When a panel of experts recently voted that a gene-editing technique was safe for clinical use, it rang the opening bell for a new era in healthcare.
The one technique, alone, could have a profound impact on the more than 100,000 Black Americans and 20 million people worldwide who suffer from sickle-cell anemia and who could now be cured, rather than just managing what can be a painful and debilitating condition.
And that technique is just the first of many research efforts to get out of the lab. Hopes are high that other, related techniques could cure a host of cancers and blood disorders, some forms of blindness, cystic fibrosis, muscular dystrophy, high blood pressure related to LDL cholesterol and much more.
We're just at the opening bell. It will take many years to fully understand the effectiveness and potential dangers of the sickle-cell treatment, and a lot could still go wrong. It will take decades for the full array of gene-editing treatments to be vetted and rolled out. As a result, the effects on health insurance will be slow to play out.
Still, the achievement is stunning, and I think it's both worth celebrating for a moment and worth digging into a bit to understand where science can take humanity.
The sickle-cell technique stems from the work on CRISPR that won the 2020 Nobel Prize in Chemistry for Jennifer Doudna and Emmanuelle Charpentier. CRISPR is a family of DNA sequences that can be used to target and shut off a specific gene in a person's genome that causes disease, such as the one that causes sickle-cell anemia.
More recent research suggests CRISPR can even be used to fix "typos" in the three-billion-letter sequence of the human genome and treat genetic disease.
Because CRISPR is altering body chemistry at such a basic level, researchers are proceeding cautiously, initially focusing on conditions such as sickle cell where a single gene defect has been identified as the cause and where editing the gene should have no side effects.
Even with sickle cell, the work has a very long way to go. The panel of experts who have found the treatment safe for clinical use have only seen it tried on 44 patients, and just 30 have been followed for at least 16 months. No side effects have been recorded, but, as this article in the New York Times explains, snippets of genetic material created by CRISPR could conceivably bind to an unintended part of someone's genome and turn off the wrong gene.
The treatment is rough on patients. The Times says: "Patients first have eight weeks of blood transfusions followed by a treatment to release bone marrow stem cells into their bloodstream. The stem cells are then removed and sent to the companies to be treated. Next, patients receive intense chemotherapy to clear their marrows for the treated cells. The treated cells are infused back into the patients, but they have to remain in the hospital for at least a month while the new cells grow and repopulate their marrows."
The treatment is also very expensive -- likely to cost millions of dollars per patient. But the healthcare system in the U.S., alone, spends $3 billion a year treating sickle cell, and gene-editing offers a full-on cure, so Medicare and private insurers have indicated that they'll cover the treatment.
To me, the milestone here is that we now have the prospect of actually curing chronic diseases like sickle cell, many cancers, hypertension and more, not just managing them.
And capabilities will only accelerate from here, largely because AI lets researchers sort through exponentially more possibilities than unassisted humans can as they wrestle with the mind-boggling complexities of human biology. Already, AI has let researchers understand how hundreds of thousands of proteins fold themselves, which determines a lot about how they interact with other proteins and with any drugs; previously, just determining the shape of a single protein required a chemical process that took more than a year and cost in the six figures.
As you keep reading about the great prospects for generative AI -- and they are great -- realize that other strains of AI are at work, too, and some are helping usher in a new, gene-editing era in healthcare that will benefit millions and millions of people.
Cheers,
Paul