Fundamentals of Histocompatibility & Immunogenetics —
Training activity: 7

Details

Analyse family HLA typing results to produce pedigree data

Type

Entrustable training activity (ETA)

Evidence requirements

Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion. ​

Reflection at multiple timepoints on the trainee learning journey for this activity.

Considerations

• Local procedures
• HLA haplotypes and inheritance
• Recombination events
• Implications and consideration for patients/donors of incidental findings, including confidentiality, parentage, blended families, family dynamics and consanguinity

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 does success look like?

• Identify what is expected of you in relation to accurately analysing HLA typing data from multiple family members and constructing a clear pedigree chart that demonstrates inheritance.
• Consider how the learning outcomes apply, specifically in relation to interpreting test results and practicing in accordance with quality standards.
• Discuss with your training officer to gain clarity of what is expected of you in relation to identifying haplotypes, recognising Mendelian inheritance patterns, and documenting any potential non-Mendelian findings (e.g., recombination, mis paternity).

What is your prior experience of this activity?

• Think about what you already know about basic genetics, drawing pedigree charts, and analysing family-based laboratory results.
• Consider possible challenges you might face during the activity, such as encountering complex inheritance patterns, dealing with missing or ambiguous results for one or more family members, or identifying possible recombination events.
• Recognise the scope of your own practice for this activity i.e. know when you will need to seek advice or help, and from whom. You will need to seek advice from your Training Officer when required, for example if the results suggest a non-Mendelian inheritance pattern, requiring clarification before finalising the pedigree.
• Acknowledge how you feel about analysing genetic data to determine familial relationships for clinical purposes.

What do you anticipate you will learn from the experience?

• Consider the specific skills you want to develop, such as systematic checking for haplo-identity or graphical presentation of complex familial data.
• Identify the specific insights you hope to gain into the practical application of linkage disequilibrium and recombination principles in HLA typing.

What additional considerations do you need to make?

• Consult actions identified following previous experiences of genetic analysis or complex data reconciliation.
• Identify important information you need to consider before embarking on the activity, such as reviewing the principles of HLA inheritance (haplotypes), standard pedigree notation, and the expected resolution level of the family member typing.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate whilst analysing family HLA typing results to produce pedigree data?
• Are you encountering situations such as:
  • The family results showing an unexpected inheritance pattern (non-Mendelian) or apparent data discrepancies (e.g., mis paternity)?
  • Missing samples or ambiguous typing results for key family members complicating the pedigree construction?

How are you reacting to the unexpected development?

• How is this impacting your actions? For example, are you responding to the situation appropriately? Are you adapting or changing your approach to investigate the unusual inheritance pattern?
• Consider the steps you are taking in the moment, such as:
  • Immediately re-checking the raw typing data for all individuals involved in the discrepancy
  • Documenting the unexpected finding meticulously and seeking clarification from the Training Officer or clinical staff before finalising the pedigree
• How are you feeling in that moment? For instance, are you finding it difficult to determine the best way to handle missing data in the pedigree? Is it affecting your confidence in completing the family analysis independently?

What is the conclusion or outcome?

• Identify how you are working within your scope of practice. For example, are you successfully producing a clear pedigree chart after resolving minor data inconsistencies? Or are you needing support because the evidence strongly suggests a complex biological discrepancy (e.g., unexpected recombination or non-paternity) requiring senior genetic counselling input?
• What are you learning as a result of the unexpected development? For example, are you mastering the analytical steps required to identify non-Mendelian inheritance patterns? Or gaining insight into the importance of robust data checking in family studies?

On action

What happened?

• Begin by summarising the key steps you took when analysing family HLA typing results and constructing the pedigree.
• Consider specific events, actions, or interactions which felt important, such as how you identified the haplotypes of each parent and tracked inheritance in the offspring.
• Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, immediately revising the pedigree chart when the initial analysis suggested a non-Mendelian inheritance pattern or seeking clarification on a missing data point for a key family member.
• How did you feel during this experience, e.g., did you feel methodical in tracking inheritance or concerned about potential discrepancies?

How has this experience contributed to your developing practice?

• Identify what learning you can take from this experience regarding interpreting familial HLA data and constructing pedigrees. What strengths did you demonstrate, e.g., accurate application of Mendelian inheritance principles?
• What skills and/or knowledge gaps were evident, e.g., recognising rare recombination events?
• Compare this experience against previous engagement with similar activities – were any previously identified actions for development achieved? Has your practice improved in interpreting test results?
• Identify any challenges you experienced, such as missing data, unexpected inheritance, or needing advice on scope of practice regarding reporting complex genetic discrepancies, and how you reacted to this.

What will you take from the experience moving forward?

• Identify the actions or ‘next steps’ you will now take to support the assimilation of what you have learnt, including from any feedback you have received, with regards to improving your skills in family data analysis and pedigree construction.
• What will you do differently next time you approach creating a pedigree, for instance, by proactively double-checking the input data for all family members against the original results sheet?
• Do you need to practise any aspect of the activity further, such as pedigree notation or key learning outcomes related to practicing in accordance with quality standards?

Beyond action

Have you revisited the experiences?

• How have your subsequent experiences of analysing family HLA typing results and producing pedigree data since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, how a subsequent case involving unexpected non-Mendelian inheritance or a suspected recombination event forced you to re-evaluate the rigour of your initial haplotype assignment and pedigree analysis during your first attempt at this training activity.
• Considering what you understand about Mendelian inheritance, haplotype tracking, and the clinical implications of pedigree findings now, were the actions or considerations you identified after your initial reflection on this training activity sufficient?
• How have you since implemented or adapted improvements in your pedigree construction or identification of haplotypes based on further learning and experiences? For example, how you proactively implemented a standardised process for systematically tracking all possible haplotypes based on further learning.
• Has discussing complex family structures, recombination events, or potential pitfalls in pedigree analysis with colleagues, peers, or supervisors changed how you now view your initial experience in this training activity? For example, how professional storytelling with a senior colleague about a case where a misclassified pedigree led to uncertainty in related donor selection refined your understanding of the critical nature of logical deduction and data organisation in familial analysis.

How have these experiences impacted upon current practice?

• How has the learning from this initial training activity, in combination with subsequent experiences of family HLA analysis, contributed to your overall confidence and competence in applying principles of genetics to HLA inheritance, particularly in preparing for general observed assessments (DOPS or OCEs) related to data interpretation or donor selection? For example, how your accumulated ability in applying genetic principles and data organisation now enables you to confidently discuss complex family findings during an assessment.
• How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to family analysis and pedigree generation?
• How does this evolved understanding help you identify when family data is inconsistent or requires expert genetic interpretation and when this is beyond your scope of practice? For example, how your evolved approach means you now routinely seek expert genetic interpretation immediately when findings suggest non-paternity or an unconfirmed recombination event, recognising this requires specialist clinical or pathological input.
• Looking holistically at your training journey, how has this initial pedigree analysis experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to interpreting test results and practicing in accordance with quality standards? For example, how this foundational experience has supported your development in transferable skills such as applying genetic principles and logical deduction that will be valuable in future roles or responsibilities.

Relevant learning outcomes

#	Outcome
# 4	Outcome Interpret test results for the range of techniques performed.
# 6	Outcome Practice in accordance with quality and accreditation standards.