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Principles for the translation of ‘omics’-based tests from discovery to health care submission

This submission reflects the views of
Organisation Name: 
Macquarie University
Please identify the best term to describe the Organisation: 
Educational institution – tertiary
Personal Details
Q1. Is the draft document presented and written in a manner that is appropriate for the target audience (ie medical researchers, health professionals, health administrators and policy makers with responsibility for oversight of research or clinical care)?: 

Overall, there is a strong tone of genetic determinism in the document. It is not clear that such determinism is always warranted. It may be worth reviewing the language to see where this can be softened. 

Q2. The draft document includes governing principles that apply across all domains and specific principles that apply to each of the four domains. Is this structure useful?: 


Q3. The draft document includes five case studies. Are the case studies appropriate and do they sufficiently cover the range of situations that might be encountered in practice?: 

The case studies are quite complex and pre-suppose a substantial amount of genetic literacy. It may be worth reviewing these for accessibility/readability.

Q5. Is the draft document comprehensive and does it cover the key issues in terms of principles? Is there further advice that should be included in the draft document?: 

Principle 2.6 -  we agree that minimal characteristics of an omics test include specificity, sensitivity and reproducibility and add that lower limits of quantitation need to be included.

Principle 2.8 specifies that “Individuals participating in research should have autonomy to make decisions regarding return of incidental findings”.

It is somewhat preemptive of national and international debate on the topic, and although the principle is qualified by noting in the rational that this may not always be feasible, it might be better to word the principle to be more qualified.

Suggested alternative wording:  “Where this is feasible, and the results are adequately validated, informed individuals participating in research should have autonomy to decide whether or not to request return of incidental findings”.

Principle 4.3: Defined standards for data content must cover not only the data entry but the quality of the data. Data curators need to be discipline specific across the different -omics  datasets to ensure this data quality.

Principle 4.4.: Given the rapid change in programming software, contingencies of making legacy data accessible in the future need to be addressed.The – omics is moving to cover many more molecules than the gene (proteomics, metabolomics, glycomics, lipidomics etc) – there needs to be a common software infrastructure that facilitates interrogation across the different –omics data repositories such that data linkages can be mined. In addition there should be the capacity to increase/change the types of metadata recorded with each entry. Historically the funding, and thus the life, of – omics databases has been limited and much has been lost. This needs to be corrected in future initiatives in providing the funding  to contribute to the maintenance of a diverse set of databases, and to future-proof the long term availability of the data.


Page reviewed: 15 April, 2015