|
美国犹他州盐湖城有一家公司：麦利亚德基因或译巨数遗传（Myriad Genetics）拥有两个基因“BRCA1”和“BRCA2”的专利，这两个基因与乳腺癌的发病密切相关，了解两个基因的情况，能为患者提供一系列的预防和保护措施。BRCA1基因及其致病相关性发现于1990年，尽管当时该研究受政府资助，但是其研究成果却被私人化，成为垄断销售的独门武器。美国最高法院曾于2013年裁决允许其他公司也能进行该检测。 2016年5月19日，美国乳腺癌患者向美国联邦政府起诉该公司违背联邦规章拒绝向患者提供所有基因组数据，其中一位患者希望将其数据分享至研究数据库中，但却遭该公司无数次拒绝。英国《自然》编辑对此进行了报道。 包括该公司在内的基因检测实验室通常为客户提供增加疾病风险的基因变异，包括可能致病或意义不明的变异。几乎每个人都携带一些被认为是良性的变异，但企业通常不会向客户告知这些信息。研究人员通过分析数千个癌症基因检测数据，发现有些良性变异可能具有危险性，甚至可能向未预料的方向转变，这就是为何在本案中患者希望该公司公开其所有基因组数据而不仅是致病变异的原因。 在起诉书中，美国公民自由联盟（ACLU）及原告称该公司违背了美国联邦政府2016年1月份出台的规章：个人有权获取测试生成的完整基因信息。联邦官员表示，该规章基于健康保险流通与责任法案。 该公司表示从未听过这则新规章，公司发言人表示，该公司每天至少收到40个询问测试结果的请求，其中99.9%的目的是了解致病变异或不明变体，而这些基本都包含在检测报告中，但在本案中，患者寻求的是良性变异，信件投诉以1月份的规章为依据，公司在收到该信件后才发现美国联邦政府规章的变化。然而，该公司并没有立即答复患者，而是再次发送常规的测试结果。 不过此后，该公司员工与其他检测公司和美国临床实验室学会代表一起迅速前往华盛顿以了解新规章规定的义务。联邦官员向他们解释了新规章确实包括良性变种，该公司表示将即刻整理该部分信息，并根据要求向所有患者发送相关信息。 然而，美国公民自由联盟的乳腺癌患者代表对此并不满。原告之一在5月19日的新闻发布会上陈述：“我的身体，我的血液，我的数据，如何分享应该是我自己的选择”。十年前，49岁的原告被诊断为浸润性乳腺癌，她听从了医生的建议，接受了该公司的BRCA1和BRCA2基因检测，但她收到的检测结果却模棱两可——BRCA1和BRCA2基因均存在不明变异。原告希望这些信息被研究人员广泛使用，尤其希望将这些数据分享至公共数据库中。 在此之前，该公司曾引起一些科学家的愤怒，与其他测序公司不同，他们拒绝将志愿者的BRCA1及BRCA2数据提交至公共数据库，然而该公司却解释这是为了保护患者的隐私。已有科学家发动研究探索该公司的检测结果，作为备用。其中一位科学家，哈佛医学院病理学教授致信支持美国公民自由联盟的投诉，此举得到了全球基因组学与健康联盟两位领导人的支持，他们正为综合BRCA基因数据而努力，呼吁美国联邦政府明确表述该规则中关于变体的规定，包括良性变体的判决。然而，该公司s则认为此次投诉是无事生非。 美国公民自由联盟想要的却不止这些，美国公民自由联盟高级律师表示，她们需要知道该公司态度的变化，此外她还提到在1月份规章改变之前，曾有另外一位患者向该公司提出获取多态数据的请求，但同样被拒绝了。解决该问题的最好方法是分享，并向有需求的患者提供这些数据。 Nature. 2016 May 26;533(7604):449. Myriad Genetics caught in data fight Myriad Genetics embroiled in breast-cancer data fight - again. Complaint to US government alleges that diagnostics company violated individuals' right to access health information. Erika Check Hayden. Many breast-cancer researchers support open-access databases of genetic data. Genetic-testing firm Myriad Genetics is facing a legal challenge from people who say the company refused to give them access to their own genomic data, in violation of a US government rule on medical records. Although Myriad has now agreed to release the data to those individuals, the patients are pressing ahead with their complaint to the US government. The skirmish is the latest in a long-running war between Myriad and data-sharing advocates, and it could ultimately force the company to provide genetic information that patients could then share with scientists. The patients, who are represented by the American Civil Liberties Union (ACLU), filed the complaint on 19 May with the US government alleging that Myriad, of Salt Lake City, Utah, had declined to release complete results of tests for the genes BRCA1 and BRCA2. Some variants of these genes are linked to higher risk of cancer; for others, the link to disease is unclear or the variants are considered to be harmless. Myriad refused to report ‘benign' BRCA variants back to patients when they requested this information in February. The ACLU says that the company's denial violates a rule released by the US government in January that gives patients the right to obtain their full lab test results under the Health Insurance Portability and Accountability Act. Breast-cancer survivor AnneMarie Ciccarella, one of the people who filed the complaint, said that she wants access to her complete data so that she can share it with scientists who are trying to understand the genetic contributions to cancer. "I want to see that the research community has access to every bit of data that has been generated from my body," she said. On 18 May, after the ACLU announced a press conference to discuss the complaint, Myriad released the data that Ciccarella and her three co-complainants had requested. "We believe the complaint lacks merit and should not be accepted," the company said in a 19 May statement. Seeking certainty Ciccarella and the others who brought the complaint are pressing ahead with their case, in part to set the precedent that companies must legally provide the full results of genetic tests — not release it on a voluntary basis. Observers say that makes sense, especially given Myriad's history. The company had previously tried to block rivals from providing BRCA tests, asserting that it held patents that gave it the exclusive right to perform such diagnostics. That changed in June 2013, when the US Supreme Court invalidated Myriad's patents after the ACLU mounted a legal challenge. Myriad has not shared its large database on thousands of BRCA variants, despite requests from researchers studying the genetics of breast cancer. But it may now be forced to provide individual results on a patient-by-patient basis if the government decides to accept the latest complaint. "If I were the plaintiffs, I'd want to make sure the government said that Myriad had to do what it did," says lawyer and bioethicist Hank Greely at Stanford University in California. "If you're a consumer advocate in the health-care space, Myriad may not be a company you trust." Heidi Rehm, a geneticist at the non-profit company Partners Healthcare Personalized Medicine in Cambridge, Massachusetts, drafted a statement of support for the complaint against Myriad. She says that as researchers learn more about genetic risks of cancer, they're finding that variants once considered benign might actually contribute to cancer risk. Rehm and other researchers are pushing for companies and individuals to share their genetic test data with open databases such as ClinVar, and she says that the push for data sharing is gathering increasing momentum. US insurance company Aetna, for instance, has said that it will favour testing companies that deposit data in ClinVar. And the US Food and Drug Administration is considering whether to give companies incentives to deposit their tests results in the database. PMID: 27225096 DOI: 10.1038/nature.2016.19953 |
|
|
