Université Rennes, CHU de Rennes, service de pharmacologie, Inserm, CIC 1414 35000 Rennes, France.
Institut Roche, 92650 Boulogne-Billancourt, France.
Therapie. 2019 Feb;74(1):9-15. doi: 10.1016/j.therap.2018.11.012. Epub 2018 Dec 21.
Fifteen years after the completion of first human genome sequencing, the technique is almost a commodity but there is still little evidence of its usefulness as a diagnostic, prognostic or therapeutic tool. In France, the France genomics plan 2025 was launched in 2015 with the goal of integrating genomic tests into clinical practice and developing a National genomics network including industrial partnerships. Reflection on scientific applications and operational or societal issues is needed to make recommendations to help better associate Genomics and the medicine of tomorrow. In the perspective of personalized Evidence-based Medicine, studies with an appropriate methodological level to improve the definition of evidence should be promoted. The many operational challenges require the implementation of organisations and means to streamline the process of results reporting, and regulatory adaptations concerning the status of professions involved, the management of data generated, and the consent of patients. In parallel, genetic training for healthcare professionals and raising awareness on genetic tests for the public should be considered. The ethical stake should also be taken into account, especially on the participation of the patient in decisions concerning them and integrating the notion of uncertainty into the information given. The sociological effects on the experience and expectations of patients and the general population towards genomic medicine should also be evaluated to improve information, prevention and support for people. Finally, medico-economic studies must be conducted to inform policy-makers on the cost-effectiveness of complete genome sequencing for population health.
人类基因组测序完成 15 年后，该技术几乎已成为一种商品，但作为诊断、预后或治疗工具的用途仍鲜有证据。在法国，2015 年启动了 2025 年法国基因组计划，目标是将基因组测试纳入临床实践，并建立一个包括工业伙伴关系的国家基因组网络。为了提出建议，帮助更好地将基因组学与未来的医学联系起来，需要对科学应用和运营或社会问题进行反思。在个性化循证医学的背景下，应提倡开展具有适当方法学水平的研究，以改善证据的定义。许多运营方面的挑战需要实施组织和手段，以简化结果报告流程，并对所涉专业人员的地位、生成数据的管理以及患者的同意进行监管调整。同时，应考虑对医疗保健专业人员进行遗传培训，并提高公众对遗传检测的认识。还应考虑到伦理问题，特别是患者在涉及他们的决策中的参与以及将不确定性概念纳入所提供的信息。还应评估基因组医学对患者和一般人群的经验和期望的社会学影响，以改善信息、预防和支持。最后，必须进行医疗经济研究，以便就全基因组测序对人群健康的成本效益为决策者提供信息。
