Not only are rare diseases well, rare, but the same rare disease can also affect different patients in a multitude of ways. For instance, some diseases can impact many different organs. If the primary organ affected for one patient is liver, that will be the target of their primary treatment. However, another patient with the same disease may experience the most damage to a different organ and necessitate a completely different treatment regime. Not to mention that patient needs can vary significantly throughout their lifetime.
This variation ultimately means that we need to look at patients holistically- not just as a diagnosis, but as the unique individual they are. To accomplish this, we need to hear from the patients themselves about their experiences.
This conversation needs to begin during drug development or we will never reach the level of precision in regards to treatment that we need.
The discussion regarding individualized treatment has been ongoing for years. But it’s been amplified following this year’s Rare Disease Day on February 28th. An article featuring an interview with Jayne Spink, Chief Executive of Genetic Alliance UK, clearly portrays what we can do to improve treatment (and access to treatment) for rare disease patients.
Genetic Alliance UK is composed of over 200 different patient advocacy groups. One of Spink’s main contentions is that by working closely with organizations such as these, the pharmaceutical industry will be better able to engage the patient voice. She admits there has been progress in this regard, but explains that there are still parts of the industry which have not utilized engagement to the level which is necessary.
Spink believes this is partly a result of a lack of guidelines concerning the ethics of patient engagement. There are some guides explaining appropriate conduct between pharma and organizations, but not many between pharma and patients.
To combat this, The Genetic Alliance, along with three other organizations, created a guide aimed at outlining the ethical principles they believe are most important for patient engagement. This guide is meant to be used by clinical investigators and pharmaceutical sponsors. Principals discussed included reliability, respect, transparency, trust, and accountability.
“Patients should not be an afterthought. They are an integral part of the design process.”
Consequences of Not Including Patients
When patients are not included in the drug development process, it is very easy for ineffective or inefficient clinical trials to emerge. Barriers to recruitment or retention may form, impeding any result from emerging at all.
For rare diseases that have a limited patient population to begin with, this can be detrimental to research.
Even if a clinical trial is completed successfully, if it was examining the wrong thing, outcomes will still be bleak for patients.
Let’s say though, that a clinical trial is well done and a drug for a rare disease is ready to move to the marketing phase. In the UK, there are 15 different ways a pharmaceutical company can work to obtain a license. They all operate differently and can lead to different decisions on the same drug. To combat this, the Genetic Alliance UK has started a project called Resetting the Model. It is evaluating the preferences of patients, pharma companies, and regulators in examining new treatments. Their ultimate goal is to improve the process of drug licensing for rare disease patients by engaging the patient voice. They expect to report their findings within the next few months.
The Moral of the Story
We cannot accept the current state of the processes for drug development or drug licensing for rare diseases as it does not fully consider the patients who it aims to support. We have undoubtedly made progress, but we can most certainly make continued improvements.
Through efforts like the Genetic Alliance UK’s two aforementioned projects, we are making slow but steady advances. Hopefully, this will lead to more precise, effective, and accessible treatments for the entire rare population.
You can read more about these projects and the importance of the patient voice here.