Legal and Ethical Issues Involved in the Application of Molecular Genetics Examination in the Genomic Era / 中国医学伦理学

ABSTRACT

Advances in cell and molecular genetics have contributed to the development of human genetic re-search and personalized medicine. The enhanced capacity of the new DNA sequencing technologies, especially the high-throughput sequencing, is not only reducing the cost of sequencing but is also enabling some new questions. The potential utilization of whole exome sequencing ( WES) and whole genome sequencing ( WGS) is increasing in the research and clinical setting. And there is a potential for the genetic counselors' of recognition and reporting of incidental or secondary findings unrelated to the indication for ordering but of medical value for patient care, which inevitably create prominent legal and ethical issues. In addition, the internet increases the risk of private informa-tion and genetic information disclosure both for research and clinical practice. Moreover, these questions maybe more significant when commercial tests in multiplex genetic profiles are currently being provided to consumerswith-out the physicians' consultation, referred to as direct-to-consumer genetic tests ( DTCgt) . Existing laws, regula-tions and guidelines in China mostlycontrol and standardize technical aspects. Special regulations and rules for ge-netic arrangement and results explaining and interpretation remain needed; besides, the qualification of relevant personnel. The molecular genetic testing-related stakeholders include the providers, professional practitioners, and consumers &subjects, should realize these problems. Governments and professional organizations should produce policies, guidelines, and recommendations for the related stakeholders, such as testing providers andconsultants, to minimize the risks, and maximize the advantages of molecular genetic technologies, thus promote precision medi-cine and personalized therapy and disease prevention.