Consumer-facing genetic testing in China: a status report

Abstract

BackgroundDirect to consumer (DTC) genetic testing has become a popular method to determine risk factors for illnesses. Testing promotes health literacy, highlights high-risk behaviour, and motivates consumers to be proactive. Lower costs and greater access to tests has spawned hundreds of companies, each employing various genetic testing and analysis methods. Without clear guidance from the Chinese Food and Drug Administration, companies have employed approaches that could present risks to clients. We aimed to investigate the scientific rigor and opportunities for improvement of Chinese DTC testing. MethodsOne author (TO) sent a saliva specimen to five leading DTC testing providers in China. On the basis of each provider's reports, we reconstructed disease and trait models, and compared the validity of the models with public disease datasets and user-reported results for genetic-related traits. We compared risk number results, scientific evidence quality, and reconstructed disease risk computation for breast cancer, type 2 diabetes, and Alzheimer's disease. A sample set of raw genetic data and user-provided personal lifestyle and trait survey was provided to us by a DTC genetic testing company. We used the WTCCC diabetes dataset as the cross-reference data for the risk models. FindingsThe providers' key technical shortcomings included unsuitable variant choices, questionable disease models, and inappropriate selection of testing platform. The communication of test results to consumers was misleading at times. Four issues were evident: misrepresentation of incomplete variant coverage, over-representation of risk, misrepresentation of positive disease screening, and inadequate informed consent. InterpretationDTC genetic testing is touted as having the capacity to determine one's hidden artistic or mathematical talents, as well as risk of illnesses such as lung cancer. Despite shortcomings found in our study, DTC testing could help motivate consumers to adopt well-documented health strategies regarding diet, exercise, and smoking. Our primary recommendation includes promotion of a certification programme for clinical genetics counsellors and developing a unified standard for result quality, much like the clinical annotation categories found in the Pharmacogenomics Knowledgebase (PharmaGKB). Enforcement of regulations that prevents discrimination based on testing, assures data confidentiality, and implement industry-wide certification standards will incentivise more rigorous development and delivery of test results. FundingNone