Taken together, the profound advances in informatics platforms, allowing large and complex data to be moved rapidly, coupled with computational capabilities for gleaning meaningful associations of biological systems, have been transformative.
Policies promoting sharing and dissemination of information have had a similar impact on accelerating the pace of science. Vocabulary standards The Human Genome Project brought with it a key aspect of data standards guiding the vocabularies of genetic information. The requirement to use internationally accepted common data elements for gene nomenclature Inhibitors,research,lifescience,medical and reference sequence information has provided specificity and avoided (to a large degree) confusion about the SRT1720 meaning of scientific data. Structuring digital biology to conform to unified modeling language (UML) has enabled genomic information to be Inhibitors,research,lifescience,medical modeled across all domains of scientific application through genomic standards, which has aided in the translation to clinical application. Standard clinical nomenclature is now being
widely accepted for genomic test information. Health Level 7 (HL7), Online Mendelian Inhibitors,research,lifescience,medical Inheritance in Man (OMIM), Logical Observation Identifiers Names and Codes (LOINC), and Systematized Nomenclature of Medicine (SNOMED) provide widely accepted standards for clinical definitions, including disease and condition terminology, laboratory test information, Inhibitors,research,lifescience,medical and other terms for health care practices. Highly annotated clinical reference repositories for standards have been developed including the National Cancer Institute repository of data elements caDSR (cancer data standards registry and repository). The caDSR is a database and a set of Application Programming Interfaces (APIs) and tools used to create, edit, control, deploy, and find common data elements (CDEs) for metadata consumers and for UML model development.23 Protection of civil rights regarding genetic information On May 21, 2008, the US framework of civil rights was enhanced through the signing into Inhibitors,research,lifescience,medical law of the Genetic
Information Non-discrimination Act of 2008 (GINA).24 This legislation was long sought on behalf of public interest, as the absence of federal regulations to prohibit use of genetic test information in employment decisions and provision of health insurance benefits on the basis of inherited traits was old a deterrent for individuals to participate in research studies. Together with the Health Insurance Portability and Accountability Act provisions (HIPAA), GINA generally prohibits health insurers or health plan administrators from requesting or requiring genetic information of an individual or an individual’s family for decisions regarding coverage, rates, or preexisting conditions. The law also prohibits employers from using genetic information for hiring, firing, or promotion decisions, and for any decision regarding terms of employment.