Policy

In terms of incidence rate, the EU defines rare diseases as those conditions that affect less than 5 out of every 10,000 people. The number of people identified to be affected with a rare disease in Ireland is 140,000, with a potential shortfall of 200,000 people unidentified that are potentially affected by a rare disease (IPPOSI, 2009). This can be crudely rolex replica sale to show that more than 1 in 20 people are affected by a rare disease in Ireland and it is therefore likely that most people, possibly unbeknownst to themselves, are acquainted with a rare disease sufferer. Hence, when considered separately, rare diseases affect small numbers of people in a symptomatically unique way, each requiring different treatments and measures at a micro-level. But when rare diseases are considered collectively they consist of a large number of low population clusters - numbers large enough to be formally recognised by policy makers.

The number of identified or potential rolex replica uk of a specific rare disease is low. Therefore pharmaceutical companies must invest significantly in research and development to bring a new drug through clinical trials and, if successful, to market. The cost of such drugs can become prohibitively high and it becomes the responsibility of the governing state to fund the purchase of drugs to patients of many rare diseases. The decision to provide access to treatment often ultimately lies with government.

It is clear from these statements that a national diplomatic approach is needed to formally recognise the needs of rare disease patients and put structures in place to meet these needs. This has been taken into account at European level with rare diseases being a strategic objective under the EU Health Strategy 2008-2013. Ireland needs to follow in the footsteps of other EU countries and formalise a National Plan for Rare Diseases.

The formulation of a National Plan for Rare Diseases in Ireland is being discussed at the moment, although the delivery date of such a document or policy has not been declared. The following text replica watches some of the major aspects that need consideration within such a plan; the text does not however aim to deal comprehensively with all issues of the proposed National Plan for Rare Diseases in Ireland.

Centres of Excellence

Centres of Excellence are places where patients can visit a multidisciplinary team of specialised clinicians in one place at one time at fixed intervals (e.g. annually, biannually). At present the team of specialised clinicians providing care to a Fabry patient (and likely other rare diseases) may be based at a number of different hospitals, where the number of patients attending with a particular rare disease is so small that when combined with high staff turnover can mean that sufficient knowledge specific to one particular rare disease is missing, with the consequence that patient care is inadequate.

Visits to these various facilities can be irregular, with the end result that coordination of results from different fields to assess a patient holistically is very difficult. Monitoring of rare disease progression is all about trends in data over time and it is important that patients have access to this information, and understand its implications. This hublot replica uk needs to be in one place, assessed by one person with expertise in that rare disease, who possesses a fundamental understanding of when intervention is necessary. Collection of clinical data needs to be coordinated by a single consultant who is familiar with other patients of the same condition, at regular and suitably frequent intervals, at one centre.

It is imperative that these centres provide active genetic counselling to patients known to have extended family members that are potentially at risk of having inherited a condition, without their knowledge. This is particularly important for conditions such as Fabry disease where diagnosis is so difficult, and early intervention is so important. Protocol is required that promotes engagement with persons at risk. The onus should not lie solely on patients who suffer from rare diseases to identify, locate, and inform distant family members who may or may not have inherited these conditions.

More generic counselling should be available within these centres to address further issues or problems that patients of rare diseases can often have, that fall outside the direct remit of medicinal practitioners.

Access to Treatment

Treatment of rare diseases such as inherited metabolic diseases results in major decrease in mortality, morbidity, reduction in major disability, prevention of damage to unborn children, provides reproductive choice, improvement of quality of life, and dramatically increased life expectancy.

It follows that the number of identified or potential patients of a specific rare disease is low and, inversely, the cost of drugs to treat these patients becomes prohibitively high. It is therefore up to the governing state to fund the purchase of drugs to patients of most rare diseases. The decision to provide access to treatment therefore ultimately lies with government.

It would be too simplistic to state that these decisions are based solely upon cost but it is one of the primary deciding factors. The economic based decision making methods and models such as cost effectiveness thresholds of a drug are inefficient, unfair and unsustainable. It is also a dangerous approach given the volatility of economic status, the vulnerability of which has been so recently highlighted here in Ireland. For this reason, formal policy needs to be installed to make access to treatment independent of the financial health of the sitting government. Health technology assessments are an improvement in drug assessments as they increasingly consider the social, moral and ethical issues related to the viability of a drug.

At present, following diagnosis of Fabry disease in Ireland, an application for funding of treatment is made on behalf of the Fabry patient. If successful, treatment is commenced and continued within the appropriate regionalised health agency, and to a degree at the discretion of this health agency.

One would assume that access to medicinal tag heuer replica sale in Ireland is equal irrespective of age, sex, economic status, politics, education, location, region, healthcare provider, lifestyle, coordinating consultant, personnel administering the drug and cost of treatment. Unfortunately this is not always the case.

It is important that a national centralised fund is created and maintained for the treatment of Fabry patients, ideally to be controlled under the remit of a Centre of Excellence. Funding should also continue on an annual basis for each patient from this centralised fund. Formal policies and guidance measures are required to install this method of funding and to remove the above listed ambiguities.

Orphan Drugs and Research

"Objective criteria for designation of orphan drugs should be established; those criteria should be based on the prevalence of the condition for which diagnosis, prevention or treatment is sought; a prevalence of not more than five affected persons per 10 thousand is generally regarded as the appropriate threshold; medicinal products intended for a life-threatening, seriously debilitating or serious and chronic condition should be eligible even when the prevalence is higher than five per 10 thousand" (EC Regulation No. 141/2000).

"Society cannot accept that certain individuals be denied the benefits of medical progress simply because the affliction from which they suffer affects only a small number of people. It is therefore up to the public authorities to provide the necessary incentives and to adapt their administrative procedures so as to make it as easy as possible to provide these patients with medicinal products which are just as safe as and effective as any other medicinal product and meet the same quality standards" (European Commission Review of Orphan Drug Legislation, 2002).

An example of these incentives includes money in the form of tax relief and guaranteed sole rights to provide a drug to market for an introductory period of 10 years.

Research

Additional incentives can be provided in the field of research and development. A National Plan for Rare Diseases may address the research of rare diseases on a categorised basis as appropriate, e.g. cancers, inherited metabolic diseases.

One of the beneficial offshoots to Ireland through providing incentives and promotion of orphan drugs in Ireland is that the development of innovative medicines in the field of rare diseases would make a significant contribution to the growth of the state's knowledge economy.

Patient groups can collectively assist in medical research. This research must be driven directly by patient groups with assistance to be provided by medical institutions (preferably through a centre of excellence) and academic centres. A National Plan for Rare Diseases could provide guidance in this type of cooperative research.

The results and conclusions from this data, and the data collected through patient registries is reported in medical journals. These journals are typically subscription based and in the main inaccessible to the general public or the patients for whom they are supposed to be serving. Research results published in the form of clinical trial reports, book chapters, journal papers, conference papers, poster presentations, etc., need to be made more accessible to patients. This could be achieved through the formation of a network of accessible information through the various media, which would also help raise public awareness of rare diseases.

It is hoped that there is reason to update this section of the Fabry Ireland website as policy changes take place.






Copyright ©Fabry Ireland 2009