consent, return of results, incidental findings, cancer, biobanking, genetics, patients
Female breast cancer is the most commonly diagnosed cancer worldwide, with an estimated 2.3 million new cases diagnosed in 2020, and the fifth leading cause of cancer death worldwide1. The age of breast cancer diagnosis in Asian countries is lower than in many countries across the “West”.2 Inherited forms of breast and ovarian cancer with specific mutations in the BRCA1 and BRCA2 genes are more common in individuals diagnosed with breast cancer at a young age.3
Advances in genome sequencing technology that can identify cancer-causing gene mutations have paved a path for precision cancer medicine.4 In parallel, biobanking has become a rapidly evolving field. Biobanking involves collection, processing, storage, active sharing, and reuse of biological specimens and data for research purposes.5 These practices raise ethical questions regarding informed consent, privacy, confidentiality, ownership of samples and data, and policies and regulations.
A genomic researcher in a Southeast Asian country designed a study to identify the spectrum of inherited BRCA1 and BRCA2 gene mutations among breast cancer patients in the country. The researchers also intended to explore social stigma and cultural beliefs associated with cancer that influence help-seeking behaviors.6,7 A trained research assistant obtained informed consent from all participants diagnosed with breast cancer who formally registered with the medical institution after distributing a written information sheet about the study; the participants in the group had different socio-ethnic–demographic backgrounds. Researchers planned to draw 20 milliliters of blood (a bit more than 1 tablespoon) from each participant and store the samples for at least 20 years for research purposes only.
The institutional review board that oversaw the study had indicated that any clinically important information found during the study, such as a pathogenic variant in the BRCA1/2 gene, must be shared with the participant or family members if return of information had been agreed to beforehand during the consent process. Those who agreed to have results returned would then be advised to repeat the test using a diagnostic laboratory and undertake appropriate cancer risk-reducing steps.
The research team extracted DNA from the collected blood samples. Genetic analyses to identify gene mutations included whole genome sequencing as well as panel gene testing, using guidelines from the American College of Medical Genetics. The lead researcher subsequently collaborated with another researcher from a different Asian country to obtain funding to study inherited mutations in a different gene (TP53), which is also linked to breast cancer risk, using the same samples from the BRCA1/BRCA2 study.
Questions
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What approach to consent—specific, tiered/checklist, broad or blanket—would you advocate that the researcher use for the BRCA1/2 study? Why?
For a review of common consent approaches, please see: Grady, Christine, Lisa Eckstein, Ben Berkman, Dan Brock, Robert Cook-Deegan, Stephanie M. Fullerton, Hank Greely, et al. “Broad Consent for Research with Biological Samples: Workshop Conclusions.” The American Journal of Bioethics 15, no. 9 (August 25, 2015): 34–42. https://doi.org/10.1080/15265161.2015.1062162.
Should the researcher in this case have obtained additional written consent to use the same samples for the different study involving analyses of the TP53 gene? Why or why not?
Should research participants have a legal and moral right to receive raw data about their genome? Why or why not? Will this have any effect on research use of the data?
Who owns the cancer genomic data—the research team, funding agency, institution, or participants?
What, if any, ethical concerns do you have for research that entails sharing biospecimens or data between countries? What might help to address those concerns?
