Solid Cancers 1

Details

Title

Solid Cancers 1

Type

Specialist

Module code

S-CG-S1-1

Credits

10

Requirement

Compulsory

Aim of this module

This module will provide the trainees with an introduction of molecular mechanisms leading to the development of solid cancers and the associated genomic testing.

This module will focus on patients with colorectal cancer and melanoma, as exemplars, and will provide trainees with the knowledge to understand the organisation and delivery of a diagnostic cancer genomic service. This module will provide trainees with the skills to recognise the sample diagnostic pathway, the relevant testing strategies including NGS and non-NGS assays, as well as the importance of bioinformatic/NGS quality metrics. This module will provide the trainees with the skills to analyse and interpret patient results, and the requirements for additional investigations.

Competencies

Assessments

Complete 2 Case-Based Discussions

Complete 2 DOPS or OCEs

Direct Observation of Practical Skills Titles

• Perform morphological assessment for colorectal cancer or melanoma
• Perform tumour genotype analysis using bioinformatic pipelines and associated tools for colorectal cancer or melanoma
• Produce a diagnostic clinical report for a patient with hotspot mutation(s) for colorectal cancer or melanoma
• Interpret a molecular assay (non NGS) for colorectal cancer or melanoma
• Interpret a somatic variant, discuss the relevance for diagnosis for colorectal cancer or melanoma
• Interpret a germline variant, discuss the relevance for diagnosis for colorectal cancer or melanoma

Observed Communication Event Titles

• Advise another healthcare professional on the appropriate acceptance criteria for a sample for investigation for solid cancers
• Inform another healthcare professional of a delay in results or a need for additional or confirmatory testing for colorectal cancer or melanoma

Learning outcomes

Learning outcomes

On successful completion of this module the trainee will be able to:

1. Apply integrative knowledge of the aetiology and biological processes leading to the development of colorectal cancer and melanoma.
2. Describe the genomic mechanisms underpinning the development of colorectal cancer and melanoma.
3. Critically evaluate utilisation of genomic testing in acquired colorectal cancer compared with inherited disease with specific reference to diagnosis, prognosis, monitoring and treatment.
4. Explain the appropriate technologies and their application to the analysis of the colorectal cancer and melanoma, to include reflex testing.
5. Apply integrative knowledge of patient pathway for colorectal cancer and melanoma from sampling to reporting of laboratory findings and feedback of results.
6. Evaluate the appropriate therapeutics, inhibitors or other appropriate therapies to guide patient disease management depending on the clinical status such as metastases and genomic results.

Indicative content

• Aetiology of colorectal cancer and melanoma.
• Molecular basis and underlying mechanisms, including epigenetics, driver and passenger mutations, oncogenes and tumour suppressor genes, signalling pathways and associated genes.
• Mechanisms of genomic aberrations in colorectal and melanoma cancer.
• Associated genomic aberrations and role within diagnosis and disease management.
• Current nomenclature used to describe genomic alterations.
• Metastasis and relapse.
• Germline associations.
• Germline and somatic variant interpretation.
• Current laboratory techniques and methodologies employed for tumour genotyping (e.g. extraction, polymerase chain reaction, and sequencing technologies)
  • Bespoke assays/in-house.
  • Commercially available kits.
• Histopathological sample processing requirements for genotyping and impact on upstream testing.
• Nucleic acid extraction methodologies.
• Analytical and clinical sensitivity and specificity of these tests, including limits of detection (LOD).
  • Understanding the significance of low-level variants in the clinical context.
• The use of bioinformatics tools and relevant genomic databases.
• Quality control, validation and verification, and external quality assessment schemes.
• Standardisation and the use of appropriate tools and nomenclature for reporting variants.
• Potential application of relevant emerging technologies (e.g. digital pathology).
• Genomic aberrations seen in colorectal and melanoma cancer and their role in disease management in the context of their predictive and prognostic value.
• Application of current therapeutics to the clinical scenario.
• Precision therapies.
• Clinical trials and their role in the diagnostic setting.
• Multidisciplinary team working, including pathology, histopathology, genomics laboratory, clinical genetics and disease specific multidisciplinary teams.
• Impact of genomics on patients and their families including ethical considerations, including consent.
• Best practice guidelines, including national guidance, clinical trials, advisory and regulatory bodies, NICE guidance and standard of care testing.
• Horizon scanning for example tumour mutation burden, WGS, and future biomarkers.

Activities

1. Observe the histopathological preparation of samples to appreciate the impact on onward molecular analysis.
2. Observe NGS laboratory procedures for cancer gene panels applicable to solid cancer referrals to appreciate the workflow.
3. Attend a national group/tumour board meeting.