Module information
Module details
- Title
- Cancer
- Type
- Specialist
- Module code
- S-G-S4
- Credits
- 20
- Phase
- 3
- Requirement
- Compulsory
Aim of this module
This module will provide the trainee with a knowledge and understanding of the role and application of genetic and genomic testing in the diagnosis and management of patients with sporadic cancers and those with germline susceptibility.
The content for this module will focus on (as exemplars) patients who present with acquired cancers including AML, ALL, ovarian, colorectal and lung cancer, and for those patients with germline cancer susceptibility including breasts/ovarian, Lynch and FAP.
Work-based content
Training activities
| # | Learning outcome | Training activity | Type | Action |
|---|---|---|---|---|
| # 1 | Learning outcome 1,2 |
Training activities
Select the correct genetic tests for patients referred with acquired haematological malignancies, to include:
|
Type DTA | Action View |
| # 2 | Learning outcome 1,2 |
Training activities
Select the correct genetic tests for patients referred with acquired solid tumours, to include:
|
Type DTA | Action View |
| # 3 | Learning outcome 1,2 |
Training activities
Select the correct genetic tests for circulating tumour referrals, to include:
|
Type DTA | Action View |
| # 4 | Learning outcome 1,2 |
Training activities
Select the correct genetic tests for patients referred with germline cancer susceptibility, to include:
|
Type ETA | Action View |
| # 5 | Learning outcome 1,2 |
Training activities
Select the correct genetic tests for pharmacogenetic testing in oncology patients, to include:
|
Type DTA | Action View |
| # 6 | Learning outcome 1,2 |
Training activities
Select the correct genetic tests for gene fusion testing on oncology samples to include;
|
Type DTA | Action View |
| # 7 | Learning outcome 3 |
Training activities
Analyse the appropriate genetic testing for haematological malignancy referrals, to include:
|
Type DTA | Action View |
| # 8 | Learning outcome 3 |
Training activities
Analyse the appropriate genetic testing for solid tumour referrals, to include:
|
Type DTA | Action View |
| # 9 | Learning outcome 4 |
Training activities
Analyse the appropriate genetic tests for circulating tumour referrals, to include:
|
Type DTA | Action View |
| # 10 | Learning outcome 5 |
Training activities
Analyse the appropriate genetic testing for germline cancer susceptibility referrals, to include:
|
Type ETA | Action View |
| # 11 | Learning outcome 6 |
Training activities
Analyse the appropriate genetic tests for pharmacogenetic testing in oncology patients, to include:
|
Type DTA | Action View |
| # 12 | Learning outcome 3, 7 |
Training activities
Analyse the appropriate genetic tests for gene fusion analysis, to include:
|
Type DTA | Action View |
| # 13 | Learning outcome 3 |
Training activities
Interpret and report on a range of genetic testing in haematological malignancies, to include:
|
Type DTA | Action View |
| # 14 | Learning outcome 3 |
Training activities
Interpret and report on a range of genetic testing in solid tumours, to include:
|
Type DTA | Action View |
| # 15 | Learning outcome 4 |
Training activities
Interpret and report on genetic testing for circulating tumour referrals to include;
|
Type DTA | Action View |
| # 16 | Learning outcome 5 |
Training activities
Interpret and report on a range of genetic testing in germline cancer susceptibility, to include:
|
Type ETA | Action View |
| # 17 | Learning outcome 6 |
Training activities
Interpret and report pharmacogenetic testing in oncology patients, to include:
|
Type DTA | Action View |
| # 18 | Learning outcome 3, 7 |
Training activities
Interpret and report gene fusion testing, to include:
|
Type DTA | Action View |
| # 19 | Learning outcome 1,2,3,4,7 |
Training activities
Participate in service delivery for the somatic cancer service |
Type DTA | Action View |
| # 20 | Learning outcome 1,2,5,6 |
Training activities
Participate in service delivery for the germline cancer service |
Type ETA | Action View |
Assessments
Complete 4 Case-Based Discussions
Complete 4 DOPS or OCEs
Direct Observation of Practical Skills Titles
- Analyse and interpret results for a somatic genetic investigation.
- Analyse and interpret results for a germline genetic investigation.
- Analyse and interpret results for a ctDNA genetic investigation.
- Analyse and interpret results for a pharmcogenetic investigation.
- Analyse chromosomes from a haematological malignancy.
- Analyse and interpret results for a gene fusion genetic investigation.
- Classify a somatic or germline variant.
- Identify if a referral is appropriate for the testing required.
- Prepare a clinical report.
Observed Clinical Event Title
- Provide advice to another healthcare professional on the requirements for a sample for a somatic cancer investigation.
- Provide advice to another healthcare professional on the requirements for a sample for a germline cancer investigation.
- Identify results from testing with another healthcare science specialty which are relevant to the results of a cancer genetic investigation.
- Provide an urgent result to another healthcare professional.
Learning outcomes
| # | Learning outcome |
|---|---|
| 1 | Apply appropriate sample selection criteria for the commonly referred cancer samples, taking into account the implications of the referral with respect to sample type, sampling mixed cell populations, limits of detection, sensitivity of assay and patient management. |
| 2 | Select the laboratory testing strategy for the commonly referred cancer samples at all stages of the patient pathway. |
| 3 | Analyse, interpret and report tests for patients referred with sporadic cancer. |
| 4 | Analyse, interpret and report on genetic testing for circulating tumour referrals. |
| 5 | Analyse, interpret and report tests for patients referred with germline cancer. |
| 6 | Analyse, interpret and report pharmacogenetic testing in oncology patients. |
| 7 | Analyse, interpret and report gene fusion testing in cancer referrals. |
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.
- Visit histopathology to appreciate sample preparation prior to genetic testing.
- Attend a cancer clinic to appreciate patient experience and the role of genetics in the patient pathway.
- Attend a genetic counselling session for familial cancer to appreciate feedback of information to patient, impact on patients and the role of genetics in the patient pathway.
- Observe a bone marrow sample being taken to appreciate the patient experience.
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:
- Demonstrate extended understanding of the biological basis of oncogenesis.
- Explain the use of genetic and genomic testing in acquired and inherited malignancies with specific reference to diagnosis, prognosis, monitoring and treatment.
- Explain the clinical presentation and assessment of patients with the common referrals for acquired and inherited cancers.
- Critically evaluate the design, operation and performance of a range of genetic and genomic tests relevant to cancer.
- Apply integrative knowledge of genomic testing of cell free tumour DNA in blood, for the diagnosis and monitoring of solid cancers.
- Discuss the implications of the genomic tests considering diagnosis, prognosis and treatment of cancer patients within a patient-centred service, considering the views and wishes of patients and their families.
- Discuss the partnership between genetics services and other clinical specialisms in the cancer patient’s care pathways and the impact of national and international guidance.
- Describe the role of clinical trials and the requirements for genetic and genomic testing therein.
Indicative content
- The role of loss of heterozygosity (LoH).
- Knudson’s two hit hypothesis.
- Methylation in cancer development.
- Oncogenes and tumour suppressor genes.
- The concept/importance of driver and passenger mutations.
- Clinical presentation, genetic mechanisms and testing strategies relevant to acquired cancers, to include:
- ALL
- AML
- Sporadic colorectal cancer.
- Sporadic ovarian cancer.
- Non-small cell lung cancer.
- Clinical presentations, genetic mechanisms and testing strategies relevant to germline cancer susceptibility syndromes, to include:
- Breast/ovarian.
- Lynch
- FAP
- Understand the principles and interpret the results of pharmacogenetic testing in oncology patients, to include DPYD.
- Understand the importance of and testing strategies for gene fusions relevant to diagnosis and treatment in oncology patients, to include NTRK.
- Understand genomic testing of cell free tumour DNA in blood, for the diagnosis and monitoring of solid cancers.
- Diagnosis of cancer using a multidisciplinary approach.
- The use and limitations of a range of sample types to analyse tumour DNA, including:
- Formalin fixed paraffin embedded material.
- Fresh frozen tumour tissue.
- Cell free circulating tumour DNA.
- Bone marrow and peripheral blood.
- Challenges of the analysis of mixed cell populations and sampling for testing.
- Rearrangements and translocations commonly associated with the exemplars given above, their clinical significance and the methods used to detect them.
- Interpret archived results based on older technologies and discuss the implication and limitation of these results for the patient and family.
- Awareness of the importance of turnaround time in the pathway of care.
- Role of multidisciplinary team meetings and international guidance, such as improving outcomes guidance and NICE guidelines in the cancer patient care pathways.
- Consent for testing and sample storage.
- Follow-up management including repeat testing for disease and treatment monitoring with consideration of the principles underpinning quantitation of residual disease, e.g. ALL.
- Cancer prognosis and clinical care pathways associated with precision medicine.
- Use of genetic and genomic testing in monitoring the efficacy of treatment in cancer and named leukaemic types (including bone marrow transplantations).
- Use of current actionable genetic biomarkers in the management and treatment of cancer including acquired resistance mutations.
- The basis of large scale national and international projects focused on cancer and the importance of clinical trials.