By MacKay Jimeson

Too many patients and families are in crisis as we mark another Rare Disease Day. Policymakers are focused on debates on Accelerated Approval and drug pricing, while many patients are without treatment due to regulatory or insurance coverage barriers. This Rare Disease Day, which is February 28, it is crucial that we move beyond awareness and seek tangible policy and regulatory action to support the unique needs of patients living with rare diseases. And action can be taken today.

Yesterday, my colleague, Rachel Derby at Patients Rising Now, hosted a briefing on Capitol Hill for Congressional staff to kickoff Rare Disease week. The issue was Health Technology Assessment (HTA) – lesser discussed, but incredibly important issues for the Rare Disease community.

Patients with a rare disease often face unique challenges and hardships due to the lack of disease awareness, small patient populations, limitations in clinical data and other factors. Even if a new therapy is approved – a significant win for many rare disease families – patients frequently find they are in a new fight for life because insurance companies don’t always cover these medicines due to unfavorable cost effectiveness assessments.

To help resolve this, lawmakers can eliminate the use of the Quality Adjusted Life Year (QALY) as a metric used to model cost effectiveness of a new treatment. The QALY is an assumption-based, generalized metric that became popular among health economists in the late 1960’s. It is not disease specific, nor is it a scientific measure. QALYs assign a numerical value to human life. People near perfect health are assigned a higher value, whereas the elderly, disabled, and chronically ill are given a lower value. Despite the discriminatory and unethical nature of this approach, health insurers and pharmacy benefit managers use “cost and QALY assessments” to make coverage decisions.

This has real implications on rare disease patients. Given that there is much to learn about the natural history of many rare diseases and therapies for these diseases often have limited clinical data, any “cost and QALY” assessment will fill data gaps with assumptions about how a patient would feel and function during that time. These assumptions are often wrong and can lead to inaccurate results about the real benefits of a drug or treatment. Since someone who is older or has a severe disease will have a lower QALY score, those patients may not be able to get the treatment they need, even if it would help them live a better life.

Congresswoman Cathy McMorris Rodgers, Chairwoman of the House Energy and Commerce Committee, has introduced a bill to ban the use of the QALY by federal agencies. Congress should be urged to pass this legislation with bipartisan support. Private payers and Pharmacy Benefit Managers should follow the federal government’s lead. Also, private organizations like the Institute for Clinical Effectiveness Research, which uses cost and QALY cost effectiveness projections, should also recuse themselves from assessing rare disease therapies, given their clear bias and the insensitivity of their approach.

There are alternatives to the QALY-based cost effectiveness model.  One example is the Global Risk and Cost Effectiveness (GRACE) model, championed by Dr. Darius Lakdawalla out of the University of Southern California. The GRACE model is more comprehensive than ICER’s approach. It incorporates both the direct and indirect costs and the impact of an intervention on quality of life and other factors such as patient satisfaction and access to care.

What is important to remember is whether you use ICER or GRACE they are simply models or projections of cost.  They offer more of a hypothesis than a fact.  In other words, 100 different cost effectiveness models will likely give you 100 different results.  What is most important is how we are designing measures that start and end with the patient in mind.

The Patient Access & Affordability Project published Health Technology Assessment Best Practices for Rare Disease to bring fresh thinking to how value is assessed. The standards were carefully developed to eliminate health disparities experienced by patients with rare diseases, by ensuring that any evaluations of cost-effectiveness for emerging rare disease treatments are patient-centric, adaptable for specific diseases, and improve patient access to new rare disease treatments.


And what is value?

For some that may be to stabilize their condition and give them an opportunity to have the same learning gains year after year like their classroom peers. Others may be as simple as having the ability to move your fingers so you can effectively use a wheel chair.  There are patients who may take a new therapy that allows them to go back to work and find dignity in providing an income for their family. In the saddest cases, it may be extending the life of a child and maximizing their time on earth with their family.

These may not be typical clinical endpoints, but they are outcomes that matter to patients. system.   While there has been some progress in Patient Focused Drug Development and Patient Reported Outcomes, much work is need. Patients are the best voice to push all stakeholders in this direction. Lets establish clinical endpoints and scientific measures of patient value that are agreed to by drug developers, clinicians, FDA, CMS, private payer that are grounded in a deep understanding of the patient experience.

With rare diseases we can only fill gaps in clinical data by building long-term evidence in the real world.  This might be frightening for agencies like the FDA and CMS, but it may also be the best hope for advancing our scientific understanding of a disease and creating more innovative medicines for these patients.

That does not mean society should pay for treatments that don’t work.  Patients need to push drug developers, private payers and the federal government to truly embrace value-based care. With a commitment to a long term understanding of a disease and therapy, drug developers and manufactures can assess how effective there medicines are at delivering the value to patients through agreed upon measures.  Payers can establish risk-adjusted, value-based agreements with manufacturers are regularly review real evidence overtime so they are either paying for value or being reimbursed one a therapy does not do what is intended.

Rare Disease Day is a reminder of the many challenges faced by the rare disease patient community. To ensure that rare disease patients have access to safe and effective treatments, we must rethink how we develop and provide access to new therapies. This should include banning the use of the QALY and embracing scientifically valid measures of patient value that start early in drug development and are honored by health insurers post approval. Only then can we ensure that rare disease patients have access to the treatments they need.

MacKay Jimeson is the executive director of the Patient Access & Affordability Project at Patients Rising.