Both before and particularly now after the big human gene editing summit in Washington, D.C. at the National Academy of Sciences, I’ve talked with patients about their views on this new technology including at last week’s World Stem Cell Summit.
One of the most striking moments of the DC summit was when the mother of a pediatric patient made the comment after a talk about human gene editing that if it could be helpful with genetic diseases, “just freakin do it!” A lot of pain was evident in her voice and tears.
Some patients at the World Stem Cell Summit indicated very much the same perspectives. I’ve heard from patients on this via email over the past year as well.
There is a need for rapid, new approaches to genetic diseases.
Patients and their loved ones often have a higher degree of risk tolerance than scientists. I have seen this in the stem cell field too, where many patients ask me about unapproved stem cell treatments for themselves (“I have MS, ALS, etc.”) or their children (“he has autism, etc.”). It’s not that they want to take risks, but understandably they are willing because they are in an urgent, health-related situation in their family.
Antonio Regalado over at MIT Tech Review has a powerful recent piece on a case of Huntington’s Disease patients including Jeff Carroll who are in favor of human embryo editing:
“I have no compunctions about it,” says Carroll, who is a neuroscientist at Western Washington University, in Bellingham. “I am saying, please, please do mess with our DNA.”
What risks are acceptable when we are talking about making genetically modified human beings?
There isn’t going to be one “right” answer to such questions, but it is clear that patient voices need to be part of the discussion. At future meetings and discussions on germline modification more patient voice need to be heard.
11 thoughts on “Just freakin do it: patients voice impatience on CRISPR for genetic diseases”
I heard Sarah Gray speak at TedMed, everyone would benefit from seeing this, I will post the video when it comes and I agree with dynamic and properly weighted POV, Difficulty and high stakes can not remain a barrier. I think this makes it more of a priority and not something we leave unaddressed.
David, good points about medical error. I think that Clinical trials need to meet needs from a global perspective, that this is the future. One challenge is that many doctors don’t know how to accurately calculate risk and they are the ones doing information sharing with patients.
Another issue is that many researchers and health professionals assume patients have rights and are cared for during the trials when this is not always the case. A patient who has a bad experience would with good reason think why take a chance when I can just go to a clinic, do it cheaper and take my chances.
I think we also have to get better at sharing how to understand risk so it becomes public knowledge http://www.cebm.net/when-doctors-dont-do-numbers/
Good discussion. PGD is needed and indeed should be integrated into the system asap with coverage – not only to save lives & alleviate unnecessary suffering but to accumulate data on the very genetic issues the science is trying to fix. We don’t know anywhere nearly enough on the mutations & mechanisms of the code controls and dev pathways for the vast majority of problematic genetic issues. This is where the investigators using germ cells & pre-embryos will help to build a profile of disease states with pop data from IVF clinics.
I wrote about PGD & IVF in an opinion piece in March > “The Rise of Germline Science – Human DNA Modification” http://msemporda.blogspot.com.es/2015/03/the-rise-of-germline-science-human-dna.html
In that piece I relayed one of my family stories of 2 Nephews that were born and died shortly after. My Brother and his wife have suffered tremendously and find solace in the son that survived the genetic gauntlet that others should not have to face – irrespective of the methods of how to best address each case. All solutions must be explored.
@SGrayDC Sarah Gray’s courage to stand up in DC with such pure emotion and relay the essence of the family’s perspective was widely felt. That is something to consider when science debates the very basis of life for all.
An inclusive and properly weighted pov is needed here on all subjects related to patient rights imo. Systemic adjustments should be fluid and reflective of the required balance and respect for evidence based science while modifying MOA thresholds to more patient centric risk/benefit metrics.
Amy yes it may be possible to get treatment after a trial has been completed but then that can be years away. I asked the hospital doing the trial in the USA if I could have the treatment there and have the reporting tests done by an approved clinic or hospital in New Zealand or Australia but they said NOT possible. Maybe this is also something that needs looking at as well.
As far as your comment about some clinics possibly not handling cells carefully then is this not the same as a doctor not prescribing the correct medicine. I know this happens many times as my son-in-law is a pharmacist. On many occasions he has had to call doctors and say that a drug prescribed will react with another the person is taking. There are many areas where each of us take day to day risks and think nothing of it but in the case of stem cell treatment those that want it should be made full aware of the consequences. If they decide yes then that is their choice and should be respected. In this world no one is perfect and we all make errors of judgement but all through life you are expected to trust common sense and do what you learn or told. From the day we are born our lives are programmed through, learning, experiences and sometimes risk. You can’t wrap people up in cotton wool and totally control them or we will end up with a lot of zombies.
Why are we talking all about Germ Line editing, while CRISPR’s true potential is the simplicity to be used for in vivo adult studies. We have been able to edit genome before, even though, harder but it was possible. CRISPR therapies main focus should be to be used on already alive humans.
David Sherar raises the placebo issue which is certainly something that needs to be considered more carefully than just being mindlessly accepted as the standard way of doing business.
I’d argue that if a therapy really works you don’t need a control. It would work, beginning and end of story. If I solve a mathematical problem correctly, I don’t need to provide a non-solution just to show that my solution worked. Really…
There is also a large class of problems where we know there is no cure. No need for a control in that case.
Finally, I’d repeat a point that I have made before. I’ve paid for an experimental treatment and I knew damned well that it would, at the best, only provide a partial fix. But I did my background research and I knew that my investment would carry forward because I was investing in the work of quality practitioners who were publishing their ongoing work. For me this made more sense than donating to some foundation who would decide how my money would be invested. My intellectual effort was a part of my investment…
Jeanne Loring is right on the money. I’d bet that even these more “conventional” procedures are not available to most people on the planet.
I would add that there is no real need to reproduce if you have iffy genes — or even if you’d don’t. Really, the present human population is way larger than the planet can sustain at a decent standard of living.
There is a world of difference between alleviating suffering or curing someone who has a disease and curing a disease in an imaginary person that doesn’t even exist and need never exist. Conflating the two is logical lunacy!
David , these are serious concerns you point out about time, cost and viability. It is possible for trials to offer the effective treatment for those on placebo following the trial but this is not always done. At this point the rights of patients in clinical trials are not great and this needs to be improved. This interview of Jean Burns in NIH rounds details this http://www.pdplan4life.com/what-price-research-subjects-lives.htm Patients clearly understanding risk and making their own choices like they do for end of life care seems reasonable. The challenge is that when patients are not aware that cells are handled carelessly or what is mixed with them it becomes a safety concern and they are risking more than any person could have knowledge of even when highly educated and intelligent because these risks are invisible to the naked eye.
The stem cell world is involving extremely fast and having so many FDA road blocks for those that are looking for treatment is costing people possible well being and in some cases life. Sure there may be a few of us that might not get what we want or die but if we are willing to take the risk and pay for the outcome them should we also not have some rights to decide our future. I personally know what I am looking for in stem cell treatment after having an anterior STEMI complicated by VF arrest x 2 in 2009. In 2012 and again 2014 I had ADSC treatment via IV that have helped both times and are reasonably fit and well but I now want direct heart injection. I know and have spoken to 2 clinics that are doing trials but the problem is you never know if you are the one who gets the placebo. As I live in New Zealand and all trials are done in the Northern Hemisphere travel, accommodation and time make it not viable financially or in time. In one trail that I believe I fit perfectly, I would have to fly to USA, have further tests and if approved then I have to stay basically for 16 to 18 months so the clinic can do all the follow up test reports on outcome. Imagine the cost of this and then to find out you only had a placebo!!! Do you think this is fair and acceptable? Why can’t people are willing to pay for the treatment have the treatment?
I have seen incredible CRISPR demos. It is an amazing concept and definitely one to explore but they are only at the beginning stages. The demos can look simple and also underplay the uncertainties. Doing it in science is a lot messier. It is like the complexity of Google search on a white page. None of us knows the algorithms that make it work or how it becomes unstable.
I agree that if we used current validated genetic testing to the max and it was covered by insurance we could save a lot of lives and then the research monies could be used to develop these technologies so they are safe and accessible interventions
There was discussion about germ line editing at the FDA patient-oriented meeting for HD a few months ago as well as at the World Stem Cell Summit. In my discussions with HD patient advocates, the consensus seems to be much simpler: the US needs to enable insurance coverage for IVF and preimplantation genetic diagnosis. Since the HD mutation is dominant and easily detected by genetic tests, encouraging those at risk for HD to use IVF and PGD would solve the majority of the problem. In the rare cases in which the parents both carry an HD mutation, there would still be a one in 4 chance of producing an embryo that doesn’t carry the mutation.
My point is that I think we should use current tested technology before we experiment- these are human beings we’re talking about, and our job is to be honest with them, not take advantage of their plight.
I think this reaction on the part of the patients highlights a bigger problem in the bioscience community: our desire to have papers published in the flashiest journals possible. And supposedly, we have to do this, right? Grants, jobs, tenure, etc., supposedly all require this, right? What this leads to is papers locked up behind a paywall, which the patients can’t access. This really needs to change, probably more on the scale of what Mike Eisen envisions rather than what PLoS is actually carrying out, but I can’t see an NIH mandate coming down anytime soon.
What this leads to is a seemingly wholesale dismissal by a large degree of patients of TALENs and ZFNs. This is also not good. I would argue that we know way more about how those work and their effects on cell biology rather than the CRISPR/Cas9 system.
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