Case Studies

Hispanic/Latino populations face systemic barriers to accessing genetic testing and are underrepresented in cancer genomic variant commons. This case study explores the experiences of Hispanic/Latino communities with inherited cancer risk testing and the perspectives of multiple stakeholder groups on how to improve equitable engagement of Hispanic/Latino groups with genetic testing.

This case study recounts the history of data sharing and data resources for inherited genomic variants associated with cancer risk. The development of a sustainable, effective, and transparent “commons” for such variants must take into account previous data-sharing attempts, taking inspiration from each to build on past achievements and avoid prior mistakes.

Melissa Cline, Director of the BRCA Exchange at the University of California at Santa Cruz, is leading a team to explore the social, ethical, regulatory, and logistical concerns associated with federated data analysis and genomic data sharing from the perspectives of both healthcare data-holding institutions and cancer advocacy organizations and community members. While the goal of the current study is to better understand these perspectives and concerns rather than to establish formal collaborations, the study results will be used to inform BRCA Exchange as it develops a system for analysis of genomic variants associated with inherited cancer risk and may facilitate future collaborations.

This case study will go over the history of BRCA. The full significance of these genes as tumor suppressors involved in DNA repair was not yet known, but the discovery of cancer-associated variants in these two genes would go on to illustrate the role of complex genetic traits in breast and ovarian cancer risk.

Following the Supreme Court case decisions of Mayo Collaborative Services v Prometheus Laboratories (2012) and Association for Molecular Pathology v. Myriad Genetics (2013), the purpose of this case study is to determine (if applicable) a potential “increase”, “decrease”, or “no change” in various outcomes from the case.

We identified the top companies offering hereditary cancer tests and extracted data on their available tests. Combining this with data from ClinVar, we provide a snapshot of the landscape of hereditary cancer. We use network analysis tools to provide a visualization of the relationships between genes, companies, and clinical guidelines, supplemented with descriptive statistics.

The current under-representation of Indigenous groups in genomic variant databases could exacerbate inequities in hereditary cancer, but efforts to increase representation are hindered by a history of untrustworthy research institutions that makes Indigenous communities hesitant to participate. Our work describes some of the key considerations needed to address this complex problem.

This case study will examine the patterns of resource use/provision in the hereditary cancer genomic variant commons over time to increase our understanding of how outcomes in a knowledge commons influence institutional arrangements and collective action.