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The University of Southampton

MEDI6214 Ethical, Legal and Social Issues in Applied Genomics

Module Overview

Many genomic tests have wider implications for the patient and their family, particularly where these may have a predictive aspect, provide incidental information, have potential for being misleading or increase uncertainty. The student will explore the ethical, legal and social issues (ELSI) involved in genomic testing and in specific integrated pathways

Aims and Objectives

Module Aims

The module aims to provide a framework for ethical understanding of medical genomics. Students will be provided with a platform of ethical understanding from which to consider issues of human confidentiality, autonomy, disclosure, informed consent and natural justice. Upon this platform, students will consider the impact of genomic technologies on individual lives and those of demographic and ethnic groupings. The social implications of the availability of genetic testing and screening will be considered, especially in the context of reproductive technologies. Finally students will be provided with a legal framework for patenting of genetic information as well as the use of genetic data for research, diagnostic and therapeutic purposes.

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

  • Critically apply the ethical principles of confidentiality, autonomy, disclosure, informed consent and natural justice to scenarios within genomic medicine in a global context
  • Critically evaluate the challenges of emerging genomic technologies on society and societal values
  • Critically appraise the current legal framework within which genomic medicine in practised in the UK and other jurisdictions
  • Identify and critically evaluate the ethical, legal and social impact of genomic medical advances in a clinical pathway
  • Critically evaluate the Helsinki Declaration under which all medical research is performed with specific reference to genetic research
  • Critically appraise the global impact of genetic databases on individual autonomy and healthcare provision, and assess their potential for discrimination
  • Identify clinical pathways in their own specialty or field of practice where the use of genomic investigation/techniques may be beneficial to patients, and assess their potential benefits and drawbacks


• ELSI issues for genomic medicine – confidentiality, autonomy, disclosure, informed consent, natural justice • Effects of opportunistic predictive, incidental or uncertain-significance results • Impact of genomic testing on individuals, and demographic and ethnic differences • Social implications of genetic testing and screening, particularly in the context of human reproduction • Legal aspects of genomic information in relation to diagnostic, therapeutic, and research use and patenting of genomic information and tests • Ethical issues in genetic research • Specific ELSI as applied to clinical pathways

Special Features

The module will be taught by an international faculty, at the forefront of their respective academic disciplines and professions. Adult learning methods will be used throughout and an emphasis placed upon interactive learning, practical demonstration and the interpretation of clinical scenarios to reinforce learning. Extensive e-learning facilities will be available to foster independent study

Learning and Teaching

Teaching and learning methods

The module will comprise two blocks of two days' intensive on-site teaching, each followed by a period of independent study. A variety of learning and teaching methods will be adopted to promote a wide range of skills and meet the differing learning styles of the group. The on-site teaching will include interactive lectures and facilitated seminars. Both academics and healthcare professionals will contribute to teaching to ensure a breadth and depth of perspective, giving a good balance between background theories and principles and practical experience. Students will work in small group learning sets throughout the module to support each other’s learning. The groups can be used for students to share resources, discuss ideas, give each other feedback etc. Each group will have a named tutor who can act as an advisor when needed. Off-site independent learning will take place on the virtual learning environment hosted by the UoS.

Independent Study122
Total study time150

Resources & Reading list

Lucassen, Anneke and Parker, Michael (2010). Confidentiality and sharing genetic information with relatives. The Lancet. ,275 , pp. 1507-1509.

Shkedi-Rafid S, Dheensa S, Crawford G, Fenwick A & Lucassen A (2014). Defining and managing incidental findings in genetic and genomic practice. Journal of Medical Genetics. ,51 , pp. 715-23.

Gilbar R (2005). The Status of the Family in Law and Bioethics: The Genetic Context. 

Wilkinson S & Gerrard E (2013). Eugenics and the ethics of selective reproduction. 

de Vries J, Bull S, Doumbo O, Ibrahim M, Mercereau-Puijalon O, Kwiatkowski D &Parker M (2011). Ethical issues in human genomics research in developing countries. BMC Medical Ethics. ,12 .

Useful websites.

Berliner J.L (2014). Ethical Dilemmas in Genetics and Genetic Counseling: principles through Case Scenarios. 

Lucassen A & Houlston, R (2014). The challenges of genome analysis in the health care setting. Genes. ,5 , pp. 576-585.

Otten E, Plantinga M, Birnie E, Verkerk M A, Lucassen A, Ranchor A V & Van Langen I M (2014). Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.. Genetics in Medicine. .


Assessment Strategy

The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. There will be two components to the assessment i) An oral presentation and ii) 3000 word written assignment. Students can choose which component will assess which learning outcomes, and all learning outcomes must be covered. The oral presentation is assessed as pass/fail and the pass mark for the written component is 50%. Both components must be passed to pass the module. If you fail the module, you will have the opportunity to submit work at the next referral (re-sit) opportunity using the method outlined below. You must achieve the pass mark in the referred component. On passing your referral, your final module mark will be capped at 50%.


MethodPercentage contribution
Oral presentation  (20 minutes) %
Written assignment  (3000 words) 100%


MethodPercentage contribution
Written assignment  (3000 words) 100%

Repeat Information

Repeat type: Internal & External

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