The original comment was not suggesting that all genetic diseases and cancer (!) can be easily cured. Based on similar techniques, many single-gene disorders are effectively cured. Unfortunately, our disease-specific drug approval process does not scale and prevents us from realizing the benefits of these techniques and technologies.

As a personal example, a close family member was recently diagnosed with shwachman-diamond syndrome (SDS). I have confirmed with multiple leading physicians (Dana Farber, Mayo Clinic, etc) that all of the tools necessary to cure her are presently available. At a high level, this would involve: 1. Extracting marrow. 2. Isolating blood-cell producing stem cells & amplifying in a dish. 3. Modifying using a product like [A] 4. Validating/re-sequencing to confirm transduction. 5. Re-insert modified cells into patient.

Yet doctors can't engage in this work without going through the lengthy drug trial process. So instead, they recommend much riskier treatment options including some that would complicate future gene-therapy attempts.

[A] - https://crispr.sigmainformatics.com/templates/CRISPR%20Custo...

> Based on similar techniques, many single-gene disorders are effectively cured.

This is a bit of a leap. In principle (some of) the technology "is there" but there is a huge amount of complexity in the steps 1 through 5!

> Yet doctors can't engage in this work without going through the lengthy drug trial process.

I think it needs to be said that the "lengthy drug trial process" exists for extremely good reasons. Were a treatment to be shown to be so incredibly effective during the trial process, based on pre-defined statistics monitored by an independent data safety monitoring committee, the trial would be stopped as it would be unethical not to provide all patients with the clear benefits. (recent example: https://www.ncbi.nlm.nih.gov/pubmed/29132880)

> So instead, they recommend much riskier treatment options including some that would complicate future gene-therapy attempts.

I believe it is unquestionable that doctors should be advocating treatment based on the best available evidence, and that the process for obtaining said evidence is a thorough and rigorous as possible, otherwise great harm can be done (classic example, thalidomide).

I would question the doctor that routinely recommended an experimental treatment which has not been shown to be efficacious over a "risky procedure" which has been shown to have $X efficacy.

Making patients aware of trials which may be of benefit to them is a valid and valuable part of medical practice, which is not always done very well. This is improving (in the UK at least) with greater numbers of research nurses and the use of databases such as https://www.ukctg.nihr.ac.uk.

>thalidomide

Excuse my ignorance here, but has there been a single other drug that the FDA has stopped before it became an issue that a less insanely thorough process wouldn't have? It seems like the FDA was right about thalidomide and has been using that as justification ever since. At this point, clinical trials have become so onerous that the FDA can't even vet them and just trusts the drug companies to be above board.

> Unfortunately, our disease-specific drug approval process does not scale and prevents us from realizing the benefits of these techniques and technologies.

On the other hand, something which is exceptionally well known to work should also attract huge and immediate capital to do the proper tests. Even for rare diseases, a sure thing would be funded.

I think the difficulty is more about procedural or cell based cures vs. drug-based cures or treatments. The system is set up for the latter, but is not comfortable with the former.

> Even for rare diseases, a sure thing would be funded.

Only if there is a ROI. Which also means that even treatments for not-so-rare diseases don't get funded if the majority of patients won't be able to afford the treatment at a price that provides that ROI. Clinical trials in the US or Europe are insanely expensive and you cannot even budget them: Adverse reactions by "male patients over 45, born on a new moon Tuesday"? In worst case you restart the trial, excluding the problematic group to at least get the proof of safety and effectiveness for some part of the population so you can finally make some money...

But for an insurance company, the ROI on curing someone’s hemophilia may be very very large.

On the more consumer side of things, being able to fix some sort of obnoxious but perfectly survivable condition that genetic engineering may be able to solve (say lactose intolerant) may be something that you could sell to a lot of people.

From the POV of an insurance company, the patient might go elsewhere in a few years and they would only partially benefit from a cure.

Surely an insurance company would prefer that the patient go elsewhere rather than have to pay $100,000+ every year on treatment. Even if they lose a customer, at least they don’t have that enormous expense.

True. Well, for young people.

For Medicare or certain people on Medicaid it might be worth it.

Yes, but for any disease there are a number of known gene polymorphisms that predispose you to the disease. These genes may interact with the rest of your genome in incredibly complex ways, but I bet all it would take to cure a disease in most cases would be to target the one or two most prevalent polymorphisms.

"You bet"? This is one of the core questions in human genomics/health research today and nobody has been able to make a convincing argument in general that your proposed approach would work.

Would you agree: The question being specifically whether in most cases necessary-even-if-not-sufficient genetic traits can be found ("genetic traits", as opposed to "genetic illnesses" since illness may not be the most likely result.) The problem being that although so far most of our exciting findings are of at-least-necessary genes (or plural genes, etc); obviously it's just these sort of cases that will produce high correlations and grab attention, so there should be a presumption of the equivalent of "publication bias." Necessarily, these will be the low-hanging fruit even if such cases are actually the exception, overall.

Of course, mere and relatively small correlations between disease and genetic traits are extremely common; but there are lots of possible explanations of such findings. In some cases 16 percent of all genes have a small positive correlation to a given disease, and "if everybody is at fault nobody is at fault!"

unfortunately that usually isnt the case. there are very few diseases where one mutation or molecule is truly causative. in many areas, weve approached the limits of how much we can treat disease by just targeting one molecule or mutation. this is an area where $50-70B of pharma R&D spend goes each year for the last few decades, and the yield of that research in terms of approved drugs is declining exponentially

While it may sound easy to change a polymorphism (and even there only for a single base, don't get me started on larger structural variants), do not forget that you have to apply this one single change to 10 ^ 14 cells (or even just 1 in 10000 cells is 10 ^ 10), while evading the immune system and not inducing any detrimental other mutations. For a software developer it always sounds so simple just to fix a single spelling mistake but that really isn't it.

(+ obvoiusly the stuff from the other comments about how hard it is to determine the cause to begin with)

True, and it's probably also worth noting that even "single gene" diseases can still be environmental illnesses; dependent on a modern condition or conditions that didn't occur a hundred thousand years ago or more; and nonexistent (despite the presence of that gene) back then.