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Spinal muscular atrophy type 1 (SMA) begins when a parent notices that her infant can’t lift his head, a key milestone in early development. It ends with the silent passing of a toddler, his body lacking the neuromuscular function to live. This deadly disease affects almost 400 newborns in the United States each year, and approximately 13,000 per year globally. It arises because of a single defective gene. There is no cure.

In 2016, the FDA approved the first disease-modifying drug for SMA called nusinersen (Spinraza). It works by using a small strand of RNA to patch up a less functional gene in people with spinal muscular atrophy. This drug, which costs $750,000 for the first year followed by $375,000 for subsequent years, can extend the lives of children by several years. While the long-term outlook for children with spinal muscular atrophy remains bleak, more families can experience the joy of their child’s first steps.

Earlier this month, pharmaceutical giant Novartis announced that its new SMA therapy — an experimental, single-dose gene therapy — will get priority review status from the FDA. Novartis suggested that this innovative drug could be worth upward of $4 million per patient. Media reactions included sticker shock at a multimillion-dollar price tag, even though Novartis set the proposed value based on health economic comparisons to other marketed drugs. Assuming the manufacturing process for this gene therapy can be reproduced by other manufacturers — not a sure thing for complex gene therapies — biosimilar versions of this innovative therapy could one day benefit society at a lower cost.


Whether or not lower-cost drugs become available, the social and political focus on drug prices is a reminder for a remarkable truth: We can use in vitro fertilization to prevent SMA. It’s safer and cheaper than any new drugs in sight, and it enables a life free of the disease.

More than 70,000 babies born in the U.S. each year are conceived through IVF, and the procedure isn’t just for infertility.


For more than two decades, reproductive medicine experts have used an approach that combines in vitro fertilization with preimplantation genetic testing (IVF+PGT) to prevent genetic diseases. IVF+PGT works like this: Aspiring parents identify a genetic disease risk such as spinal muscular atrophy as a result of preconception genetic testing. They then go through one (or more) standard IVF cycles and freeze their fertilized embryos. Each embryo is screened for the gene in question, and only those embryos without the disease are implanted.

I have a genetic disease, and know firsthand how important it is to think about preventing this disease for my family’s health. Where gene therapy offers hope to individuals born with genetic diseases, IVF+PGT can reduce the burden of genetic disease for generations to come. Tens of thousands of aspiring parents in the U.S. alone have chosen IVF+PGT to bring genetically healthy babies into the world. What’s more, PGT+IVF does not involve germline gene editing (as was done recently in China), thus avoiding meaningful ethical concerns around editing the human genome.

The biggest problems today for IVF+PGT are education and access. IVF+PGT is largely used by people who already know they are at risk for passing on a genetic disease. But for most children born with genetic diseases, there isn’t a known family history. Far too many couples learn about IVF+PGT only after they have had one or more children with a genetic disease. That’s why I believe that all aspiring parents should be educated about — and offered — genetic counseling and preconception genetic testing, and then IVF+PGT when needed. Education about these important and actionable reproductive choices could begin as early as sex-ed classes, when young people learn about other essential health issues. That education should continue at annual check-ups with a gynecologist or primary care physician.

IVF+PGT is an economic no-brainer. If we accept Novartis’ claim that its gene therapy for spinal muscular atrophy has a value of $4 million per patient, then gene therapy for the 400 babies born each year with the condition would cost the U.S. health care system $1.6 billion every year. The long-term effects of this gene therapy on children is still unknown.

A conservative estimate of the annual cost of IVF+PGT for couples at risk of giving birth to 400 children with spinal muscular atrophy is around $65 million. This includes the costs associated with genetic screening ($400 per person) plus two rounds of IVF+PGT for each couple ($20,000 per round). That makes preventing spinal muscular atrophy 25 times less expensive than treating it — plus we know it works.

In the U.S., about 1 in 75 couples is at risk for passing on a serious, detectable, single-gene disorder. If every couple in the U.S. — not just those who know they are at high risk of passing on a genetic disease — opted into pre-conception genetic screening, followed by IVF+PGT when appropriate, we would sidestep thousands of cases of potentially lethal diseases for around $3.5 billion a year. That’s the cost of two or three Novartis-like gene therapies. Public and private payers should be begging to cover this kind of prevention program as the standard of care, and medical providers should feel a moral obligation to make their patients familiar with these options.

Aspiring parents should expect nothing less. Just because a disease is genetic doesn’t mean it must be passed on.

Lee D. Cooper, a biotech entrepreneur, patient advocate, and lawyer, is the founder of Enlight Bio and the nonprofit Institute for Genetic Disease Prevention.

  • Me and my husband we both are sma1 career therefore we had lost our 1st baby in his 8 month of age. And after 5 years I’m conceived than our Dr. Advised for a cvs test. And we done it and when we got the result it was positiv. Now I’m 16 weeks pregnant .Dr said to us for abort the baby. And yes we will do it. But after that what should we do for a healthy baby?

  • I assume non-minor parts of the treatment for SMA is currently covered by insurance, right?

    IVF is *not* typically covered by insurance.

    So yes, on the whole this would save money. But wouldn’t this shift the financial burden from insurance companies to patients themselves?

    (I think IVF+PGD is an excellent option. Just wondering who would pay the bill…)

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