Prenatal Genomics —
Training activity: 5

Details

Analyse, interpret and report the results of prenatal cases with copy number changes using appropriate current technology e.g. microarray or Whole Genome Sequencing (WGS).

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 the interpretation of genomic variants, which specific tools and best practice guidelines (e.g., for microarray or NGS copy number analysis) do you need to review to accurately investigate the clinical significance of these changes?
• Regarding reporting prenatal findings, what are the essential components of a report that ensure recommendations for patient management are clear, safe, and actionable for clinicians?
• Regarding specialist knowledge, how will you apply your understanding of prenatal genomics to ensure that the analysis of copy number changes contributes to a safe and high-quality service?
• What do you need to know before embarking on the activity? Consider foundational concepts such as the difference between pathogenic, benign, and variants of uncertain significance (VUS) specifically within a prenatal context.

What do you anticipate you will learn from the experience?

• Consider the specific insights you hope to gain from engaging with this activity. For example, are you interested in how to differentiate between a benign familial copy number variant and a clinically significant de novo change?
• Think about what you already know about the task. How does your existing knowledge of constitutional genomics or cytogenetics provide a foundation for this more specialised prenatal analysis?

What actions will you take in preparation for the experience?

• How will you gain clarity of understanding regarding the local standard operating procedures (SOPs) for reporting copy number variations.
• Consider possible challenges you might face, such as managing the interpretation of a VUS in a time-sensitive prenatal setting, and think about how you might handle them.
• Identify how you feel about embarking on this training activity. Given the high clinical stakes of reporting results that may significantly impact a pregnancy, do you feel adequately prepared for this professional responsibility?

In action

What are you doing?

• How are you currently approaching the analysis of the copy number variant (CNV), and why have you chosen this specific technical workflow or set of tools?
• What real-time decisions are you making as you investigate the clinical significance of the variant—for example, which databases or best practice guidelines (e.g., ACGS or ClinGen) are you prioritising in the moment?
• Which aspects of interpreting these genomic variants feel intuitive based on your experience, and which parts—such as assessing the impact of a variant of uncertain significance (VUS)—require more conscious effort?

How are you progressing with the activity?

• How effective are your actions in moving towards a definitive interpretation and a clear report of the findings?
• What challenges are you facing right now—such as interpreting a CNV with limited prenatal clinical data or identifying inheritance patterns—and what can you learn from these as they unfold?
• How does this specific task of analysing copy number changes connect to your existing knowledge and skills in constitutional or cytogenomic analysis?
• In what ways is your specialist knowledge guiding your real-time decisions to ensure the investigation remains safe and of high quality?

How are you adapting to the situation?

• Are there alternative approaches or different guidelines you should consider if the initial analysis provides ambiguous results?
• Do you need support or guidance from your Training Officer or a senior Clinical Scientist to resolve an interpretation difficulty before drafting the report?
• As you prepare the recommendations for patient management, are you ensuring that your actions remain strictly within your professional scope of practice?
• How are you adapting your reporting style in the moment to ensure the findings are communicated clearly and safely for the referring clinician?

On action

What did you notice?

• Summarise the key points of the experience, specifically detailing the cases you handled involving copy number variations (CNVs) and the workflow you followed.
• What were the essential findings (e.g., the size, location, and gene content of the CNVs) and clinical details that most significantly influenced your final interpretation?

What did you learn from the activity?

• What specific skills or knowledge did you develop or improve regarding the use of tools and best practice guidelines to interpret the clinical significance of copy number changes?
• How has this activity improved your ability to report prenatal genomic findings and provide clear, actionable recommendations for patient management?
• Were there any unexpected challenges or successes during the activity—such as navigating complex genomic regions or distinguishing between pathogenic and benign changes—and what did you learn from these?
• In what ways did your reflection-in-action (the real-time decisions you made during the analysis) influence the technical accuracy and the quality of the final report?
• How does this experience of using specialist knowledge to deliver a safe and high-quality service relate to your future requirements for post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What specific areas for continued development in the analysis of copy number changes have you identified (e.g., deeper understanding of specific microdeletion syndromes or updated database usage)?
• How can you apply the learning from this activity to your practice to ensure that prenatal genomic investigations are consistently safe and high-quality?
• Identify the specific actions you will now take—such as reviewing updated ACGS guidelines for CNVs or seeking feedback on your reporting —to support the assimilation of what you have learned?
• What support or resources (e.g., specialist prenatal databases, access to MDT discussions, or senior mentorship) do you need to further develop your expertise in this field?

Beyond action

Have you revisited the experiences?

• How has your perspective on interpreting genomic variants and investigating their clinical significance evolved as you have encountered a broader range of copy number changes since this activity?
• Comparing these experiences with your Observed Training Activities (OTAs), what specific observable behaviours—such as your adherence to best practice guidelines—have you now assimilated into your own practice?
• As part of a module review, what recurring themes or necessary actions have you identified by revisiting reflections from multiple training activities related to prenatal genomic services?
• Through discussions with peers or senior colleagues, has your view of how to handle complex or ambiguous copy number findings changed or transformed 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 genomic reports or formulating patient management recommendations?
• In what ways have you applied the specialist knowledge of prenatal copy number changes to your daily work since the original activity, and how has this influenced the safety and quality of your service?
• How is the learning from this activity supporting your preparation for your “in-person” assessments, such as Case-based Discussions (CBDs) or Direct Observations of Practical Skills (DOPS) for this module?

How might these experiences contribute towards your future practice?

• What transferable skills—such as critical analysis of genomic data or translating technical findings for clinical use—are you developing through these activities that will be vital to your future role as a Clinical Scientist?
• What clear actions have you identified for the continued development of your skills in managing and reporting complex copy number cases to ensure you consistently deliver a safe and high-quality prenatal genomic service?

Relevant learning outcomes

#	Outcome
# 2	Outcome Apply appropriate testing strategies to patients referred following abnormal ultrasound scan findings.
# 4	Outcome Interpret chromosomal rearrangements for prenatal patients, including implications for recurrence risk and future testing.
# 5	Outcome Interpret genomic variants for prenatal patients and investigate the clinical significance of variants using best practice guidelines.
# 6	Outcome Report prenatal genomic findings, including appropriate recommendations for patient management.
# 7	Outcome Employ specialist knowledge of prenatal genomics to deliver a safe and high quality prenatal genomic service.