||3U01CA242954-02S1 Interpret this number
||University Of California Santa Cruz
||Federated Analysis in Cancer Genomics: Surveying the Social, Ethical, and Regulatory Landscape
Genetic testing is saving lives by allowing patients to better understand and manage their heritable risk
for cancer and other disorders. However, its effectiveness is limited by the large number of Variants of
Uncertain Significance (VUS), or variants that lack sufficient evidence for robust clinical interpretation.
Interpretation of cancer variants typically requires analysis of highly sensitive case-level patient data, yet this
data is often inaccessible. Furthermore, due to a lack of equitable representation in genetic data sets, health
disparities can present via disproportionately high VUS rates amongst underserved patient populations. Issues
of inaccessible data, when compounded with the unique struggles of underserved groups, have thus created
significant barriers to advancing genetic testing as an effective and equitable tool for cancer prevention.
Federated analysis using container methods has been recognized as a feasible solution for issues of
patient data access. Container methods “bring the code to the data” to analyze information locally. This
analysis generates useful, de-identified summary statistics that can be shared to support clinical variant
interpretation without exposing or transferring sensitive patient-level data. However, preliminary exploration of
these methods have revealed more issues beyond patient privacy: concerns such as data governance,
ownership, rights of access, regulatory policies, and economic incentive require further study. Certain topics
can also be particularly salient amongst groups that are historically underserved. If left unexamined, these
issues could interfere with the ethical, effective, and equitable implementation of container methods.
Developing and designing federated analysis with container methods poses a unique opportunity to
perform a case study of contentious topics in patient data access while testing the pragmatic feasibility of such
methods. In order to survey the social, ethical, and regulatory landscape of container methods, this study will
perform qualitative research with specified organizations. Specifically, existing protocols within healthcare
institutions will be explored through semi-structured interviews with key informants from the organization.
Interviews and surveys will also be performed to explore the attitudes and concerns of advocacy groups and
patient populations. The study will be inclusive of at least one historically underserved group who may have
uniquely contentious relationships to both health systems and data sharing initiatives. Research outcomes will
include qualitative data that characterizes the explicit barriers to using container methods, as well as
preliminary guidelines that can be used by various parties to advance data sharing efforts. Finally, these
findings will also offer a detailed case study of how container methods, in general, might provide unique
solutions to problems posed by highly sensitive, yet scientifically valuable, patient data.
None. See parent grant details.