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The article has a DNA versus RNA spin that, scientifically, is more of a distractor than anything when it comes to cancer. I understand that for marketing, it's
by carbocation 11y ago
The article has a DNA versus RNA spin that, scientifically, is more of a distractor than anything when it comes to cancer. I understand that for marketing, it's useful.
In blood cell cancers, Steve McCarroll's group has shown that oncogenic somatic DNA changes are readily discovered through routine sequencing, and these are prognostic of poor outcome.[1] If you do this on a pre-disease schedule based on the risk estimates from your first round of sequencing, you will be able to detect blood cell cancers at any stage you like.
In non-blood cell cancers (say, breast cancer), you don't expect to capture any of the tissue-specific cell of interest from a blood draw to determine if there are somatic mutations occurring. However, there is growing evidence that there is often enough circulating tumor DNA in the blood that it can be of diagnostic significance.[2]
In contrast, for diseases that do not involve somatic mutations (in other words, for diseases aside from cancer), an RNA-based assay could be quite interesting. For example, getting better characterization around non-dilated cardiomyopathies would be of broad interest.
1 = http://www.nejm.org/doi/full/10.1056/NEJMoa1409405 http://www.nejm.org/doi/full/10.1056/NEJMoa1409405
2 = https://www.genome.gov/27556716 https://www.genome.gov/27556716
- davemessina 11y agoThanks for your comments, and yes, you've got it exactly. In cancer, both DNA and RNA can be effective diagnostics, and there's been a lot of great work on the DNA side in cancer. In essentially all other diseases, though, there are changes in RNA but not in DNA.
- carbocation 11y agoI really think that with heart failure, we need the biomarker equivalent of somatic pre-cancerous DNA changes in cancer. But we also need (to steal from the psychiatrists), better endophenotyping, because many different aberrant states lead to very similar clinical syndromes of "heart failure". A group, perhaps yours or in concert with yours, could both define the disease subsets based on biomarkers and then diagnose/prognose/inform treatment. Surely the same is true for other diseases, this is just one high-impact example.
- jeffdavis 11y ago"In essentially all other diseases, though, there are changes in RNA but not in DNA." Is that true for autoimmune diseases like Type I Diabetes?
- davemessina 11y agoYes.