The next controversy in genetic testing: clinical data as trade secrets?

Abstract

Sole-source business models for genetic testing can create private databases containing information vital to interpreting the clinical significance of human genetic variations. But incomplete access to those databases threatens to impede the clinical interpretation of genomic medicine. National health systems and insurers, regulators, researchers, providers and patients all have a strong interest in ensuring broad access to information about the clinical significance of variants discovered through genetic testing. They can create incentives for sharing data and interpretive algorithms in several ways, including: promoting voluntary sharing; requiring laboratories to share as a condition of payment for or regulatory approval of laboratory services; establishing – and compelling participation in – resources that capture the information needed to interpret the data independent of company policies; and paying for sharing and interpretation in addition to paying for the test itself. US policies have failed to address the data-sharing issue. The entry of new and established firms into the European genetic testing market presents an opportunity to correct this failure.

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

“…The previous clinical tests used proprietary data 30 and somewhat different interpretation criteria. 80 They also used different nomenclature (eg, deleterious and favor polymorphism), which we mapped onto the ISV five-class nomenclature.…”

“…30,31,80 Efforts to generate open and peer-reviewed databases, such as ClinVar, 89 may help improve quality and consistency between laboratories. The revised ISV guidelines may also help, although a critical element of medical and scientific judgment will continue to play a vital role in variant interpretation.…”

“…In addition, questions have long been raised about the potential for inconsistent variant interpretations between laboratories because of limited access to proprietary data and because of differences in interpretation criteria. 29,30 This is an increasingly relevant area for study, because NGS-based tests from multiple laboratories have emerged in recent years 31 and new guidelines for the interpretation of sequence variants (ISVs) have also emerged. 32 To help address these technical questions, particularly as they apply to hereditary breast/ovarian cancer (HBOC), we tested 1062 patients with an NGS-based 29-gene hereditary cancer panel.…”

Barbarians at the Gate: Consumer-Driven Health Data Commons and the Transformation of Citizen Science

“…Clinical laboratories and healthcare providers have various commercial incentives not to share data that they hold. 152 The data-deposit policies of funding agencies like NIH are not binding on these data holders, although many do voluntarily contribute at least some data to shared public data resources like ClinGen/ClinVar. 153 Commercial data holders' reluctance to share data poses an important barrier to the assembly of large-scale, linked data resources, even as surveys show most individuals would be willing to share.…”

La Cour suprême libère les gènes

“…La question a été soulevée à propos de la base de données de mutations BRCA détenue par Myriad Genetics, dès lors qu'un tel secret entretient le monopole de la firme et est susceptible de gêner l'interprétation médicale des mutations. Des chercheurs ont proposé la création d'une base de données publique pour contourner le secret, ou l'instauration d'une obligation de divulgation des mutations lors des demandes de certification des tests [6]. Les laboratoires concurrents de Myriad Genetics ont porté l'affaire en justice en 2013 pour infraction aux lois antitrust.…”