Tumor DNA analysis has become the cornerstone for personalized cancer care. Whole-Genome-Sequencing (WGS) is expected to gain a central role in precision oncology, as it can offer a near complete genomic characterization of the tumor in one single test. To identify tumor specific variants relevant for diagnosis and/or therapy, comparing tumor DNA with germline DNA is essential in WGS. It is therefore necessary to sequence both tumor and germline DNA. As WGS comes with vast amounts of genomic data, designing pipelines to filter relevant clinical information is necessary. Hence, it is also a purposeful choice if germline data is analyzed and reported. Approaches adopted by hospitals can range from very restrictive policies to full disclosure of germline variants related to cancer and other hereditary conditions. In this paper, we ethically analyze three approaches in dealing with germline data in WGS tumor diagnostics: (1) masking germline results, (2) reporting germline findings that are detected in the course of the diagnostic and therapeutic purpose, and (3) broadening the scope of the WGS test and include purposeful analysis and reporting of hereditary conditions. Including germline results in the analysis and reporting of WGS tumor diagnostics holds the promise of efficient data utilization and patient-centered care. At the same time, it raises questions about how to ensure respect for patient autonomy and avoiding harm. As currently the use of WGS tumor diagnostics is gaining traction in clinical care, now is the time to offer ethical guidance on how to deal with germline data.
Authors: Noor Giesbertz, Department of Clinical Genetics, Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands; Eline Bunnik, Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, Rotterdam, the Netherlands
