I'm not a huge fan of GSK making money off this data, but I am a huge fan of having the data be available. Did you know you can download all your 23andMe data and make it publicly available through openhumans.org? Here's mine:
I want this data out there to help any and all researchers. The more free, public data exists the easier it is for researchers without GSK levels of cash to make discoveries and contribute back to the community. Just like OSS, someone has to be willing to give away something that has historically been sold. I'm willing to do that and I hope you will as well.
Thank you for being so open. I feel similarly about my own genes but I do not have them sequenced yet. A lot of people are talking about the security concerns and whose making money.
Valid concerns, but I think medicine does need vast amounts of genetic data available to actually make some progress. Medical progress is not advancing fast enough by some very real metrics (5 year cancer survival rate over 40 years is not at ALL impressive when you factor in diagnoses being made earlier).
Ownership of this data is important, but if genetic data was more freely shared I think medical progress would benefit.
>...but I think medicine does need vast amounts of genetic data available to actually make some progress.
How does more genetic data equate to better progress with medicine? Are we testing medicine against specific genome sequences, now? If so, how are we doing that without the source host[s] to test against?
>Medical progress is not advancing fast enough by some very real metrics...
Again, I'm not seeing how these two equate, whatsoever.
For what you're talking about the genomes would have to be reproduced, such as the markers that are the precursors for breastcancer. Then, the tissues, themselves, would have to be reproduced and then you'd have an effective field with which to test new medicines against (unless you just use the people with the markers to test).
How you're getting from a mapped sequence to better medicine is... ...we're simply not there, yet, technologically, I believe. Unless you know something I don't? (Which could very well be the case, admittedly, but I doubt we're at the stage of computer models for genome engineering, tissue growth, cellular division, etc. all in one.)
Large genetic datasets yield medical progress by increasing statistical power of tests. These better tests enable earlier and more targeted treatment.
Take heart disease. It has a significant but complex genetic component. Many genetic variants each contribute a small amount to risk for heart disease. If a given person has many small risk variants, the sum total risk -- often called "polygenic score" -- can be relatively high.
People in the top 8% of polygenic scores had a 3x higher risk for heart disease than the general population [1][2]. Through techniques like polygenic scoring, large genetic datasets enable uniquely early detection of high risk for the world's leading cause of death.
Also, you're posing prediction and targeted treatment but you haven't posited how Bob's mapped genome sitting in 23andme will be used for medical treatment.
As we know, genes are not an emphatic, "this will happen to you," but an increase in likelihood; which still doesn't translate to any emphatic treatments from the genes, themselves, yeah?
Janssens seems less skeptical of 23andMe's paper on polygenic score for type 2 diabetes [1][2], which -- interestingly -- positively cites the Khera 2018 paper on polygenic score for heart disease that she critiqued. Some researchers are skeptical, but the medical community generally seems to consider polygenic scores promising for tests [3][4].
> you haven't posited how Bob's mapped genome sitting in 23andme will be used for medical treatment.
Early intervention. Polygenic scores could be used for medical treatment by motivating earlier intervention. That could include stronger recommendations for better diet and exercise, closer monitoring programs, or more precise prescriptions. That, in turn, could reduce disease burden.
>...could be used for medical treatment by motivating earlier intervention...
and
>...could include stronger recommendations for better diet and exercise, closer monitoring programs, or more precise prescriptions...
and
>...could reduce disease burden...
This is where the problem delineates for me: We're being massively assumptive in moving from "could" to "is" and "will".
I will, generally, concede the could portion but to assert that it is emphatically happening or going to happen is still far from fruition and to label this science as such, just yet, is overreaching and giving false hope where none should really be given because, then, you'll taint it's benefits with the drawbacks.
Remember: Anonymised data (e.g.: 23andme) only allows a survey of what's relatively known or can be inferred from the anonymised dataset.
To arrive at what you're suggesting, it would have to move into a different realm (I believe), like UK BioBank or GEDMatch but, even then, we're still basing things on speculative science - gambles of percentages that aren't, emphatically, true or false but a kind of "maybe, kind of, sort of, in a way, definitely could or defintely could not" muddied waters.
That, to me, is a far stretch from saying that the data in 23andme is - actually - helping medicine; which I believe is what the OC I replied to emphatically said.
https://www.openhumans.org/member/iandanforth/
I want this data out there to help any and all researchers. The more free, public data exists the easier it is for researchers without GSK levels of cash to make discoveries and contribute back to the community. Just like OSS, someone has to be willing to give away something that has historically been sold. I'm willing to do that and I hope you will as well.