Could a general rare disease guideline for health professionals help facilitate innovative strategies for working with patients?
Working from the premise that there are simply too many rare diseases identified to provide tailored guidelines for each and every one, the authors of an intriguing article published in the journal Health Policy put forward the notion that a general rare disease care guideline is needed that emphasises a flexible and innovative approach on the part of healthcare professionals, who frequently provide care and treatment for rare disease patients without a specific protocol for good clinical practice. The authors contend that health professionals (including physicians, therapists, nurses, and others) must apply novel techniques and procedures in order to deliver rare disease healthcare services that are effective. Innovative work behaviour (defined as employee-led initiation and the realisation of new ideas within a work role designed to improve role performance) is needed in the absence of specific treatment options for many rare diseases. Such innovation might involve initiating novel approaches or may build upon and adapt existing processes, services or products.
Furthermore, a general guideline that guides rare disease care and treatment could point healthcare workers toward relevant information, such as the pan-European rare disease and orphan drug informational database Orphanet, which the authors state should be “…integrated in the process of establishing treatment guidelines for rare diseases on obtaining relevant information”. The guideline could provide an overview for adopting flexible work roles, networking within a multidisciplinary team to avoid duplication, and establishing cooperation with specialised health centres and between professionals. Such arrangements could empower nurse and therapist workers occupied with the daily care and treatment processes for rare disease patients. The authors call for strengthened communication, in order to allow all healthcare professionals to “feel responsible for displaying innovative behaviour at each stage to improve patients’ long-term care”. A dedicated rare disease guideline could challenge the uncertainty stemming from an absence of specific disease standardised protocols.
Consult the PubMed abstract
Under Italian legislation, the Ministry of Health Decree 279 (DM 279/01) on Rare Diseases provides specific safeguards for patients and establishes a list of rare diseases assigned an Exemption Code, qualifying them for full national health service coverage. This list has not been updated since 2001. After repeated requests to the Ministry of Health to add specific rare conditions to the list, stakeholders have joined together and are circulating a petition demanding that diseases not included under the current scheme be added in. Many of these are conditions identified in the past decade via the advancement of scientific and medical knowledge. While certain regions of the country have recognised and extended care to some diseases not included under Decree 279, rare disease patients in other regions remain without coverage for diagnostics, treatment and care. The Europe-wide petition has been launched to bring attention to this issue. 
A German study taking Marfan syndrome as an example suggests that the quantity or density of health care resources for a rare disease may not necessarily offer an advantage in terms of time to diagnosis or adequate care. Data from 389 Marfan syndrome patients in Germany show that distance to medical health care centres did not particularly influence time to diagnosis. Indeed, “…the involvement of more physicians—who are available precisely because of the high density—might delay immediate diagnosis, as German physicians often work on a stand-alone basis. There is usually neither an institutionalized nor a systematic exchange of information, especially between in- and outpatient care providers. This asymmetry of information among physicians might therefore hinder immediate diagnosis of Marfan Syndrome, a disease with high complexity due to its syndromes in multiple organ systems. Furthermore, selection among physicians by the patient might be less efficient where the supply is more extensive”. The study suggests that enhanced networking amongst multidisciplinary physician teams is necessary for treating patients with rare diseases. Health information technology, such as electronic medical records, is seen as a plausible venue for improving quality via access and adherence to guidelines, coordinating care, and avoiding duplication. 
A convincing commentary appearing in the journal Open Medicine laments the impact the lack of a specific policy for rare diseases and/or orphan drug development and reimbursement has on the field of research in Canada. Pointing out that Canada is “one of only a few developed countries without a national orphan drug program to protect patients with rare diseases from exorbitant drug costs” the author calls into question the research gap existing for rare disease and orphan drug studies in Canada. Indeed, Canada had no funding call specific to rare diseases until 2011 and remains without a specific policy addressing rare disease research, including drug development incentives and patient access to orphan medicinal products. Canada’s current federal-provincial Health Accord, which expires in 2014, presents a window of opportunity for introducing “provisions for a federally designed rare disease strategy to be tied to provincial funding”. Evoking society’s moral obligation to protect each individual’s rights and the principle of “non-abandonment” that allows Canadians timely access to health services “on the basis of need, not ability to pay” the author concludes that “… a right to effective and high-quality care cannot be fulfilled without addressing the fundamental gap in access to scientific advancement and research in rare diseases” . 
