Case Studies


CONSIDERATIONS FOR EQUITABLE ENGAGEMENT OF HISPANIC/LATINO POPULATIONS WITH INHERITED CANCER RISK TESTING

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.

A HISTORY OF DATABASES AND DATA RESOURCES ON INHERITED CANCER-RISK VARIANTS

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.

EVALUATING THE EFFECT(S) OF SUPREME COURT CASE DECISIONS MAYO COLLABORATIVE SERVICES V PROMETHEUS LABORATORIES (2012) AND ASSOCIATION FOR MOLECULAR PATHOLOGY V. MYRIAD GENETICS (2013) ON HEREDITARY CANCER GENETIC TESTING PRACTICES & ACCESS”

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.

LANDSCAPE OF HEREDITARY CANCER GENE VARIANTS AND TESTING

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.

BRACTIVISM – A HISTORY OF BRCA PATIENT ONLINE SUPPORT GROUPS AND COMMUNITIES

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.

KEY CONSIDERATIONS FOR INDIGENOUS PARTICIPATION IN A HEREDITARY CANCER GENOMIC VARIANT COMMONS

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.

ADVANCING COMMONS THEORY FOR GENOMIC RESOURCES

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.

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