Jamie Holyer, Advocate Policy & Public Affairs: The paradox of rare diseases

Problems linked to diagnosis and treatment of rare diseases are receiving top-level attention

Rare diseases – defined by the EU as a disease with a prevalence of fewer than one in 2,000 citizens – affect an estimated 3.5 million people in the UK. However, while the constituency of patients with rare (or ‘orphan’) diseases is significant, a lack of epidemiological data and coordinated communications from representative groups has resulted in few or no defined government policies for their treatment in the NHS.

For a healthcare service that prides itself on universal coverage, the scant available statistics make grim reading – 40 per cent of patients receive the wrong diagnosis and 25 per cent wait more than five years for a diagnosis. For many such patients, no specialised treatment exists, the disease is lifethreatening and they are often isolated. On top of this, these patients also suffer from social justice issues common to other groups, such as access to financial services, education and employment, mobility aids and therapy.

For all this, the problems associated with rare diseases are acknowledged by policymakers and progress is being made. Following the report by Sir David Carter in 2006, regional and highly specialised commissioning groups were established to plan and procure services. At EU level, the health and consumer protection director-general has published a draft European Commission Communication, which recommends every member state develop a rare disease action plan and other measures to encourage co-ordination of treatment.

Health ministers have concerns about provisions relating to equal access to therapy but are supportive, in principle, of the communication, which is expected to be ratified by the Council of Ministers in weeks.

A national plan for rare diseases would certainly be welcomed by patient groups and allied stakeholders, for whom such an initiative is long overdue. At the recent launch of the All Party Parliamentary Group for Rare Diseases, MPs across the political spectrum were struck by the determination to place rare diseases at the heart of the NHS.

The implementation of policy to develop a national plan will not be easy, with many difficult issues to resolve. Not least that the general direction of health policy for all parties is devolvement to clinicians and local accountability, which is at odds with isolated patients and the desperate need to pool expertise at national and supra-national levels. Despite the paradox of rarity and extensive consultation by the Department of Health in the development of the NHS Next Stage Review, there is no mention of rare diseases or commissioning of highly specialised services.

Policies on equitable access to therapy also present many problems. With ministers taking the final decisions on reimbursement of specialised services, unfortunately for some patients it can be a matter of who shouts loudest.

Access to therapy also goes to the heart of the top-up fees debate, with risksharing schemes and variations in decisions by PCTs’ exceptional case panels continuing to create challenges. The role of NICE in appraising treatment for ‘orphan’ diseases, which is expanding hugely, is also open to question. Ministers would quickly lose public support, however, if the existing quality-adjusted life year was applied.

With an industry focused on expensive specialised treatments, politicians set to lock horns, public spending under constraint and a maligned patient group expecting much from a national plan, all the ingredients are in place for a perfect storm. However, stakeholders are involved in a campaign to bring all these competing elements together and work with the Government on behalf of a patient community that has been isolated for too long.

Views in brief

You’re in charge of the NHS for the day. What one change would you make?
I would introduce performance-related pay, aligned to patient outcomes, for
all NHS managers. Such a policy would require strict auditing across the
patient pathway to ensure patient safety, but it has the potential to deliver
the pseudo-market forces in the NHS so coveted by New Labour.

Tell us about an unsung hero in healthcare
All those backbench MPs who are active in Parliament on behalf of campaign
groups, putting NHS patients before their own careers.

Jamie Holyer is managing director of Advocate Public Affairs

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