Robert Cook‐Deegan
A5027208108- Biomedical Ethics and Regulation
- Ethics in Clinical Research
- Intellectual Property and Patents
- BRCA gene mutations in cancer
- Biotechnology and Related Fields
- CRISPR and Genetic Engineering
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Genetics, Bioinformatics, and Biomedical Research
- Science, Research, and Medicine
- Ethics in medical practice
- Innovation Policy and R&D
- Race, Genetics, and Society
- Health Systems, Economic Evaluations, Quality of Life
- Health and Medical Research Impacts
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Pharmaceutical Economics and Policy
- Cancer Genomics and Diagnostics
- Research Data Management Practices
- Prenatal Screening and Diagnostics
- Environmental DNA in Biodiversity Studies
- Genetic Associations and Epidemiology
- Neuroethics, Human Enhancement, Biomedical Innovations
- Health, Environment, Cognitive Aging
Institute for the Future
2012-2024
Arizona State University
2013-2024
Washington Center
2016-2023
University of Lausanne
2023
SIB Swiss Institute of Bioinformatics
2023
Center for Science in the Public Interest (United States)
2021
Brown University
2021
Drexel University
2021
Broad Institute
2019
Johns Hopkins University
1989-2019
Abstract Here the Human Pangenome Reference Consortium presents a first draft of human pangenome reference. The contains 47 phased, diploid assemblies from cohort genetically diverse individuals 1 . These cover more than 99% expected sequence in each genome and are accurate at structural base pair levels. Based on alignments assemblies, we generate that captures known variants haplotypes reveals new alleles structurally complex loci. We also add 119 million pairs euchromatic polymorphic...
The apolipoprotein E (APOE) genotype provides information on the risk of Alzheimer's disease, but genotyping patients and their family members has been discouraged. We examined effect disclosure in a prospective, randomized, controlled trial.
Different types of consent are used to obtain human biospecimens for future research. This variation has resulted in confusion regarding what research is permitted, inadvertent constraints on research, and proceeding without consent. The National Institutes Health (NIH) Clinical Center's Department Bioethics held a workshop consider the ethical acceptability addressing these concerns by using broad stored biospecimens. Multiple bioethics scholars, who have written issues, discussed reasons...
Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate genomes representing global biodiversity. These provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses population functional genomics, are expected revolutionize conservation genomics.
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 BRCA2 data support highly collaborative research activities. Its goal generate an informed current understanding of impact genetic variation on cancer risk across iconic predisposition genes, BRCA2. Initially, reported variants in available from public databases were integrated into single, newly created site, www.brcaexchange.org. purpose Exchange...
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical genomic data through both harmonized aggregation federated approaches. decreasing cost sequencing (along with other genome-wide molecular assays) increasing evidence its utility will soon drive generation sequence from tens millions humans, levels diversity. In this perspective, we present GA4GH strategies addressing major challenges revolution. We...
Abstract The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats extended segmental duplications 1,2 . Although resolution these regions in first complete assembly a genome—the Telomere-to-Telomere Consortium’s CHM13 (T2T-CHM13)—provided model their homology 3 , it remained unclear whether patterns were ancestral or maintained by ongoing recombination exchange. Here we show that contain...
Abstract Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations mapping short-read sequencing data 1,2 . Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared pattern SNVs between unique duplicated regions 3,4 We find that are elevated 60% to estimate at least 23% this increase is due interlocus gene conversion (IGC) with up 4.3 megabase pairs SD sequence...
Book copyrighted by Robert Cook-Deegan in 1994. This published manuscript has been posted with permission from W.W. Norton & Company.
The field of genomics has benefited greatly from its “openness” approach to data sharing. However, with the increasing volume sequence information being created and stored growing number international efforts, equity openness is under question. United Nations Convention Biodiversity aims develop adopt a standard policy on access benefit-sharing for across signatory parties. This standardization will have profound implications research, requiring new definition open redefinition not...
New genetic tests for adult-onset diseases raise concerns about possible adverse selection in insurance markets. To test this behavior, we followed 148 cognitively normal people participating a randomized clinical trial of testing Alzheimer's disease one year after risk assessment and Apolipoprotein E (APOE) genotype disclosure. Although no significant differences were found health, life, or disability purchases, those who tested positive 5.76 times more likely to have altered their...
Alzheimer disease was transmitted in a pattern consistent with an autosomal dominant trait three families. This brings to 50 the number of such families reported. In one our families, patient had histologically confirmed disease, whereas her sister proved spongiform encephalopathy. Other data suggest link between familial and transmissible dementia. is associated abnormal neurofibrillary structures, Down syndrome, numbers chromosomes lymphocytes (aneuploidy). These observations are disorder...
The US Bayh-Dole Act encourages university patenting of inventions arising from publicly funded research. Lessons three decades experience serve as a cautionary tale for those countries that may choose to emulate Bayh-Dole.
In June 2013, the U.S. Supreme Court unanimously ruled that patents on BRCA1 and BRCA2 held by Myriad were not valid because human genes are products of nature therefore patentable. The authors discuss implications this long-awaited decision.
After two decades of genetic testing and research, the BRCA1 BRCA2 genes are most well-characterized in human genome. As a result, variants uncertain significance (VUS; also called unknown significance) reported less frequently than for that have been thoroughly studied. However, VUS continue to be uncovered, even BRCA1/2. The increasing use multi-gene panels whole-genome whole-exome sequencing will lead higher rates detection because more being tested, genomic loci far intensively...
The cost of whole genome sequencing is dropping rapidly. There has been a great deal enthusiasm about the potential for this technological advance to transform clinical care. Given interest and significant investment in genomics, seems an ideal time consider what evidence tells us benefits harms, particularly context health care policy. scale pace adoption powerful new technology should be driven by need, evidence, commitment put patients at centre