Editor's Note

Out of Pocket

Precision medicine’s success depends on access. And that depends on money.

By Misha Angrist featured image Illustration by Lauren Crow

In our summer issue, we featured a story about the 2016 approval of Spinraza (nusinersen), the first really promising drug for the treatment of spinal muscular atrophy (SMA), a devastating and progressive disorder marked by the loss of nerve cells that control voluntary muscle movement. It is the leading genetic cause of death in infants. Children with SMA who respond to the drug have begun to hit developmental milestones that might have been eluding them for years.

The arrival of Spinraza is an exciting and indeed truly hopeful development for young and extremely fragile patients for whom, for so long, there was little if anything to be done. But the drug can cost as much as $750,000 for the first year of treatment (after that, it is “only” $375,000 per patient, per year). Admittedly the patient populations for these sorts of drugs are often quite small, and the research and development costs can be enormous.

But even if patients wind up on the hook for just a small fraction of those costs, that’s still a lot of crowdfunding and a lot of bake sales.

A clinician who treats SMA patients recently told me that Biogen, Spinraza’s manufacturer, assured him that the drug would be made available to everyone who needs it. That’s great to hear. At the same time, however, as detailed in a recent NPR story, state Medicaid programs are, not surprisingly, chafing at the high six-figure price tag. Hope, it seems, is expensive.

A few years ago Duke oncologists and health services researchers Yousuf Zafar and Amy Abernethy (the latter is now at healthcare technology company Flatiron Health) coined the term “financial toxicity.” As originally defined, it meant that if a cancer patient’s out-of-pocket expenses become too onerous, then those expenses can diminish the patient’s quality of life in much the same way chemo side effects can.

In an interview, Zafar tells me he started thinking about this during the economic downturn a decade ago. “I began to hear patients say, ‘Could I come to the clinic less often?’ and ‘Could I take less drug?’ Some of them couldn’t afford gas,” he says. “They couldn’t pay their copays.”

In a study published in JAMA in August, Zafar and his colleagues found that even a third of cancer patients with insurance still faced out-of-pocket costs that were higher than what they expected — sometimes tens of thousands of dollars higher. Meanwhile those without insurance wound up spending nearly a third of their household income on healthcare-related costs.

Zafar clarifies that, as with many complex problems, the causes are many. “Responsibility falls equally across all parties,” he says. “It’s government, pharma, payers, and providers.” Presumably those same stakeholders will each have a hand in trying to fix it.

The reticence to discuss these issues, Zafar says, has a lot to do with our general squeamishness about talking money, as well as the often-fraught relationships between patients and their physicians. “Patients think they’ll offend their doctors if they ask about cost. And if doctors bring it up, then patients think we only care about the bottom line,” he says.

Clearly the term “financial toxicity” can be applied to more than just cancer treatment. Without guarantees of access (and perhaps even with them), it’s not hard to imagine new drugs for rare diseases taking a huge financial toll on families. And consider that some of the prices that have been bandied about for gene therapies in the pipeline are in excess of $1 million. Of course companies need to recover their investments and reward shareholders — we get it. But even if patients wind up on the hook for just a small fraction of those costs, that’s still a lot of crowdfunding and a lot of bake sales.

So, what to do? Physician Data Query (PDQ), the National Cancer Institute’s comprehensive cancer information database, recently published a guide to help cancer patients, families, and caregivers deal with potential and real financial toxicity; there’s no reason it shouldn’t be applicable to other patients, too (the guide is available at cancer.gov/about-cancer/managing-care/track-care-costs/financial-toxicity-pdq). Some of the PDQ guide’s advice is of the long-term, big-picture policy variety: advocating for price transparency; calling for value-based pricing (that is, if it works, then third parties will pay for it, but first show us that it works); and pushing for insurance reform.

As many Genome readers know all too well, coping with financial problems while also confronting serious illness can be daunting in the extreme.

And some of the PDQ guide’s advice is meant to help individual patients and their loved ones deal with financial challenges from the beginning and at a more granular level: tracking their own costs; meeting with a financial navigator; exploring payment options; and making a concerted effort to talk to their doctors about money, just as Zafar makes a concerted effort to talk to his patients about it.

Much of this advice is common sense and none of it is a magic bullet. As many Genome readers know all too well, coping with financial problems while also confronting serious illness can be daunting in the extreme.

We are living in a remarkable time. In this issue, for example, you’ll read about the FDA’s first approval of an anti-cancer drug prescribed based on the tumor’s genetic markers instead of its location in the body. (See “Turning Point,” page 38.) You will also read about promising developments in the treatment of Huntington’s disease, such as a new gene-silencing therapy that is in early-stage clinical trials. (See “Hunt to Stop a Killer,” page 44.)

All of that is cause for hope. But if we can’t figure out how to ensure patient access to these breakthroughs, we risk compounding one set of heartaches with another.