Rare Disease 1 —
Training activity: 7

Details

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

• Diagnostic (classical and non-classical) testing
• Newborn screening testing
• Carrier/familial 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?

• Regarding triaging referrals, how will you prepare to distinguish between the referral criteria for classical vs. non-classical CF diagnostic testing, and how does this differ for newborn screening testing or carrier/familial testing?
• Regarding analysis, what targeted laboratory techniques (e.g., common mutation panels, NGS, or MLPA) will you be expected to perform or review for these rare disease investigations?
• Regarding interpretation and nomenclature, how will you ensure you are applying the correct HGVS nomenclature to describe CFTR variants and determining their clinical significance accurately?
• What do you need to know before embarking on the activity? For example, what are the specific National Genomic Test Directory eligibility criteria for CF testing, and what are the local laboratory turnaround times for urgent prenatal or neonatal samples?

What do you anticipate you will learn from the experience?

• Consider the specific insights you hope to gain. For instance, how does the reporting process change when dealing with testing for a known familial mutation compared to a primary diagnostic investigation?
• How does your foundational knowledge of autosomal recessive inheritance and the biology of the CFTR gene provide a basis for interpreting complex cases, such as those with non-classical phenotypes or borderline sweat tests?

What actions will you take in preparation for the experience?

• How will you gain clarity of understanding regarding local Standard Operating Procedures (SOPs) and your specific role in the reporting pipeline.
• Consider possible challenges you might face—such as interpreting variants of uncertain significance (VUS), managing non-paternity issues in familial testing, or handling complex incidental findings—and think about how you might handle them.
• Identify how you feel about embarking on this training activity. Given that a diagnosis of Cystic Fibrosis has significant lifelong implications for the patient and their wider family, how are you preparing for the professional responsibility involved in delivering accurate and clear genomic reports?

In action

What are you doing?

• How are you currently approaching the triage of CF referrals? Why have you chosen this specific way to distinguish between diagnostic, newborn screening, and carrier testing?
• What real-time decisions are you making as you analyse the genomic data? For example, how are you deciding which variants require deeper investigation or the use of specific nomenclature tools?
• Which aspects of interpreting CFTR results feel intuitive based on your experience, and which parts—such as applying complex HGVS nomenclature —require more conscious effort?

How are you progressing with the activity?

• How effective are your current actions in ensuring that the laboratory testing will lead to an accurate and safe report for the patient?
• What challenges are you facing in this moment—such as a complex genotype with multiple variants or a referral with unclear clinical information—and what are you learning as the task unfolds?
• How does this activity connect to your existing knowledge of rare disease investigations and the specific inheritance patterns of Cystic Fibrosis?

How are you adapting to the situation?

• Are there alternative approaches you should be considering if the initial targeted testing does not explain the patient’s clinical phenotype?
• What support or guidance might you need in this moment to resolve a query regarding a variant of uncertain significance?
• As you interpret these findings and draft the report, are you ensuring that you are working strictly within your professional scope of practice?
• How are you adapting your actions to ensure the clinical significance of the findings is communicated clearly, particularly for sensitive cases like newborn screening or carrier testing?

On action

What did you notice?

• Summarise the key points of your experience reviewing CF referrals and reporting results.
• What were the essential clinical or technical details—such as a specific phenotype for non-classical CF, a familial mutation for carrier testing, or a borderline sweat test result—that most significantly influenced your reporting process?

What did you learn from the activity?

• What specific skills or knowledge did you improve regarding triaging referrals for diagnostic, newborn screening,, and carrier CF testing?
• How has this experience enhanced your ability to perform and review targeted analysis (such as common mutation panels or NGS) for CF cases?
• In what ways did you improve your ability to interpret CFTR variants, determine their clinical significance, and apply correct HGVS nomenclature?
• Were there any unexpected challenges or successes during the activity—such as identifying a rare pathogenic variant or managing a complex familial case—and what did you learn from these?
• How did your reflection-in-action (the real-time decisions you made while analysing data or drafting the report) influence the final outcome and the clarity of the report?
• How does the experience of accurately reporting CF findings relate to the professional requirements for your post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What specific areas for continued development in CF testing, variant interpretation, or reporting have you identified as a result of this activity?
• How can you apply the learning from this experience to your routine practice to ensure you consistently deliver a safe and high-quality service for rare disease patients?
• Identify the specific actions you will now take—such as reviewing the CFTR2 database for specific variant information or seeking feedback on your report wording—to support the assimilation of what you have learned.
• What support or resources (e.g., senior clinical scientist mentorship, attendance at CF-specific MDTs, or updated best practice guidelines) do you need to further develop your expertise in this area?

Beyond action

Have you revisited the experiences?

• How has your perspective on triaging referrals for non-classical vs. classical CF evolved as you have encountered a wider variety of clinical presentations since this activity?
• Compare these experiences with those from your Observed Training Activities (OTAs). What specific observable behaviours, such as your proficiency in applying HGVS nomenclature or performing targeted analysis, have you assimilated into your routine practice?
• As part of a review of the module, what recurring themes or necessary actions have you identified by revisiting reflections from multiple training activities related to rare disease investigations?
• Through discussions with colleagues or peers, has your understanding of the complexities of carrier or newborn screening testing changed as a result of mutual exchange?

How have these experiences impacted upon your current practice?

• How has this experience supported your development in wider areas, such as writing interpretative reports or communicating complex results to clinicians, rather than seeing it as an isolated incident?
• How have you applied the specialist knowledge of CFTR variant interpretation since the original experience to improve the safety and quality of the genomic service you provide today?
• How is the learning from this CF activity supporting your preparation for in-person assessments for this module, such as Case-based Discussions (CBDs) or Direct Observations of Practical Skills (DOPS) related to rare disease analysis?

How might these experiences contribute towards your future practice?

• What transferable skills—such as the ability to synthesise technical data with phenotypic information or manage the ethical nuances of familial testing—are you continuing to develop as you move toward becoming a Clinical Scientist?
• What clear actions have you identified for the continued development of your skills in rare disease genomics to ensure you consistently deliver a high standard of patient-centred care in your future post-programme practice?

Relevant learning outcomes

#	Outcome
# 1	Outcome Triage referrals for rare disease genomic investigations.
# 2	Outcome Perform targeted and chromosomal analysis for patients referred for investigation of rare disease.
# 3	Outcome Interpret genomic variants to investigate the clinical significance using appropriate nomenclature.
#	Outcome