Rare Disease 2 —
Training activity: 16

Details

Investigate an incident and perform a root cause analysis, recommend corrective and preventative actions and document the findings.

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 investigating this incident help you outline the principles of quality management and demonstrate how they ensure a high-quality genomics service?
• How does identifying the root cause of an error in rare disease genomic testing (e.g., a sample switch or interpretation error) allow you to deliver a safer service moving forward?
• How do you intend to use this activity to practice communicating sensitive findings with healthcare colleagues to ensure patient safety and clinical management are not compromised?
• What do you need to know about your laboratory’s specific Quality Management System (QMS), incident reporting software (e.g., DATIX), and RCA methodologies (like the ‘5 Whys’ or Fishbone diagram) before you begin?

What do you anticipate you will learn from the experience?

• What insights do you hope to gain regarding the difference between a ‘human error’ and a systemic failure within the laboratory workflow?
• What do you already know about how your laboratory handles Corrective and Preventative Actions (CAPA) and how these are documented to meet accreditation standards (e.g., ISO 15189)?
• How do you anticipate this investigation will change your perspective on the impact of laboratory errors on the patient journey in rare disease diagnostics?

What actions will you take in preparation for the experience?

• Have you planned to discuss the incident to gain clarity on the scope of the investigation and the required documentation?
• Will you review previous incident reports or the laboratory’s Standard Operating Procedures (SOPs) for incident management and RCA?
• What potential difficulties do you anticipate? For example, how will you handle the challenge of interviewing colleagues involved in the incident while maintaining a ‘blame-free’ professional culture?
• How do you feel about embarking on an investigation that may highlight errors made by yourself or your peers?
• At what point in the investigation (e.g., when determining the severity of clinical harm or recommending major service changes) will you seek immediate guidance from a senior clinical scientist to ensure you are practicing within your level of competency?

In action

What are you doing?

• What is the technical rationale for your chosen sequence of steps, and which specific protocols or guidelines are you drawing upon (e.g. for cancer test selection)?
• What decisions are you making in the moment to determine if repeat numbers or copy number changes (e.g. SMN1 or DMD) fall within a normal or pathogenic range?
• What filtering strategies are you applying to manage vast sequence data (e.g. prenatal exome analysis) to isolate relevant causative variants?
• Which parts of your practice feel intuitive, and which—such as referencing ISCN nomenclature or ACMG guidelines—require more conscious effort?

How are you progressing?

• How effective are your chosen methods in allowing you to identify relevant genomic abnormalities, and are your communication strategies effectively conveying complex concepts to an MDT?
• What real-time technical challenges are you facing, such as low-quality metaphases, subtle structural rearrangements, or stutter peaks?
• How are you managing borderline copy number changes or Variants of Uncertain Significance (VUS) that emerge during the analysis?
• What insights are you gaining regarding the nuances of the dataset or the practical application of theory as the task unfolds?

How are you adapting to the situation?

• Which alternative approaches—such as reviewing raw electropherograms, using different sizing algorithms, or requesting parental samples for imprinting defects—are you considering for unclear results?
• In an MDT setting, how are you adjusting your language to ensure genomic information is accessible to different professionals, such as clinicians or genetic counsellors?
• How are you ensuring you remain within your professional scope of practice, and at what point do you recognise the need for immediate senior clarification?

On action

What happened?

• How would you summarise the key aspects of the incident you investigated, including the type of error (technical, administrative, or interpretative) and the stage of the laboratory pathway where it occurred?
• What were the primary findings of your RCA, and did you identify a single point of failure or a combination of systemic issues?
• Which specific corrective and preventative actions (CAPA) did you recommend, and how did you document these findings within the laboratory’s quality management system?
• How did you feel during the investigation, particularly when managing the professional responsibility of identifying errors that could impact patient safety?

How has this experience contributed to your developing practice?

• In what ways did you improve your proficiency in using RCA methodologies, such as the ‘5 Whys’ or Fishbone diagrams, to identify underlying systemic failures?
• How has this activity enhanced your understanding of how quality management principles (e.g., ISO 15189 standards) contribute to the delivery of a safe and high-quality genomics service?
• How did you manage unexpected challenges, such as difficulties in gathering evidence or maintaining a blame-free culture during interviews with colleagues?
• How successful were you in ensuring your recommendations were practical, evidence-based, and effectively communicated to the wider team?
• In what ways did your ‘reflection-in-action’—such as pivoting to a different part of the workflow during the investigation—influence your final conclusions?
• How does this experience relate to your future requirements as a Clinical Scientist to lead on service improvement and maintain patient safety?

What will you take from the experience moving forward?

• Do you require further practice in documenting complex investigations or a deeper understanding of specific quality control metrics to prevent future errors?
• How will you apply these insights to your routine work, such as becoming more attentive to specific bottlenecks or risk points in the laboratory workflow?
• Which specific ‘next steps’—such as following up on the effectiveness of your CAPAs or seeking feedback from the Quality Lead on your report—will you take to consolidate your learning?
• What support or resources (e.g., quality management software, expert mentorship from a Quality Manager, or advanced risk assessment training) have you identified as necessary to further develop your expertise?

Beyond action

Have you revisited the experiences?

• Have you revisited the specific incident investigation and root cause analysis you performed? Consider evaluating and re-evaluating your findings in light of subsequent laboratory experiences. Have your interpretations of the “root cause” changed as you have gained a broader understanding of the laboratory’s Quality Management System (QMS)?
• Compare your investigative approach with the practices of senior scientists or Quality Leads. What observable behaviours or systematic approaches to troubleshooting have you now assimilated into your own routine practice?
• Have you discussed the incident and your recommended CAPAs with peers or colleagues? Has this mutual exchange of experiences transformed your perspective on how systemic failures are identified and managed?
• Revisit your reflections on this training activity as part of a wider review of your service delivery training. What overarching themes have emerged regarding your ability to maintain a safe, high-quality, and accredited genomic service?

How has this experience impacted your current practice?

• How has it supported the development of high-level skills such as writing technical reports, clinical reasoning, and professional communication?
• How have you applied the skills of root cause analysis since the original experience? For example, are you now more attentive to potential ‘risk points’ or bottlenecks when performing routine assays like triplet repeat analysis or WGS?
• How has this activity influenced your wider practice in the laboratory? Has it changed how you approach quality control, the review of Standard Operating Procedures (SOPs), or the way you document non-conformances?
• How will this learning support your preparation for ‘in-person’ assessments? Consider how this experience informs your readiness for a Case-based Discussion (CBD) on laboratory safety or a Direct Observation of Practical Skills (DOPS) involving quality management.

How might this experience contribute to your future practice?

• Identify the transferable skills you are solidifying through this activity, such as critical thinking, risk assessment, and the ability to maintain a ‘blame-free’ culture, which will be vital in your future career as a Clinical Scientist.
• Identify clear actions for continued development of these skills. Do you plan to attend workshops on ISO 15189 accreditation standards or read specific articles on new quality improvement methodologies to further your understanding?
• How has this experience underscored the importance of a patient-centred approach? Reflect on how robust incident investigation and preventative action directly contribute to the delivery of safe and reliable results for patients and their families.

Relevant learning outcomes

#	Outcome
# 6	Outcome Outline how the principles of quality management contribute to the delivery of high-quality rare disease genomics services.
# 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.