J Am Med Inform Assoc - A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.

Tópicos

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Resumo

CKGROUND: Although rare disease patients make up approximately 6-8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented.METHODS: To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records.RESULTS: The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries.CONCLUSIONS: The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients' eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here.

Resumo Limpo

ckground although rare diseas patient make approxim patient europ often difficult find necessari expertis diagnosi care patient number need rare diseas research second french nation plan rare diseas highlight necess better care coordin epidemiolog rare diseas clinic data standard normal exchang rare diseas patient data propos origin methodolog use build french nation minimum data set fmdsrd common expert rare diseas center presentedmethod encourag consensus nation level homogen data collect point care rare diseas patient first identifi four nation expert group review scientif literatur rare diseas common data element cdes order build first version fmdsrd french rare diseas expert center valid data element des result fmdsrd review approv nation plan strateg committe repres hl electron format maxim interoper electron health recordsresult fmdsrd compos des six categori patient famili histori encount condit medic questionnair hl compat can use various ontolog diagnosi sign encod fmdsrd align cde initi rare diseas thus facilit potenti interconnect rare diseas registriesconclus french fmdsrd defin nation consensus can foster better care coordin facilit determin rare diseas patient elig research studi trial cohort sinc countri will need develop standard rare diseas data collect might benefit method present

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