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迈向日常医学中的临床基因组学:观点与建议。

Toward clinical genomics in everyday medicine: perspectives and recommendations.

作者信息

Delaney Susan K, Hultner Michael L, Jacob Howard J, Ledbetter David H, McCarthy Jeanette J, Ball Michael, Beckman Kenneth B, Belmont John W, Bloss Cinnamon S, Christman Michael F, Cosgrove Andy, Damiani Stephen A, Danis Timothy, Delledonne Massimo, Dougherty Michael J, Dudley Joel T, Faucett W Andrew, Friedman Jennifer R, Haase David H, Hays Tom S, Heilsberg Stu, Huber Jeff, Kaminsky Leah, Ledbetter Nikki, Lee Warren H, Levin Elissa, Libiger Ondrej, Linderman Michael, Love Richard L, Magnus David C, Martland AnneMarie, McClure Susan L, Megill Scott E, Messier Helen, Nussbaum Robert L, Palaniappan Latha, Patay Bradley A, Popovich Bradley W, Quackenbush John, Savant Mark J, Su Michael M, Terry Sharon F, Tucker Steven, Wong William T, Green Robert C

机构信息

a Coriell Institute for Medical Research , Camden , NJ , USA.

b Lockheed Martin , Information Systems & Global Solutions , Rockville , MD , USA.

出版信息

Expert Rev Mol Diagn. 2016;16(5):521-32. doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24.

Abstract

Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the diagnosis of suspected Mendelian conditions and for targeting cancer treatments. Given the burden of illness in our society, it is of interest to ask how clinical genome and exome sequencing can be constructively integrated more broadly into the routine practice of medicine for the betterment of public health. In November 2014, 46 experts from academia, industry, policy and patient advocacy gathered in a conference sponsored by Illumina, Inc. to discuss this question, share viewpoints and propose recommendations. This perspective summarizes that work and identifies some of the obstacles and opportunities that must be considered in translating advances in genomics more widely into the practice of medicine.

摘要

通过临床基因组和外显子组测序实现的精准医学或个性化医疗,被一些人描述为一场可能改变医疗服务提供方式的革命,但目前仅在一小部分患者中使用,主要用于诊断疑似孟德尔疾病和靶向癌症治疗。鉴于我们社会中的疾病负担,探讨如何将临床基因组和外显子组测序更广泛地建设性地整合到常规医疗实践中以改善公众健康,是很有意义的。2014年11月,来自学术界、产业界、政策界和患者权益倡导组织的46位专家齐聚由Illumina公司主办的一次会议,讨论这个问题、分享观点并提出建议。本观点总结了该项工作,并指出了在将基因组学进展更广泛地转化为医学实践时必须考虑的一些障碍和机遇。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6d8/4841021/073933d85fb9/iero_a_1146593_f0002_c.jpg

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