What if you could prevent all of the world’s most fatal genetic diseases? According to Lee D. Cooper, there’s a way- we’re just not educating people on how to do it.
Lee is the founder of the nonprofit Institute for Genetic Disease Prevention, a lawyer, a biotech entrepreneur, and a patient advocate.
He says that there’s not only a way to prevent fatal genetic conditions, but that it’s a whole lot cheaper than treating them for the few years the child is alive.
So what is it?
Lee speaks of IVF+PGT. It stands for in vitro fertilization with preimplantation genetic testing. Basically, parents who know they’re at risk for passing along a fatal genetic condition will go through IVF and then have their embryos screened for the malfunctioning gene. Only the embryos with fully functioning genetic profiles are then implanted in the mother, eliminating the possibility that the parent’s child will have a genetic condition. Believe it or not, the practice has been around for over 20 years, a lot of people just don’t know about it.
He gives the example of spinal muscular atrophy type 1. Most children with the condition don’t live past age 2. There has been progress in field with the first FDA approved drug to treat the disease announced in 2016, but it only gives children a few more years of survival. Plus, it costs 750,000 dollars for the first year and 375,000 each year after that.
Just recently, Novartis has announced a new potential gene therapy, which they estimate will cost 4 million dollars per patient. Although there is hope that other manufacturers may be able to produce the drug at a cheaper cost, there’s no guarantee.
Currently, around 400 newborns are diagnosed with the condition each year in the United States alone.
IVF+PGT
Lee explains that not only would IVF+PGT prevent the condition, but that the procedure is a lot cheaper than treating a child with spinal muscular atrophy type 1.
Let’s say that all 400 million babies born each year with the condition are given the new treatment from Novartis. That would equate to 1.6 billion dollars toward treatment in a single year. Instead, if 400 perspective parents who were at risk for passing on the condition went through IVF+PGT to prevent it, the cost would equate to 65 million dollars. That’s 25 times less than the gene therapy.
He also brings up the point that the long-term effects of gene therapy are still unknown, while we are positive that IVF+PGT works.
Who he says should do it
It’s estimated that 1 in 75 couples in the U.S. is at risk for passing on a genetic condition which is serious but detectable. Obviously, Lee believes that those who know they are at risk for passing on a fatal genetic condition should go through IVF+PGT. However, in order to even know you are at risk, you have to go through pre-conception genetic screening which not all parents do. He says that if all soon-to-be parents committed to this screening, and then IVF+PGT when necessary, we would prevent thousands of rare conditions. Additionally, we would safe 3.5 billion dollars every year.
The problem, he says, is that not enough people even know what IVF+PGT is. He’s advocating for increased education of the practice by medical providers, primary care physicians, gynecologists, and even school systems. Lee says this education could even start in sex-ed classes, making the younger population more aware of genetic risk as a component of reproduction.
Most who have heard IVF+PGT, learn after they have already had a child born with a rare condition. Ultimately, Lee says that treatment is important, but prevention could eliminate the burden of diseases like spinal muscular atrophy type 1 for generations.
According to Lee, education on this option really should be a moral obligation of medical providers.
You can read more about Lee’s take on the issue of prevention and IVF+PGT here.
