Prioritising the application of genomic medicine

Brett Doble, Deborah J. Schofield*, Tony Roscioli, John S. Mattick

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)
27 Downloads (Pure)


The clinical translation of genomic sequencing is hampered by the limited information available to guide investment into those areas where genomics is well placed to deliver improved health and economic outcomes. To date, genomic medicine has achieved its greatest successes through applications to diseases that have a high genotype-phenotype correlation and high penetrance, with a near certainty that the individual will develop the condition in the presence of the genotype. It has been anticipated that genomics will play an important role in promoting population health by targeting at-risk individuals and reducing the incidence of highly prevalent, costly, complex diseases, with potential applications across screening, prevention, and treatment decisions. However, where primary or secondary prevention requires behavioural changes, there is currently very little evidence to support reduction in disease incidence. A better understanding of the relationship between genomic variation and complex diseases will be necessary before effective genomic risk identification and management of the risk of complex diseases in healthy individuals can be carried out in clinical practice. Our recommended approach is that priority for genomic testing should focus on diseases where there is strong genotype-phenotype correlation, high or certain penetrance, the effects of the disease are serious and near-term, there is the potential for prevention and/or treatment, and the net costs incurred are acceptable for the health gains achieved.

Original languageEnglish
Article number35
Pages (from-to)1-6
Number of pages6
Journalnpj Genomic Medicine
Issue number1
Publication statusPublished - 21 Nov 2017
Externally publishedYes

Bibliographical note

Copyright The Author(s) 2017. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


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