People with rarer diseases have problems accessing effective new treatments, so plans for earlier-access schemes for drugs to treat these conditions should be considered, the government has been told.

These patients also need a process which enables their views to be "systematically considered" in relation to the risks and benefits of new medicines, according to responses submitted to the Department of Health's consultation on the proposed United Kingdom Plan for Rare Diseases.

The consultation has received over 350 responses, from interested parties including NHS commissioners, clinicians and researchers, patient support groups, specialist organisations, Royal Colleges and industry, and they express concerns over a number of issues relating to access to drugs and research into new treatments.

For example, the Department notes that some respondents to the consultation “found it hard to see how value-based pricing would work for medicines for rare diseases, as these are the types of drugs - because they are innovative or address an unmet need - that are likely to command the highest prices."

Respondents also cited reports from the Office of Health Economics (OHE) and the National Clinical Director for Cancer suggesting that availability and uptake of some orphan and cancer drugs in the UK are lower than elsewhere, and concern at the way orphan drugs are appraised through the Scottish Medicines Consortium (SMC) and the All-Wales Medicines Strategy Group (AWMSG).

"In reality, many manufacturers do not submit for appraisal in Scotland and Wales, largely in recognition that the methodologies employed fail to appropriately recognise the value of such medicines," one respondent wrote.

The consultation document asked how the NHS can best ensure that rare-disease research carried out by the National Institute for Health Research (NIHR) is rapidly transferred into practice. But a number of respondents pointed out that a great deal of research into rare disorders is carried out in settings other than NIHR Biomedical Research Centres  - "probably the majority," said one. Another expressed concern that the section of the consultation document dealing with research "does not recognise the barriers to conducting research into rare diseases in the UK, and that no solutions are put forward."

The current R&D, ethics and product approval systems received much comment, with one respondent writing that: "the enormous amount of red tape involved in rare-disease research needs to be examined. Strict regulation which may be entirely appropriate for large-scale pharmaceutical trials may not be appropriate for studies to try and improve our knowledge of rare diseases."

There were also suggestions that the National Institute for Health and Clinical Excellence (NICE) could have a future role in helping to translate research findings into practice. A team with expertise in genomic translational medicine could be set up within NICE to analyse successful research findings carried out by NIHR centres and review then in a similar manner to other diseases, with guidelines on how to implement the new research findings then being issued to the NHS, it was proposed.

And on speeding the uptake of new treatments, some people suggested that the early involvement of commissioners could be of help here, facilitated by a formal channel of communication between the NIHR and the new Specialised Services Commissioning Innovation Fund. 

The Department has said that it aims to publish the UK Plan for Rare Diseases during the first half of 2013, in line with the European Council Recommendation on Rare Diseases.