Landscape of cancer biomarker testing in England following genomic services reconfiguration: insights from a nationwide pathologist survey

Abstract

Aims: Cancer diagnostics have been evolving rapidly. In England, the new National Health Service Genomic Medicine Service (GMS) provides centralised access to genomic testing via seven regional Genomic Laboratory Hubs. The PATHways survey aimed to capture pathologists' experience with current diagnostic pathways and opportunities for optimisation to ensure equitable and timely access to biomarker testing.

Methods: A nationwide survey was conducted with consultant pathologists from regional laboratories, via direct interviews based on a structured questionnaire. Descriptive analysis of responses was undertaken using quantitative and qualitative methods.

Results: Fifteen regional centres completed the survey covering a median population size of 2.5 (1.9-3.6) million (each for n=12). The median estimated turnaround time (calendar days) for standard molecular markers in melanoma, breast and lung cancers ranged from 2 to 3 days by immunohistochemistry (excluding NTRKfus in breast and lung cancers, and PD-L1 in melanoma) and 6-15 days by real-time-PCR (excluding KIT for melanoma), to 17.5-24.5 days by next-generation sequencing (excluding PIK3CA for breast cancer). Tests were mainly initiated by pathologists and oncologists. All respondents discussed the results at multidisciplinary team (MDT) meetings. The GMS roll-out was perceived to have high impact on services by 53% of respondents, citing logistical and technical issues. Enhanced education on new pathways, tissue requirements, report interpretation, providing patient information and best practice sharing was suggested for pathologists and other MDT members.

Conclusion: Our survey highlighted the role of regional pathology within the evolving diagnostic landscape in England. Notable recommendations included improved communication and education, active stakeholder engagement, and tackling informatics barriers.

Keywords: CANCER; DIAGNOSTICS; Health Services.

Figure 1

Workflow for genetic testing within the NHS England Genomic Medicine Service Regional pathology plays a central role in supporting the delivery of genomic services. Pathologists have the critical responsibility in driving the evolving diagnostic pathways by integrating and interpreting morphological, immunohistochemical and molecular data from sources alongside other clinical information to offer expert opinions on diagnostic and prognostic information. FISH, fluorescence in situ hybridisation; GLH, Genomic Laboratory Hub; MDT, multidisciplinary team; NGS, next-generation sequencing; NHS, National Health Service.

Figure 2

(A) Perceived impact of the GMS roll-out on current services. (B) Perceived impact of the GMS roll-out on future services Responses are not mutually exclusive. GMS, Genomic Medicine Service; IT, information technology; n, number of respondents; TAT, turnaround time.

Figure 3

Barriers for optimal delivery of the GMS responses are not mutually exclusive. GLH, genomic laboratory hub; GMS, Genomic Medicine Service; IT, information technology; n, number of respondents.

Figure 4

(A) Educational support for pathologists from different sites. (B) Educational support for surgeons, clinical nurse specialist and clinicians. Responses are not mutually exclusive. CNS, clinical nurse specialist; n, number of respondents.