Rare Disease 2 —
Training activity: 18

Details

Liaise with multidisciplinary specialists to inform clinical decision making related to genomic rare disease investigations.

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 this activity help you demonstrate your ability to employ specialist knowledge to ensure that the clinical management of a rare disease patient is both safe and high-quality?
• In what ways do you intend to use this liaison to practice demonstrating appropriate communication skills with healthcare colleagues to inform clinical decision-making?
• What foundational knowledge regarding the specific rare disease genomic markers, inheritance patterns, or clinical referral criteria must you master before participating in these discussions?
• How will you ensure your contributions focused on the genomic investigation directly support the clinical management of the patient referred for testing?

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain regarding how specialists from different disciplines (e.g., clinicians, genetic counsellors, or specialists like neurologists or cardiologists) integrate genomic results into their clinical reasoning?
• How do you expect this activity to improve your understanding of the real-world clinical impact of variant interpretation on the actual treatment pathways for rare disease patients?
• Reflecting on your existing laboratory knowledge, which aspects of interprofessional liaison do you find most challenging or interesting to explore further?
• In what ways do you anticipate this experience will help you learn to tailor your language to suit the different information needs of various healthcare professionals?

What actions will you take in preparation for the experience?

• What preparatory discussions have you planned to gain clarity on your specific role during the liaison process and the expectations for your professional input?
• Which resources, such as clinical management guidelines, the National Genomic Test Directory, or specific patient case notes, will you review to ensure your contributions remain evidence-based?
• What possible challenges do you foresee, such as communicating complex technical data to non-genomics specialists or navigating differing clinical opinions, and how do you plan to handle them?
• How do you feel about embarking on this activity, considering that your professional liaison and specialist expertise will directly influence the clinical management of the patient and their family?
• What actions will you take to ensure you remain strictly within your professional scope of practice while providing specialist advice to the multidisciplinary team?

In action

What are you doing?

• How are you currently approaching your contributions to the multidisciplinary discussion? Are you actively listening to the clinical context, or are you preparing to present specific genomic findings?
• What real-time decisions are you making regarding which technical details or variant interpretations are most relevant to share with the wider clinical team to inform the patient’s management?
• How are you tailoring your communication and language to suit the different healthcare professionals involved, such as clinicians, genetic counsellors, or nursing staff?
• Which aspects of this interprofessional liaison feel intuitive based on your specialist knowledge, and which parts—such as discussing specific clinical management implications—require more conscious effort?

How are you progressing with the activity?

• How effective are your current communication strategies in ensuring the key genomic findings and their potential implications are clearly understood by the other members of the team?
• What challenges are you encountering in this moment, such as understanding complex clinical scenarios from other specialties or navigating differing clinical opinions regarding a variant?
• What are you learning from the contributions of other team members as the discussion unfolds? Are there clinical or counselling aspects of the case you hadn’t previously considered?
• How are you connecting the multidisciplinary dialogue to your existing knowledge of rare disease genomic markers and inheritance patterns?

How are you adapting to the situation?

• If you realise a clinical point is misunderstood or if there is disagreement on the interpretation of results, how are you adjusting your communication style or the information you are sharing to reach a consensus?
• What immediate support or guidance do you need during the meeting to clarify a complex point or resolve a query?
• How are you ensuring that your contributions and the advice you provide remain strictly within your professional scope of practice?
• How are you applying your specialist knowledge in the moment to ensure the multidisciplinary team’s conclusions align with providing a safe and high-quality service for the patient?

On action

What did you notice?

• How would you summarise the key aspects of your liaison with the multidisciplinary team (MDT), specifically regarding the rare disease cases discussed and the types of specialists involved?
• What specific clinical details or interactions did you notice were most significant in influencing the final clinical decision-making process?
• Which ‘reflect-in-action’ moments did you notice where you had to adapt your communication or technical explanation as the discussion unfolded?
• What were your feelings during the liaison, particularly when providing specialist advice that directly impacted patient management?

What did you learn from the activity?

• What specific knowledge or skills did you develop regarding the employment of specialist genomic knowledge to ensure a safe and high-quality service?
• How has this experience improved your ability to demonstrate appropriate communication skills when tailoring complex genomic information for different healthcare colleagues?
• What did you learn from any unexpected challenges or successes during the liaison, such as successfully justifying a testing strategy or navigating a difference in clinical opinion?
• In what ways did your real-time decisions—such as asking for clinical clarification or adjusting your terminology—influence the consensus reached by the multidisciplinary team?
• How does this experience of interprofessional liaison relate to the requirements for your future post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What areas for continued development in multidisciplinary communication or rare disease clinical pathways have you identified?
• How will you apply the learning from this activity to your routine laboratory practice to ensure genomic results are interpreted with a clear understanding of their clinical impact?
• What specific ‘next steps’ will you take to consolidate your learning, such as reviewing clinical management guidelines for the conditions discussed or seeking feedback on your communication style?
• What support or resources (e.g., access to specialist clinical databases, expert mentorship, or further MDT attendance) do you need to further develop your expertise in this area?

Beyond action

Have you revisited the experiences?

• How have you re-evaluated your initial contributions to the multidisciplinary discussion in light of subsequent learning about the clinical impact of specific rare disease variants and their inheritance patterns?
• How do the communication strategies you employed during this liaison compare to the professional behaviours and interprofessional practices you have since assimilated into your routine work?
• When reviewing your reflections across the module as a whole, what overarching themes have you identified regarding your ability to correlate genomic findings with clinical phenotypes during professional discussions?
• In what ways has discussions with peers or senior colleagues about complex MDT cases changed your view on how to navigate differing clinical opinions regarding variant significance?

How have these experiences impacted upon your current practice?

• How have you applied the specialist knowledge of rare disease testing – gained from this liaison activity—to inform your interpretative decision-making for other patient groups, such as those in Prenatal or Cancer Genomics?
• How has your current practice in communicating complex technical data developed based on your understanding of the information needs of different specialists, such as clinicians, genetic counsellors, or nursing staff?
• In what ways has the learning from this liaison supported your preparation for ‘in-person’ assessments, such as an Observed Communication Event (OCE) where you must provide advice to another healthcare professional?
• How has your ability to provide specialist advice during high-pressure clinical discussions evolved as you have gained a more holistic view of the rare disease patient pathway?

How might these experiences contribute towards your future practice?

• What transferable skills in professional collaboration and clinical reasoning have you developed that will allow you to effectively lead or contribute to multidisciplinary genomic case reviews in the future?
• What clear actions for continued development have you identified to ensure you stay current with evolving national guidelines and specialist clinical management strategies for rare diseases?
• How will your appreciation for the ethical and clinical dimensions discussed in these forums shape the sensitive approach you will take towards patient-centred care in your future career?
• In what ways will your current mastery of interprofessional liaison help you contribute to future service improvements or innovations in how genomic results inform patient management?

Relevant learning outcomes

#	Outcome
# 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.