Despite the protections enshrined in law, the right of patients with rare diseases to access treatment has been questioned. Here we counter some potential objections to our analysis.
Rarity not valued by society
It has, incredibly, been argued that there is inadequate evidence that society values equal opportunity for citizens affected by rare diseases to justify their high cost of treatment [
52].
This is inaccurate, as shown by orphan drug enactments throughout the world, drawn up and ratified by parliaments representing a majority of each population, including the EU. The human rights and disability legislation considered above are further if indirect legal pronouncements of this view. These legal expressions of the society show rarity is to be valued.
Further, while pressure to reduce excessive cost must be exerted [
14], current price levels result directly from the marketing monopoly provided by the orphan drug acts. It can be argued that the enactment of the EU Regulation 141/2000 without any price caps implies that society is willing to forego traditional cost-effectiveness measures for orphan medicinal products. One might respond that the financial impact of foregoing price caps was not known at the time. However, by the time the EU came to enact Regulation 141/2000, the US Orphan Drug Act had been in place for 17 years, and the problem of “unreasonably high” orphan drug costs had been aired even before the US House of Representatives [
53]. Thus the impact of not capping prices was – or should have been – well known in Europe.
The cost of orphan drugs is unusually high for a disability
The public justifiably spends very substantial sums on providing wheelchair access. It would be unthinkable to propose limiting access to the British Museum to wheelchair users, or to apply a QALY-metric to see if such access is cost effective. Society is reluctant to cost certain things, even when lives are not at stake. No sound distinction can be drawn between a wheelchair-bound patient whose disability may never improve, and a patient with an orphan disease whose treatment only stabilises their clinical condition and does not reverse it (although many orphan drugs demonstrate such efficacy). Challenging funding for high cost orphan treatments therefore rests on an unjustifiable double-standard.
Floodgates of disability
Innumerable conditions could be characterised as a disability, allowing access to rare disease and other treatments under the disability (and human rights) legislation irrespective of cost. This would open the flood gates of reimbursement for various conditions. The correct view must be that it is for each patient or group to argue why their condition should be classified as a disability (and patients need not have special public appeal or be well organised to so argue – most of the legal cases we showcase above have been brought by single individuals). Should they, too, succeed, this is a legitimate result of the wording of the legislation. If costs become untenable, this must be addressed on a governmental level, and not at the expense of an individual disabled citizen or small patient group.
Disproportionate burden
Finally, some may contend that orphan treatments place a disproportionate burden on health services. This is a limitation felt acutely by the Courts when reviewing decisions of public authorities: “it is for the authority, not the court, to allocate resources within its limited budget to the best advantage of its many patients” [
56,
57]. The Court has suggested that had a trust refused Herceptin treatment on the basis of budget constraints rather than personal characteristics, “it would be very difficult, if not impossible, to say that such a policy was arbitrary or irrational” [
36]. Similarly, in granting access to Avastin, the High Court indicated that it might have found differently if resource scarcity had been a “decisive feature” [
41].
Our response is six-fold.
First, prices flowing from the EU Regulation 141/2000 are arguably not so disproportionate as to prevent reimbursement. After all, the legislation was approved without price caps. EU citizens therefore foresaw and accepted the impact of orphan medicinal products on the public purse (subject to the broader legal framework of the EU, including the need to avoid abusive pricing [
14]).
Second, in assessing the budget impact of a rare disease therapy, the burden of the cost should not be considered only at the present date, but over the lifetime of a patient. It is hoped that the prices will decrease after the 10 year exclusivity periods expire and competing therapies enter the market. Further, a healthier patient can partake in employment, pay taxes and become a net economic contributor despite the high cost of treatment.
Third, the first principle of the current UK commissioning regime is to source services from providers best placed to cater to patients’ needs [
26]. In the orphan field the producer of a treatment is best placed to satisfy such needs: due to the monopoly regime, the choice is normally between the only existing and therefore best (and best value) treatment, and no treatment at all. The commissioning regime thus supports the funding of orphan products.
Fourth, despite the English Courts’ timidity in interfering with priority setting, they do expect local authorities to prioritise serious illnesses [
42] and consider statutory obligations including the human rights and disability provisions reviewed above. These dual considerations place orphan treatments at the top of any priority setting list.
Fifth, the Courts find it easier to overturn an authority’s denial of treatment where the impact on resources is less marked. This is unjustified. If society and its courts prioritise low-cost therapies, it allows morally arbitrary factors, such as disease prevalence, to determine whether a person can obtain full health.
Finally, every health authority decision carries an opportunity cost and impacts on resource allocation. Courts must therefore be courageous and not deny treatment or judicial review simply to avoid impacting on political resource allocation. Priority setting can be discriminatory and must comply with legal frameworks – a proper oversight role for the Courts. Were this to be otherwise, simply justifying decisions on budgetary grounds could place all decisions of a public authority outside the scope of human rights and discrimination laws, and the remit of judicial review. This is not the intention of the European or United Kingdom Parliament.