"Before a person has a genetic test, it is important that he or she fully understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission to carry out testing is called informed consent. 'Informed' means that the person has enough information to make an educated decision about testing; 'consent' refers to a person's voluntary agreement to have the test done." ("What is Informed Consent?" Genetics Home Reference, US National Library of Medicine. Accessed April 18, 2018).
"One challenge insurers face is the difficulty of deciding when to reimburse for genetic tests that health care providers have offered their patients. The reason this is difficult is that insurers may not be able to easily evaluate what type of genetic test was performed, whether the test was appropriate to perform and whether the test is scientifically valid. . . . NHGRI hopes to serve as a resource for advancing genomic medicine by assisting all types of payers in their efforts to evaluate emerging genetic tests for reimbursement, and by promoting research into the health benefit and cost-effectiveness of genetic testing." ("Coverage and Reimbursement of Genetic Tests." National Human Genome Research Institute. Accessed April 18, 2018).
An Institutional Review Board. IRBs are "formally designated to review and monitor biomedical research involving human subjects. In accordance with FDA regulations, an IRB typically has the authority to approve, require modifications in (to secure approval), or disapprove research. This group review serves an important role in the protection of the rights and welfare of human research subjects." The Common Rule established requirements for IRB membership, authority, review procedures, records and criteria for approval. ("Institutional Review Boards Frequently Asked Questions - Information Sheet." US Food and Drug Administration. Accessed April 18, 2018). See also Common Rule.
"Congress passed the Clinical Laboratory Improvement Amendments (CLIA) in 1988 establishing quality standards for all laboratories testing to ensure the accuracy, reliability, and timeliness of patient test results, regardless of where the test was performed. The CLIA regulations are based on the complexity of the test method; thus, the more complicated the test, the more stringent the requirements." The standards are focused on four areas: the qualifications of the lab director; physical facilities and safety; quality control and performance improvement; and inspection. ("Clinical Laboratories." Centers for Medicare & Medicaid Services. Accessed May 9, 2018). See also CLIA.
"A legally enforceable claim on the assets of a business or property of an individual. In business, liability results from a breach of duty or obligation by act or failure to act." (Legal Information Institute. Cornell Law School. Accessed May 9, 2018). For the purposes of the LawSeqSM project, liability "includes tort and contract exposure of clinicians, laboratory personnel, and their institutions and describes the standard of care while protecting innovation in sequencing. Liability also applies to return of results and incidental findings, including duty to hunt, duty to return, and duty to warn." (LawSeqSM Methodology. Accessed May 9, 2018).
"Medical malpractice occurs when a hospital, doctor or other health care professional, through a negligent act or omission, causes an injury to a patient. The negligence might be the result of errors in diagnosis, treatment, aftercare or health management." ("What is Medical Malpractice?" American Board of Professional Liability Attorneys. Accessed May 9, 2018)
The National Cancer Institute is "the federal government's principal agency for cancer research and training. . . . [It] is part of the National Institutes of Health (NIH), one of 11 agencies that make up the Department of Health and Human Services (HHS)." (National Cancer Institute. Accessed May 9, 2018).
"A failure to behave with the level of care that someone of ordinary prudence would have exercised under the same circumstances. The behavior usually consists of actions, but can also consist of omissions when there is some duty to act." (Legal Information Institute. Cornell Law School. Accessed May 9, 2018)
A public health screening process for newborns to identify "conditions that can affect a child’s long-term health or survival. . . . Each year, millions of babies in the US are routinely screened, using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders, and are also tested for hearing loss and critical congenital heart defects prior to discharge from a hospital or birthing center." (Centers for Disease Control and Prevention. Accessed May 9, 2018)
The National Human Genome Research Institute is part of the National Institutes for Health. It "was established in 1989 to carry out the role of the NIH in the International Human Genome Project (HGP), and now conducts and funds genetic and genomic research." (National Human Genome Research Institute. Accessed May 9, 2018)
"The National Institutes of Health, which is made up of 27 different institutes and centers, including the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI)." (National Institutes of Health. Accessed May 9, 2018)
"The US Department of Health and Human Services (HHS) Office for Civil Rights (OCR) enforces federal civil rights laws, conscience and religious freedom laws, the Health Insurance Portability and Accountability Act (HIPAA) Privacy, Security, and Breach Notification Rules, and the Patient Safety Act and Rule, which together protect your fundamental rights of nondiscrimination, conscience, religious freedom, and health information privacy." ("About Us." Office for Civil Rights. Accessed May 9, 2018).
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.)
"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 Institute. Accessed May 9, 2018)
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 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, 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).
"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.
For the purposes of the LawSeqSM project, quality refers to the law related to the quality and validity of genomic sequencing results and interpretation, including evolving Clinical Laboratory Improvement Amendments (CLIA) and Food and Drug Administration (FDA) regulation plus state statutes that, along with laboratory accreditation and professional society standards, address analytic validity, clinical validity and utility, and overall quality. (LawSeqSM Methodology. Accessed May 9, 2018)
“Regulatory agencies are government agencies whose primary functions are to police and enforce laws that control various activities from racial discrimination to environmental pollution. These agencies differ from agencies with a primarily administrative functions, such as managing billions of dollars of federal grants, contracts, and other programs.” (Center for Effective Government. Accessed April 27, 2022). "Regulation is broadly defined as the imposition of rules, . . backed by the use of penalties that are intended specifically to modify the economic behaviour of individuals and firms." (Organisation for Economic Co-operation and Development – OECD. Accessed May 10, 2018).
"Research, as it pertains to protections for human subjects in research. . . [is] a systematic investigation designed to develop or contribute to generalizable knowledge." (45 C.F.R. §46.102(l)., National Institutes of Health. Accessed April 37, 2022).
Research with human participants refers to research involving “a living individual about whom an investigator…conducting research [o]btains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or [o]btains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens." ("Definition of Human Subjects Research." National Institutes of Health. Accessed April 27, 2022).
"The conventional view has been that there are fundamental differences between research and clinical care. . . . Research has been defined by the Common Rule as 'a systematic investigation . . . designed to develop or contribute to generalizable knowledge.' . . . In clinical care, on the other hand, clinicians bear a fiduciary duty to act primarily for the benefit of the patient in keeping with established standards of professionalism and ethics." The interface between research and clinical care is currently evolving. (SM Wolf et al. Navigating the Research–Clinical Interface in Genomic Medicine: Analysis from the CSER Consortium. Genetics in Medicine 2017;20:545–553).
In research, the process of alerting a participant to "a finding concerning an individual research participant that has potential health or reproductive importance or personal utility and is discovered in the course of research." Sometimes includes return of incidental or secondary findings. (SM Wolf. Return of Individual Research Results & Incidental Findings. Annual Review of Genomics and Human Genetics 2013;14:557-577).
"An individual’s genetic code contains millions of differences when compared to the human reference sequence. These differences, referred to . . . as variants, are also sometimes called mutations. Genetic variants may be benign and have no impact or may be pathogenic and causative of disease." ("Introduction and Overview to Genomic Test Reports." Clinical Sequencing Exploratory Research – CSER. Accessed May 7, 2018).
"Statutes are laws enacted by legislatures, such as the US Congress. . . . Subject only to constitutional control, they authorize promulgation of administrative regulations and can overturn or modify court decisions that themselves are sometimes concerned with statutory interpretation. In the US, both the federal government and individual states have the power to pass statutes or laws. Some laws are handled exclusively by the federal government or Congress, while others are handled exclusively by the states. Still other laws are the subject of both state and federal governance." ("Statutes: US and State Codes." Harvard Law School Library. Accessed May 10, 2018).
“A tort is an act or omission that gives rise to injury or harm to another and amounts to a civil wrong for which courts impose liability. In the context of torts, ‘injury’ describes the invasion of any legal right, whereas ‘harm’ describes a loss or detriment in fact that an individual suffers.” (Cornell Law School, Legal Information Institute. Accessed April 27, 2022.)
"Translation is the process of turning observations in the laboratory, clinic and community into interventions that improve the health of individuals and the public — from diagnostics and therapeutics to medical procedures and behavioral changes. Translational science is the field of investigation focused on understanding the scientific and operational principles underlying each step of the translational process." (National Center for Advancing Translational Sciences, National Institutes of Health. Accessed May 10, 2018).
"A variation in a genetic sequence whose association with disease risk is unknown. Also called unclassified variant, variant of uncertain significance, and variant of unknown significance." (NCI Dictionary of Genetics Terms, National Cancer Institute. Accessed May 3, 2018).
"Wrongful birth claims arise when parents assert that they were under the mistaken impression that their pregnancy was normal, because their physician told them incorrectly that there was no risk to the fetus, because the physician failed to inform them about available tests or known risks, or because tests were performed incorrectly or too late. . . . Suits for wrongful life are brought by or on behalf of a child born with inherited or acquired abnormalities that could have been predicted before conception or detected during the prenatal period. The plaintiff/child may claim that he or she would have been better not to be born at all rather than to be born with defects to endure suffering and pain. Alternatively, the child may claim that his or her damages should be measured by comparing his or her compromised life with the life of a normal child." (EW Clayton, "Medicolegal Aspects of Prenatal Diagnosis," in Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment, 7th ed., Aubrey Milunsky and Jeff M. Milunsky, eds. John Wiley & Sons, 2016).