Rare disease patients face 5-7 year wait for diagnosis

Patients that suffer from a rare disease typically wait years for a proper diagnosis, according to a new report.

The Shire-backed Rare Disease Impact report surveyed more than 1,000 stakeholders and found that doctors, both primary care and specialist, often don't have the time, resources or information to properly diagnose or manage these patients.

The report found that rare disease patients wait on average more than seven years in the US and five years in the UK before they receive a proper diagnosis of their condition.

During this time they will usually have to see up to eight doctors, four in primary care and four specialist, and receive two or three misdiagnoses.

Shire's report is based on a series of online surveys conducted in January among US and UK rare disease patients, carers, doctors who treat patients with rare diseases, payors and rare disease thought leaders.

Rare diseases are a key area for Shire and its report aims to quantify their impact in healthcare, psycho-social and economic terms.

Shire's chief executive designate Flemming Ornskov said: “The findings from our Rare Disease Impact Report are sobering. As a leader in rare diseases, Shire hopes that this report will help drive forward a collaborative effort with the patient and medical communities to address the unmet needs identified.”

Challenges identified by the company's report also included the difficulty to address the needs of a rare disease patient within a typical consultation – and almost all those surveyed (98 per cent in the US, 96 per cent in the UK) said it took more visits to a practitioner diagnose a rare disease than a more common one.

More than half of doctors said there aren't enough opportunities to network with others who treat rare diseases (54 per cent in the US, 62 per cent in the UK).

Meanwhile, around half of patients and carers surveyed said they received conflicting information from different healthcare professionals about treatment options (60 per cent in the US, 50 per cent in the UK), and more than half said they themselves needed to provide their healthcare professionals with information on their rare disease (67 per cent in the US, 62 per cent in the UK).

“This Impact Report brings to light the specific barriers to quality care that exist for patients with rare diseases; particularly the challenges in getting an accurate diagnosis, adequate information and ongoing care,” said Nicole Boice, founder and CEO of rare and genetic disease patient advocacy organisation Global Genes | RARE Project.

While individual rare diseases are uncommon and disparate, collectively there are approximately 7,000 different types of rare diseases and disorders affecting an estimated 350 million people worldwide.