False Hope

Blog#178- 11/5/23

By Richard Davis

People who have to deal with the burden of an incurable disease often hold out hope that there will be a cure before the disease takes their lives. Diseases such as ALS, multiple sclerosis, Alzheimer’s, Type 1 diabetes and many types of cancer as well as a host of other diseases may have treatments to alleviate symptoms but the disease still moves in often relentless and unpredictable ways.

Hoping for a cure borders on delusional thinking partly because of the time it takes to develop treatments and also because of the cost of any curative regimen. A recent news item about sickle cell anemia drives this point home all too clearly.

A few years ago Jennifer Doudna and Emmanuelle Charpentier received the Nobel prize for their work with the gene editing technology called CRISPR. CRISPR is an acronym for clustered regularly interspersed palindromic repeats. It is a process that allows scientists to change the structure of genes.

It is important to understand some of the ethical considerations of CRISPR. There are two categories of genes, somatic and germ. If a germ line gene is altered it means that all future generations related to the person whose gene was altered will have that change. Somatic cells that are altered are only changed for that particular person. To date, research with CRISPR has been restricted to somatic cells.

Researchers have targeted sickle cell disease as ripe for CRISPR because the disease happens because of only one change on a gene so it is relatively simple, in the world of gene editing, to fix the defective sickle cell gene and render a person disease free.

Sickle cell disease primarily affects black people all over the world. Red blood cells become disfigured and become sickle shaped and the result is that they clog many small blood vessels. When that happens it results in severe pain in areas deprived of oxygen and organs can be permanently damaged.

For years the only sickle cell treatment was pain control. Bone marrow transplants have had some success in halting the disease. In the last few years scientists have been able to edit the sickle cell gene with CRISPR and they have pronounced cures in a few cases.

The FDA is in the process of considering approval for sickle cell treatments using CRISPR technology. Here is some background from a recent CNN report. “Sickle cell is rare, and it disproportionately impacts African Americans. About 100,000 people in the US are diagnosed with sickle cell and, of those, 20,000 have what’s considered severe disease.”

They go on, “Up until now, the only real treatment has been a stem cell or bone marrow transplant. For stem cells, fewer than 20% of patients have an appropriately matched donor, the FDA said, and the transplants are risky and may not work. Sometimes a transplant can kill the patient. The new exa-cel treatment under FDA consideration can use the patient’s own stem cells. Doctors would alter them with CRISPR to fix the genetic problems that cause sickle cell, and then the altered stem cells are given back to the patient in a one-time infusion. In company studies, the treatment was considered safe, and it had a “highly positive benefit-risk for patients with severe sickle cell disease,” Dr. Stephanie Krogmeier, vice president for global regulatory affairs with Vertex Pharmaceuticals Incorporated, told the panel.”

So who pays for a treatment that can cost about a million dollars, takes eight weeks of infusion and can only be delivered at a few medical centers? Vertex, a company that developed this treatment estimates 20,000 people could benefit. They believe that Medicaid and some private insurers would pay for the costly treatment. There are precedents for payment for other costly gene therapies.

But we all know how insurance companies work. It would be a safe bet that very few of those 20,000 people with sickle cell disease will have their treatment paid for. I hope I am wrong, but when it comes to cures for diseases it’s all about the money. That is the nature of health care in a country that treats people’s lives as just another commodity to reap profit from.

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