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StepsDetermine patient eligibility for a specific genomic/genetic testDiscuss genomic/genetic testingConsent for testingCollection of sample, recording and requesting genomic/genetic testingFundamental principles relevant to all stepsKEY:

G: General competency
P: Pathway-specific competency
St: Step-specific competency
K: Knowledge
S: Skills
A: Attitudes
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Identify
learning
needs		1. Demonstrates awareness of the eligibility criteria of genetic testing in patients with epilepsy. P K 1. Determines patients'/families' understanding, expectations and concerns and addresses these appropriately. St S1. Applies consent principles for genomic testing in an individualised and non-coercive manner, with an appreciation of relevant professional guidance and legislation. St S1. Demonstrates where to find the test request form(s) and how to complete it/them. St S1. Describes the fundamental principles of genomics and inheritance patterns. G K
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2. Demostrates a detailed understanding of the patient’s phenotype (symptoms) and their clinical presentation. P K2. Utilises communication skills to discuss complex genomic information at a level appropriate for the patient/family. St S2.Recognises the ethical, legal and insurance implications of genomic testing. St K2. Describes the local governance processes for sample collection and transportation to regional genomic laboratory hub (GLH). St K2. Recognoses and acts within professional / role-specific boundaries and competencies, and understands when to seek multidisciplinary support or refer to relevant specialists for further support. G A
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3. Clarifies how to access and interpret current National Genomic Test Directory criteria and the significance of R numbers and Panel App. St S3. Describes the potential benefits and outcomes of testing for the patient, as well as potential implications for their family members, and conveys these effectively to the patient. St S3. Identifies where to find the record of discussion form and how to complete it in line with national and local governance processes. St S3. Can recall national and local requirements on blood samples. St K3. Demonstrates how to access educational resources to support learning where relevant (such as Good Clinical Practice training and Genomics Education Programme courses). G S
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4. Recognises the difference between the genomic/genetic tests available to test a patient with epilepsy and can identify the most appropriate test. St KS4. Recognises different decision-making styles of patients/families', potential reasons behind them, and understands how to support them. St S4. If applicable, gains consent for research, conveying the implications of consenting to participation in the National Genomics Research Library. St S4. Recognises the significance of parental samples in genomic testing, if applicable.St A/K4. Explains all relevant clinical pathways, including routes for accessing advice and support including your local GLH & CGS. Works collaboratively with colleagues and specialties in applying pathways and protocols. G K
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5. Demonstrates awareness of the relevant resources for signposting. G K5. Communicates how and when patients will receive results. St S5. Demonstrates knowledge of all avenues of patient support, including resources and onwards referral, and communicates these to patients. Identifies when patients need additional support from another healthcare professional. G K
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6. Employs the communication and counselling skills needed to engage and communicate effectively in a compassionate manner with patients, carers and wider family. G S
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7. Describes the importance of, and demonstrates, appropriate and effective written documentation and correspondence with patients and other healthcare professionals. G S
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Identify
resources		Course: Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease (1,2,3,4)

Course: Facilitating genomic medicine: discussing diagnostic germline tests (1, 2, 3,4)
Article: Counselling the code: genomic testing and insurance (2)

GeNotes: How to complete the test order form and record of discussion form (1,2)

Course: Genomics 101 (1,6)

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GeNotes: Adult with epilepsy likely to be genetic in origin (1,2,3,4)Resource: Finding a genomic cause: the clinician's role (1,2,3,4)

GeNotes: How to complete the test order form and record of discussion form (3)

Resource: Requesting whole genome sequencing: information for clinicians (1, 2, 3, 4)

Genomics Education Programme (3)

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Website: Human Phenotype Ontology (2)

Films: Let’s Talk About Genetic Testing (1, 2,3,4)

Course: Facilitating Genomic Testing series (Introduction, Discussing Diagnostic Tests, Discussing Germline Tests (1, 2, 3, 5)

PDF: Clinician's guide to requesting WGS: rare disease (1, 2, 3, 4)

Good Clinical Practice Training (3)

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NHS England: National Genomic Test Directory (3)

Resource: The different types of genomic test results (3)
Course: Facilitating Genomic Testing: The National Genomic Research Library (4)

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GeNotes: Technologies collection (4)

Website: Epilepsy Action (5)Resource: The Care Act 2014 - Safeguarding Adults (1)
Resource : Test Request form NHS England (1)
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Resource: PanelApp (3)
Website: Young epilepsy (5) Resource: Mental Capacity Act (1)

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Website: Epilepsy Society (5)
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Website: Genetic Alliance UK (5)
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Course: NHSE elfh Hub (e-lfh.org.uk) Genomics in Clinical Practice: A work-based learning module (1,2,3,4)
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Webpage : Genetic Alliance UK: Benefits and risks of genetic testing (3)
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Identify workforce
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Consultant Neurologist (Neurology CNS in some services)
Consultant Neurologist or Neurology CNS
Consultant Neurologist or Neurology CNS
Consultant Neurologist or Neurology CNSAll
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