Analytical validity "refers to how well the test predicts the presence or absence of a particular gene or genetic change. In other words, can the test accurately detect whether a specific genetic variant is present or absent?" ("How Can Consumers Be Sure a Genetic Test is Valid and Useful?" Genetics Home Reference, US National Library of Medicine. Accessed April 18, 2018).
"A facility that collects, catalogs, and stores samples of biological material, such as urine, blood, tissue, cells, DNA, RNA, and protein, from humans, animals, or plants for laboratory research. If the samples are from people, medical information may also be stored along with a written consent to use the samples in laboratory studies." (NCI Dictionary of Cancer Terms, National Cancer Institute. Accessed April 18, 2018).
The LawSeqSM database collects reported judicial decisions that were issued in litigated cases.
"The Centers for Disease Control and Prevention (CDC) serves as the national focus for developing and applying disease prevention and control, environmental health, and health promotion and health education activities designed to improve the health of the people of the United States." (Centers for Disease Control and Prevention. Accessed April 13, 2018).
The federal Clinical Laboratory Improvement Amendments. "The Centers for Medicare & Medicaid Services (CMS) regulates all laboratory testing (except research) performed on humans in the US through the CLIA rules." (Centers for Medicare & Medicaid Services. Accessed April 30, 2018).
"A research study in which one or more human subjects are prospectively assigned to one or more interventions (which may include placebo or other control) to evaluate the effects of those interventions on health-related biomedical or behavioral outcomes." ("NIH's Definition of a Clinical Trial." Office of Extramural Research, National Institutes of Health. Accessed May 10, 2018).
"Clinical validity refers to how well a genetic variant being analyzed is related to the presence, absence, or risk of a specific disease. Clinical utility refers to whether a test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to a consumer." ("How Can I Be Sure a Genetic Test is Valid and Useful?" Genetics Home Reference, US National Library of Medicine. Accessed April 27, 2022).
The Centers for Medicare & Medicaid Services "is the federal agency that runs the Medicare program. In addition, CMS works with the States to run the Medicaid program. CMS works to make sure that the beneficiaries in these programs are able to get high quality health care." (Glossary, Centers for Medicare & Medicaid Services. Accessed May 7, 2018).
The "Common Rule" refers to the section of HHS regulations governing research with human participants that is followed by multiple federal agencies. ("Federal Policy for the Protection of Human Subjects ('Common Rule')," Office for Human Research Protections, US Department of Health & Human Services. Accessed June 13, 2018).
Researchers who work with human participants are required to maintain confidentiality, which means that "with limited exceptions, researchers may not disclose names or any information, documents or biospecimens containing identifiable, sensitive information. . . . [This refers to] information about an individual, gathered or used during the course of biomedical, behavioral, clinical or other research, through which the individual is identified, or there is at least a very small risk that some combination of the information, a request for the information, and other available data sources could be used to determine the identity of an individual. . . . Identifiable, sensitive information includes but is not limited to name, address, social security or other identifying number; and fingerprints, voiceprints, photographs, genetic information, tissue samples, or data fields that when used in combination with other information may lead to identification of an individual." ("General Information on Certificates." Certificates of Confidentiality Kiosk, National Institutes of Health. Accessed May 7, 2018).
"An agreement between private parties creating mutual obligations enforceable by law. The basic elements required for the agreement to be a legally enforceable contract are: mutual assent, expressed by a valid offer and acceptance; adequate consideration; capacity; and legality." (Legal Information Institute, Cornell Law School. Accessed May 7, 2018).
"The process of de-identification, by which identifiers are removed from health information, mitigates privacy risks to individuals and thereby supports the secondary use of data for comparative effectiveness studies, policy assessment, life sciences research, and other endeavors." A partial list of the types of identifying information that must be removed include names; geographic subdivisions smaller than a state, including street address, city, county, precinct, ZIP code, and their equivalent geocodes; all elements of dates (except year) for dates that are directly related to an individual, including birth date, admission date, discharge date, death date; telephone numbers; vehicle identifiers and serial numbers, including license plate numbers; fax numbers; device identifiers and serial numbers; email addresses; web Universal Resource Locators (URLs); Internet Protocol (IP) addresses; Social Security numbers; medical record numbers; biometric identifiers, including finger and voice prints; health plan beneficiary numbers; full-face photographs and any comparable images; account numbers; and certificate/license numbers. ("De-identification and its Rationale" and "The De-Identification Standard" from Guidance Regarding Methods for De-identification of Protected Health Information in Accordance with the Health Insurance Portability and Accountability (HIPAA) Privacy Rule, Health Information Privacy, US Department of Health and Human Services. Accessed May 7, 2018). "Re-identification is the process by which anonymized personal data is matched with its true owner." ("Re-identification – Background." Electronic Privacy Information Center – EPIC. Accessed May 7, 2018).
"Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process." ("What is Direct-to-consumer Genetic Testing?" Genetics Home Reference, US National Library of Medicine. Accessed April 18, 2018).
"The term 'duty to recontact' refers to the possible ethical and/or legal obligation of genetics service providers to recontact former patients about advances in research that might be relevant to them." (JL Fitzpatrick et al. The Duty to Recontact: Attitudes of Genetics Service Providers. The American Journal of Human Genetics 1999;64(3):852-860).
The duty to warn calls for a clinician or reseacher to "warn those known to be at risk of avoidable harm from a genetically transmissable condition." Privilege to warn refers to the conditions under which doctors can disregard traditional standards of confidentiality; it's "a discretionary right to act in a manner that would otherwise give rise to legal liability." Because family members share DNA, if a relative doesn't reveal relevant genetic information to family members, disclosure is "justified if the information reveals that [a] relative is at a substantially higher risk of suffering from a serious and otherwise undetected genetic disorder and if treatment or prevention is available." (American Society of Human Genetics. Professional Disclosure of Familial Genetic Information. American Journal of Human Genetics 1998;62:474–483).
"An Electronic Health Record (EHR), which is an electronic version of a patient's medical history that is maintained by the provider over time, and may include all of the key administrative clinical data relevant to that persons care under a particular provider, including demographics, progress notes, problems, medications, vital signs, past medical history, immunizations, laboratory data and radiology reports." Sometimes called an Electronic Medical Record (EMR). (Centers for Medicare & Medicaid Services. Accessed May 7, 2018).
"The National Human Genome Research Institute's (NHGRI) Ethical, Legal and Social Implications (ELSI) Research Program was established in 1990 as an integral part of the Human Genome Project to foster basic and applied research on the ethical, legal and social implications of genetic and genomic research for individuals, families and communities." (ELSI Research Program." National Human Genome Research Institute. Accessed April 26, 2018).
Empirical research "is a way of gaining knowledge by means of direct and indirect observation or experience. Empirical evidence (the record of one’s direct observations or experiences) can be analyzed quantitatively or qualitatively. Through quantifying the evidence or making sense of it in qualitative form, a researcher can answer empirical questions, which should be clearly defined and answerable with the evidence collected (usually called data)." ("Empirical Research: Definition and Steps of the Empirical Cycle," Webscholar. Accessed May 7, 2018).
Discrimination is defined as "different treatment for similarly situated parties, especially when no legitimate reason appears to exist (Legal Information Institute, Cornell Law School. Accessed May 2, 2018). "Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder." ("What is Genetic Discrimination?" Genetics Home Reference, US National Library of Medicine. Accessed May 2, 2018).
"An executive order is a signed, written, and published directive from the President of the United States that manages operations of the federal government. . . . Executive orders are not legislation; they require no approval from Congress, and Congress cannot simply overturn them. Congress may pass legislation that might make it difficult, or even impossible, to carry out the order, such as removing funding. Only a sitting U.S. President may overturn an existing executive order by issuing another executive order to that effect." (American Bar Association. What is an Executive Order? Accessed April 27, 2022.)
"The Food & Drug Administration is responsible for protecting the public health by ensuring the safety, efficacy, and security of human and veterinary drugs, biological products, and medical devices; and by ensuring the safety of our nation's food supply, cosmetics, and products that emit radiation." ("What We Do." US Food & Drug Administration. Accessed May 8, 2018).
"Framework means determining when the law and rules of research should apply versus the law and rules of clinical care, and whether innovation beyond this conventional dichotomy is needed, to address the translational process as genomic sequencing moves from research to clinical use." The LawSeqSM Framework Task Force has also considered the law and rules of public health genomics and direct-to-consumer (DTC) genomics. (LawSeqSM Methodology. Accessed May 8, 2018).
The Federal Trade Commission is "the only federal agency with both consumer protection and competition jurisdiction in broad sectors of the economy. The FTC pursues vigorous and effective law enforcement; advances consumers’ interests by sharing its expertise with federal and state legislatures and U.S. and international government agencies; develops policy and research tools through hearings, workshops, and conferences; and creates practical and plain-language educational programs for consumers and businesses in a global marketplace with constantly changing technologies." ("About the FTC." Federal Trade Commission. Accessed May 8, 2018).
"Genetic counselors have advanced training in medical genetics and counseling to interpret genetic test results, and to guide and support patients seeking more information about such things as how inherited diseases and conditions might affect them or their families; how family and medical histories may impact the chance of disease occurrence or recurrence; which genetic tests may or may not be right for them, and what those tests may or may not tell; and how to make the most informed choices about healthcare conditions." ("Who are Genetic Counselors?" National Society of Genetic Counselors. Accessed May 8, 2018).
The National Institutes of Health's genetic data sharing policy "sets forth expectations that ensure the broad and responsible sharing of genomic research data. Sharing research data . . . is essential to facilitate the translation of research results into knowledge, products, and procedures that improve human health." ("Genomic Data Sharing Policy." National Institutes of Health. Accessed May 8, 2018).
"An alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation." (NCI Dictionary of Cancer Terms, National Cancer Institute. Accessed June 19, 2018).
The study of heredity; refers to the functioning of a single gene.
"When a clinician orders a genetic test to discover the genetic cause of a particular condition, the test will often sequence one or a few genes that seem most likely to be associated with that individual’s set of signs and symptoms. However, if the individual’s signs and symptoms do not have an obvious genetic cause, a clinician might order a test that sequences all of the pieces of an individual's DNA that provide instructions for making proteins (called an exome) or a test that sequences all of an individual’s DNA building blocks (nucleotides), called a genome. These tests are called whole exome sequencing and whole genome sequencing, respectively." ("What are Secondary Findings from Genetic Testing?" Genetics Home Reference, US National Library of Medicine. Accessed May 7, 2018).
Large, publicly available data sets funded by the NIH to ease data sharing and ensure transparency for scientists studying genomics. ("Human Genome Resources at NCBI." US National Library of Medicine, National Center for Biotechnology Information. Accessed May 8, 2018).
The study of genes and their functions, interrelationships, and combined influence, including the study of an entire exome or genome.
"The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health. The law prevents discrimination from health insurers and employers." ("Genetic Information Nondiscrimination Act of 2008." National Human Genome Research Institute. Accessed May 9, 2018).
The US Department of Health & Human Services "has 11 operating divisions, including eight agencies in the US Public Health Service and three human services agencies. These divisions administer a wide variety of health and human services and conduct life-saving research for the nation, protecting and serving all Americans." They include the Centers for Disease Control and Prevention (CDC), the Centers for Medicare & Medicaid Services (CMS), and the National Institutes of Health (NIH). (US Department of Health & Human Services. Accessed May 7, 2018).
The Health Insurance Portability and Accountability Act of 1996 is federal legislation that provides data privacy and security provisions for safeguarding information. HIPAA regulations are promulgated by the Office for Civil Rights (OCR) in the US Department of Health and Human Services (HHS). ("About HIPAA" Indiana University Knowledge Base. Accessed May 9, 2018).
"The HIPAA Privacy Rule. . . introduced standards covering allowable uses and disclosures of health information, including to whom information can be disclosed and under what circumstances protected health information can be shared. The HIPAA Privacy Rule permits the sharing of health information by healthcare providers, health plans, healthcare clearinghouses, business associates of HIPAA-covered entities, and other entities covered by HIPAA Rules under certain circumstances. In general terms, permitted uses and disclosures are for treatment, payment, or health care operations. HIPAA authorization is consent obtained from a patient or health plan member that permits a covered entity or business associate to use or disclose private health information to an individual/entity for a purpose that would otherwise not be permitted by the HIPAA Privacy Rule. Without HIPAA authorization, such a use or disclosure . . . would violate HIPAA Rules and could attract a severe financial penalty and may even be determined to be a criminal act." ("What is a HIPAA Authorization?" HIPAA Journal. Accessed May 9, 2018).
The Health Information Technology for Economic and Clinical Health (HITECH) Act was enacted as part of the American Recovery and Reinvestment Act of 2009. It was intended to promote the adoption and meaningful use of health information technology." HITECH contains specific incentives designed to accelerate the adoption of electronic health record (EHR) systems among providers. It also widens the scope of privacy and security protections available under HIPAA, increases the potential legal liability for non-compliance, and it provides for more enforcement. ("HITECH Act Enforcement Interim Final Rule." US Department of Health & Human Services. Accessed May 8, 2018).
An incidental finding is "a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of research but is beyond the aims of the study." (SM Wolf, et al. Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations. Journal of Law, Medicine & Ethics 2008;36(2):219-248. "A secondary finding. . . is an additional result actively sought by the practitioner." ("Anticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Directto-Consumer Contexts." Presidential Commission for the Study of Bioethical Issues, Bioethics Commission. Accessed May 8, 2018). Incidental findings are sometimes call "additional" or "ancillary" findings. See also Return of Results.