- 作者：C. Quantin ; F. Galacteros ; G. Moutel ; M. Fassa ; S. Franrenet ; R. Nzouakou ; N. Duchange ; M. Fieschi ; S. Sudraud ; C. Herve ; O. Cohen
- 关键词：Medical files ; Homozygous sickle-cell anaemia disease ; Rare disease ; Information sharing with the patient
- 刊名：IRBM
- 出版年：2010
- 出版时间：May 2010
- 年：2010
- 卷：31
- 期：2
- 页码：127-130
- 全文大小：138 K
The main objective of INFORARE project is to organize the gathering, assessment and sharing of medical information between sickle-cell anaemia patient and the health workforce. The method is based on the: evaluation of the sickle-cell anaemia patients’ acceptability of the familial data collection; centralised management of medical files which have been rendered anonymous; proposition of an identification model for sickle-cell anaemia patients and the evaluation of first the feasibility of the identification data collection, second the data linkage quality.
Results
Semi-directive interview method undertaken by LEM permitted to interview 43 patients, six association members, and six health workforce personals regarding acceptability of the familial data collection. The informatics platform ensuring the centralised management of sickle-cell anaemia patients’ medical files has been very appreciated by clinicians. The familial component identification model contains anonymous identification data of patients and their parents. Due to data collection difficulties of 692 included patients, this familial component identification model cannot be implemented in terms of linking sickle-cell anaemia patient data with her/his family data.
Discussion and conclusion
The information system model for sickle-cell anaemia disease should be extended to other rare diseases which need to organize the federation and sharing of medical information among patients, the health workforce, and patients’ families. The convivial application contains very useful data for clinical, biological and epidemiological studies, thus facilitates the relationship with other research programmes. Taking into account the familial dimension of the information will increase the potential knowledge extraction and utilization of genetic and multifactorial diseases.