Training activity information
Details
Analyse the appropriate genetic tests for gene fusion analysis, to include:
- FISH, e.g. lung cancer
- RT-PCR, e.g. AML, ALL
- RNA Fusion panel, e.g. NTRK
Type
Developmental training activity (DTA)
Evidence requirements
Evidence the activity has been undertaken by the trainee.
Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.
An action plan to implement learning and/or to address skills or knowledge gaps identified.
Reflective practice guidance
The guidance below is provided to support reflection at different time points, providing you with questions to aid you to reflect for this training activity. They are provided for guidance and should not be considered as a mandatory checklist. Trainees should not be expected to provide answers to each of the guidance questions listed.
Before action
- For specific cancer types (e.g., lung cancer, AML, ALL) and gene fusions (e.g., involving NTRK), what are the recommended or preferred testing methodologies (FISH, RT-PCR, RNA fusion panel) based on current guidelines and clinical practice?
- What factors (e.g., turnaround time, sensitivity requirements, available sample type and quality) influence the choice of gene fusion testing method in different clinical scenarios?
- What clinical information is essential to determine if the requested gene fusion test and methodology are appropriate for the specific patient and their disease?
- How will you develop your ability to evaluate referral details and match them with the most suitable gene fusion testing strategy, considering both the target fusion and the analytical method?
- Will you review relevant guidelines and literature on gene fusion testing in lung cancer, AML, ALL, and for NTRK with your training officer or a senior scientist?
- What specific referral scenarios will you consider to understand the rationale behind choosing different gene fusion testing methods?
- What potential challenges might you encounter when analysing the appropriateness of a gene fusion test (e.g., requests for outdated methodologies, lack of information on prior testing)? How might you address these?
In action
- How are you currently approaching the analysis of signals, bands, or reads across different methodologies, and what real-time decisions are you making to identify and prioritise clinically significant gene fusions?
- What technical challenges are you encountering—such as atypical FISH patterns, low-level RT-PCR transcripts, or novel RNA-seq fusions—and how effective are your strategies in matching these findings to diagnostic and therapeutic targets?
- How are you managing ambiguous or unexpected results, for instance by reviewing QC data, employing alternative methodologies, or seeking specialist advice (e.g., from a bioinformatician), to ensure your analysis accounts for assay limitations and input material quality?
On action
- What were the specific gene fusion events detected using the different methodologies?
- How did the data from FISH, RT-PCR, and RNA fusion panels compare for the same or different cases?
- Were there any technical artefacts or challenges in interpreting the data from these different platforms?
- Did you enhance your skills in analysing data from different gene fusion detection methods?
- Did you gain a deeper understanding of the strengths and limitations of FISH, RT-PCR, and RNA fusion panels?
- How do you integrate the results from different gene fusion assays to provide a comprehensive interpretation?
- How will you choose the most appropriate gene fusion testing strategy based on the clinical context and available technology?
- What further training will you seek in the analysis of complex gene fusion data?
- How will you contribute to the quality assurance of gene fusion testing in the laboratory?
Beyond action
- Considering your subsequent work, how has your ability to analyse data from different gene fusion detection methods (FISH, RT-PCR, RNA sequencing) improved? Can you now more readily identify the strengths and limitations of each approach?
- Have you gained more insight into the bioinformatic pipelines used for fusion detection or the interpretation of complex fusion events?
- How has your experience in analysing gene fusion data informed your approach to analysing other types of structural variants in cancer genomes?
- As new technologies for fusion detection emerge, how will your foundational analytical skills help you to evaluate and implement these new approaches in your practice?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Analyse, interpret and report tests for patients referred with sporadic cancer. |
| # 7 |
Outcome
Analyse, interpret and report gene fusion testing in cancer referrals. |