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Last updated: May 15, 2018

Introduction to clinical genomics research

Clinical genomics aims to improve the health of the population through innovative clinical care [1].  Clinical genomics is an emerging discipline that involves using genomic information about an individual, an individual’s cancer or an infectious organism(s) as part of clinical care (e.g. for diagnostic and/or therapeutic decision-making) and the health outcomes and policy implications of that use [1].

Genomics has the potential to be transformative in healthcare, but it must be underpinned by strong clinical research evidence.  NSW is developing leading genomic research and technological capabilities through world class medical research institutes [2].

Challenges specific to human genetic and genomic research
  • Genetics is about the family – many of an individual’s genetic variations are shared with blood relatives (Issues: privacy, family communication)
  • Genomic research can reveal information about risk or predisposition to developing a condition rather than be specifically diagnostic (Issues: insurance, psychosocial impact, overdiagnosis)
  • Genomic technologies and data are complex and sequencing approaches impact on results (Issues: requires range of expertise, strengths and limitations of technologies)
  • Genomic research generates complex information and results (Issues: results require high level interpretation, both skilled and comprehensive process of returning results to individual(s), data management, managing uncertainty).

These factors and the blurring of boundaries between the clinical and research settings, especially when research participants are patients and when the researcher could also be their clinician, means it is harder to distinguish the responsibilities of each person [3]

About this Resource

Resource Aim
  • Introduce clinicians and clinician-researchers to genomics research
  • Familiarise researchers and reviewers, such as Human Research and Ethics Committee (HREC) members, with key considerations for conducting clinical genomics research.

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Learning Objectives

After reading this Resource, you will be able to:

  1. Outline features of clinical genomic research; 
  2. Identify key ethical considerations in genomics research;
  3. Outline a roadmap to develop an ethically defensible plan in clinical genomic research;
  4. Recognise skill sets required to conduct clinical genomics research;
  5. Outline processes for participant engagement and interaction;
  6. Explain key methods in genomic data capture, analysis and results interpretation;
  7. Understand the range of possible findings and results that may emerge and their possible impact on individuals and families;
  8. Appreciate possible obligations in returning results and whether or not to disclose; and
  9. Locate further relevant or required resources.

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This resource is an introduction to clinical genomics research. It will step you through the process of conducting genomics research, including key considerations at each stage. It has been developed to complement expert advice and existing resources including,

  • the Centre for Genetic Education (CGE) factsheets
  • the NHMRC genomics guidelines
  • National Statement on Ethical Conduct in Research in Humans
  • NSW State-wide Biobank Consent policy.

This resource is not a template for conducting clinical genomics research and we advise consulting with relevant experts in the field before undertaking a project.

This resource focuses on human genomics and germline data and does not address, somatic genomics, Genome-Wide Association Studies (GWAS), non-human or pathogen genomics, in depth.  It is not targeted to individuals who are already involved in genomics research, clinical genomics or related fields.

Genomics is a rapidly evolving field and as such technologies, legislation, guidelines and best practices discussed are subject to change. The Centre for Genetics Education we will endeavour to update this resource where possible. Please contact the Centre for Genetics Education with any feedback and comments.

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[1] Genomic Medicine and Health Care (2016) NIH National Human Genome Research Institute. https://www.genome.gov/27527652/genomic-medicineand-health-care/ 

[2] NSW Health Genomics Strategy (2017). NSW Ministry of Health. http://www.health.nsw.gov.au/services/Publications/nsw-health-genomics-strategy.pdf

[3] Souzeau E, Burdon K P, Mackey D A, Hewitt A W, Savarirayan R, Otlowski M, and Craig J E. (2016) Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.  Translational vision science and technology Vol. 5,1,1-11.