Interpretation and Clinical Application of Genomic Data

You should have or be expected to achieve, a minimum of a second class degree (2:2). For healthcare graduates a pass is required. All degrees must be awarded before 1^st August on the year of entry.

You must also hold a national training number (NTN) in clinical genetics.

We accept equivalent qualifications gained in other countries and use UKNARIC to assess. Please see our International Student Support pages for more information. If you have any questions, you can contact us at study@sgul.ac.uk

For details on English Language requirements, please see here. This is a Group 2 course.

You will be asked to outline your reasons for applying for the course in a brief personal statement. You will also need to provide two satisfactory references. See the ‘Apply’ tab for more information.

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 affects 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.

The learning objectives of this course will be achieved through a teaching scheme delivered through three key domains: knowledge, skills and attitudes. You will learn through both face-to-face/online teaching sessions and workshops, and self-directed study online and with library resources. Your knowledge base will then provide a platform to develop your skills of data interpretation in the context of clinical phenotyping. This will primarily be achieved through engagement at workshop sessions, assignments and developing your portfolio. The third domain, attitude, emphasises the need for you to develop your skills in effectively communicating complex genomic data and discussing ethical considerations such as the identification of incidental findings.

For modules one to three, there will be up to two summative assessments. Formative assessment will be provided in the form of regular meetings with your educational/laboratory supervisor. Each assessment has specific assessment criteria which will be published in the student handbook. Summative assessments include one oral presentation, two written assignments, an online multiple choice question (MCQ) examination, and communication role play. Module 4 contains assignments which enable you to apply theory to your clinical activities and allow you to demonstrate advanced application of your knowledge and skills within the your own professional practice environment.