Not sure who is downvoting you, but they seem to have swallowed the hype wholesale. At the risk of sounding gratuitously negative, I find the discussion of medicine on HN to be of very poor quality, markedly below the general standard.
Don't you think it is fair to say that high throughput data (whole genome sequencing with variant calling) is still in a state of being evaluated to measure its effectiveness in aiding the treatment decision process but that early results seems to lean towards it becoming part of the standard diagnostic approach?
Genomic sequencing and patient outcomes is a thornier question. My non-practitioner take is that it is too early to tell scientifically, but that there will probably be some benefit to early identification of specific cancer types and choosing treatment. But I think many people would have made a similar statement about mammography and early detection, and absolute mortality appears to not be reduced by adding mammography to the diagnostic procedures, right?
The research value of genomic sequencing seems high enough to make it worthwhile. At least, when I sit in on molecular tumor board reviews (the oncologists at a table looking at called variant results for a specific patient), I hear them commenting about possibly new and unknown variants being of research value.
I am really looking forward to your reply - Internet message boards in general have to be almost the worst way to discuss medicine, but having participation from researchers and practioners like you is tremendously illuminating!
I'm not sure what your question is... genomics has research value, for sure, it's great. Is it worth trying to incorporate it into routine care? Yes, probably, if you have enough cash. Should a hospital pay for a black box machine learning algorithm to make recommendations from a highly polluted, often erroneous and hugely incomplete literature corpus? The alternative put forward by people actually doing the science is that we should try and develop large open source databases/repositories about the significance of genomic findings, and then collect the data about what happens to the patients.
http://www.nature.com/nature/journal/v490/n7418/full/nature1...
You could also skim
http://www.nature.com/nature/journal/v406/n6797/full/406747a...
for more information about genomic classification of breast cancer.
From a treatment prespective, I would say that just glancing at http://ww5.komen.org/BreastCancer/SubtypesofBreastCancer.htm...
would provide information on treatment decisions generally made by finding appropriate subtype classifications.
I think that it is pretty clear that genomic sequencing of patient normal and tumor tissue to find mutations is going to be standard-of-care sooner rather than later, but it is fair to point out that genomic sequencing is not currently standard-of-care. However, I know of studies currently underway that look at variant calls and the possibility of taking action on those calls in ways the involve specifically adding those results back into the patient medical record.
I am struggling a bit with how to phrase this, but I don't think you can argue against (1) different subtypes of breast cancer are separate diseases and can be classified by genomic sequencing and (2) treatments for these separate diseases are different and have different efficacies.
he original studies of trastuzumab showed that it improved overall survival in late-stage (metastatic) breast cancer from 20.3 to 25.1 months.[1] In early stage breast cancer, it reduces the risk of cancer returning after surgery by an absolute risk of 9.5%, and the risk of death by an absolute risk of 3% however increases serious heart problems by an absolute risk of 2.1% which may resolve if treatment is stopped.[2]
(ok, it's not exactly that question, but you can see how it works)