Why Hoping for Cures Soon May Be a "Pipe-Dream"
The sheer power of a sequenced human genome is beyond debate. In terms of diagnosing the previously "undiagnosable," risk screening, newborn screening, prevention of diseases, establishing targets for novel medicinal therapies, in providing a concrete roadmap for the medical professional, and in increasing the "genetic literacy" and level of empowerment of the informed 21st-century patient, it has truly earned its breakthrough status...as a diagnostic tool however; NOT as a curative one. Sequencing provides actionable data only. For repair, call it "cure" if you like, we need something else entirely. Enter gene or genome-editing.
It's becoming harder and harder to keep track of all of the articles and interviews which have appeared, and continue to on a regular basis, in major media outlets - from Time to the Wall Street Journal, People magazine to Scientific American, CNN to BBC to Cavuto on Business - tech websites, journals, medical news websites, and beyond - all bearing virtually the same title and story - "In the Future, Gene Editing will Cure Your Disease." Perhaps it will. What concerns me, however, is the almost unbridled expectations and rapturous optimism which are being attached to a technology whose efficacy is, at the present time, virtually unproven, and its proposed Henry Ford-style curative assembly-lines, non-existent.
Who can forget the incredible news out of MIT in March of this year: "Erasing a Genetic Mutation; MIT Team Reverses a Liver Disorder in Mice By Correcting a Mutated Gene." It is one of the few documented cases of a disease being "reversed" by the power of the genome. Another instance was no less publicized in MIT Technology Review in May of this year: Genome Editing to Reverse “Bubble Boy” Syndrome. But, one must ask, are these "cures" really long-term "cures with no complications?" If history of such breakthroughs teaches us one thing, it is that although a healthy dose of optimism is a positive, a healthy dose of skepticism goes a long way as well.
Will "cut-and-paste" erasing of faulty genes really go as smoothly as most seem to expect? Are the MIT mice and one Bubble-Boy truly a template for cures by patchwork? Initial gene-therapy for "Bubble-Baby Disease," also known as Severe Combined Immunodeficiency, SCID for short, was heralded as miraculous. That is until little "cured" Bubble-Babies" began developing leukemia at an astronomical rate - a "side-effect" of the therapy. It was a massive blow to gene-therapy, one of the reasons Gene-Therapy 2.0, still in its infancy, is frequently referred to as gene-therapy's comeback. What of initial stem cell breakthroughs which have fallen by the wayside? What of pharmaceutical clinical trials where many of the most promising drugs fail in late stages? As far as those cured mice go: maybe they are cured, maybe they will develop disabling and deadly side-effects down the road. Maybe what worked in mice won't work in humans. The SCID baby, cured by gene-editing? Although I pray for the health of another human being who too suffers from a rare Primary Immunodeficiency disorder, who knows what the future holds. As I stated initially, this technique is unproven in both the short and long-term. Neither replication of results on even a small scale nor longitudinal studies have even gotten off the ground. And, as far as I know, that manufacturing plant to mass-produce gene-editors is not yet even a gleam in an architect's eye.
The MIT mouse contained a rare disease mutation found in humans, hence the use of the mouse model. Were this procedure declared a success in humans today, it would take all of the CRISPR gene editors in existence decades to cure the tens, if not hundreds-of-thousands, of individulas with just that one rare disorder found in the MIT mice: Type I Tyrosinemia. And that's just one of almost 7,000 debilitating, and in some cases deadly, documented rare diseases which affect tens-of-millions of individuals. And what of the more common though no-less debilitating and deadly genetic disorders? It would take a global network of, in my humble estimation, no less than 25,000 CRISPR units working 24/7 to make even a well-placed dent in erasing the genetic mutations of the masses. And even then it would take decades to make this impact.
Perhaps, in the end, the editing away of disease mutations will prove the miracle which many early pundits are calling it. If so, to get this curative system off the ground will take the largest infusion of funding the medical and healthcare establishments have ever known. For equipment and infrastructure. Cut-and-paste surgeons. For an army of genetic counselors. For advanced training. And more.
As far as sequencing the genome, no editing involved, there is no doubt that mankind will reap the benefits in the short and long-terms. The technology is already making its mark.
In terms of editing away diseases, as we would apply a fresh patch to a torn pair of jeans? We are at the initial phase of hype which accompanies every "breakthrough"; a stage where far more next-best-ideas are relegated to the waste-bin of history than not. I would love to be proven wrong, however, bottom-line: It is, in my opinion, far-too-early to be speaking of the masses being cured.
For those with genetic diseases hoping for that elusive cure, that golden ticket to normality? IF the technology does live up to expectations, it could involve waiting in a very long line. Millions upon millions of individuals will be jockeying for an appointment at a CRISPR clinic. Don't be at all surprised when calling for an appointment, if the receptionist asks "how's the last week of April 2041 for you?"
Cures for the masses, in the form of gene-editing, at least in my opinion, for you, for me, for your mutation, for mine, for your genetic disorder, for mine, could be a good quarter to half-century away.
Call me a pessimist; accuse me of raining on the genomic parade if you choose. I call myself a realist. As far as "In the Future, Gene Editing will Cure Your Disease" goes...I need a lot more convincing before I start holding my breath.