Robert C. Green | |
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Born | Richmond, Virginia, U.S. |
Alma mater | Amherst College University of Virginia School of Medicine Emory University |
Scientific career | |
Institutions | Brigham and Women's Hospital Harvard Medical School |
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. [1] 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 (the REVEAL Study) [2] [3] and one of the first prospective studies of direct-to-consumer genetic testing services (the PGen Study). [4] He has studied the implementation of medical sequencing in healthy adults (the MedSeq Project), newborns (the BabySeq Project), [5] [6] [7] and active duty military personnel (the MilSeq Project). [8] 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. [9] He has led the Preventive Genomics Clinic at Brigham and Women's Hospital since its creation in 2019. [10]
Green was born in Richmond, Virginia, and received an undergraduate degree from Amherst College in 1976, [11] and then attended the University of Virginia School of Medicine, [12] and earned a Masters of Public Health in Epidemiology from Emory University School of Public Health. He completed a residency in neurology at Harvard Medical School's Longwood Neurology Program, and research fellowships at Beth Israel Deaconess Medical Center and Boston Children's Hospital. Green is board-certified in neurology and medical genetics. He was previously on the faculty at Emory University School of Medicine and the Boston University School of Medicine. [13]
Green served as Principal Investigator of the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study, [14] which explored the behavioral, and health-related impact of disclosing genetic risk for Alzheimer's disease. The study was a series of multi-site, randomized, controlled clinical trials that provide empirical data to address ethical, social and translational issues in genetic susceptibility testing for common diseases. [15] [16] [17]
Green also co-led (with J. Scott Roberts, Ph.D.) the Impact of Personal Genomics (PGen) Study, one of the first to investigate the characteristics of consumers; the behavioral and health impact; and the translational and social issues associated with personal genomic testing services. [18] He co-led the incidental findings working group for the American College of Medical Genetics and Genomics and was lead author on the controversial recommendations for reporting incidental and secondary findings in clinical exome and genome sequencing. [19] Green also contributed to the design of a variant classification pipeline, [20] and a single page summary for reporting clinically relevant results of whole genome sequencing to physicians. [21] [22]
Green currently leads and co-leads the first NIH funded randomized trials of sequencing in adults (MedSeq Project), newborns (BabySeq Project), and active duty US military personnel (MilSeq Project). With continuous funding from NIH for 26 years, he has published more than 300 papers with an h index of 90. [23]
Green co-chaired the steering committee of both the Clinical Sequencing Exploratory Research program (18 NIH grants, over 300 investigators), [24] and the steering committee of the Newborn Sequencing in Genomic Medicine and Public Health program (4 NIH grants, over 100 investigators). [25] He is a currently a co-investigator on the Boston site within the Electronic Medical Records and Genomics Network (eMERGE). He is Associate Director for Research of Partners HealthCare Personalized Medicine, [26] and is leading the development of protocols for return of genomic results for the All of Us (initiative) Research Program of the United States Precision Medicine Initiative and the Google/Verily Project Baseline Study. [27]
Green directs the Genomes2People Research Program at Brigham Health and is the founding director of the Brigham Preventive Genomics Clinic. [28] He is Associate Director for Research of Partners HealthCare Personalized Medicine and a member of the executive committee for the Partners BioBank. [29] He is a board member of the Council for Responsible Genetics. [30] He was previously co-chair of the steering committee of the NIH Consortium in Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT). [31] Green is a member of the Consortium on Electronic Medical Records and Genomics (eMERGE). [32] He served on the Institute of Medicine Committee on the "Evidence Base for Genetic Testing," and has collaborated on research studies with Illumina (company), 23andMe, Pathway and Google. [33] [34] [35]
Green received the 2014 Coriell Award for Scientific Achievement in Personalized Medicine. [36] BIS Research named Green one of the 25 most influential voices in precision medicine in 2019. [37]
Marco A. Marra is a Distinguished Scientist and Director of Canada's Michael Smith Genome Sciences Centre at the BC Cancer Research Centre and Professor of Medical Genetics at the University of British Columbia (UBC). He also serves as UBC Canada Research Chair in Genome Science for the Canadian Institutes of Health Research and is an inductee in the Canadian Medical Hall of Fame. Marra has been instrumental in bringing genome science to Canada by demonstrating the pivotal role that genomics can play in human health and disease research.
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.
Incidental medical findings are previously undiagnosed medical or psychiatric conditions that are discovered unintentionally and during evaluation for a medical or psychiatric condition. Such findings may occur in a variety of settings, including routine medical care, during biomedical research, during post-mortem autopsy, or during genetic testing.
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.
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.
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 individual's response to certain medications/drugs based on their pharmacogenomic profile may be provided.
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.
The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of fully sequencing an individual's genome (WGS) is roughly one thousand USD. It is also the title of a book by British science writer and founding editor of Nature Genetics, Kevin Davies. By late 2015, the cost to generate a high-quality "draft" whole human genome sequence was just below $1,500.
Translational bioinformatics (TBI) is a field that emerged in the 2010s to study health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes.
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
Personalized medicine involves medical treatments based on the characteristics of individual patients, including their medical history, family history, and genetics. Although personal genetic information is becoming increasingly important in healthcare, there is a lack of sufficient education in medical genetics among physicians and the general public. For example, pharmacogenomics is practiced worldwide by only a limited number of pharmacists, although most pharmacy colleges in the United States now include it in their curriculum. It is also increasingly common for genetic testing to be offered directly to consumers, who subsequently seek out educational materials and bring their results to their doctors. Issues involving genetic testing also invariably lead to ethical and legal concerns, such as the potential for inadvertent effects on family members, increased insurance rates, or increased psychological stress.
Andrew Kasarskis is an American biologist. He is the Chief Data Officer (CDO) at Sema4. He was previously CDO and an Executive Vice President (EVP) at the Mount Sinai Health System in New York City and, before that, vice chair of the Department of Genetics and Genomic Sciences and Co-director of the Icahn Institute for Genomics and Multiscale Biology at the Icahn School of Medicine at Mount Sinai. Kasarskis is known for taking a network-based approach to biology and for directing the first medical school class offering students the opportunity to fully sequence and analyze their own genomes.
David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.
Clinicogenomics, also referred to as clinical genomics, is the study of clinical outcomes with genomic data. Genomic factors have a causal effect on clinical data. Clinicogenomics uses the entire genome of a patient in order to diagnose diseases or adjust medications exclusively for that patient. Whole genome testing can detect more mutations and structural anomalies than targeted gene testing. Furthermore, targeted gene testing can only test for the diseases for which the doctor screens, whereas testing the whole genome screens for all diseases with known markers at once.
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.
Personalized onco-genomics (POG) is the field of oncology and genomics that is focused on using whole genome analysis to make personalized clinical treatment decisions. The program was devised at British Columbia's BC Cancer Agency and is currently being led by Marco Marra and Janessa Laskin. Genome instability has been identified as one of the underlying hallmarks of cancer. The genetic diversity of cancer cells promotes multiple other cancer hallmark functions that help them survive in their microenvironment and eventually metastasise. The pronounced genomic heterogeneity of tumours has led researchers to develop an approach that assesses each individual's cancer to identify targeted therapies that can halt cancer growth. Identification of these "drivers" and corresponding medications used to possibly halt these pathways are important in cancer treatment.
Deborah Ann "Debbie" Nickerson was an American human genomics researcher. She was professor of genome sciences at the University of Washington. Nickerson founded and directed of one of the five clinical sites of the Gregor Consortium and was a major contributor to many genomics projects, including the Human Genome Project and the International HapMap Project.
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.
Precision diagnostics is a branch of precision medicine that involves precisely managing a patient's healthcare model and diagnosing specific diseases based on customized omics data analytics.