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Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
Medical privacy, or health privacy, is the practice of maintaining the security and confidentiality of patient records. It involves both the conversational discretion of health care providers and the security of medical records. The terms can also refer to the physical privacy of patients from other patients and providers while in a medical facility, and to modesty in medical settings. Modern concerns include the degree of disclosure to insurance companies, employers, and other third parties. The advent of electronic medical records (EMR) and patient care management systems (PCMS) have raised new concerns about privacy, balanced with efforts to reduce duplication of services and medical errors.
Pharmacogenomics is the study of the role of the genome in drug response. Its name reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response in patients by correlating DNA mutations with pharmacokinetic, pharmacodynamic, and/or immunogenic endpoints.
deCODE genetics is a biopharmaceutical company based in Reykjavík, Iceland. The company was founded in 1996 by Kári Stefánsson with the aim of using population genetics studies to identify variations in the human genome associated with common diseases, and to apply these discoveries "to develop novel methods to identify, treat and prevent diseases."
In public health, contact tracing is the process of identifying persons who may have been exposed to an infected person ("contacts") and subsequent collection of further data to assess transmission. By tracing the contacts of infected individuals, testing them for infection, and isolating or treating the infected, this public health tool aims to reduce infections in the population. In addition to infection control, contact tracing serves as a means to identify high-risk and medically vulnerable populations who might be exposed to infection and facilitate appropriate medical care. In doing so, public health officials utilize contact tracing to conduct disease surveillance and prevent outbreaks. In cases of diseases of uncertain infectious potential, contact tracing is also sometimes performed to learn about disease characteristics, including infectiousness. Contact tracing is not always the most efficient method of addressing infectious disease. In areas of high disease prevalence, screening or focused testing may be more cost-effective.
Personalized medicine, also referred to as precision medicine, is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease. The terms personalized medicine, precision medicine, stratified medicine and P4 medicine are used interchangeably to describe this concept though some authors and organisations use these expressions separately to indicate particular nuances.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
HIV exceptionalism is the term given to the trend to treat HIV/AIDS in law and policy differently from other diseases, including other sexually transmitted, infectious, lethal diseases. The term first appeared in print in an article in the New England Journal of Medicine in 1991.
Predictive medicine is a field of medicine that entails predicting the probability of disease and instituting preventive measures in order to either prevent the disease altogether or significantly decrease its impact upon the patient.
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.
23andMe Holding Co. is a publicly held personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism genotyping, to generate reports relating to the customer's ancestry and genetic predispositions to health-related topics. The company's name is derived from the 23 pairs of chromosomes in a wild-type human cell.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
The HIV Prevention Act of 1997 was proposed U.S. legislation that was not acted on by either house of Congress.
Genomic counseling is the process by which a person gets informed about his or her genome often in the setting of elective genetic and genomic testing. In contrast to genetic counseling, which focuses on Mendelian diseases and typically involves person-to-person communication with a genetic counselor or other medical genetics expert, genomic counseling is not limited to currently clinically relevant information. It is often based on genomic information that is of interest for the informed person, such as increased risk for common complex disease that has actionable components, genetically determined non-disease related traits, or recreational forms of information and genetic genealogy data. An individuals response to certain medications/drugs based on their pharmacogenomic profile may be provided.
Genetic testing is the analysis of human genes, proteins, and certain metabolites, in order to detect inherited disease-related propensities. These tests can predict the risk of disease in adults, as well as establish prenatal and infant prognoses. The benefits can be substantial, but so can the risks. The possible adverse consequences of genetic tests include discrimination in employment and health insurance and breaches of privacy. Government policies are therefore needed to assure the proper use of genetic tests. The first piece of federal legislation came into effect in 2000.
Infectious diseases within American correctional settings are a concern within the public health sector. The corrections population is susceptible to infectious diseases through exposure to blood and other bodily fluids, drug injection, poor health care, prison overcrowding, demographics, security issues, lack of community support for rehabilitation programs, and high-risk behaviors. The spread of infectious diseases, such as HIV and other sexually transmitted diseases, hepatitis C (HCV), hepatitis B (HBV), and tuberculosis, result largely from needle-sharing, drug use, and consensual and non-consensual sex among prisoners. HIV and hepatitis C need specific attention because of the specific public health concerns and issues they raise.
Genetic privacy involves the concept of personal privacy concerning the storing, repurposing, provision to third parties, and displaying of information pertaining to one's genetic information. This concept also encompasses privacy regarding the ability to identify specific individuals by their genetic sequence, and the potential to gain information on specific characteristics about that person via portions of their genetic information, such as their propensity for specific diseases or their immediate or distant ancestry.
Privacy in education refers to the broad area of ideologies, practices, and legislation that involve the privacy rights of individuals in the education system. Concepts that are commonly associated with privacy in education include the expectation of privacy, the Family Educational Rights and Privacy Act (FERPA), the Fourth Amendment, and the Health Insurance Portability and Accountability Act of 1996 (HIPAA). Most privacy in education concerns relate to the protection of student data and the privacy of medical records. Many scholars are engaging in an academic discussion that covers the scope of students’ privacy rights, from student in K-12 and even higher education, and the management of student data in an age of rapid access and dissemination of information.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
DNA encryption is the process of hiding or perplexing genetic information by a computational method in order to improve genetic privacy in DNA sequencing processes. The human genome is complex and long, but it is very possible to interpret important, and identifying, information from smaller variabilities, rather than reading the entire genome. A whole human genome is a string of 3.2 billion base paired nucleotides, the building blocks of life, but between individuals the genetic variation differs only by 0.5%, an important 0.5% that accounts for all of human diversity, the pathology of different diseases, and ancestral story. Emerging strategies incorporate different methods, such as randomization algorithms and cryptographic approaches, to de-identify the genetic sequence from the individual, and fundamentally, isolate only the necessary information while protecting the rest of the genome from unnecessary inquiry. The priority now is to ascertain which methods are robust, and how policy should ensure the ongoing protection of genetic privacy.
References
- ↑ Ray, Turna. 18 August 2010. UC Berkeley Halts Genetic Testing Program, but Touts Opportunity for Ethical Debate Pharmacogenomics Reporter.
- ↑ Evans, James P; Burke, Wylie (July 2008). "Genetic exceptionalism. Too much of a good thing?". Genetics in Medicine. 10 (7): 500–501. doi: 10.1097/gim.0b013e31817f280a . ISSN 1098-3600. PMID 18580684. S2CID 32998031.