Prenatal Genomics —
Training activity: 7

Details

Analyse, interpret and report the results of diagnostic prenatal cases with sequence variants using appropriate current NGS technology e.g. Exome sequencing 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?

• How have you reviewed the best practice guidelines (such as ACGS and BSGM ) that you will need to interpret genomic variants and determine their clinical significance in a prenatal context?
• What are the essential elements you need to include when reporting prenatal genomic findings to ensure that recommendations for patient management are clear, safe, and clinically actionable?
• How do you plan to employ your specialist knowledge of prenatal genomics throughout this process to ensure the delivery of a safe and high-quality service?
• What foundational knowledge do you need to possess before embarking on the activity, such as understanding the specific genes associated with the referral or the technical limitations of the SNV detection platform being used?

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain from engaging with prenatal SNV cases, such as managing the interpretation of a variant of uncertain significance (VUS) in an ongoing pregnancy?
• How does your existing knowledge of SNV interpretation in rare disease genomics provide a basis for this more specialised prenatal task?

What actions will you take in preparation for the experience?

• How will yougain a clear understanding of the local standard operating procedures (SOPs) for prenatal SNV detection and reporting?
• What possible challenges do you anticipate facing—such as time-sensitive reporting pressures, limited foetal sample, or identifying a variant with ambiguous clinical significance—and how have you planned to handle them?
• How do you feel about embarking on this training activity, and given the significant impact these diagnostic results have on pregnancy management, how are you preparing for the professional responsibility involved?

In action

What are you doing?

• How are you currently approaching the analysis and the investigation of the clinical significance of the SNVs, and why is this particular worklow appropriate given the reason for referral?
• As the activity progresses, what real-time decisions are you making regarding the application of best practice guidelines (e.g., ACGS) for variant classification?
• Which aspects of navigating the SNV detection pipeline feel intuitive based on your previous molecular experience, and which parts require more conscious effort?

How are you progressing with the activity?

• What challenges are you facing in the moment—such as interpreting a variant with limited prenatal phenotypic data—and what are you learning from these as they unfold?
• How does this specific diagnostic task connect to your existing knowledge and skills in molecular genomics and variant interpretation?
• How are you applying your specialist knowledge of prenatal genomics during the analysis to ensure the investigation remains safe and of high quality?

How are you adapting to the situation?

• Do you need support or guidance from your Training Officer or a senior Clinical Scientist to resolve an interpretation query before the clinical report is finalised?
• As you formulate recommendations for patient management, how are you ensuring that your actions remain strictly within your professional scope of practice?
• How are you adapting your reporting approach in the moment to ensure the complex technical findings are communicated clearly and safely for the clinical team?

On action

What did you notice?

• Summarise the key points of the experience, specifically detailing the cases you handled for prenatal Single Nucleotide Variant (SNV) detection and the analytical workflow followed.
• What factors influenced your final interpretation of your findings?

What did you learn from the activity?

• What specific skills or knowledge did you develop regarding the use of best practice guidelines to interpret the clinical significance of prenatal SNVs?
• How has this experience 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 analysis—such as managing variants of uncertain significance (VUS) in a prenatal context or dealing with limited phenotypic information—and what did you learn from these?
• In what ways did your reflection-in-action (the real-time decisions you made during task) influence how the activity unfolded and the quality of the final clinical report?
• How does the experience of using specialist knowledge to deliver a safe and high-quality prenatal service relate to the 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 prenatal SNV analysis and reporting have you identified as a result of this activity?
• How can you apply the learning from this specialist activity to your practice to ensure that genomic investigations are consistently safe and conducted to a high standard?
• Identify the specific actions you will now take—such as reviewing updated gene-specific reporting guidelines or seeking feedback on your variant classification—to support the assimilation of what you have learned?
• What support or resources (e.g.,  MDT involvement, 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 the clinical significance of SNVs evolved as you have encountered a broader range of clinical cases beyond your initial training?
• Comparing this experience with your Observed Training Activities (OTAs), what specific observable behaviours—such your adherence to best practice guidelines—have you now assimilated into your practice?
• As part of a module review, what patterns have you identified in your clinical reasoning or technical decision-making by revisiting reflections from multiple training activities related to prenatal genomic services?
• Through discussions with senior colleagues or peers, has your view of how to navigate complex or ambiguous prenatal SNV findings changed during your training?

How have these experiences impacted upon your current practice?

• Recognising that these individual activities are building blocks of learning, how has this experience supported your development in wider areas, such as writing clinical reports or formulating patient management recommendations?
• In what ways have you applied the specialist knowledge gained from this activity since the original experience to improve the safety and quality of the prenatal genomic service you provide today?
• 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 the ability to synthesise complex genomic data or interpret SNV findings within a relevant clinical context —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 specialist knowledge to ensure you consistently deliver a safe and high-quality prenatal genomic service as technology and guidelines evolve?

Relevant learning outcomes

#	Outcome
# 2	Outcome Apply appropriate testing strategies to patients referred following abnormal ultrasound scan findings.
# 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.