The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care
The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care
复制标题
基因组诊所：评估将基因组分析纳入临床护理的机遇和挑战的多学科方法
DOI：
10.1002/humu.22536
复制
发表时间：
2014
期刊：
影响因子：
3.9
通讯作者：
M. Meyn
中科院分区：
文献类型：
--
作者：
S. Bowdin;P. Ray;Ronald D. Cohn;M. Meyn
我们对基因组变异如何影响人类健康的了解越来越多，全基因组测序的成本不断下降，正在推动个体化遗传医学的发展。这种新的临床模式使用个人基因组变异的知识来指导整个生命的医疗保健决策，预测，诊断和管理疾病。虽然个体化遗传医学提供了医疗保健变革的希望，但它迫使我们重新考虑现有的伦理，科学和临床范式。症状前识别风险个体、改进诊断、个体化治疗、准确预后和避免药物不良反应的潜在益处与无法解释的结果、心理伤害、过时的咨询模式和增加的医疗保健成本的潜在风险并存。在这里，我们回顾了将基因组分析整合到临床实践中的挑战，并描述了实施遗传医学的原型。我们的生物信息学家，健康经济学家，伦理学家，遗传学家，遗传咨询师和临床医生的多学科团队设计了一个“基因组诊所”研究项目，解决了基因组医学的多重挑战-从开发用于临床评估基因组变异和发现疾病基因的生物信息学工具到健康政策查询，临床护理模式评估，患者偏好，和同意的伦理
Our increasing knowledge of how genomic variants affect human health and the falling costs of whole‐genome sequencing are driving the development of individualized genetic medicine. This new clinical paradigm uses knowledge of an individual's genomic variants to guide health care decisions throughout life, to anticipate, diagnose, and manage disease. While individualized genetic medicine offers the promise of transformative change in health care, it forces us to reconsider existing ethical, scientific, and clinical paradigms. The potential benefits of presymptomatic identification of at risk individuals, improved diagnostics, individualized therapy, accurate prognosis, and avoidance of adverse drug reactions coexist with the potential risks of uninterpretable results, psychological harm, outmoded counseling models, and increased health care costs. Here, we review the challenges of integrating genomic analysis into clinical practice and describe a prototype for implementing genetic medicine. Our multidisciplinary team of bioinformaticians, health economists, ethicists, geneticists, genetic counselors, and clinicians has designed a “Genome Clinic” research project that addresses multiple challenges in genomic medicine—ranging from the development of bioinformatics tools for the clinical assessment of genomic variants and the discovery of disease genes to health policy inquiries, assessment of clinical care models, patient preference, and the ethics of consent.
DOI：
10.1056/nejmoa1306555
发表时间：
2013-10-17
期刊：
The New England journal of medicine
影响因子：
--
作者：
Yang Y;Muzny DM;Reid JG;Bainbridge MN;Willis A;Ward PA;Braxton A;Beuten J;Xia F;Niu Z;Hardison M;Person R;Bekheirnia MR;Leduc MS;Kirby A;Pham P;Scull J;Wang M;Ding Y;Plon SE;Lupski JR;Beaudet AL;Gibbs RA;Eng CM
通讯作者：
Eng CM
影响因子：
9.8
作者：
Ford, D;Easton, DF;Vasen, H
通讯作者：
Vasen, H