Glossary

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Pharmacogenetics/Pharmacogenomics

Pharmacogenetics is "the study of variability in drug response due to heredity." Pharmacogenomics is "a broader based term that encompasses all genes in the genome that may determine drug response." (M Pirmohamed. Pharmacogenetics and Pharmacogenomics. British Journal of Clinical Pharmacology  2001;52(4):345–347.)

Principal Investigator

"The person(s) in charge of a clinical trial or a scientific research grant. The principal investigator prepares and carries out the clinical trial protocol (plan for the study) or research paid for by the grant. The principal investigator also analyzes the data and reports the results of the trial or grant research. Also called PI." (National Cancer InstituteAccessed May 9, 2018)

Privacy and Access

For the purposes of the LawSeqSM project, these "refer to privacy protections and regulation of data access, including under HIPAA (Health Insurance Portability and Accountability Act) and state law, focusing on privacy safeguards and what results go into the medical record, and rules under CLIA, the HITECH Act (Health Information Technology for Economic and Clinical Health), and other authority on patient access to laboratory reports." (LawSeqSM Methodology. Accessed May 9, 2018).

Product Liability

"Product liability refers to the liability of any or all parties along the chain of manufacture of any product for damage caused by that product." (Legal Information Institute. Cornell Law School. Accessed May 9, 2018)

Professional Society

"Professional, or disciplinary, societies were founded to support the single disciplines for which they are named. . . . The mission of the professional societies is primarily educational and informational. Their influence flows from their continuing and highly visible functions: to publish professional journals, to develop professional excellence, to raise public awareness, and to make awards. Through their work, they help to define and set standards for their professional fields and to promote high standards of quality through awards and other forms of recognition." (Committee on Facilitating Interdisciplinary Research/Committee on Science, Engineering, and Public Policy, National Academies of Sciences, Engineering, and Medicine. "The Role of Professional Societies." Facilitating Interdisciplinary Research. Washington, DC: National Academies Press, 2005. 137). 

Public Health Screening/Public Health Genomics

"Generally refers to the application of a test to all individuals in a defined population. Screening is commonly instituted for the purpose of case finding—identifying a previously unknown or unrecognized condition in apparently healthy or asymptomatic persons and offering presymptomatic treatment to those so identified. Screening is also sometimes done for surveillance purposes: to monitor the incidence or prevalence of a disease in a defined population over time, or to compare the incidence or prevalence among different populations." (MA Stoto et al. Reducing the Odds: Preventing Perinatal Transmission of HIV In The United States. National Center for Biotechnology Information, US National Library of Medicine. Accessed May 9, 2018). Public health genomics consists of "identifying, evaluating, and implementing evidence-based genomics practices to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases." (Centers for Disease Control and Prevention. Accessed May 9, 2018). See also Newborn Screening.