Chapter 25 – Legal Issues

Patents on human gene sequences and relationships between gene variants and clinical phenotypes are controversial in clinical diagnostics. Proponents of gene patents claim they promote gene discovery and encourage the production of novel diagnostic tests. Opponents argue that they raise costs, decrease patient access, harm innovation in testing, and are unnecessary to promote gene discovery. The advent of large-scale sequencing has generated concerns that gene patenting will inhibit the implementation of new sequencing technologies. In the two US Supreme Court cases, Mayo v. Prometheus and Association for Molecular Pathology v. Myriad Genetics, the Court held that human DNA sequences and associations between biomarkers and human physiologic behavior represent unpatentable natural laws. These cases appear to have eliminated patent-based monopolization of clinical testing for mutations in human genes and genotype–phenotype relationships, and will help facilitate the introduction of next-generation sequencing into clinical practice. The incorporation of inherited disease testing into medical practice has generated apprehension about possibilities for “genetic discrimination” in employment and insurance. The Genetic Information Nondiscrimination Act (GINA) proscribes genetic discrimination in employment and health insurance. The exclusion of life, disability, and long-term care insurance from these protections has significant implications for reporting large-scale gene sequencing results.