Diagnostic test interpretation and referral delay in patients with interstitial lung disease

et al. 2021

Orphanet J Rare Dis

Background Diagnostic precision and the identification of rare diseases is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next tertiary medical facility with highly specialized care and the diagnostic precision, especially for rare diseases. Results Using a nation-wide hospitalization database, we found a negative association between diagnostic diversity and travel time to the next tertiary referral hospital when including all cases throughout the overall International Classification of Diseases version 10 German Modification (ICD-10-GM) diagnosis codes. This was paralleled with a negative association of standardized incidence rates in all groups of rare diseases defined by the Orphanet rare disease nomenclature, except for rare teratologic and rare allergic diseases. Conclusion Our findings indicate a higher risk of being mis-, under- or late diagnosed especially in rare diseases when living more distant to a tertiary medical facility. Greater distance to the next tertiary medical facility basically increases the chance for hospitalization in a non-comprehensive regional hospital with less diagnostic capacity, and, thus, impacts on adapted health care access. Therefore, solutions for overcoming the distance to specialized care as an indicator of health care access are a major goal in the future.

Section: Discussionmentioning

confidence: 99%

Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities

et al. 2021

Orphanet J Rare Dis

“…In idiopathic pulmonary brosis early treatment can slow down disease progression and therefore the decline in lung function (22). Those low prevalent diseases with nonspeci c symptoms as interstitial lung diseases (cough, dyspnea) are explicitly in danger to have a diagnostic delay (3,23). In Glucose transporter-1 de ciency syndrome ketogenic diet reduces the frequency of seizures and severity of motoric impairment (24).…”

Section: Discussionmentioning

confidence: 99%

Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities

et al. 2020

Preprint

Background: Diagnostic precision and the identification of rare diseases (RDs) is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next tertiary medical facility with specialized care and the diagnostic precision, especially for rare diseases.Results: We found a negative association between diagnostic diversity and travel time to the next tertiary hospital when including all cases throughout the overall International Classification of Diseases version 10 German Modification (ICD-10-GM) diagnosis codes. This was paralleled with a negative association of standardized incidence rates in all groups of rare diseases except for rare teratologic and rare allergic diseases.Conclusion: Our findings indicate a higher risk of being mis-, under- or late diagnosed especially in rare diseases when living more distant to a tertiary medical facility. Greater distance to the next tertiary medical facility basically increases the chance for hospitalization in a non-comprehensive regional hospital with less diagnostic capacity, and, thus, impacts on adapted health care access. Therefore, solutions for overcoming the distance to specialized care as an indicator of health care access are a major goal in the future.

“…In idiopathic pulmonary brosis early treatment can slow down disease progression and therefore the decline in lung function (22). Those low prevalence diseases with unspeci c symptoms as interstitial lung diseases (cough, dyspnea) are explicitly in danger to have a diagnostic delay (3,23). In Glucose transporter-1 de ciency syndrome ketogenic diet reduces the frequency of seizures and severity of motoric impairment (24).…”

Section: Discussionmentioning

confidence: 99%

Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities

et al. 2020

Preprint

Background Diagnostic precision and the identification of rare diseases (RDs) is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next tertiary medical facility with specialized care and the diagnostic precision, especially for rare diseases.Results We found a negative association between diagnostic diversity and travel time to the next tertiary hospital when including all cases throughout the overall International Classification of Diseases version 10 (ICD-10) diagnosis codes. This was paralleled with a negative association of standardized incidence rates in all groups of rare diseases except for rare teratologic and rare allergic diseases. The effect started at travel times of > 21 minutes.Conclusion Our findings indicate towards a higher risk of being mis-, under- or late diagnosed especially in rare diseases when living more distant to a tertiary medical facility. Greater distance to the next tertiary medical facility basically increases the chance for hospitalization in a non-comprehensive regional hospital with less diagnostic capacity, and, thus, impacts on adapted health care access. Therefore, solutions for overcoming the distance to specialized care as an indicator of health care access are a major goal in the future.