Professional clinical guidelines for rare diseases: methodology

Excerpt

Guidelines are systematically developed statements to assist practitioner and patient decisions about appropriate health care for specific clinical circumstances[1]. They concern often complex diagnostic or therapeutic strategies with several possible interventions at each step, where each intervention has to be assessed and compared with other possible interventions at short and long term for efficacy, effectiveness, efficiency (optional), side effects, quality of life, acceptability, benefits/risks ratio. For common diseases, the methodology and the different steps of the guidelines development process have been established and apply the principles of evidence-based-medicine. Developing guidelines for rare diseases (RD) is more difficult, because of the lack of sound evidence, surveys of clinical practices, data about patients’ opinion and ethical reflexions [2]. …