The aim of the PGCert in the Interpretation and Clinical Application of Genomic Data is to develop the student as a self-reliant and autonomous learner, capable of independent and novel thinking and having developed the skills to enable them to apply their learning to clinical practice.
The learning objectives will be achieved through a teaching scheme delivered through three key domains: knowledge, skills and attitudes. The acquisition of knowledge will be achieved through a blended learning approach of face-to-face/online teaching sessions and workshops and self-directed learning through online and library resources. A secure knowledge base will then provide a platform to develop the skills of data interpretation in the context of clinical phenotyping. This will primarily be achieved through engagement at workshop sessions, assignments and portfolio development. The third domain, attitude, emphasises the need for the clinician to develop the skills to effectively communicate complex genomic data and discuss ethical considerations such as the identification of incidental findings.
The PGCert in the Interpretation and Clinical Application of Genomic Data consists of four modules to equip you with the necessary skills and knowledge to advance your understanding in the interpretation and clinical application of genomic data.
Understanding genetic technologies
- Demonstrate knowledge and applicability of the principles behind commonly used molecular techniques
- Evaluate which laboratory investigations are most suitable for a given clinical scenario
- Critically review the processes used in issuing a laboratory report from sample checking to issuing of a diagnostic report
- Demonstrate an in depth understanding of the methodology of at least four molecular genetic techniques
- Design a panel of genes for analysis using next generation sequencing technologies applicable to a specific clinical phenotype
Clinical Interpretation of genomic data
- Analyse the key features of a genetic variant which affect the prior likelihood of pathogenicity
- Critically examine the clinical context within which a genetic variant will be interpreted
- Apply in silico variant analysis tools to evaluate genetic variants
- Critically evaluate the report generated by in silico variant analysis tools
- Demonstrate the interrogation of population level genomic databases with respect to a specific genetic variant
- Demonstrate the interrogation of mutation databases with respect to a specific genetic variant
- Critically evaluate the medical literature regarding a specific genetic variant
Communication of genetic information and ethics
- Communicate complex genetic data to patients/families effectively and sensitively
- Critically evaluate the ethical issues surrounding consent for genetic testing with an understanding and explanation of incidental findings.
- Communicate complex information about variants of unknown significance effectively to patients/families
- Evaluate the ethical considerations of genetic testing and be able to formulate cogent arguments for and against testing in specific clinical scenarios
Personal and professional development portfolio
- Assemble a portfolio that demonstrates learning and progression in the application of genetic technologies, the interpretation of genomic data and the communication of complex genetic information to patients
- Demonstrate application of the approaches undertaken in the clinical interpretation of genomic data
- Critically appraise the medical literature relevant to the interpretation of genetic data
- Reflect on the effect of genetic test results on the patient and other healthcare professionals
- Reflect on their communication skills when imparting complex genetic information to patients/families and the language that should be used in the development of patient/family directed literature
- Propose and justify approaches to continuing professional development