Rare diseases: the impact on patients, caregivers, physicians and payers


New study polls patients and providers in the US and UK; lack of shared information affects both

Timed to a World Orphan Drug Congress (Washington, DC; Apr. 9-11), Shire HGT (Lexington, MA) has released a study surveying psycho-social and economic impacts of rare diseases on patients, caregivers, physicians and payers in the US and UK. The company (which markets a number of rare-disease therapies) collaborated with an independent panel of thought leaders in healthcare advocacy and policy to develop the study, called the Rare Disease Impact Report.

Some of the findings are to be expected: rare diseases can have a devastating impact on patients and their families and caregivers, and treatments, when they are available, are expensive or difficult to access. The report also cites several of the key statistics in this area: there are 7,000 known rare diseases (which are typically defined, in the US, as those affecting 200,000 or fewer patients but include some well-known conditions such as cystic fibrosis, hemophilia or lupus); and there are 30 million—about 10% of the US population—with a diagnosed rare disease (3.5 million in the UK).

But some of the data are startling: according to patient responses, it takes 7.6 years in the US, and 5.6 in the UK, to be correctly diagnosed. In the meantime, US patients saw an average of four primary care and four specialist physicians, and received between two and three misdiagnoses. Over half of US physicians (54%) and 62% of UK physicians agreed that there “aren’t enough opportunities to network with other physicians who treat rare diseases;” and even more noted that it is difficult to coordinate care with other physicians.

There were also some stark differences in perspectives from US and UK payers (the UK respondents, dominated by the National Health Service, includes various Care Trusts, health agencies and the Strategic Health Authority). While 90% of US payer respondents agreed that “rare disease patients require more prescription drugs,” only 30% of UK payers did. And 90% of US payers agreed that “rare disease patient care puts a strain on the healthcare system,” only 45% of UK payers agreed. More directly, 55% of US patients “incurred direct medical expenses not covered by insurance,” while only 18% of UK patients did, and 34% of US patients sought help from charity or public assistance, while only 18% of UK patients did.

Rare diseases, and the orphan drugs that address those diseases, are increasingly in the spotlight as more orphan drugs come to market, and as patient-support groups grow more organized. As an era arises of personalized medicine affecting both rare diseases and more common conditions that are subdividing into genetically differentiated disease states, there will be a reckoning.

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