Module information
Module details
- Title
- Paediatric Genomics
- Type
- Specialist
- Module code
- S-G-S1
- Credits
- 10
- Phase
- 2
- Requirement
- Compulsory
Aim of this module
This module aims to provide the trainee with the knowledge required to diagnose paediatric patients with rare inherited disorders using genomics. Trainees will develop the skills to apply genomic testing for paediatric patients with rare inherited disorders and understand the implications of results on family members.
This module includes the following conditions as exemplars: newborns who present as dysmorphic, hypotonic or with ambiguous genitalia, paediatric patients referred for cystic fibrosis (CF), myotonic dystrophy, fragile X, spinal muscular atrophy, Prader-Willi and Angelman syndrome, Duchenne and Becker muscular dystrophies, disorders of sexual differentiation, learning disabilities or delayed puberty.
Work-based content
Training activities
| # | Learning outcome | Training activity | Type | Action |
|---|---|---|---|---|
| # 1 | Learning outcome 1 |
Training activities
Select the correct genetic test(s) for a range of paediatric patient samples referred for investigation |
Type ETA | Action View |
| # 2 | Learning outcome 2,4,5 |
Training activities
Analyse and interpret the results of testing for CF for paediatric patients |
Type ETA | Action View |
| # 3 | Learning outcome 2,3,4,5 |
Training activities
Analyse and interpret results for a range of genome wide copy number assays for paediatric patients, and select appropriate reflex tests |
Type ETA | Action View |
| # 4 | Learning outcome 2, 5 |
Training activities
Analyse and interpret results for a range of triplet repeat assays for paediatric patients, to include:
|
Type DTA | Action View |
| # 5 | Learning outcome 2,5 |
Training activities
Analyse and interpret results for targeted genomic dosage analysis associated with paediatric disorders, to include:
|
Type DTA | Action View |
| # 6 | Learning outcome 4,5 |
Training activities
Analyse and interpret the results of NGS sequencing for a panel of genes related to paediatric disorders |
Type ETA | Action View |
| # 7 | Learning outcome 2,5 |
Training activities
Analyse and interpret the results for an imprinting disorder, to include:
|
Type DTA | Action View |
| # 8 | Learning outcome 4,5 |
Training activities
Prepare a range of reports relevant to paediatric referrals |
Type ETA | Action View |
| # 9 | Learning outcome 1, 3, 4, 5 |
Training activities
Interpret and report copy number variants, to include:
|
Type DTA | Action View |
| # 10 | Learning outcome 1,2,3,4,5,6 |
Training activities
Participate in service delivery for paediatric services |
Type ETA | Action View |
Assessments
Complete 2 Case-Based Discussions
Complete 2 DOPS or OCEs
Direct Observation of Practical Skills Titles
- Analyse and interpret results for a paediatric genetic investigation.
- Prepare a report for a paediatric genetic investigation.
- Classify a variant.
- Identify if a referral is appropriate for the testing required.
Observed Clinical Event Titles
- Provide advice to another healthcare professional on the requirements for a sample for paediatric investigation.
- Identify results from testing with another healthcare science specialty which are relevant to the results of a paediatric genetic investigation.
- Provide an urgent result to another healthcare professional.
Learning outcomes
| # | Learning outcome |
|---|---|
| 1 | Apply appropriate testing strategies to patients referred for paediatric disorders. |
| 2 | Perform targeted analysis for patients referred with paediatric conditions. |
| 3 | Perform whole genome analysis for patients referred for paediatric disorders. |
| 4 | Interpret genomic variants, including copy number changes, and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines. |
| 5 | Interpret and report genomic testing relevant to paediatric conditions, including appropriate recommendations for patient management. |
| 6 | Employ specialist knowledge of paediatric genomics to deliver a safe and high quality paediatric genomic service. |
Clinical experiences
Clinical experiences help you to develop insight into your practice and a greater understanding of your specialty's impact on patient care. Clinical experiences should be included in your training plan and you may be asked to help organise your experiences. Reflections and observations from your experiences may help you to advance your practice and can be used to develop evidence to demonstrate your awareness and appreciation of your specialty.
Activities
- Attend multidisciplinary team meetings to appreciate the role of genetics in the patient pathway.
- Observe an element of new born screening (NBS) in another healthcare science specialty to appreciate the pathway and process for NBS.
- Observe the set-up of assays for paediatric investigations.
- Attend a paediatric clinic or ward round to appreciate the patient and family experience of testing.
Academic content (MSc in Clinical Science)
Important information
The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.
Learning outcomes
On successful completion of this module the trainee will be able to:
- Explain the clinical presentation and assessment of patients with paediatric genetic and genomic disorders.
- Discuss and critically evaluate appropriate genomic laboratory testing strategies for paediatric patients according to current best practice.
- Critically evaluate design, operation and performance of a range of genomic tests relevant to the investigation of these disorders.
- Discuss and debate the relevant clinical scientific, ethical and legal considerations in the field of paediatric genomics.
- Describe the purpose and critically evaluate how integrated working between laboratory genetics and other clinical specialisms supports patient-centred care in paediatric genomics, including diagnosis and treatment strategies for patients and their families.
Indicative content
- Clinical presentation, genetic mechanisms, relevant testing strategies of disorders relevant to paediatric genomics, to include:
- Duchenne muscular dystrophy/Becker muscular dystrophy.
- Spinal muscular atrophy.
- Prader-Willi and Angelman syndrome.
- Fragile X syndrome.
- Myotonic dystrophy.
- Cystic fibrosis.
- Disorders of sexual differentiation.
- Mitochondrial disorders.
- Targeted therapies relevant to the disorders listed above.
- Diagnostic testing strategies for acutely unwell children with a likely monogenic disorder.
- Diagnostic testing strategies for children with developmental disorders.
- Bioinformatics for the processing of large datasets.
- Interpret archived results based on older technologies and discuss the implication and limitation of these results for the patient and family.
- Consent for paediatric testing, storage of patient material and parental involvement.
- National guidelines for testing in children.
- Safeguarding children and young people.
- The importance of appropriate internal quality control and external quality assurance.
- Awareness of the importance of turnaround time in the pathway of care.
- Role of multidisciplinary team meetings to aid interpretation and guidelines such as improving outcomes guidance and NICE guidelines.
- Follow-up management for the family including recurrence risks and Bayesian calculations.