Rare Disease 2 —
Training activity: 12

Details

Review referrals; analyse, interpret and report the results of testing for Myotonic dystrophy to include:

• diagnostic testing
• presymptomatic testing

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 this activity help you demonstrate your ability to triage diagnostic and presymptomatic referrals and perform targeted analysis for triplet repeats?
• What specific knowledge do you need regarding the technical aspects of triplet repeat assays used to identify CTG expansions in the DMPK gene?
• Have you reviewed the relevant guidelines for variant nomenclature and the established repeat ranges (normal, intermediate, and pathogenic) for Myotonic Dystrophy?
• What technical metrics, such as monitoring for stutter peaks or ensuring the assay’s sensitivity to detect large expansions, are essential for a safe and high-quality service?
• How will you gain an understanding of the supportive treatment options and clinical management for MD to effectively inform healthcare professional colleagues?

What do you anticipate you will learn from the experience?

• What do you hope to gain regarding the genetic basis of Myotonic Dystrophy, including the clinical implications of somatic mosaicism and anticipation?
• What do you already know about the typical results expected for this condition and the mechanisms of triplet repeat expansion?
• How do you anticipate this will improve your ability to interpret genomic variants and translate raw data into a clinically meaningful report for different referral types?

What actions will you take in preparation for the experience?

• Will you review relevant literature on Myotonic Dystrophy or consult the laboratory’s Standard Operating Procedures (SOPs) for triplet repeat assays?
• Have you planned to discuss previous examples of triplet repeat results to understand the nuances of presymptomatic testing pathways?
• What potential difficulties do you anticipate, such as handling ambiguous repeat sizes or results that require the consideration of complex family histories?
• How do you feel about the professional responsibility of reporting results for presymptomatic testing, given their significant impact on the patient’s future health and family?
• Under what circumstances (e.g., encountering an unexpected pattern or a result near a clinical threshold) will you seek immediate advice or clarification from a senior scientist to ensure your practice remains within established protocols?

In action

What are you doing?

• How are you currently approaching the analysis of the triplet repeat assay data for Myotonic Dystrophy, and why have you chosen this specific sequence of steps?
• What decisions are you making in the moment to determine if CTG repeat numbers fall within the normal, intermediate, or pathogenic range for MD?
• Which aspects of your practice feel intuitive, and which—such as referencing disorder-specific guidelines or laboratory protocols—require more conscious effort?

How are you progressing with the activity?

• How effective are your current strategies in identifying potential pathogenic expansions or unusual repeat patterns?
• How are you managing real-time technical or interpretative challenges, such as ambiguous repeat sizes, stutter peaks, or the presence of somatic mosaicism?
• What are you learning from the data as it unfolds regarding unexpected findings or unusual repeat configurations that require further investigation?

How are you adapting to the situation?

• Which alternative approaches, such as reviewing raw electropherogram data or consulting different sizing algorithms, are you considering for unclear or discrepant results?
• How are you identifying the point where you must seek immediate guidance from a senior colleague or specialist regarding a specific result’s clinical significance?
• How are you ensuring that your interpretation remains strictly within your professional scope of practice and aligns with established laboratory protocols and your current level of ability?

On action

What happened?

• How would you summarise the key aspects of your experience, specifically the review of referrals and the analysis of genomic data for MD?
• Which main types of triplet repeat assays (e.g., fragment analysis or TP-PCR) did you use, and what was the technical rationale for these choices?
• What was the range of results encountered (normal, intermediate, or pathogenic) and were there any unusual findings, such as significant somatic mosaicism?
• How did you feel when managing these results, considering their significant implications for the patient’s future health and their family?

How has this experience contributed to your developing practice?

• In what ways did you improve your ability to distinguish between repeat ranges and your proficiency with specific analysis tools or best practice guidelines?
• How did you successfully resolve ambiguous repeat sizes or initially challenging interpretations through investigation or consultation
• In what ways did your ‘reflection-in-action’ (real-time decisions made during analysis) influence the accuracy and clarity of the final interpretation?
• How does mastering these specific MD interpretations relate to the requirements for your future practice as a Clinical Scientist?

What will you take from the experience moving forward?

• Do you require further practice in differentiating repeat expansions or a deeper understanding of the clinical significance of intermediate alleles?
• What new strategies, such as specific quality control checks or additional resources, will you incorporate into your approach for future triplet repeat assays?
• Which specific ‘next steps’—including reviewing national guidelines, discussing complex cases with senior colleagues, or exploring clinical management literature—will you take to consolidate your learning?
• What additional support or resources (e.g., disease databases, expert mentorship, or specialised training platforms) have you identified as necessary for your ongoing professional development?

Beyond action

Have you revisited the experiences?

• Have your interpretations or understanding of Myotonic Dystrophy triplet repeat assays changed since you first completed this activity?
• Consider how your approach to dealing with complex or borderline results (such as intermediate alleles or subtle mosaicism) has evolved as you have gained more experience in the laboratory.
• How do your specific experiences with MD triplet repeat assays connect with your broader understanding of other PCR-based or fragment analysis techniques used across the department?
• Have you discussed challenging MD cases with peers or clinical colleagues? Consider if their perspectives have changed your view or enhanced your understanding of the clinical implications of these results.
• Compare your own practice in this activity with the observable behaviours you saw in senior scientists during Observed Training Activities (OTAs).

How have these experiences impacted upon your current practice?

• Avoid seeing this MD activity as an isolated incident. How has it supported the development of your high-level skills in writing interpretive reports, clinical reasoning, or communication?
• How has your experience with MD testing influenced your wider practice, such as how you approach quality control or the periodic review of Standard Operating Procedures (SOPs)?
• How have you applied the skills developed here to subsequent genomic cases? Are you now more confident in identifying technical artefacts or unusual patterns in raw electropherogram data?
• Consider how the learning from this training activity supports your preparation for the observed ‘in-person’ assessments (e.g., a Case-based Discussion regarding the ethical nuances of presymptomatic testing for MD).

How might these contribute towards your future practice?

• What transferable skills have you solidified through this activity (e.g., correlating technical output with clinical significance) that will be vital in your future career?
• Identify clear actions to stay current in this rapidly advancing field. Do you plan to attend workshops or read specific articles regarding new developments in triplet repeat testing?
• How has your understanding of the technical aspects and clinical implications of triplet repeat disorders developed, and how will this inform your future interactions with the wider clinical team?
• How has this experience, particularly the presymptomatic testing aspect, underscored the importance of a patient-centred approach in the delivery of genomic services?

Relevant learning outcomes

#	Outcome
# 1	Outcome Review referrals for patients referred for rare disease genomic testing.
# 2	Outcome Analyse, interpret and report results for diagnostic, presymptomatic and familial/carrier rare disease genomic testing.
# 3	Outcome Perform targeted analysis, whole genome analysis, and chromosomal analysis for patients referred for rare disease genomic testing.
# 4	Outcome Interpret genomic variants to investigate their clinical significance for patients referred for rare disease genomic testing.
# 7	Outcome Employ specialist knowledge of rare disease genomic testing to deliver a safe and high-quality service.
# 8	Outcome Demonstrate appropriate communication skills with healthcare professional colleagues to inform the clinical management of patients referred for rare disease genomic testing.