Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):10-2. doi: 10.1016/j.ymgme.2011.03.018. Epub 2011 Mar 26.
As the quality of life for individuals with Down syndrome continues to improve due to anticipatory healthcare, early intervention, mainstreaming in schools, and increased expectations, the lack of basic information regarding individuals with Down syndrome is being recognized, and the need to facilitate research through a national registry, research database and biobank is being discussed. We believe that there should not be ownership of the samples and information, but instead prefer stewardship of the samples and information to benefit the participants who provided them. We endorse a model with data and sample managers and a research review board to interface between the investigators and participants. Information and samples would be coded, and only a few data managers would know the relationship between the codes and identifying information. Research results once published should be included in an online newsletter. If appropriate, individual results should be shared with participants. A Down syndrome registry, research database and biobank should be accountable to participants, families, medical care providers, government, and funding sources.
由于预期医疗保健、早期干预、学校主流化以及期望的提高，唐氏综合征患者的生活质量不断提高，人们开始认识到缺乏关于唐氏综合征患者的基本信息，并且正在讨论通过国家登记处、研究数据库和生物库来促进研究。我们认为，样本和信息不应该归属于任何人，而应该由样本和信息的管理者来管理，以造福提供样本和信息的参与者。我们支持一种模型，其中包括数据和样本管理者以及研究审查委员会，以便在研究人员和参与者之间进行沟通。信息和样本将进行编码，只有少数数据管理者会知道代码和识别信息之间的关系。研究结果一旦发表，就应该包含在在线新闻简报中。如果合适，个别结果应该与参与者分享。唐氏综合征登记处、研究数据库和生物库应该对参与者、家属、医疗保健提供者、政府和资金来源负责。
