Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

Cost-effective health care depends on high-quality triage. The most challenging aspect of triage, which GPs confront on a regular basis, is diagnosing rare but serious disease. Failure to shoulder any risk in this situation overloads the health system and subjects patients to unnecessary investigation. Adopting too high a risk threshold leads to missed cases, late diagnosis, and sometimes avoidable death. It also undermines the credibility of primary care practitioners. Quantification of diagnostic risk suggests there is a potential risk gap between the maximum certainty with which GPs can assess the risk of serious disease at presentation and the minimum certainty required by many health systems for further investigation or hospital referral. Physician gut-feeling and diagnostic safety netting are often employed to fill the gap. Neither strategy is well defined or well supported by evidence. It should be possible to reduce the diagnostic risk gap cost-effectively by adopting more explicit diagnostic algorithms and providing better GP access to new diagnostic technologies. It is also essential, given the decreasing experience of triage clinicians employed in a number of countries, that a teachable evidence base is constructed for gut feeling and diagnostic safety netting. However, this construction of an evidence base requires very large-scale studies, and the global primary care research community remains small. The challenge therefore needs to be met by urgent and effective international collaboration.

The impact of delayed diagnosis of cystic fibrosis (CF) on families is poorly described, especially in the United States. Studies outside the United States indicate that misdiagnosis leads to increased anxiety, guilt, anger, and mistrust of the medical profession, and late diagnosis leads to more negative feelings about the pre-diagnostic period and less confidence in the medical profession. To describe the impact of delayed diagnosis on US families, diagnostic stories were requested on the CF Research, Inc, e-mail list in September 2003. Twenty diagnostic stories were returned, and 20 additional stories were found on the Cystic-L listserv dating back to 1997. Stories were condensed into that of a single family and a qualitative description of the symptoms, medical and family responses at different life stages provided, along with health and family sequelae if the diagnosis had occurred at various ages. Responses to symptoms differed by age. Families were frustrated and stressed by diagnostic incompetence. Ineffectual care led to long-term anxiety, emotional trauma, and self-doubt. Families suffered economic losses. Relationships with one another and with doctors were seriously affected. CF parents consistently expressed that newborn screening would help others avoid the pain they suffered by not knowing the diagnosis earlier.