By Giacomo Chiesi, Head of Chiesi Global Rare Diseases
As a certified Benefit Corporation (B Corp) serving the needs of rare disease patients, we believe we have a societal obligation to address policies impacting the estimated 350 million people living with a rare disease. The unmet need is overwhelming, as less than 5-10% of known rare diseases have a treatment. A recent call from leaders in the United States Congress to ban the use of the Quality Adjusted Life Year (QALY) metric in all federal programs could go a long way toward correcting profound societal inequities impacting rare disease patients and caregivers – and may provide a financial benefit as well.
QALY-based assessments imply that the value of an intervention is proportional to the beneficiary’s capacity to benefit, which therefore favors those with “more treatable” conditions and those with greater potential for health, in terms of functioning and/or longevity. We, alongside our colleagues at the Rare Disease Company Coalition, argue that while QALY can be a useful part of assessing the economic value of healthcare treatments and outcomes for high prevalence diseases, use of QALY for orphan drugs is a prime example of how blunt use of traditional health policy can discriminate against rare disease patients.
The traditional QALY measure focuses on gain in lifespan but does not reflect health gains reported by patients with rare diseases that have few if any treatment options available; nor does it incorporate what patients value in a treatment such as less frequent dosing or reduction in infusion schedules. Fortunately, the use of QALY to assess the value of cell and gene therapy for the treatment of rare diseases has been, in few cases, positive as it drives HTAs/payors to arrange value-base or managed access agreements to manage the high upfront cost of these therapies, enabling access.
As health care costs often begin in childhood for about half of all rare diseases, this can perpetuate a misconception among payers that rare disease treatments are too costly. This misconception further discriminates against a vulnerable population and overlooks that the cost of therapeutics for rare diseases is small compared to the average annual economic burden shouldered by patients and their families.
That misconception exists because some issues disproportionately impact the rare disease community, including process of care, indirect costs such as productivity loss, long term or short term disabilities, home changes, and traveling and accommodations for medical visits.
In 2020, Chiesi Global Rare Diseases commissioned a health economics study to measure the societal value of pharmaceutical treatments for rare diseases and inform policymakers about the unmet needs of the rare disease community in the United States. We estimated that the overall burden of rare diseases in the U.S. is $7.2 trillion to $8.6 trillion per year. That is approximately ten times higher than high-prevalence diseases on a per patient per year (PPPY) basis. A lack of treatment for a rare disease was associated with a 21.2 percent increase in total costs.
While most rare disease direct costs are covered by insurers, we found that an important part of indirect costs remain on the shoulders of patients and families. People living with a rare disease often depend on a family caregiver, which impacts that individual’s health, quality of life and economic stability as well. When no treatments were available, our study showed that the range for productivity loss per year was approximately $33,000 to $61,000 for patients and $25,000 to $61,000 for caregivers, compared with approximately $3,000 to $22,000 for patients and $4,000 to $5,000 for caregivers when treatments were available.
These findings highlight that providing access to rare disease treatments generates substantial value for society because it potentially lowers the associated economic burden on patients and caregivers. But assessments like QALY do not consider the indirect costs or non-health-related benefits such as the ability for caregivers to work and improved productivity at work. Also omitted in QALY assessments are patient and caregiver reported outcomes, such as value of hope and value of knowing. Both can provide quantitative and relevant information regarding the impact on daily life.
Declaring access to rare disease therapies a public health priority will likely lead to further investment in treatments. A public health priority designation can lead to restored incentives and further rare disease drug development and would support ongoing Congressional calls for a coordinated approach at the U.S. Food and Drug Administration (FDA) to provide regulatory reliability and expertise in its rare disease product reviews.
Public policy should increase caregiver resources and provide relief for families affected by rare diseases, as they bear high indirect or non-reimbursed expenses. Congress can and should do more by investing in the care economy, recognizing that rare disease family caregivers are an important segment of the infrastructure equation. We often hear mixed messages from government regarding access, drug pricing and innovation that risk perpetuating existing health disparities. We need to recognize that working together for the unified purpose of delivering treatments for rare disease patients is a societal imperative. The dignity and insight of the rare disease patient and caregiver should inform our progress.
Learn more about improving patient access to life-changing, FDA-approved rare disease therapies in this new Rare Disease Congressional Coalition policy paper.