QJM Advance Access originally published online on January 20, 2006
QJM 2006 99(2):123-124; doi:10.1093/qjmed/hcl006
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Correspondence |
Management of rare diseases
Sir,By some strange coincidence (I cannot believe it was editorial collusion) there are articles on rare and ultra-rare diseases in both the British Medical Journal1,2 and the concurrent QJM.3 All three articles raise the question of who, if any one, should pay for the medication of sufferers of such conditions. All take for granted that treatment for such diseases is very expensive and will take an unfair slice of the financial cake for health care. However, this is not necessarily true.
Originally, the introduction of drugs for rare disease was an academic preserve, thus avoiding the huge cost of commercial development and licensing, as illustrated by Karch's book ‘Orphan Drugs’,4 published in 1982, and also discussed in some detail at the Leeds Castle conference ‘Orphan Diseases and Orphan Drugs’ (1986).5 At this conference, representatives of many disciplines were present, including ‘... government, both the legislative and the executive branches has been joined with industry and with academic physicians to discuss the problems raised for us all by orphan diseases and orphan drugs'. Also present was Professor the Rev. Gordon Dunstan, to keep the delegates au fait with the ethical implications of what was proposed.5 Neither of these two important contributions was referenced in any of the recent articles, and there was only a passing reference to the meeting on rare diseases held at the Royal College of Physicians in the autumn of 2004.
The emphasis in the three recent publications is principally on ‘cost-effectiveness’. To quote McCabe's article:1 ‘Moreover these competing concepts of equity are not specific to rare diseases and can not justify their special treatment’; in the summary ‘Valuing health more highly for rare conditions is incompatible with other equity principles and theories of justice’; and ‘The cost effectiveness of orphan drugs should be treated in the same way as for other technologies’. For the individual patient, any drug which saves him from untimely (and probably unpleasant) death is cost-effective, although this may not be so for the community in general. However, the ‘orphan patient’, by virtue of taxes paid, is just as entitled to treatment by the Health Service as anyone else.
I raised this question with Gordon Dunstan at the Leeds Castle conference. I felt that as the physician in charge of a patient with a rare disease, it was my duty to do the best I could for that individual, irrespective of its effect on other patients. He agreed that this was the correct approach. However, when I raised the same question at the College of Physicians meeting last year, I was firmly told by the Chair that this was irresponsible and would led at an illogical Health Service, a view with which I strongly disagreed.6 But it is obvious that for the administrator, if the money spent on a patient with a rare disease will cure 10 patients with a common disease his duty is mutually contradictory with that of the individual physician. I do not see a compromise between these two approaches to the problem.
Another question raised is that of both efficacy of the orphan drug and its safety. Such drugs must be rigorously appraised on both respects. Most authors agree that for rare diseases, it is almost impossible to set up a double-blind controlled trial because of the paucity of cases, and risk–benefit assessment must differ between (say) a treatment for headache and a life-saving medication. As Scheinberg said at Leeds Castle: ‘My God! There's aziridine, which may possibly be made in the synthetic process, and 30 years down the line they may get cancer—let them die of their Wilson's disease first!’ A word frequently used by Gordon Dunstan, not to be found in any of the recent publications, was ‘compassion’. In the search for cost-effectiveness, this seems to have slipped out of the vocabulary. If new orphan drugs are to be properly assessed, it is a sine qua non that this be done at specialist centres where the doctor in charge sees all new cases and follows them up, but is backed by adequate laboratory facilities. In my experience, patients with rare diseases treated in other locations seldom receive optimum management, and funding one centre is easier to organize, whether it be from the local Trust, industry, a grant-giving body or a research council.
A point that I have not seen raised anywhere is the funding of major organ transplants. In terms of the criteria being applied to orphan diseases, the cost of such transplants is certainly not cost-effective. How many hernia operations could be performed for the cost of a liver transplant, and how much blood saved from the blood banks? I doubt whether any minister would dare to put a stop to such operations, but it would not be illogical.
Finally, it should be remembered that much has been learned about disease pathogenesis and even normal physiology by studying orphan diseases, and this we should surely value.
Department of Neurology The Middlesex Hospital London
References
1. McCabe C, Claxton K, Tsuchiya A. Orphan drugs and the NHS; should we value rarity? Br Med J 2005; 331:1016–19.
2. Burls A, Austin D, Moore M. Commissioning for rare diseases: view from the frontline. Br Med J 2005; 331:1019–21.
3. Hughes DA, Tunnage B, Yeo ST. Drugs for exceptionally rare diseases: do they deserve special status for funding? Q J Med 2005; 98:829–36.[Web of Science]
4. Orphan Drugs. Karch FE, ed. New York, Marcel Dekker, 1982.
5. Orphan Diseases and Orphan Drugs. Scheinberg IH, Walshe JM, eds. Manchester, Manchester University Press, 1986.
6. Walshe JM. The management of rare diseases. Clin Med 2005; 5:81–2.[Medline]
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