Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
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.
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.
UC San Diego Health is the academic health system of the University of California, San Diego in San Diego, California. It is the only academic health system serving San Diego and has one of only two adult Level I trauma centers in the region. In operation since 1966, it comprises UC San Diego Medical Center in Hillcrest as well as Jacobs Medical Center, Moores Cancer Center, Shiley Eye Institute, Sulpizio Cardiovascular Center, and Koman Family Outpatient Pavilion, all located in La Jolla. It also includes several outpatient sites located throughout San Diego County. The health system works closely with the university's School of Medicine and Skaggs School of Pharmacy to provide training to medical and pharmacy students and advanced clinical care to patients.
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.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
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.
A biobank is a type of biorepository that stores biological samples for use in research. Biobanks have become an important resource in medical research, supporting many types of contemporary research like genomics and personalized medicine.
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.
Eric Jeffrey Topol is an American cardiologist, scientist, and author. He is the founder and director of the Scripps Research Translational Institute, a professor of Molecular Medicine at The Scripps Research Institute, and a senior consultant at the Division of Cardiovascular Diseases at Scripps Clinic in La Jolla, California. He is editor-in-chief of Medscape and theheart.org. He has published three bestseller books on the future of medicine: The Creative Destruction of Medicine (2010), The Patient Will See You Now (2015), and Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again (2019). He was also commissioned by the UK 2018–2019 to lead planning for the National Health Service's future workforce, integrating genomics, digital medicine, and artificial intelligence.
A biorepository is a facility that collects, catalogs, and stores samples of biological material for laboratory research. Biorepositories collect and manage specimens from animals, plants, and other living organisms. Biorepositories store many different types of specimens, including samples of blood, urine, tissue, cells, DNA, RNA, and proteins. If the samples are from people, they may be stored with medical information along with written consent to use the samples in laboratory studies.
CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) is a scientific research institute devoted primarily to biological research. It is a part of Council of Scientific and Industrial Research (CSIR), India.
McDonnell Genome Institute at Washington University in St. Louis, Missouri, is one of three NIH funded large-scale sequencing centers in the United States. Affiliated with Washington University School of Medicine and the Alvin J. Siteman Cancer Center, the McDonnell Genome Institute is creating, testing and implementing new approaches to the study of genomics with the goal of understanding human health and disease, as well as evolution and the biology of other organisms.
Elias I. Traboulsi is a physician in the fields of ophthalmic genetics and pediatric ophthalmology.
Richard Cotton AM was an Australian medical researcher and founder of the Murdoch Institute and the Human Variome Project. Cotton focused on the prevention and treatment of genetic disorders and birth defects.
Color is a population health technology company which provides genetic tests and analysis directly to patients as well as through employers. The product focuses on genes that indicate risk for heart disease, cancer, and that affect medication response.
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.
Charis Eng, M.D., Ph.D., is a Singapore-born physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She is the Chairwoman and founding Director of the Genomic Medicine Institute of the Cleveland Clinic, founding Director and attending clinical cancer geneticist of the institute’s clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.
Medical genetic ethics is a field in which the ethics of medical genetics is evaluated. Like the other field of medicine, medical genetics also face ethical issues.
