Are privacy-enhancing technologies for genomic data ready for the clinic? A survey of medical experts of the Swiss HIV Cohort Study. Journal of Biomedical Informatics
Raisaro et al. aimed to describe end-users’ perception of genome privacy and their attitude toward the use of sophisticated PETs in an operational clinical setting.
The participating physicians had access to the system for privacy-preserving genetic testing through a Java front-end application installed at each of the participating SHCS hospitals. The application included a graphical user interface enabling physicians to select patients using a unique identifier and the genetic tests to be performed on the patient’s encrypted genotype. The request was then sent to the system back-end deployed at the Data Center in Lausanne. Patients’ genomic data were never decrypted and the encrypted test results were returned to the local front-end for decryption. A standardized text report indicated an increased or decreased risk of the tested trait due to genetic factors, or a result of “no relevant alleles found” was presented to the physician. After using the system, the physicians were asked to answer an electronic survey directly embedded in the front-end application.
Overall, 38 out of 55 (69%) physicians participated in the study. Two thirds of them acknowledged genetic privacy as a key aspect that needs to be protected to help building patient trust and deploy new-generation medical information systems. All of them successfully used the tool for evaluating their patients’ pharmacogenomics risk and 90% were happy with the user experience and the efficiency of the tool. Only 8% of physicians were unsatisfied with the level of information and wanted to have access to the patient’s actual DNA sequence.
In conclusion, this survey represents the first evaluation of privacy-preserving models for genomic-based medicine. In particular, the study-results show that a clinical information system that uses homomorphic encryption to provide clinicians with risk information based on sensitive genetic test results can offer information that clinicians feel sufficient for their needs and appropriately respectful of patients’ privacy. The study presented here derives unique insights that maybe will guide the design and facilitate the adoption of these systems in the future, by better addressing physicians’ requirements.