Use of Personalized Genomic Information


Advances in deoxyribonucleic acid (DNA) sequencing technologies have driven down the cost of obtaining individualised genomic information, however, interested parties must consider the potential benefits and risks to the individual in applying this data to healthcare. Previously, the cost of genetic testing was such that it was used sparingly to query a small number of genes and only in cases in which there was a high pretest probability of a diagnostic result. It is now possible to receive whole‐genome data for similar costs. While technically feasible, our collective ability to interpret variation observed in the entire genome has not progressed as quickly as the technology. Currently, only a small fraction of observed variation in the human genome is interpretable with certainty. There exists a risk of over‐interpretation of variants of uncertain significance; therefore, individuals with interest in the personalised use of this information should seek consultation with clinical experts.

Key Concepts:

  • Personalised use of genomic information as a tool in clinical medicine is not a new concept; genomic information has long been used to guide patient care. Traditional clinical genetic and genomic testing has been used in selected patients for decades.

  • Advances in DNA sequencing technology, namely the advent of next generation sequencing techniques, have improved accuracy, decreased costs, and led to whole genome, whole exome, and multi‐gene panel sequencing as new offerings in clinical molecular testing; these new methods add to traditional approaches of Sanger sequencing, multiplex ligation‐dependent probe amplification (MLPA), array‐based chromosomal analysis and karyotype, among others.

  • While whole genome sequencing allows for rapid reading of an individual's entire genetic code, the analytic interpretation of this data has not yet met the speed and precision of the sequence acquisition.

  • Given the current state of technology, whole exome and whole genome sequencing will be best employed in a select subset of patients as a diagnostic test at this point in time.

  • Widespread application of whole genome sequencing in all patients will eventually be feasible, but at the current time application of these technologies could raise significant uncertainty, in the form of incidental findings, variants of uncertain significance and uninterpretable data. Targeted sequencing or targeted analysis of data can be used with currently available tools to provide useful diagnostic information in some individuals.

  • High definition clinical genomics (HDCG), where the detailed effects of any DNA sequence variant is understood at the individual nucleotide level, will be achieved sometime in this century and will lead to significantly greater utility in the use of genomic technologies to personalise health management.

Keywords: whole‐genome sequencing; whole exome sequencing; next‐generation sequencing; personalised medicine


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Giovanni, Monica A, and Murray, Michael F(Nov 2014) Use of Personalized Genomic Information. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0024126]