Once you have centralized the ability to edit genes, most of that machinery can be repurposed for less 'profitable' endeavors.
A very crude comparison would be time sharing a radiotelescope. If you want to build one to run school experiments, it's prohibitive. But once you have one, you can use any spare capacity to allow for observations that would be impossible to justify economically.
If you have a slightly different form of a much more common ailment, there probably is good hope that eventually patient specific gene therapy for you will be something of a routine. You may be taking extra risks because of the lack of available research, but I'm sure any patient can become well informed enough to make the choice for themselves. I'm not saying it's commonplace or anything yet, but the tools are there or almost there to fix a slightly incorrect single gene issue (like a single point deletion or letter swap, etc).
Like just look
https://www.idtdna.com/pages/products/crispr-genome-editing/...
obviously this is for research and not in vivo human treatment which takes quite a bit more care and specifics to target whatever tissues / organs / whatever is broken in you...
but the reagents for doing custom sequence edits are priced for research in the hundreds of dollars. sure once an established research program finished and got approved they'd spend tens or hundreds of millions and charge each patient millions
but it's not insane to imagine a biohacker curing you in their garage for $5,000 while only maybe killing you
Given that, I think there's a lot of hope that custom gene therapy will become commonplace and relatively affordable.
The first gene therapy approved for in vivo treatment by the FDA, Luxterna, was approved in 2017. It treated RPE65 associated Retinitis Pigmentosa (at an original list price of 425,000/eye). Just a few months ago, J&J's LUMEOS trial revealed that basically the same process but targeting a different gene (RPGR) failed to meet its primary endpoints in the Phase III clinical trial (only 22 of 55 patients treated showed improvement on at least two measures, and there was no statistically significant improvement on the main measure at all). At this point, we can't even reliably take a process that fixed one gene and apply it to another gene to treat the same disease, that's how far away we are from "some dude in a garage." Will we get there? Maybe, but the human body is far more complicated than software, and analogies based on how software work mislead more than they help.
So $5k is a massive stretch. I do think costs are coming down. But don’t want to oversell current state of “garage hacking” either.
I mean, do you really believe that in some realistic alternative system of organizing society, your specific, extremely rare condition would have already been addressed, or have had more of a chance of being addressed than under what exists now in the world?
Sorry for elaborating so much in this comment, but the complaint you make is one i've frequently seen and for the reasons above it has never seemed entirely logical to me.
1) Call them entitled for feeling angry 2) Remind them that other people have it worse 3) Imply they're stupid for imaging things could work any other way
And then try to defend your obviously immature, unproductive, and unsolicited criticism in the "I'm just being logical!" excuse.
The parent didn't go on a screed and rage at the world. They didn't try to claim their anger is righteous. And they certainly didn't ask you to play two bit therapist.
Rather, they shared a totally reasonable and relatable emotional response to the situation they are in. I personally found it relevant and insightful to the discussion.
I highly encourage you to reevaluate to how you respond to these sorts of comments in the future.
People are gatekeeping resources that would enable access to treatment because for big companies, spending $1 to earn $1 isn’t a sustainable business model.
That approach developed the technologies, but what if a mass market approach is what is required to create the economies of scale we need to actually benefit from this science long-term? Consider a cure for the common cold. All of the technology exists. We can take a tissue or fluid sample and extract viral genomes, comparing against a database of over 100k viruses. We can develop MRNA vaccines that target specific viral proteins. We can do both of these things using current technology in a timeframe of less than a day.
To me this is the next great leap. Gene therapy is less a technology problem than it is an infrastructure problem, and rare diseases cannot support the infrastructure. But there are plenty of wealthy people who would pay $10k, maybe even $50k, out of pocket to cancel a cold. Rare diseases bootstrapped the tech, common diseases can scale it, and once scaled, everyone benefits.
There's also the question of, who writes the rules. Often it's industry experts that are already working on the process, and have incentives like keeping others out or licensing their own IP.
This is why regulators are very wary of "Right to Try" type stuff, they want to be sure that medical treatments are actually effective before they are available to the broad public. These sorts of RCTs are still quite necessary, and they are the really expensive thing in drug discovery. (Well, it's both that they are expensive to run and also they kill all sorts of drugs that don't actually work.)
Editing your DNA can be dangerous or even deadly if it doesn't work. Modern methods have mostly solved this, but there is still a lot of hesitancy due to prior failures/tragic deaths.
It is also ethically foggy. Somatic edits, edits that will die with you and do not change your sperm or eggs, are one thing, but when you start making germline changes, that impacts everyone who may inherit your genes. You may consent to a germline change, but will your children? Or your children's children's children? You may have the money now to make they change, but will they have the money to change it back?
Small genetic changes also have a complex spectrum of phenotype outcomes. If you start making germline changes that are not found in nature or are under-studied, that can have compounding unintended consequences. For example, if you spec into a dozen intelligence SNPs, that may also increase your risk for a pandora's box of mental illnesses.
So no, economies of scale will not solve this. It would be a disaster.
That's not to say there aren't additional ethical challenges that would arise if gene therapies were cheap, but the ethics concerns you're raising seem like future concerns, relevant to a world that does not yet exist.
But if I was staring down some awful rare disease, then sure, let's roll the dice.
Taxpayer money has paid for a substantial percentage of research around the world, and it doesn't seem necessary that we rely on profit-driven private companies for the actual therapies when they could be done at publicly funded hospitals too.
One issue is however that the actual costs are not so much in early R&D (what the publicly funded universities and hospitals are doing), but in the later stage (clinical trials) which needs deep pockets and appetite for risk, which only big pharma has, because they see a potential big payout.
Let's just cut out the middle man.
It is so bad that for a lot of treatments, getting them to people costs upwards of hundreds of millions of dollars. And almost all of these efforts fail.
This would mean the government would need to breed (and pay for) lab animals, small and large (from mice to primates). Would need to pay more for medical care, would need to collect (and pay) people to try out experimental drugs and treatments on. If these treatments or drugs have adverse effects, the government would need to shoulder sometimes lifelong payments and care to these people. It would need to cover all this knowing that in 90% or so of cases the whole effort was for nothing.
This is, to put it mildly, not happening.
The other problem is with viral vector based gene therapy is you can’t have it again. You develop antibodies which prevent it from working again, and it could cause a dangerous immune response.
Then there’s the cost. My single treatment cost $3 million as part of a clinical trial, and lasted about 3 years. Normally, it costs about $1 million a year for my normal factor product, which I had to go back on. So I guess it was a wash and it was nice to be free of the medication for a few years. But it’s definitely not perfect and has its own limitations.
Isn't this a bit contradictory? I mean, if they insert copies of working genes into the cell, it is in nuclear DNA, so when the cells divide, the daughter cells carry the new gene?
I can imagine other cases, for example, progenitor cells were not infected, cells that do not divide, etc...
Thanks for any answer
There are techniques that work on modifying nuclear DNA but from my understanding it's much harder (like using CRISPR) and has a lot more risks for things like causing cancer due to off-site editing.
The scales that this technology works is mind-boggling. 10^12 to 10^14 per kg of body weight of individual viral particles that all must do the same thing, and work correctly at scale. Even a few errors could cause serious problems.
As anecdata, Luxturna costs north of a quarter of a million per vial, it treats a fairly rare disease (Leber congenital amaurosis). Roche still poured millions into development.
Bio-tech, specially in a Medical field, is a very difficult business. The strategy for must startups is to get bought by a very large pharma company. The issue is that these companies often run out of runway, specially when dealing with later pre-clinical, clinical, and regulatory costs.
> Bluebird Bio, once a leader with three FDA-approved gene therapies, sold itself to private equity for around $30 million earlier this year, a 99.7% decline from their all-time-high $10b valuation
*investment* is there, market isn't
I'd love to know if anyone knows what a solution to this problem might look like.
We're kind of going in the right direction forcing open access of publicly funded research, but there's a lot more to do. And a big step backward with the insanity of the current administration which we can only hope will end soon enough.
The only thing that could work is either have a natural public monopoly on the health sector (for essentials) with direct democratic control measures (otherwise the "beancounters" will corrupt it) or just pour public money on it and hope it sticks. It's pretty obvious by now that the market won't regulate itself and will not care if people die. If it's not profitable enough they won't care (and by they I mean the abstraction of individuals who would care but are on distance by capital/stakeholders or psychopaths).
It’s pretty rare, but there is gene therapy in the works promising 2027 timeline or so for availability.
