PE4S250 - Medical and Clinical Genomics 01 Sep 2022 - 31 Aug 2028 | Version 1

Associated Module Information

Module Code: PE4S250
Module Title: Medical and Clinical Genomics
Faculty: Faculty of Life Sciences and Education
Faculty Group: Community and Professional Practice Nursing
Faculty Sub Group: Professional Nursing Practice
Module Leader: Karl New
Module Team: John Giannios, Martha Castano-Betancourt, Sangeeta Khatter
First Intended Intake: SEP 2022 Final Year of Intake: 2027
Date Closed:
Credit Value: 20 Credit Level: 7
Language: English
Percentage of Module Taught in Welsh: 0
Equivalent Module:
HECOS codes: 100260 - healthcare science
HECOS Code Weighting: 100

Document Version Information

Version 1
Valid From 01 Sep 2022
Valid To 31 Aug 2028

Module Aims

Develop a critical understanding of the core principles and practice of medical and clinical genetics and genomics.

Content Summary

Indicative content to include topics outlined below and/or any other relevant current topics to fulfil the module aims and learning outcomes:
Genetic/Genomic and Multiomic Multiethnic Epidemiology and Preventive-Healthcare (using GWAS, TWAS, PheWAS and GWES)
Integrative Multiomics Analysis and Translation in Personalised/Precision Medicine
Genetics/Genomics Clinic, Pharmacogenomics Clinic and Preventive Genomics Clinic including PRST
Genetic, Genomic and Multiomic Profiling of Germline and Somatic Variants in Personalised Oncology
Genomic-Medicine Multidisciplinary-Team (GM-MDT)
Clinical Audit Cycle in Genomic Medicine

Learning and Teaching Methods

Activity Type Hours
Independent Study 100
Directed Study 100
Total Hours Selected 200

Learning Outcomes

# Learning Outcome
LO1 Demonstrate the ability to implement cutting edge knowledge of multiomics into healthcare practice ranging from individualised care to population health.
LO2 Demonstrate professional healthcare expertise in the application of emerging multiomics tools for the implementation of communicable and noncommunicable disease management using a multidisciplinary approach

Module Requisites

N/A

Assessment Criteria

Assessment Category Assessment Type Description Duration Word Count Weight (%) Best of? Pass Mark
Synchronous Online Assessment (Exam) Online External Examination 1 A test of knowledge and understanding through questions not known to the candidate prior to the examination. Delivered online and time constrained to normally not more than 3 hours, the examination is set externally (e.g. EASA, ICAEW) and delivery is not managed by Academic Registry or End of module examination related to medical and clinical genomics 60 N/A 30 No 40
Asynchronous Assessment Self Reflective Assessment 1 A personal record of a student’s learning experiences. It requires students to record and reflect upon their observations and responses to situations, which can then be used later to explore and analyse ways of thinking and being in context. Generally involves critical diaries, learning logs and written / visual journals or Reflective journal 0 1200 10 No 40
Asynchronous Assessment Project 1 A detailed analysis of a topic, involving some original research undertaken by the candidate who makes use of data and/or primary sources or Completion of an individual/group task related to medical and clinical genomics 0 1200 20 No 40
Asynchronous Assessment Case study 1 A concentrated inquiry into a single case or subject or Case-based scenarios and discussion forum related to medical and clinical genomics 0 2400 40 No 40

Assessment Matrix

Assessment Type Learning Outcomes
LO1 LO2
Online External Examination 1
Self Reflective Assessment 1
Project 1
Case study 1

Reading List

Textbooks:

Firth, H.V. and Hurst, J.A., (2017). Oxford Desk Reference: Clinical Genetics and Genomics. Oxford University Press.

Websites:

NHGR

Medline Plus: Genetics Home Reference

Journals:

Human Genomics

New England Journal of Medicine

Journal of Medical Genetics

Clinical Genetics

Module Specific:

Textbooks:

Rimoin, D. Connor, JM. Pyeritz, R. Korf, R. (2020) Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics?: Clinical Principles and Applications. London, U.K.: Academic Press, 2019. v. Seventh edition

Websites:

Clinical Genetics Society

American Board of Medical Genetics and Genomics

Each module reading list will consist of up-to-date peer-reviewed journal articles and studies that are continually refreshed as guidelines change and new treatments and technologies emerge.

The list is compiled during the authoring of each module to ensure currency.

Additional reading resources are supplemented by the tutors during the running of the module.