Yes, Those Ice Buckets Raised Millions, But There Was No ALS 'Breakthrough'

Two years after the Ice Bucket Challenge created a social media sensation—and raised more than $100 million to fund research aimed at finding new therapies for amyotrophic lateral sclerosis (ALS)—multiple media reports last week declared that the money funded a “breakthrough” discovery. Glowing stories, prompted by a press release from the Washington-based ALS Association, described the discovery of a “new” ALS gene called NEK1 that could lead to treatments for ALS, a progressive neurological disease that is usually fatal within two years of diagnosis.

But was this really a breakthrough discovery? A scathing report from the watchdog newsletter HealthNewsReview reveals that the discovery of NEK1 is neither new nor is it likely to be the key to curing the disease in most patients. The editors say it took them “mere moments” to find physicians who looked at the original study cited in the release and realized that, in fact, it did not actually say what many media outlets reported it did.

Vinay Prasad, assistant professor of medicine at the Oregon Health and Sciences University, said, “The authors do not identify a NEW gene of interest—it was ALREADY implicated [in ALS]—and even their work suggests it is a rare occurrence ~3% in ALS cases. Moreover, the gap between this finding and improving outcomes for patients remains as far as going from the earth to Pluto.”

Ouch.

Susan Molchan, a former researcher for the National Institutes of Health , agreed with Prasad and told HealthNewsReview that it’s important for everyone to realize that an association between a gene and a disease doesn’t equate to that gene causing the disease, and moreover, developing drugs from such discoveries takes decades and often fails. Her advice: “Say NO to the word ‘breakthrough.’”

In fairness to the ALS Association, the dreaded B word does not appear in the press release that sparked all those enthusiastic media stories. The release explains that the Ice Bucket Challenge allowed the organization to fund Project MinE, a global effort to sequence the genomes of 15,000 people with ALS. It goes on to describe what is understood about the role of NEK1 and its variants in the disease, and says that further research “will provide an important new target for therapy development.”

Fact is, the word “breakthrough” presents a thorny issue for members of the media who report on scientific discoveries. The FDA, for example, does actually bestow something called “breakthrough therapy designation,” for experimental drugs that are meant to treat serious or life-threatening diseases and that in early trials demonstrate substantial benefits over existing treatments. Drug developers that win this designation can benefit from an accelerated path through the FDA approval process.

But it’s worth reminding patients, caregivers and anyone else who’s hoping to see new cures for devastating diseases like ALS that “breakthrough” designation does not signal an impending cure. More importantly, any time scientific research is summed up in a press release, it’s generally a good idea to go to the original source—which in the case of the Ice-Bucket-Challenge research was an article in the journal Nature Genetics—and get the straight facts on what, exactly, was discovered.

To be sure, the Ice Bucket Challenge was a tremendous success for furthering medical research. As FORBES senior editor Matthew Herper pointed out at the time, it didn’t just raise money for ALS research, it encouraged everyone to donate money to charity—a worthy result just on its own.

But the event was such a sensation that some have taken to referring to the serious disorder that is ALS as the “Ice Bucket Challenge disease.” Such unfortunate wording, used most recently on August 1 in a press release about an ALS discovery from the University of Malta, for example, minimizes the importance of research aimed at finding effective treatments for the disease.

The Ice Bucket “breakthrough” coverage was the latest example of science news catching fire in a way that John Oliver, host of the HBO series Last Week Tonight, justifiably criticized in a recent report. (See video below.) “Too often, a small study with nuanced, tentative findings gets blown out of all proportion when it’s presented to us, the lay public,” Oliver said. “Science is, by it’s nature, imperfect, but it is hugely important, and it deserves better than to be blown out of proportion and turned into morning show gossip.”