer diagnoses, all patients accrued in SCAN‐B, and all patients accrued and with a processed tumour specimen: oestrogen receptor status (c), Nottingham histological grade (d), tumour size (e), age at diagnosis (f), lymph node status (g) and type of breast surgery (h)

Figure 3

Schematic illustration of the work flow from inclusion and surgical excision to output data via RNA/DNA extraction. ER, oestrogen receptor; PR, progesterone receptor, HER2, human epidermal growth factor receptor 2