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Last updated: Jan 11, 2019

Why conduct clinical genomics research?

Genomics in its simplest sense uses modern technologies to study genes and their functions [1].

So-called ‘next generation’ or massively-parallel genomic sequencing technologies can capture and analyse hundreds or thousands of genes or sections of DNA at once to identify genetic variants. This information can complement data from related ‘omics’ technologies—including gene expression, protein products or cellular metabolites—to provide insights into the complex influences of lifestyle and environment on human health and disease.

Genomic information has the potential to:
  • Increase accuracy and efficiency in diagnosis of rare and genetic conditions
  • Stratify disease and clarify subtypes
  • Assess individuals’ predisposition to disease
  • Inform the selection of therapeutic options for care or plans for prevention
  • Understand the contribution of rare and common genetic variants in common disease
Challenges in clinical genomics research:
  • Limitations and applications of new technologies
    • Different types of platforms and analyses have different purposes, benefits and limitations
    • More data captured at higher resolution leads to more variants, bigger data sets, access and processing challenges
Complexity of information
  • Not all people with a particular genetic change or variant will develop all features of the relevant disorder (due to variable expression; incomplete penetrance)
  • Interpretation of genomic information varies depending on the context in which it is applied and the phenotypic (observable/clinical) information that is available e.g. diagnostic vs predictive settings; childhood vs. adult; somatic vs. germline
  • Analysis of more data can reveal incidental or secondary findings and many more variants of unknown or uncertain significance
  • Shared nature of genomic information and implications for a participant's family and community
    • Genomic information is shared between family members so confidentiality must be balanced with families rights for results, disclosure and data sharing
  • Limitations and rapid changes in the evidence base for genetic associations
    • Dealing with uncertainty is a key component of genomics due to the incomplete and rapidly changing evidence base used to identify associations between variants and disease

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