Advancing the Cause of Rare Diseases: A Call for Reforming Policy on Rare Diseases
Rare Diseases are a major public health problem affecting over 25 million Americans. These diseases are little understood (80% are genetic in origin). They have few cures, and fewer therapies. As a result they produce long term, chronic, and complex problems. The management of these diseases is not only draining to the patient, but caregivers, clinicians and hospitals as well. A recent industry report stated it takes an average of 7 years to get diagnosed, after seeing 8 physicians; and frequently being misdiagnosed multiple times. The majority of these diseases begin in childhood and death before five years of age is not uncommon. Clinicians overwhelmingly agree they are without the time, resources and knowledge to tackle these diseases. Despite the country’s investment in Rare Disease Orphan Drug policy it has been estimated that the rate at which rare disease are being discovered it would take hundreds of years to create therapies for all of these diseases and subtypes. And given the cost of these drugs it is questionable that this model is economically sustainable.
The facts are crystal clear; of the approximately 6000 plus rare disease, therapeutics is available for about 200 of them. When Dr Collins, Director of NIH was asked about the challenge of developing new clinical interventions, he responded that traditional research methodology takes 20 to 30 years to produce interventions.
As a caregiver to two young grandchildren with rare diseases and an activist in the field, those realities are disturbing, yet they are the facts. Based on those facts, the tasks ahead are crystal clear: first and foremost we must do all that is possible to address the needs of patients and caregivers dealing with diseases without cures and do all that is possible to modernize research methodology.
A recent review of US policy found large gaps in the services necessary to address the problem of rare diseases. The policies in the US need to give more focus to:
- Empowering and supporting those affected by rare diseases
- identifying and preventing rare diseases
- expediting early diagnosis and early intervention
- improving the coordination of care
- coordinating the genetic research focusing on rare diseases
For the most part, patients and their caregivers operate in a vacuum. With clinicians knowing little, parents, patients and caregivers become their own care managers, often seeking out a diagnosis without the help of primary care clinicians and in places far from their medical home. In addition, acting as their own care managers they become adept and competent at care management. Their ingenuity leads them to assemble their own advocacy and research organizations, which individually and aggregately drive major research projects, many of which do now and will benefit the cause of common disorders. Given the breadth of knowledge and leadership of these individual groups, I recommend we begin a process that will overhaul the US rare disease policy from orphan drug centered to one of patient centered , with much greater focus on the diagnosis process, the long term chronic care management process and research focusing on the genetic origin of these diseases. This policy should be medically home focused and patient/caregiver/family centered.
Scope of the Problem
A disease is considered rare when it affects less than 200,000 individuals in the US, about 1 in every 1500 people. Unfortunately, that is the high side ratio of rare diseases; many are much rarer than the cutoff. Although each individual disease affects a small percentage of the population, with over 6,800 rare diseases discovered, the aggregate number of affected individuals adds up to 8% of the population, affecting an estimated 25 million people in the US.
These rare diseases are 80% genetic in nature, with the inherent problems of limited resources, lack of research, scarce expertise and patients that are few in number and geographically spread out. Very few studies have addressed the needs of the pediatric population with rare diseases separately from that of adults. However, since nearly 50 to 75 percent of rare diseases begin in childhood, these pediatric disorders deserve special priority.
An article appeared in the Journal: Rare Diseases this year on the Emergence of Pediatric Rare Diseases. It is helpful to understanding the seriousness of this public health problem, its public policy history and offers some international comparisons, specifically to the European Union practices.
In the United States, patients with rare diseases have limited hope for treatments due to inadequate market incentives for the pharmaceutical industry to develop these “orphan drugs.” In the 1970s, the National Organization for Rare Disorders (NORD), a private organization, pushed for legislation in the development of orphan drugs that led to the Orphan Drug Act issued in 1983. This act provides tax benefits, grants for testing and market exclusivity of treatments. The Office of Rare Diseases Research (ORDR) was created in 1993 within the office of the Director of the National Institutes of Health (NIH) to stimulate and coordinate research. In the United States, there have been no national surveys aimed specifically at children with rare diseases.
The available data suggest that the US health-related policies have focused on the diagnosis of these diseases by concentrating on research, improving access to credible laboratories, newborn screening and facilitating a coordinated research effort. However, there is no uniform special designation for the hospitals and medical groups that are equipped and adequately staffed with the physicians and ancillary services experienced in caring for children with rare diseases. It is therefore the patients and their physicians who search and make a referral to the institutions deemed as qualified in caring for these children. Academic centers and children’s hospitals that perform research and can deal with the high cost and lower reimbursement rates are often a natural choice for such referrals. Therefore, many patients and their families find themselves traveling long distances away from their community to get appropriate care.
On the other hand, the EU policy makers have concentrated their resources on providing access to the existing technology by facilitating the availability of qualified centers that may provide specialized care to these patients. As the surveys mentioned above indicate, these two approaches each fall short of fully assessing or meeting the needs of these children and their families in certain areas.
Clearly, improved access to medical-home and transition care, along with improved availability of social services can improve the existing care of all patients, regardless of their diagnosis. However, with the escalating cost of health care and the global economic downturn, prioritization of the resources has become an increasingly vital issue. It is therefore empiric for health care providers and policy makers to identify the interventions that have the greatest positive impact on the life and wellbeing of these patients.
Practical Impact of the Problem
A recent study by Shire entitled The Rare Disease Impact Report summarized the state of rare diseases as follows:
According to more than 1,000 survey responses from a multi-stakeholder audience sample, the Rare Disease Impact Report reveals:
It takes, on average, more than seven years in the US and five years in the UK for a patient with a rare disease to receive a proper diagnosis
- On the journey to diagnosis, a patient typically visits up to eight physicians (four primary care and four specialists) and receives two to three misdiagnoses
- Physicians (both primary care and specialists) often don’t have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases
- Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients and their caregivers
Given that the situation is as grave as it is measured, it is no surprise that physicians agree:
- The majority of physicians surveyed reported it is more difficult to address the needs of a rare disease patient in a typical office visit (92% in the US, 88% in the UK agreed) and more office visits are required to diagnose a rare disease patient (98% in the US, 96% in the UK agreed)
- In addition, more than half of physicians stated there aren’t enough opportunities to network with other physicians who treat rare diseases (54% in the US, 62% in the UK agreed)
Since the traditional fee structures for reimbursing physicians are stringent, time does not allow for the diagnostic efforts required for rare disorder diagnosis and patients are bounced from pillar to post over many years.
Comprehensive Strategy Recently Adopted in the UK
As a full time care giver of two grandchildren with rare disorders, I am keenly aware of the evolving sciences that may provide therapies, cures and preventive measures. Yet I am keenly aware that the over 80% of rare disorders are genetically based. I am also aware of the complexities of cracking the code; that the race has just begun and may not hit its midlife for a decade or more, if then. In the meantime there are 32 million Americans who need help and support. In light of those realities the strategies I would propose are those recently adopted by the United Kingdom.
•promote equity of access – allowing everyone with a rare disease to follow a clear, well defined care pathway, providing high quality services for every individual through integrated personal care plans
•offer a patient centered, coordinated approach to treatment services, specialist healthcare and social care support which takes into account the needs of patients, their families and others who provide essential support
•deliver evidence-based diagnosis and treatment of rare diseases, developed through the best use of regional and national resources that are easily accessible by patients and professionals
•support specialized clinical centers to provide expert, high quality clinical care and expertise to patients their families and caregivers and the patient’s, multi-professional health care team
•promote excellence in research and develop our understanding of and treatments for rare diseases
•deliver rapid and effective translations of advances in the understanding of rare diseases into clinical care by creating appropriate infrastructure, care pathways and clinical competences
•deliver effective interventions and support to patients and families quickly, equitably and sustainably
•promote collaborative working between the NHS, research communities, academia and industry wherever possible to facilitate better understanding about rare diseases and how they can be best treated
•support education and training programs that enable health and social care professionals to better identify rare diseases to help deliver faster diagnosis and access to treatment pathways for patients
•promote the US as a first choice location for research into rare diseases as a leader, partner and collaborator
These specific strategies can be boiled down into five general areas:
- empowering those affected by rare diseases
- identifying and preventing rare diseases
- diagnosis and early intervention
- coordination of care
- the role of research
Policy that Makes Sense for the US
First and foremost the US must recognize that our current rare disease policy must be expanded to acknowledge rare disease management as its number one priority. Absent cures and proper therapeutics, funds and incentives must be directed to securing expedited diagnoses and supporting comprehensive complex care management, lest patients be subjected to long delays in securing a diagnosis; misdiagnosis and symptomatic treatments lacking in evidence base, and chaotic and uncoordinated case management.