Module information
Module details
- Title
- Applied Genomics and Bioinformatics in Advanced Clinical Care
- Type
- Specialist
- Module code
- S-GC-S4
- Credits
- 15
- Phase
- 3
- Requirement
- Compulsory
Aim of this module
This module will provide the trainee with an in-depth understanding of the role of genomic testing as part of a multidisciplinary approach to establishing a genetic diagnosis. They will develop the expertise to support the diagnostic process through exploration of the relationship between genotype and phenotype. The trainee will also extend their understanding of genomics and how the patient’s phenotype and the family history can contribute constructively in determining the pathogenicity of variants. The trainee will develop their understanding of teaching approaches in clinical education and the application to genomic healthcare.
Work-based content
Training activities
| # | Learning outcome | Training activity | Type | Action |
|---|---|---|---|---|
| # 1 | Learning outcome 2, 4 |
Training activities
Observe multidisciplinary clinics and team meetings across a range of specialisms and reflect on the role of the Genetic Counsellor |
Type DTA | Action View |
| # 2 | Learning outcome 1,2,3 |
Training activities
Work alongside medical colleagues to facilitate genomic testing within the diagnostic pathway, in a range of rare and complex conditions, to include:
|
Type ETA | Action View |
| # 3 | Learning outcome 1,3 |
Training activities
Prepare and deliver trainee led advanced genetic counselling for complex genomic testing within a range of subspecialties |
Type ETA | Action View |
| # 4 | Learning outcome 1,2 |
Training activities
Synthesise and critically analyse literature from reputable sources to compile information on the clinical presentation and course of a range of rare and/or complex inherited diseases and established clinical phenotypes, in readiness for consultations |
Type ETA | Action View |
| # 5 | Learning outcome 1,2 |
Training activities
Use patient history and medical records with results from genomic analysis to determine management of genetic conditions (linking phenotype to genotype) |
Type ETA | Action View |
| # 6 | Learning outcome 1,3 |
Training activities
Synthesise and relay condition-and life-stage-specific information to patients in a range of consultations, using appropriate language and communication aids where applicable |
Type ETA | Action View |
| # 7 | Learning outcome 2 |
Training activities
Within a consultation, discuss suitable investigations to assist with diagnosis where a genetic/genomic test is not available or initially indicated |
Type DTA | Action View |
| # 8 | Learning outcome 2 |
Training activities
Contribute to the presentation of cases in multidisciplinary team settings, taking into account relevant medical, family, and psychosocial histories, and how they may contribute to the diagnostic pathway where genomic testing approaches may be considered |
Type DTA | Action View |
| # 9 | Learning outcome 1,3 |
Training activities
In a consultation, using language appropriate for patients, describe how genomic variants may be interpreted, as well as the challenges and limitations of this process |
Type ETA | Action View |
| # 10 | Learning outcome 1,2,3 |
Training activities
Provide advanced genetic counselling input for the management of genomic test results in the reproductive setting |
Type ETA | Action View |
| # 11 | Learning outcome 1,4 |
Training activities
Within genomic counselling sessions, describe in lay terms, how genomic tests contribute to current and future management of conditions |
Type ETA | Action View |
| # 12 | Learning outcome 4 |
Training activities
Discuss with patients or other health professionals the benefits and limitations of private and/or direct to consumer genomic testing |
Type DTA | Action View |
| # 13 | Learning outcome 3,4 |
Training activities
Discuss with patients or other health professionals the challenges of risk prediction in multifactorial disease |
Type ETA | Action View |
| # 14 | Learning outcome 5 |
Training activities
Deliver a range of educational sessions tailored to groups of non-genetic health professionals |
Type DTA | Action View |
| # 15 | Learning outcome 2, 4 |
Training activities
Assist in a specialist multidisciplinary clinic providing genetic counselling expertise in collaboration with mainstream specialist healthcare professionals |
Type DTA | Action View |
Assessments
Complete 3 Case-Based Discussions
Complete 3 DOPS or OCEs
Direct Observation of Practical Skills Titles
- Deliver a teaching session with attention to specific needs of the audience and reflect on the experience and evaluation.
- Discuss the results of a panel test and interpret whether it explains the phenotype observed and the implications for patient management.
Observed Clinical Event Titles
- Counsel a patient about the implications of whole genome/exome sequencing and obtain consent.
- Explain the results of a panel, exome or whole genome sequencing test to a patient.
- Explain a VUS, including its classification and evidence for pathogenicity, using language appropriate to a patient.
- Discuss molecular findings from a panel, exome or whole genome sequencing test for management of a case at a multidisciplinary team meeting.
Learning outcomes
| # | Learning outcome |
|---|---|
| 1 | Apply counselling skills to lead consultations involving genomic testing in complex scenarios. |
| 2 | Employ knowledge of patient pathways in a range of healthcare settings to contribute to the Genetic Counsellor’s expertise as part of a multidisciplinary team. |
| 3 | Discuss rare and complex genetic and genomic conditions with patients, tailoring communication to ensure the needs of the patient are met. |
| 4 | Compare the benefits and limitations of genomic screening for risk prediction and advise on their application/use in practice. |
| 5 | Prepare, deliver and evaluate teaching sessions in genomics for healthcare professionals and the public. |
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
- Shadow a medical colleague interpreting the results of diagnostic genomic test.
- Attend a patient support day, community, school or patient engagement event.
- Observe a range of approaches to teaching in various settings to both academic and lay audiences.
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:
- Describe the clinical presentation over time of a range of commonly encountered genetic and genomic conditions.
- Explain the genetic mechanisms and inheritance patterns underpinning a range of inherited conditions and also the genetic and genomic contribution to multi-factorial conditions.
- Critique resources and guidelines relevant to a specific clinical situation.
- Discuss the concept of differential diagnoses and critically evaluate investigations, including their underpinning evidence base, required to discriminate between conditions.
- Critically appraise the application of genetic and genomic testing to clinical situations including the potential uses and limitations for supporting the family and collaborative decision-making.
- Critically appraise ways of presenting risk and methods for calculating risks from family pedigrees and empiric data.
- Discuss how psychosocial issues are considered during the process of genetic diagnosis and the importance of the partnership with the individual/family.
Indicative content
Diagnosis, testing and management
- The genetic basis of disease and the mechanisms of pathogenesis (e.g. single gene variants, chromosomal abnormalities, triplet repeats, imprinting and mitochondrial disease)
- Clinical presentation and assessment of patients within a patient centred service
- How to promote shared decision making while respecting culture, equality and diversity
- Critically appraise and synthesise the literature and databases that underpin best practice guidelines (including NICE guidance)
- Diagnostic and prognostic significance of genetic and genomic test results
- Application of techniques for diagnosis including latest technologies (clinical exam/history, radiology, biochemistry, genomic analysis and arrays)
- Selection of appropriate diagnostic tests (biochemical, histochemical and single gene/genomic)
- Ordering of appropriate clinical investigations, receiving laboratory reports and delivering appropriate interpretation of results for risk assessment and decision- making
- Timely and appropriate delivery of results
- Clinical features of the genetic condition including course and prognosis
- Appropriate interpretation of risk and management options, including screening and prevention options
- The clinical scientific, ethical and legal requirements of prenatal, paediatric, presymptomatic, carrier and diagnostic testing
- Social and psychological impact of genetic testing
- Awareness of approaches to presenting risk information to patients (e.g. life time risk, age related risk etc.)
- Understanding research options within the clinical management pathway
Multidisciplinary working
- The role of different clinical specialties in the care of patients with genetic conditions
- When and how to refer for clinical screening and management where appropriate
- Multidisciplinary practice, boundaries, diagnostic pathways and multidisciplinary care
- Role of clinical management processes including clinical supervision (AGNC definition of clinical supervision) and multidisciplinary team meetings
- How to evaluate personal professional practice including identifying one’s own limitations, within the context of the professional practice guidelines of the Genetic Counsellor Registration Board (GCRB)
- Limits of the concept of confidentiality
- The principles of information governance and awareness of the safe and effective use of health and social care information