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Using Myriad as Case Study, Paper Urges Europe to Ensure Greater Access to Genetic Test Data

NEW YORK (GenomeWeb News) – The proprietary collections of genetic testing data amassed by US diagnostics companies effectively give them competitive advantages and can negatively impact the testing market and make it harder for doctors to interpret patient results, according to a paper published today in the online edition of the European Journal of Human Genetics.

Genetic testing companies in the US, such as Myriad Genetics, have collected proprietary information from their patients that enhances their ability to interpret test results, but they can keep others from accessing such important interpretive information, according to the paper.

Though the paper's authors noted that there are several testing companies collecting such proprietary data, they used Myriad as a case study because of its position as the sole commercial BRCA1/2 diagnostic test provider in the US and because the Myriad test is "one the most commercially successful genetic tests worldwide." Myriad's patents covering BRCA1/2 testing are at the center of an ongoing legal challenge that has made its way to the US Supreme Court.

Myriad, they noted, has compiled information on thousands of patients regarding "variations of unknown significance" (VUS), which can affect how patients' tests are interpreted, and the company's failure to share this interpretive information can keep some clinicians and patients from making fully informed clinical decisions.

At the same time, Myriad and other companies have access to publicly-available resources like The Human Gene Mutation Database, the Human Variome Project, the Leiden Open Variation Database, and others, the authors point out.

"Myriad has access to public databases in interpreting mutations, but outsiders do not have access to Myriad’s database," Robert Cook-Deegan, lead author on the paper and a research professor at the Duke Institute for Genome Sciences and Policy at Duke University, and his co-authors wrote. "This asymmetry has clinical impact: a woman might be able to receive BRCA testing from another laboratory in Malawi or Malta, where Myriad’s BRCA patent rights are not in force and testing is perfectly legal, but that laboratory will have no access to Myriad’s data and will thus be unable to interpret many VUS results."

Myriad contributed its data to public databases until 2004, but after that it adopted a policy of retaining its data as a trade secret, and the US has not taken steps to make such companies deposit these data sets into public databases, according to the paper.

"I hope European countries will do what the United States has so far failed to do by requiring laboratories to share their data as a condition of payment for or regulatory approval of laboratory services," Cook-Deegan said in a statement.

"A national healthcare system could refuse to pay for tests that they cannot independently verify or interpret. Or perhaps Myriad will decide to resume sharing their data - wouldn't that be nice?" Cook-Deegan added.

The co-authors on the paper include John Conley, a professor of law at the University of North Carolina at Chapel Hill's Center for Genomics and Society; James Evans, a professor at UNC's Department of Genetics; and Dan Vorhaus, an attorney with Robinson, Bradshaw and Hinson.

"We are very concerned that such important data is being withheld from those who most need it," Martina Cornel, chair of the European Society of Human Genetics' Professional and Public Policy Committee, said in a statement today.

Cornel echoed the paper's authors' suggestion that the interpretation of variants of unknown significance is "essential" to proper counseling of genetic testing patients, and that it could impact preventive or therapeutic guidance as well.

"By not sharing their data on the VUS obtained from individuals undergoing BRCA1/2 testing, where Myriad is the sole commercial provider of a test in the US, geneticists have been unable to develop the up-to-date algorithms that are necessary to best interpret the effects of genetic variants," Cornel said.

"Myriad's stated aim to enter the European market more vigorously may lead to unfair competition with academic institutions for predictive precision. It is vital that progress towards personalized medicine, which holds out so much promise, is not hindered by companies maintaining private genomic databases."

Cook-Deegan and his co-authors proposed that Europe adopt policies that leverage the influence of scientific journals and other organizations to apply existing disclosure standards to companies such as Myriad in their publication guidelines.

Another proposal suggested that databases, such as the National Institutes of Health's Genetic Testing Registry, could mandate that test providers share sequence data and interpretive algorithms as a condition of listing their tests in the database. Physicians' organizations could demand access to clinical data and algorithms, and the data could be reported following rules established by ESHG or similar scientific or medical organizations.

The authors also proposed that payers and regulators in national health systems through their reimbursement and other policies could ensure independent validation of clinical inferences about genetic variants and request or demand the underlying clinical data supporting those inferences.

National and international institutions also could fund research designed to recreate the data in proprietary databases by ensuring that the results of genetic analysis get incorporated into large databases, they said.

"Policymakers should take an urgent look at the regulatory and reimbursement issues involved in genomic testing in order for all the data that is essential to understanding the clinical significance of VUS to be made public, to the benefit of patients and healthcare providers alike," Cornel said.

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