Toland Amanda Ewart, Forman Andrea, Couch Fergus J, Culver Julie O, Eccles Diana M, Foulkes William D, Hogervorst Frans B L, Houdayer Claude, Levy-Lahad Ephrat, Monteiro Alvaro N, Neuhausen Susan L, Plon Sharon E, Sharan Shyam K, Spurdle Amanda B, Szabo Csilla, Brody Lawrence C
1Departments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210 USA.
2Fox Chase Cancer Center, Philadelphia, PA 19111 USA.
NPJ Genom Med. 2018 Feb 15;3:7. doi: 10.1038/s41525-018-0046-7. eCollection 2018.
Clinical testing of and began over 20 years ago. With the expiration and overturning of the patents, limitations on which laboratories could offer commercial testing were lifted. These legal changes occurred approximately the same time as the widespread adoption of massively parallel sequencing (MPS) technologies. Little is known about how these changes impacted laboratory practices for detecting genetic alterations in hereditary breast and ovarian cancer genes. Therefore, we sought to examine current laboratory genetic testing practices for /. We employed an online survey of 65 questions covering four areas: laboratory characteristics, details on technological methods, variant classification, and client-support information. Eight United States (US) laboratories and 78 non-US laboratories completed the survey. Most laboratories (93%; 80/86) used MPS platforms to identify variants. Laboratories differed widely on: (1) technologies used for large rearrangement detection; (2) criteria for minimum read depths; (3) non-coding regions sequenced; (4) variant classification criteria and approaches; (5) testing volume ranging from 2 to 2.5 × 10 tests annually; and (6) deposition of variants into public databases. These data may be useful for national and international agencies to set recommendations for quality standards for clinical testing. These standards could also be applied to testing of other disease genes.
[具体基因名称1]和[具体基因名称2]的临床检测始于20多年前。随着[具体基因名称1]和[具体基因名称2]专利的到期和被推翻，对哪些实验室可以提供商业检测的限制被取消。这些法律变化发生的时间与大规模平行测序（MPS）技术的广泛采用大致相同。关于这些变化如何影响遗传性乳腺癌和卵巢癌基因中基因改变检测的实验室操作，人们知之甚少。因此，我们试图研究目前针对[具体基因名称1]和[具体基因名称2]的实验室基因检测操作。我们进行了一项包含65个问题的在线调查，涵盖四个领域：实验室特征、技术方法细节、变异分类和客户支持信息。八家美国实验室和78家非美国实验室完成了调查。大多数实验室（93%；80/86）使用MPS平台来识别变异。实验室在以下方面存在很大差异：（1）用于检测大片段重排的技术；（2）最小读深度的标准；（3）测序的非编码区域；（4）变异分类标准和方法；（5）每年2至2.5×10次的检测量；以及（6）将变异存入公共数据库。这些数据可能有助于国家和国际机构为[具体基因名称1]和[具体基因名称2]的临床检测制定质量标准建议。这些标准也可应用于其他疾病基因的检测。
