 | This article has multiple issues. Please help improve it or discuss these issues on the talk page . (Learn how and when to remove these template messages)
|
Brandon Ross Colby is an American medical geneticist in Beverly Hills, California [1] and physician specializing in predictive medicine and genetic testing. He is author of Outsmart Your Genes, a book about genetics published in 2011, and he is the founder and CEO of direct-to-consumer genetic testing service Sequencing. [2]
Colby was born with epidermolysis bullosa simplex (EB), a rare genetic disease that causes heat-sensitivity of the skin, leading to blisters on the hands and feet when skin temperature rises. Because of his condition he had an interest in genetics early in life.
Colby holds a degree in genetics from the University of Michigan, a 2004 Medical Doctorate from Mount Sinai School of Medicine, [1] and a 2007 Master of Business Administration from Stanford University's Graduate School of Business. [3] [4]
Colby founded Existence Genetics in 2005 during his second year at Stanford. [3] The business declared bankruptcy on November 21, 2012. Existence Genetics was a genetic analysis and genetic reporting company that provided the healthcare industry and health & wellness organizations with information about their clients' genes. [5]
Colby was also medical director of Existence Health, a medical practice founded in 2010 and based in Los Angeles that provided predictive medicine services to its patients based upon a person's genes.
Colby founded Sequencing (sequencing.com), which launched in September 2016. It hosts genomic sequencing data for individuals and for researchers, an API through which third parties can interface with the data, and an app store. The app store allows purchase of further genetic data interpretation, such as results for Alzheimer's disease. [6] Genomics Personalized Health provides genomic sequencing, EncrypGen provides secure data transfer with blockchain, and Sequencing hosts genomic data and offers interpretation of results. [7] [8] [9] A patent assigned to sequencing.com was filed in 2014. [10] [11]
In 2022, Sequencing raised five million dollars in a round of venture capital financing. [12] [13] Sequencing has been profiled as a "key company" in ResearchandMarkets.com's whole genome and exome market research reports since 2021. [14] [15]
Colby co-authored "Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene", which appeared in British Journal of Haematology in 2002. In 2010, Penguin Random House published Colby's Outsmart Your Genes ( ISBN 9780399536380), a book about genetic testing and predictive medicine. [16] [17] [18]
In April 2011, Colby appeared on the "How to Outsmart Your Genes" episode of the TV show The Doctors . Existence Genetics performed genetic testing on several of the show's guests and Colby discussed the results. The testing focused on male pattern baldness, sexual compatibility, preconception, and disease predisposition. [19]
Colby has also appeared on ABC's Good Morning America in April, 2010, and the Today Show with Megyn Kelly in 2018. [20]
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total amount of junk DNA.
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.
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."
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 organizations differentiate between these expressions based on particular nuances. P4 is short for "predictive, preventive, personalized and participatory".
23andMe Holding Co. is an American 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 diploid 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.
GeneDx is a genetic testing company that was founded in 2000 by two scientists from the National Institutes of Health (NIH), Sherri Bale and John Compton. They started the company to provide clinical diagnostic services for patients and families with rare and ultra-rare disorders, for which no such commercial testing was available at the time. The company started in the Technology Development Center, a biotech incubator supported by the state of Maryland and Montgomery County, MD. In 2006, BioReference Laboratories acquired GeneDx. Since then, GeneDx has operated as a subsidiary of this parent company under the leadership of Bale and Compton. In October 2016, Benjamin D. Solomon was appointed as managing director.
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding regions. Exome sequencing has proven to be an efficient method of determining the genetic basis of more than two dozen Mendelian or single gene disorders.
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
Knome, Inc. was a human genome interpretation company based in Cambridge, Massachusetts. Launched in 2007, Knome focused on improving quality of life by applying insights gained from the interpretation of human genomes. They helped identify and classify the variants, genes, and gene sets that are likely to govern or underlie a specific disease, tumor, or drug response. Their clients included academic, pharmaceutical and medical researchers. In 2015, it was acquired by Tute Genomics.
Existence Genetics was a genetic analysis and genetic reporting company that was founded in 2005 and declared bankruptcy on November 21, 2012.
Robert C. Green is an American medical geneticist, physician, and public health researcher. He directs the Genomes2People Research Program in translational genomics and health outcomes in the Division of Genetics at Brigham and Women's Hospital and the Broad Institute, and is Director of the Preventive Genomics Clinic at Brigham and Women's Hospital. Research led by Green includes clinical and research aspects of genomic and precision medicine, including the development and disclosure of Alzheimer's disease risk estimates and one of the first prospective studies of direct-to-consumer genetic testing services. He has studied the implementation of medical sequencing in healthy adults, newborns, and active duty military personnel. As of 2020, he is leading the first research collaboration to explore return of genomic results and better understand penetrance in a population-based cohort of underrepresented minorities. He has led the Preventive Genomics Clinic at Brigham and Women's Hospital since its creation in 2019.
Dr Vinod Scaria FRSB, FRSPH is an Indian biologist, medical researcher pioneering in Precision Medicine and Clinical Genomics in India. He is best known for sequencing the first Indian genome. He was also instrumental in the sequencing of The first Sri Lankan Genome, analysis of the first Malaysian Genome sequencing and analysis of the Wild-type strain of Zebrafish and the IndiGen programme on Genomics for Public Health in India.
Tute Genomics is a genomics startup that provides a cloud-based web application for rapid and accurate annotation of human genomic data. Built on the expertise of ANNOVAR, Tute assists researchers in identifying disease genes and biomarkers, and assists clinicians/labs in performing genetic diagnosis. Based in Provo, Utah, Tute was co-founded by Dr. Kai Wang, an Assistant Professor at the University of Southern California (USC); and Dr. Reid J. Robison, a board-certified psychiatrist with fellowship training in both neurodevelopmental genetics and bioinformatics.
A variant of uncertainsignificance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing but whose connection to a human disease has not been established, and "insignificant mutation", referring to a gene variant that has no impact on the health or function of an organism. The term "variant' is favored in clinical practice over "mutation" because it can be used to describe an allele more precisely. When the variant has no impact on health, it is called a "benign variant". When it is associated with a disease, it is called a "pathogenic variant". A "pharmacogenomic variant" has an effect only when an individual takes a particular drug and therefore is neither benign nor pathogenic.
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.
Helix is an American population genomics company.
Personalized genomics is the human genetics-derived study of analyzing and interpreting individualized genetic information by genome sequencing to identify genetic variations compared to the library of known sequences. International genetics communities have spared no effort from the past and have gradually cooperated to prosecute research projects to determine DNA sequences of the human genome using DNA sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify genetic variations. Genome sequencing became more cost-effective over time, and made it applicable in the medical field, allowing scientists to understand which genes are attributed to specific diseases.