Application of Techniques, Interpretation and Differential Diagnosis —
Training activity: 10

Details

Analyse and interpret two of the following genomic methods:

• FISH
• PCR
• Sequencing/high throughput sequencing
• Copy number assessment (e.g. cytogenetics, MLPA, SNP array)

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

What are the intended outcomes of the training activity?

• How will you focus your preparation on the requirement to analyse and interpret at least two of the specified genomic methods (e.g., FISH, PCR, Sequencing, or Copy Number assessment) within the context of haematological investigations?
• In what ways will reviewing the learning outcomes help you contextualise your approach to selecting the appropriate technique for a clinical presentation and identifying its specific practical limitations?
• How will this activity help you develop the detailed practical knowledge and experience needed to apply these molecular diagnostics to aid in disease classification and the generation of a differential diagnosis?
• What steps will you take to ensure you can effectively apply IQC and EQA principles to these complex genomic assays to draw valid conclusions about their performance?
• How will you prepare to demonstrate professional communication skills when presenting the results of these molecular investigations to your healthcare professional colleagues?

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain regarding the practical steps of your chosen methods, such as sample preparation, assay setup, and data acquisition?
• How do you anticipate this activity will improve your ability to interpret results involving genetic mutations, chromosomal abnormalities, or changes in gene expression in the context of haematological disorders?
• What do you expect to learn about the clinical advantages and disadvantages of different molecular techniques when applied to specific diagnostic scenarios?
• How will this experience build upon your existing knowledge of molecular biology and its specific application in a clinical haematology laboratory?
• In what ways will this activity prepare you for the high-level analytical responsibilities required for your future role as a Clinical Scientist?

What actions will you take in preparation for the experience?

• How will you discuss with your training officer which two genomic methods will be the focus of your training activity and what specific assays you will be involved in?
• Which theoretical principles and technical procedures (e.g., the mechanics of FISH probes or the chemistry of high-throughput sequencing) will you review to ensure your baseline knowledge is robust?
• What potential technical or interpretive challenges have you identified—such as troubleshooting PCR issues or handling complex sequencing data—and how do you plan to address them?
• Which clinical guidelines or reference materials will you gather beforehand to support your ability to reach an accurate and defensible interpretation?
• How do you feel about embarking on this task, and what specific areas of genomic analysis have you identified as requiring the most focused preparation to increase your confidence?

In action

What are you doing?

• As you analyse and interpret your two chosen molecular methods (e.g., FISH and PCR), what specific quality control measures are you taking during the procedure to ensure the results will be valid?
• What rationale are you using to approach the data acquisition—for example, why are you focusing on specific fluorescent signals in FISH or cycle threshold (Ct) values in PCR?
• What real-time decisions are you making as the assay progresses, such as adjusting thresholds for data acquisition or identifying the need for a re-run due to control failure?
• Which aspects of these genomic techniques feel intuitive due to your familiarity with molecular biology, and which require more conscious effort, such as the meticulous attention to detail needed for high-throughput sequencing library preparation?

How are you progressing with the activity?

• How effective are your current actions in identifying specific genetic alterations, such as chromosomal abnormalities, gene mutations, or copy number changes?
• What technical challenges are you facing as the activity unfolds, and how are you managing them to ensure the investigation remains on track?
• How are you applying the principles of internal quality control (IQC) in the moment to draw immediate conclusions about the reliability of the assay performance?
• How does this practical work connect to your existing knowledge of disease pathogenesis and the molecular basis of haematological malignancies?
• What are you learning about the limitations of the chosen techniques (e.g., the resolution of a SNP array or the sensitivity of a PCR assay) while you are actually reviewing the data?

How are you adapting to the situation?

• Based on the emerging molecular data, are there alternative genomic approaches or reflex tests you should consider to better answer the diagnostic question?
• How are you adapting your communication style in the moment to ensure you can present these complex findings clearly to a healthcare professional colleague?
• What support or guidance do you need—such as consulting specialist bioinformatic tools or an experienced molecular scientist—to resolve unexpected or ambiguous results?
• Are you confident that your real-time interpretations and technical decisions remain within your defined scope of practice?

On action

What did you notice?

• How would you summarise the key procedural elements involved in the analysis and interpretation of the two chosen genomic methods (e.g., FISH and sequencing)?
• What were the significant observations or data outputs—such as specific fluorescent signals, cycle threshold values, or sequence variants—that you focused on during your analysis?
• How did you evaluate the internal quality control (IQC) and external quality assessment (EQA) data to draw valid conclusions about the reliability of the assay performance before interpreting the final results?
• What did you notice about your communication of the findings to healthcare professional colleagues, and were you able to present the clinical significance of the genomic data clearly?
• Were there any unexpected technical challenges or successes during the performance of these methods, and how did you manage them?

What did you learn from the activity?

• What new skills or knowledge did you develop regarding the selection of these specific genomic techniques for investigating clinical presentations in haematology or haematological malignancy?
• How has this experience improved your ability to describe the practical limitations (e.g., resolution, sensitivity, or turnaround time) of the methods you analysed?
• In what ways did your reflection-in-action (decisions made as the data was being processed or analysed) influence the final interpretation of the case?
• How did this activity deepen your understanding of how to interpret molecular results to aid in disease classification or the generation of a differential diagnosis?
• How does this specific experience relate to the high-level interpretive and professional responsibilities required for your future role as a Clinical Scientist in post-programme practice?

What will you take from the experience moving forward?

• What specific areas for continued development have you identified in your ability to analyse complex genomic data or troubleshoot molecular assays?
• How will you apply the learning from this activity to your routine laboratory practice, particularly when integrating molecular findings with other multidisciplinary data like morphology or flow cytometry?
• What specific ‘next steps’ will you now take, such as reviewing current molecular pathology guidelines or attending a genomics workshop, to support the assimilation of what you have learned?
• What support or resources, such as specialist bioinformatic tools or mentoring from a clinical scientist in genetics, would further develop your expertise in these techniques?

Beyond action

Have you revisited the experiences?

• How has your understanding of the underlying principles of your two chosen methods (e.g., FISH and PCR) and their specific applications in haematological diagnostics evolved since you first completed this activity?
• When comparing the two molecular methods you analysed, what new insights have you gained regarding the similarities and differences in their clinical utility, interpretation, and impact on definitive patient diagnosis?
• As part of a broader review of the module, how has your appreciation for the role of molecular diagnostics grown in relation to other areas like morphology or flow cytometry?
• Have you engaged in professional storytelling with peers or senior scientists regarding the challenges of interpreting genomic data, and has this changed your perspective on how to manage complex or ambiguous results?

How have these experiences impacted upon your current practice?

• How has this training activity contributed to your overall diagnostic armamentarium, specifically your ability to interpret molecular reports in the context of disease classification and monitoring?
• In what ways have you applied your knowledge of IQC and EQA principles since this experience to ensure that the genomic data you interpret in routine practice is reliable and defensible?
• How has your improved ability to describe the practical limitations of genomic techniques (such as the resolution of a SNP array or the sensitivity of PCR) influenced the way you advise healthcare colleagues on appropriate testing strategies?
• How has this experience supported your preparation for observed ‘in-person’ assessments, such as Case-Based Discussions (CBDs) or DOPS, which require you to articulate the rationale behind molecular investigations?

How might these experiences contribute towards your future practice?

• What transferable skills, such as the critical evaluation of complex, high-throughput data sets or the integration of multidisciplinary data for a differential diagnosis, will be most essential in your future career?
• Based on your reflections, what clear actions have you identified for continued development—perhaps in mastering bioinformatics or understanding the nuances of next-generation sequencing?
• How does the learning from this activity provide the foundation for the high-level analytical and interpretive responsibilities you will hold as a post-programme Clinical Scientist?

Relevant learning outcomes

#	Outcome
# 1	Outcome Select techniques for the investigation of clinical presentations in haematology, haemostasis and transfusion science and medicine.
# 3	Outcome Interpret the results of the laboratory investigations for cases including red and white cell disorders and haemostatic and platelet disorders, haematological malignancy and transfusion serology.
# 4	Outcome Describe the limitations of techniques applied in the investigation of clinical presentations in haematology, haemostasis and transfusion science.
# 5	Outcome Apply the principles of internal quality control and external quality assessment and draw conclusions about assay performance.
# 6	Outcome Demonstrate appropriate communication skills to present the results of investigations and cases clearly to healthcare professional colleagues.