- Four people with a family history of cancer, or who have cancer themselves, filed a complaint this afternoon with the US Department of Health and Human services (HHS). It alleges that Myriad Genetics, a genetic testing company leading, violated a federal rule retaining the genomic data that are rightfully theirs. At least one applicant wants to share information with a search database of open access, which Myriad has refused to participate.
In a twist, after the American Civil Liberties Union (ACLU) has informed journalists a press conference ahead of the issue, Myriad changed course and provided patients with information that they asked in February. Despite this movement, ACLU went ahead and helped the patients file the complaint, in part because it covers what the organization describes as a past violation.
A spokesman for Myriad, based in Salt Lake City, said the company is frustrated by the complaint and believes that it should be abandoned.
genetic testing laboratories, including Myriad normally provide customers with information on genetic variants that are known to increase the risk of disease (pathogens) may be pathogenic, or meaning uncertain. But almost everyone also has variants (often called polymorphisms) that are considered benign and companies generally do not send customers information about these variations. But researchers are pooling the data of thousands of genetic tests for cancer, some of these minor variations may be reclassified as dangerous, or can be informative in a way that was not expected. That is one reason why some of the patients involved in the complaint Myriad wanted to provide all of their genetic information, not just information on pathogenic variants.
In the complaint, the ACLU and the plaintiffs, supported by researchers in cancer genetics, that was against Myriad of new regulations promulgated by HHS this past January ". the complete information of the gene variant generated by the test "that individuals have the right to receive payment has been invited, federal officials say, by a federal law known as the law on Health Insurance Portability responsibility and (HIPAA), which among other things regulates the use of medical records and protecting patient privacy.
Myriad said he did not know about the new regulations, which was quietly posted on a blog HHS. In February, the company was surprised to receive seven letters identical terms former clients, said Ron Rogers, a spokesman for Myriad. "It was obvious to us that there was some sort of coordinated effort against Myriad for this information," says Rogers. The company receives up to 40 requests per day for the test results, and "99.9% of them, "says Rogers, are for the usual pathogenic variants or uncertain, the kind included in the reports of the company's patients. In this case, patients wanted polymorphisms-essentially, benign variants. The letters referenced settlement in January.
Following these letters, Myriad discovered the HHS rule change, Rogers said. Yet the company has no immediate information to patients, but provided results that usual tests each patient had received. With representatives of the firm LabCorp test and the American Clinical Laboratory Association, Myriad staff traveled to Washington to meet with HHS officials to better understand their obligations under the new regulations. "We tried to get a meeting ... as quickly as possible" with the office of the Department for Civil Rights, said Rogers. The office "we said how they interpreted the direction, it should include benign variants. We quickly got to work, we have compiled this information, supplemented this request yesterday and sent to all patients."
The four patients represented by ACLU is not appeased. (The organization declined to say if it had worked with the other three.) It is "my body, my blood, my data, my choice that I wish to share my information," said Annemarie Ciccarella, one of complainants, during a conference earlier today to the press. It was ten years ago, Ciccarella was diagnosed with invasive breast cancer at 49 and with a strong family history of cancer, she followed the advice of his doctor and got BRCA1 and BRCA2 tested by Myriad. Mutations in two genes are linked to an increased risk of breast cancer, ovarian and other cancers. Ciccarella results, however, were equivocal; Myriad told her that he found a "variant of unknown significance" to BRCA1 and another on BRCA2 .
Ciccarella wants all its DNA information widely available to researchers, particularly wants to donate to a database called ClinVar. ClinVar collects DNA results on as many people as possible; a separate but related database called Clingen trying to understand what these results mean. (More information on both data banks is here.)
Myriad has provoked the ire of some scientists because the company refused to present his voluminous BRCA1 and BRCA2 data to ClinVar, unlike a number of other test companies. Rogers said it because he wants to protect patient privacy. A pair of scientists has launched an effort to obtain Myriad test results of patients and providers as a substitute. One of them, Heidi Rehm, one of the leaders of Clingen and Associate Professor of Pathology at Harvard Medical School in Boston, wrote a letter of support for the complaint of the ACLU.
Coating with her was Thomas Hudson and Peter Goodhand, two leaders of the World Alliance for Genomics and Health, collaborating trying to improve the sharing of genomic data. It is running a major effort to aggregate data on BRCA genes, called BRCA Challenge. Hudson and Goodhand called the HHS Office for Civil Rights to say explicitly that the settlement "includes calls variants" -Decisions about whether a variation is mild, for example- "and the first sequencing files, giving the patients right under HIPAA to regularly access them and thus contribute to the research and improvement of health. "
" I think it's much ado about nothing, "Rogers said of Myriad complaint. He said that Myriad has already provided polymorphism data in unusual patient who asks, and will certainly do so now, if required under HIPAA.
ACLU wants more assurance than that. "We need to know there is a change in their position," said principal ACLU staff attorney Sandra Park. She says she knows of another person who has submitted a polymorphism data request before the settlement change January, she said, and that was denied by the company. "From February they took the clear position that these data were excluded from what is covered by HIPAA."
Is there a larger goal to pressure Myriad deposit their data in public databases such as ClinVar? Park is oblique. "The best solution to this issue is that Myriad fair share," she said, "and communicates this data to patients who request it."
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