726 results on '"Cook-Deegan, Robert"'
Search Results
2. Big advocacy, little recognition: the hidden work of Black patients in precision medicine.
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Gerido, Lynette, Resnicow, Kenneth, Stoffel, Elena, Tomlin, Tiah, Cook-Deegan, Robert, Coffin, Amy, Holdren, Jill, Majumder, Mary, He, Zhe, and Cline, Melissa
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African Americans ,Biomedical research ,Breast cancer ,Data ethics ,Genetic testing ,Advocacy - Abstract
As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genomic research, policy, and practice are necessary for effective translation of genomic science into precision population health and medicine. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was disseminated to three cancer advocacy organizations. Of the 81 survey respondents 49 (60%) self-identified as Black, and 26 (32%) indicated a prior breast cancer diagnosis. Black participants expressed concerns about genetic testing were evenly distributed between concerns that could be addressed through genetic counseling (24%) and concerns about subsequent use of their genetic data (27%). Patient advocates contributed to contextualization of respondent concerns in terms of community experiences. Although genetic counseling services and policies governing genomic data use are not always accessible to many Black communities, advocates on our research team provided a bridge to discussion of the intersection between respondent concerns and the roles advocates play in filling gaps in access to genetic counseling and data governance. Concerns expressed by Black patients underscore a shared need among all patients for access to education, inclusion in research, and assurances regarding the use and handling of genetic data. Black cancer patients have joined in patient-led efforts to overcome systemic inequities in cancer care to improve their health outcomes through representation. Often their efforts are overshadowed by a relentless burden of continued health disparities. Future research should support their hidden work as a means to reduce barriers and improve representation in genomic databases.
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- 2023
3. A draft human pangenome reference
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Liao, Wen-Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K, Monlong, Jean, Abel, Haley J, Buonaiuto, Silvia, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M, Feng, Xiaowen, Fischer, Christian, Fulton, Robert S, Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T, Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Markello, Charles, Martin, Fergal J, Mitchell, Matthew W, Munson, Katherine M, Mwaniki, Moses Njagi, Novak, Adam M, Olsen, Hugh E, Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A, Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R, Antonacci-Fulton, Lucinda L, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi-Chuan, Cody, Sarah, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Formenti, Giulio, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Korbel, Jan O, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D, Popejoy, Alice B, Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A, Rhie, Arang, Sacco, Samuel, Sanders, Ashley D, Schneider, Valerie A, Schultz, Baergen I, Shafin, Kishwar, Smith, Michael W, Sofia, Heidi J, Abou Tayoun, Ahmad N, Thibaud-Nissen, Françoise, and Tricomi, Francesca Floriana
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Biological Sciences ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Generic health relevance ,Humans ,Diploidy ,Genome ,Human ,Haplotypes ,Sequence Analysis ,DNA ,Genomics ,Reference Standards ,Cohort Studies ,Alleles ,Genetic Variation ,General Science & Technology - Abstract
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
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- 2023
4. Gaps and complex structurally variant loci in phased genome assemblies
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Porubsky, David, Vollger, Mitchell R, Harvey, William T, Rozanski, Allison N, Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D, Stober, Catherine, Consortium, Human Pangenome Reference, Korbel, Jan O, Paten, Benedict, Marschall, Tobias, Eichler, Evan E, Abel, Haley J, Antonacci-Fulton, Lucinda L, Asri, Mobin, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark JP, Chang, Pi-Chuan, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Cody, Sarah, Colonna, Vincenza, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Doerr, Daniel, Ebler, Jana, Eizenga, Jordan M, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Feng, Xiaowen, Fischer, Christian, Flicek, Paul, Formenti, Giulio, Frankish, Adam, Fulton, Robert S, Gao, Yan, Garg, Shilpa, Garrison, Erik, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Groza, Cristian, Guarracino, Andrea, Haggerty, Leanne, Hall, Ira M, Haukness, Marina, Haussler, David, Heumos, Simon, Hoekzema, Kendra, Hourlier, Thibaut, Howe, Kerstin, Jain, Miten, Jarvis, Erich D, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Li, Heng, Liao, Wen-Wei, Lu, Shuangjia, Lu, Tsung-Yu, Lucas, Julian K, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, Markello, Charles, Martin, Fergal J, McCartney, Ann, McDaniel, Jennifer, Miga, Karen H, Mitchell, Matthew W, Monlong, Jean, Mountcastle, Jacquelyn, Munson, Katherine M, Mwaniki, Moses Njagi, Nattestad, Maria, Novak, Adam M, and Nurk, Sergey
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Human Genome ,Humans ,DNA ,Satellite ,Polymorphism ,Genetic ,Haplotypes ,Segmental Duplications ,Genomic ,Sequence Analysis ,DNA ,Human Pangenome Reference Consortium ,Medical and Health Sciences ,Bioinformatics - Abstract
There has been tremendous progress in phased genome assembly production by combining long-read data with parental information or linked-read data. Nevertheless, a typical phased genome assembly generated by trio-hifiasm still generates more than 140 gaps. We perform a detailed analysis of gaps, assembly breaks, and misorientations from 182 haploid assemblies obtained from a diversity panel of 77 unique human samples. Although trio-based approaches using HiFi are the current gold standard, chromosome-wide phasing accuracy is comparable when using Strand-seq instead of parental data. Importantly, the majority of assembly gaps cluster near the largest and most identical repeats (including segmental duplications [35.4%], satellite DNA [22.3%], or regions enriched in GA/AT-rich DNA [27.4%]). Consequently, 1513 protein-coding genes overlap assembly gaps in at least one haplotype, and 231 are recurrently disrupted or missing from five or more haplotypes. Furthermore, we estimate that 6-7 Mbp of DNA are misorientated per haplotype irrespective of whether trio-free or trio-based approaches are used. Of these misorientations, 81% correspond to bona fide large inversion polymorphisms in the human species, most of which are flanked by large segmental duplications. We also identify large-scale alignment discontinuities consistent with 11.9 Mbp of deletions and 161.4 Mbp of insertions per haploid genome. Although 99% of this variation corresponds to satellite DNA, we identify 230 regions of euchromatic DNA with frequent expansions and contractions, nearly half of which overlap with 197 protein-coding genes. Such variable and incompletely assembled regions are important targets for future algorithmic development and pangenome representation.
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- 2023
5. The Human Pangenome Project: a global resource to map genomic diversity
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Wang, Ting, Antonacci-Fulton, Lucinda, Howe, Kerstin, Lawson, Heather A, Lucas, Julian K, Phillippy, Adam M, Popejoy, Alice B, Asri, Mobin, Carson, Caryn, Chaisson, Mark JP, Chang, Xian, Cook-Deegan, Robert, Felsenfeld, Adam L, Fulton, Robert S, Garrison, Erik P, Garrison, Nanibaa’ A, Graves-Lindsay, Tina A, Ji, Hanlee, Kenny, Eimear E, Koenig, Barbara A, Li, Daofeng, Marschall, Tobias, McMichael, Joshua F, Novak, Adam M, Purushotham, Deepak, Schneider, Valerie A, Schultz, Baergen I, Smith, Michael W, Sofia, Heidi J, Weissman, Tsachy, Flicek, Paul, Li, Heng, Miga, Karen H, Paten, Benedict, Jarvis, Erich D, Hall, Ira M, Eichler, Evan E, and Haussler, David
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Human Genome ,Biotechnology ,Generic health relevance ,Genome ,Human ,Genomics ,Haplotypes ,High-Throughput Nucleotide Sequencing ,Humans ,Sequence Analysis ,DNA ,Human Pangenome Reference Consortium ,General Science & Technology - Abstract
The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partnerships with the goal of constructing the highest-possible quality human pangenome reference. Our goal is to improve data representation and streamline analyses to enable routine assembly of complete diploid genomes. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve gene-disease association studies across populations, expand the scope of genomics research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine.
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- 2022
6. Ethical, legal, and social issues in the Earth BioGenome Project
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Sherkow, Jacob S, Barker, Katharine B, Braverman, Irus, Cook-Deegan, Robert, Durbin, Richard, Easter, Carla L, Goldstein, Melissa M, Hudson, Maui, Kress, W John, Lewin, Harris A, Mathews, Debra JH, McCarthy, Catherine, McCartney, Ann M, da Silva, Manuela, Torrance, Andrew W, and Greely, Henry T
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Human Genome ,Genetics ,Life on Land ,Animals ,Biosecurity ,Endangered Species ,Ethics ,Research ,Genomics ,Humans ,genomics ,ELSI ,EBP ,ethics ,biodiversity - Abstract
The Earth BioGenome Project (EBP) is an audacious endeavor to obtain whole-genome sequences of representatives from all eukaryotic species on Earth. In addition to the project's technical and organizational challenges, it also faces complicated ethical, legal, and social issues. This paper, from members of the EBP's Ethical, Legal, and Social Issues (ELSI) Committee, catalogs these ELSI concerns arising from EBP. These include legal issues, such as sample collection and permitting; the applicability of international treaties, such as the Convention on Biological Diversity and the Nagoya Protocol; intellectual property; sample accessioning; and biosecurity and ethical issues, such as sampling from the territories of Indigenous peoples and local communities, the protection of endangered species, and cross-border collections, among several others. We also comment on the intersection of digital sequence information and data rights. More broadly, this list of ethical, legal, and social issues for large-scale genomic sequencing projects may be useful in the consideration of ethical frameworks for future projects. While we do not-and cannot-provide simple, overarching solutions for all the issues raised here, we conclude our perspective by beginning to chart a path forward for EBP's work.
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- 2022
7. GA4GH: International policies and standards for data sharing across genomic research and healthcare
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Rehm, Heidi L, Page, Angela JH, Smith, Lindsay, Adams, Jeremy B, Alterovitz, Gil, Babb, Lawrence J, Barkley, Maxmillian P, Baudis, Michael, Beauvais, Michael JS, Beck, Tim, Beckmann, Jacques S, Beltran, Sergi, Bernick, David, Bernier, Alexander, Bonfield, James K, Boughtwood, Tiffany F, Bourque, Guillaume, Bowers, Sarion R, Brookes, Anthony J, Brudno, Michael, Brush, Matthew H, Bujold, David, Burdett, Tony, Buske, Orion J, Cabili, Moran N, Cameron, Daniel L, Carroll, Robert J, Casas-Silva, Esmeralda, Chakravarty, Debyani, Chaudhari, Bimal P, Chen, Shu Hui, Cherry, J Michael, Chung, Justina, Cline, Melissa, Clissold, Hayley L, Cook-Deegan, Robert M, Courtot, Mélanie, Cunningham, Fiona, Cupak, Miro, Davies, Robert M, Denisko, Danielle, Doerr, Megan J, Dolman, Lena I, Dove, Edward S, Dursi, L Jonathan, Dyke, Stephanie OM, Eddy, James A, Eilbeck, Karen, Ellrott, Kyle P, Fairley, Susan, Fakhro, Khalid A, Firth, Helen V, Fitzsimons, Michael S, Fiume, Marc, Flicek, Paul, Fore, Ian M, Freeberg, Mallory A, Freimuth, Robert R, Fromont, Lauren A, Fuerth, Jonathan, Gaff, Clara L, Gan, Weiniu, Ghanaim, Elena M, Glazer, David, Green, Robert C, Griffith, Malachi, Griffith, Obi L, Grossman, Robert L, Groza, Tudor, Auvil, Jaime M Guidry, Guigó, Roderic, Gupta, Dipayan, Haendel, Melissa A, Hamosh, Ada, Hansen, David P, Hart, Reece K, Hartley, Dean Mitchell, Haussler, David, Hendricks-Sturrup, Rachele M, Ho, Calvin WL, Hobb, Ashley E, Hoffman, Michael M, Hofmann, Oliver M, Holub, Petr, Hsu, Jacob Shujui, Hubaux, Jean-Pierre, Hunt, Sarah E, Husami, Ammar, Jacobsen, Julius O, Jamuar, Saumya S, Janes, Elizabeth L, Jeanson, Francis, Jené, Aina, Johns, Amber L, Joly, Yann, Jones, Steven JM, Kanitz, Alexander, Kato, Kazuto, Keane, Thomas M, and Kekesi-Lafrance, Kristina
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Biological Sciences ,Genetics ,Human Genome ,Clinical Research ,Health Services ,Generic health relevance ,Good Health and Well Being - Abstract
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.
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- 2021
8. Your Money or Your Life
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Cook-Deegan, Robert
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Capitalizing a Cure (Nonfiction work) -- Roy, Victor ,Books -- Book reviews ,Science and technology - Abstract
Victor Roy's Capitalizing a Cure is not a beach read. Its 136 pages of text are a dense, thoroughly researched analysis of drug discovery and development, a deep dive into [...]
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- 2023
9. Complicated legacies: The human genome at 20
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Jones, Kathryn Maxson, Cook-Deegan, Robert, Rotimi, Charles N, Callier, Shawneequa L, Bentley, Amy R, Stevens, Hallam, Phillips, Kathryn A, Jansen, Jeroen P, Weyant, Christopher F, Roberts, Dorothy E, Zielinski, Dina, Erlich, Yaniv, Garrison, Nanibaa' A, Carroll, Stephanie Russo, Ossorio, Pilar N, Moreau, Yves, and Wang, Maya
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Genetics ,Human Genome ,General Science & Technology - Abstract
Millions of people today have access to their personal genomic information. Direct-to-consumer services and integration with other “big data” increasingly commoditize what was rightly celebrated as a singular achievement in February 2001 when the first draft human genomes were published. But such remarkable technical and scientific progress has not been without its share of missteps and growing pains. Science invited the experts below to help explore how we got here and where we should (or ought not) be going.
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- 2021
10. Reactions to the National Academies/Royal Society Report on Heritable Human Genome Editing.
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Angrist, Misha, Barrangou, Rodolphe, Baylis, Françoise, Brokowski, Carolyn, Burgio, Gaetan, Caplan, Arthur, Chapman, Carolyn Riley, Church, George M, Cook-Deegan, Robert, Cwik, Bryan, Doudna, Jennifer A, Evans, John H, Greely, Henry T, Hercher, Laura, Hurlbut, J Benjamin, Hynes, Richard O, Ishii, Tetsuya, Kiani, Samira, Lee, LaTasha Hoskins, Levrier, Guillaume, Liu, David R, Lunshof, Jeantine E, Macintosh, Kerry Lynn, Mathews, Debra JH, Meslin, Eric M, Mills, Peter HR, Montoliu, Lluis, Musunuru, Kiran, Nicol, Dianne, O'Neill, Helen, Qiu, Renzong, Ranisch, Robert, Sherkow, Jacob S, Soni, Sheetal, Terry, Sharon, Topol, Eric, Williamson, Robert, Zhang, Feng, and Davies, Kevin
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Germ Cells ,Humans ,Human Experimentation ,Genome ,Human ,Academies and Institutes ,Societies ,Research Report ,Gene Editing ,Human Genome ,Genetics - Abstract
In September 2020, a detailed report on Heritable Human Genome Editing was published. The report offers a translational pathway for the limited approval of germline editing under limited circumstances and assuming various criteria have been met. In this perspective, some three dozen experts from the fields of genome editing, medicine, bioethics, law, and related fields offer their candid reactions to the National Academies/Royal Society report, highlighting areas of support, omissions, disagreements, and priorities moving forward.
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- 2020
11. The Role of Synthetic Biology in Atmospheric Greenhouse Gas Reduction: Prospects and Challenges.
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Church, George, Cook-Deegan, Robert, Jacoby, Henry, Lidstrom, Mary, Melillo, Jerry, Milo, Ron, Paustian, Keith, Reilly, John, Roberts, Richard, Segrè, Daniel, Solomon, Susan, Woolf, Dominic, Wullschleger, Stan, Yang, Xiaohan, DeLisi, Charles, Patrinos, Aristides, MacCracken, Michael, Drell, Dan, Annas, George, and Arkin, Adam
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The long atmospheric residence time of CO2 creates an urgent need to add atmospheric carbon drawdown to CO2 regulatory strategies. Synthetic and systems biology (SSB), which enables manipulation of cellular phenotypes, offers a powerful approach to amplifying and adding new possibilities to current land management practices aimed at reducing atmospheric carbon. The participants (in attendance: Christina Agapakis, George Annas, Adam Arkin, George Church, Robert Cook-Deegan, Charles DeLisi, Dan Drell, Sheldon Glashow, Steve Hamburg, Henry Jacoby, Henry Kelly, Mark Kon, Todd Kuiken, Mary Lidstrom, Mike MacCracken, June Medford, Jerry Melillo, Ron Milo, Pilar Ossorio, Ari Patrinos, Keith Paustian, Kristala Jones Prather, Kent Redford, David Resnik, John Reilly, Richard J. Roberts, Daniel Segre, Susan Solomon, Elizabeth Strychalski, Chris Voigt, Dominic Woolf, Stan Wullschleger, and Xiaohan Yang) identified a range of possibilities by which SSB might help reduce greenhouse gas concentrations and which might also contribute to environmental sustainability and adaptation. These include, among other possibilities, engineering plants to convert CO2 produced by respiration into a stable carbonate, designing plants with an increased root-to-shoot ratio, and creating plants with the ability to self-fertilize. A number of serious ecological and societal challenges must, however, be confronted and resolved before any such application can be fully assessed, realized, and deployed.
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- 2020
12. Breathing fresh air into the debate: Ventilators and the United States' intellectual property problem
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Tiffney, Theora W., Cook-Deegan, Robert, and Ross, Heather M.
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- 2022
- Full Text
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13. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
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Cline, Melissa S, Liao, Rachel G, Parsons, Michael T, Paten, Benedict, Alquaddoomi, Faisal, Antoniou, Antonis, Baxter, Samantha, Brody, Larry, Cook-Deegan, Robert, Coffin, Amy, Couch, Fergus J, Craft, Brian, Currie, Robert, Dlott, Chloe C, Dolman, Lena, den Dunnen, Johan T, Dyke, Stephanie OM, Domchek, Susan M, Easton, Douglas, Fischmann, Zachary, Foulkes, William D, Garber, Judy, Goldgar, David, Goldman, Mary J, Goodhand, Peter, Harrison, Steven, Haussler, David, Kato, Kazuto, Knoppers, Bartha, Markello, Charles, Nussbaum, Robert, Offit, Kenneth, Plon, Sharon E, Rashbass, Jem, Rehm, Heidi L, Robson, Mark, Rubinstein, Wendy S, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Thorogood, Adrian, Zhang, Can, Zimmermann, Marc, BRCA Challenge Authors, Burn, John, Chanock, Stephen, Rätsch, Gunnar, and Spurdle, Amanda B
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BRCA Challenge Authors ,Humans ,Breast Neoplasms ,Ovarian Neoplasms ,Genetic Predisposition to Disease ,Risk Factors ,Information Dissemination ,Gene Frequency ,Phenotype ,Penetrance ,Mutation ,Alleles ,Genes ,BRCA1 ,Genes ,BRCA2 ,Databases ,Genetic ,Female ,Male ,Genetic Variation ,Breast Cancer ,Cancer ,Genetics ,Human Genome ,2.6 Resources and infrastructure (aetiology) ,Developmental Biology - Abstract
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project's outset, of which approximately 7,250 have expert classifications. The data set is based on shared information from existing clinical databases-Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)-as well as population databases, all linked to a single point of access. The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2.
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- 2018
14. The era of reference genomes in conservation genomics
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Formenti, Giulio, Theissinger, Kathrin, Fernandes, Carlos, Bista, Iliana, Bombarely, Aureliano, Bleidorn, Christoph, Čiampor, Fedor, Ciofi, Claudio, Crottini, Angelica, Godoy, José A., Hoglund, Jacob, Malukiewicz, Joanna, Mouton, Alice, Oomen, Rebekah A., Paez, Sadye, Palsbøll, Per, Pampoulie, Christophe, Ruiz-López, María José, Svardal, Hannes, Theofanopoulou, Constantina, de Vries, Jan, Waldvogel, Ann-Marie, Zhang, Goujie, Mazzoni, Camila J., Jarvis, Erich, Bálint, Miklós, Aghayan, Sargis A., Alioto, Tyler S., Almudi, Isabel, Alvarez, Nadir, Alves, Paulo C., Amorim, Isabel R., Antunes, Agostinho, Arribas, Paula, Baldrian, Petr, Berg, Paul R., Bertorelle, Giorgio, Böhne, Astrid, Bonisoli-Alquati, Andrea, Boštjančić, Ljudevit L., Boussau, Bastien, Breton, Catherine M., Buzan, Elena, Campos, Paula F., Carreras, Carlos, Castro, L. FIlipe, Chueca, Luis J., Conti, Elena, Cook-Deegan, Robert, Croll, Daniel, Cunha, Mónica V., Delsuc, Frédéric, Dennis, Alice B., Dimitrov, Dimitar, Faria, Rui, Favre, Adrien, Fedrigo, Olivier D., Fernández, Rosa, Ficetola, Gentile Francesco, Flot, Jean-François, Gabaldón, Toni, Galea Agius, Dolores R., Gallo, Guido R., Giani, Alice M., Gilbert, M. Thomas P., Grebenc, Tine, Guschanski, Katerina, Guyot, Romain, Hausdorf, Bernhard, Hawlitschek, Oliver, Heintzman, Peter D., Heinze, Berthold, Hiller, Michael, Husemann, Martin, Iannucci, Alessio, Irisarri, Iker, Jakobsen, Kjetill S., Jentoft, Sissel, Klinga, Peter, Kloch, Agnieszka, Kratochwil, Claudius F., Kusche, Henrik, Layton, Kara K.S., Leonard, Jennifer A., Lerat, Emmanuelle, Liti, Gianni, Manousaki, Tereza, Marques-Bonet, Tomas, Matos-Maraví, Pável, Matschiner, Michael, Maumus, Florian, Mc Cartney, Ann M., Meiri, Shai, Melo-Ferreira, José, Mengual, Ximo, Monaghan, Michael T., Montagna, Matteo, Mysłajek, Robert W., Neiber, Marco T., Nicolas, Violaine, Novo, Marta, Ozretić, Petar, Palero, Ferran, Pârvulescu, Lucian, Pascual, Marta, Paulo, Octávio S., Pavlek, Martina, Pegueroles, Cinta, Pellissier, Loïc, Pesole, Graziano, Primmer, Craig R., Riesgo, Ana, Rüber, Lukas, Rubolini, Diego, Salvi, Daniele, Seehausen, Ole, Seidel, Matthias, Secomandi, Simona, Studer, Bruno, Theodoridis, Spyros, Thines, Marco, Urban, Lara, Vasemägi, Anti, Vella, Adriana, Vella, Noel, Vernes, Sonja C., Vernesi, Cristiano, Vieites, David R., Waterhouse, Robert M., Wheat, Christopher W., Wörheide, Gert, Wurm, Yannick, Zammit, Gabrielle, Höglund, Jacob, Palsbøll, Per J., Ruiz-López, María J., Zhang, Guojie, and Jarvis, Erich D.
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- 2022
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15. "I Just Assumed This Was Already Being Done": Canadian Patient Preferences for Enhanced Data Sharing for Precision Oncology.
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Pollard, Samantha, Ehman, Morgan, Hermansen, Anna, Weymann, Deirdre, Krebs, Emanuel, Ho, Cheryl, Lim, Howard J., Jones, Steven, Bombard, Yvonne, Hanna, Timothy P., Hessels, Chiquita, Longstaff, Holly, Cook-Deegan, Robert, Bubela, Tania, and Regier, Dean A.
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PATIENT participation ,PATIENT preferences ,PATIENT autonomy ,THEMATIC analysis ,INFORMATION sharing - Abstract
PURPOSE: In Canada, health data are siloed, slowing bioinnovation and evidence generation for personalized cancer care. Secured data-sharing platforms (SDSPs) can enable data analysis across silos through rapid concatenation across trial and real-world settings and timely researcher access. To motivate patient participation and trust in research, it is critical to ensure that SDSP design and oversight align with patients' values and address their concerns. We sought to qualitatively characterize patient preferences for the design of a pan-Canadian SDSP. METHODS: Between January 2022 and July 2023, we conducted pan-Canadian virtual focus groups with individuals who had a personal history of cancer. Following each focus group, participants were invited to provide feedback on early-phase analysis results via a member-checking survey. Three trained qualitative researchers analyzed data using thematic analysis. RESULTS: Twenty-eight individuals participated across five focus groups. Four focus groups were conducted in English and one in French. Thematic analysis generated two major and five minor themes. Analytic themes spanned personal and population implications of data sharing and willingness to manage perceived risks. Participants were supportive of increasing access to health data for precision oncology research, while voicing concerns about unintended data use, reidentification, and inequitable access to costly therapeutics. To mitigate perceived risks, participants highlighted the value of data access oversight and governance and informational transparency. CONCLUSION: Strategies for secured data sharing should anticipate and mitigate the risks that patients perceive. Participants supported enhancing timely research capability while ensuring safeguards to protect patient autonomy and privacy. Our study informs the development of data-governance and data-sharing frameworks that integrate real-world and trial data, informed by evidence from direct patient input. @CLEONetwork researchers identify patient priorities for enhanced precision oncology data sharing initiatives [ABSTRACT FROM AUTHOR]
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- 2024
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16. The Myriad Decision at 10.
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Sherkow, Jacob S., Cook-Deegan, Robert, and Greely, Henry T.
- Abstract
A decade ago, the US Supreme Court decided Association for Molecular Pathology v. Myriad Genetics, Inc., concluding that isolated genes were not patentable subject matter. Beyond being a mere patent dispute, the case was a political and cultural phenomenon, viewed as a harbinger for the health of the biotechnology industry. With a decade of perspective, though, Myriad's impact seems much narrower. The law surrounding patentable subject matter—while greatly transformed—only centered on Myriad in small part. The case had only a modest impact on patenting practices both in and outside the United States. And persistent efforts to legislatively overturn the decision have not borne fruit. The significance of Myriad thus remains, even a decade later, hidden by larger developments in science and law that have occurred since the case was decided. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
17. Chapter 8 The BRCA patent controversies
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van Zimmeren, Esther, Nicol, Dianne, Gold, Richard, Carbone, Julia, Chandrasekharan, Subhashini, Lane Baldwin, A., and Cook-Deegan, Robert
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Society and culture: general ,Social and cultural anthropology ,Sociology ,bic Book Industry Communication::J Society & social sciences::JF Society & culture: general ,bic Book Industry Communication::J Society & social sciences::JH Sociology & anthropology::JHM Anthropology::JHMC Social & cultural anthropology, ethnography ,bic Book Industry Communication::J Society & social sciences::JH Sociology & anthropology::JHB Sociology - Abstract
The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF under a Creative Commons Attribution-Non Commercial-No Derivatives 3.0 license. https://s3-us-west-2.amazonaws.com/tandfbis/rt-files/docs/Open+Access+Chapters/9780415824064_oachapter8.pdf
- Published
- 2014
18. MEDICAL INFORMATION COMMONS: CONCEPTUAL, LEGAL AND ETHICAL CONSIDERATIONS FOR STAKEHOLDERS
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Geary, Janis, primary, Majumder, Mary A., additional, Oliver Robinson, Jill, additional, Guerrini, Christi, additional, and Cook-Deegan, Robert, additional
- Published
- 2022
- Full Text
- View/download PDF
19. Sorry you asked? Mayo, Myriad, and the battles over patent-eligibility
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Cook-Deegan, Robert, primary, Geary, Janis, additional, Hapke, Kara, additional, Skvarkova, Zuzana, additional, Filipek, Marina, additional, and Leaver, Jillian, additional
- Published
- 2024
- Full Text
- View/download PDF
20. Incorporating Ethics Into Technology Assessment
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GRAVES, ZACH and COOK-DEEGAN, ROBERT
- Published
- 2019
21. Wizards of the Information Age
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Cook-Deegan, Robert, primary
- Published
- 2021
- Full Text
- View/download PDF
22. Ethically Managing Risks in Global Health Fieldwork : Human Rights Ideals Confront Real World Challenges
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HALL-CLIFFORD, RACHEL and COOK-DEEGAN, ROBERT
- Published
- 2019
23. Ethics of Global Health Photography : A Focus on Being More Human
- Author
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GRAHAM, AUBREY P., LAVERY, JAMES V., and COOK-DEEGAN, ROBERT
- Published
- 2019
24. Global Health Fieldwork Ethics : Mapping the Challenges
- Author
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HALL-CLIFFORD, RACHEL, ADDISS, DAVID G., COOK-DEEGAN, ROBERT, and LAVERY, JAMES V.
- Published
- 2019
25. The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project
- Author
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Jones, Kathryn Maxson, Ankeny, Rachel A., and Cook-Deegan, Robert
- Published
- 2018
26. Progress Against Alzheimer’s Disease?
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COOK-DEEGAN, ROBERT
- Published
- 2018
27. Universities : The Fallen Angels of Bayh-Dole?
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Eisenberg, Rebecca S. and Cook-Deegan, Robert
- Published
- 2018
28. An Elusive Consensus
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Cook-Deegan, Robert
- Subjects
Human Flourishing in an Age of Gene Editing (Essay collection) ,Designing Babies (Nonfiction work) -- Klitzman, Robert ,Altered Inheritance (Nonfiction work) -- Baylis, Franchise ,Science and technology - Abstract
A few months into my medical training, I heard Fred Sanger, the Nobel prize-winning biochemist, describe a miracle--DNA sequencing in his lab--and Ray White, a pioneer in human genetics, excitedly [...]
- Published
- 2020
29. Perspectives on Genetic and Genomic Technologies in an Academic Medical Center: The Duke Experience
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Katsanis, Sara Huston, Minear, Mollie A, Vorderstrasse, Allison, Yang, Nancy, Reeves, Jason W, Rakhra-Burris, Tejinder, Cook-Deegan, Robert, Ginsburg, Geoffrey S, and Simmons, Leigh Ann
- Subjects
Pharmacology and Pharmaceutical Sciences ,Biomedical and Clinical Sciences ,Clinical Sciences ,Health Services ,Clinical Research ,Genetic Testing ,Genetics ,Human Genome ,Generic health relevance ,Good Health and Well Being ,Medical biochemistry and metabolomics ,Medical biotechnology ,Pharmacology and pharmaceutical sciences - Abstract
UnlabelledIn this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice.MethodsWe surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers' use of genetic and genomic testing options and indications in clinical practice, providers' awareness of pharmacogenetic applications, and providers' opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.
- Published
- 2015
30. Chapter 8. The Jewel in the Federal Crown? History, Politics, and the National Institutes of Health
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Cook-Deegan, Robert, primary
- Published
- 2020
- Full Text
- View/download PDF
31. Policy options to facilitate cancer genomic variant data sharing: outcomes of a modified policy Delphi
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Robinson, Jill O, primary, Daoud, Amira, additional, Geary, Janis, additional, Rahimzadeh, Vasiliki, additional, Bollinger, Juli, additional, Guerrini, Christi J, additional, Cook-Deegan, Robert, additional, McGuire, Amy L, additional, and Majumder, Mary A, additional
- Published
- 2023
- Full Text
- View/download PDF
32. How genomics can help biodiversity conservation
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Theissinger, Kathrin, primary, Fernandes, Carlos, additional, Formenti, Giulio, additional, Bista, Iliana, additional, Berg, Paul R., additional, Bleidorn, Christoph, additional, Bombarely, Aureliano, additional, Crottini, Angelica, additional, Gallo, Guido R., additional, Godoy, José A., additional, Jentoft, Sissel, additional, Malukiewicz, Joanna, additional, Mouton, Alice, additional, Oomen, Rebekah A., additional, Paez, Sadye, additional, Palsbøll, Per J., additional, Pampoulie, Christophe, additional, Ruiz-López, María J., additional, Secomandi, Simona, additional, Svardal, Hannes, additional, Theofanopoulou, Constantina, additional, de Vries, Jan, additional, Waldvogel, Ann-Marie, additional, Zhang, Guojie, additional, Jarvis, Erich D., additional, Bálint, Miklós, additional, Ciofi, Claudio, additional, Waterhouse, Robert M., additional, Mazzoni, Camila J., additional, Höglund, Jacob, additional, Aghayan, Sargis A., additional, Alioto, Tyler S., additional, Almudi, Isabel, additional, Alvarez, Nadir, additional, Alves, Paulo C., additional, Amorim do Rosario, Isabel R., additional, Antunes, Agostinho, additional, Arribas, Paula, additional, Baldrian, Petr, additional, Bertorelle, Giorgio, additional, Böhne, Astrid, additional, Bonisoli-Alquati, Andrea, additional, Boštjančić, Ljudevit L., additional, Boussau, Bastien, additional, Breton, Catherine M., additional, Buzan, Elena, additional, Campos, Paula F., additional, Carreras, Carlos, additional, Castro, L. FIlipe C., additional, Chueca, Luis J., additional, Čiampor, Fedor, additional, Conti, Elena, additional, Cook-Deegan, Robert, additional, Croll, Daniel, additional, Cunha, Mónica V., additional, Delsuc, Frédéric, additional, Dennis, Alice B., additional, Dimitrov, Dimitar, additional, Faria, Rui, additional, Favre, Adrien, additional, Fedrigo, Olivier D., additional, Fernández, Rosa, additional, Ficetola, Gentile Francesco, additional, Flot, Jean-François, additional, Gabaldón, Toni, additional, Agius, Dolores R., additional, Giani, Alice M., additional, Gilbert, M. Thomas P., additional, Grebenc, Tine, additional, Guschanski, Katerina, additional, Guyot, Romain, additional, Hausdorf, Bernhard, additional, Hawlitschek, Oliver, additional, Heintzman, Peter D., additional, Heinze, Berthold, additional, Hiller, Michael, additional, Husemann, Martin, additional, Iannucci, Alessio, additional, Irisarri, Iker, additional, Jakobsen, Kjetill S., additional, Klinga, Peter, additional, Kloch, Agnieszka, additional, Kratochwil, Claudius F., additional, Kusche, Henrik, additional, Layton, Kara K.S., additional, Leonard, Jennifer A., additional, Lerat, Emmanuelle, additional, Liti, Gianni, additional, Manousaki, Tereza, additional, Marques-Bonet, Tomas, additional, Matos-Maraví, Pável, additional, Matschiner, Michael, additional, Maumus, Florian, additional, Mc Cartney, Ann M., additional, Meiri, Shai, additional, Melo-Ferreira, José, additional, Mengual, Ximo, additional, Monaghan, Michael T., additional, Montagna, Matteo, additional, Mysłajek, Robert W., additional, Neiber, Marco T., additional, Nicolas, Violaine, additional, Novo, Marta, additional, Ozretić, Petar, additional, Palero, Ferran, additional, Pârvulescu, Lucian, additional, Pascual, Marta, additional, Paulo, Octávio S., additional, Pavlek, Martina, additional, Pegueroles, Cinta, additional, Pellissier, Loïc, additional, Pesole, Graziano, additional, Primmer, Craig R., additional, Riesgo, Ana, additional, Rüber, Lukas, additional, Rubolini, Diego, additional, Salvi, Daniele, additional, Seehausen, Ole, additional, Seidel, Matthias, additional, Studer, Bruno, additional, Theodoridis, Spyros, additional, Thines, Marco, additional, Urban, Lara, additional, Vasemägi, Anti, additional, Vella, Adriana, additional, Vella, Noel, additional, Vernes, Sonja C., additional, Vernesi, Cristiano, additional, Vieites, David R., additional, Wheat, Christopher W., additional, Wörheide, Gert, additional, Wurm, Yannick, additional, and Zammit, Gabrielle, additional
- Published
- 2023
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33. Racing for academic glory and patents : Lessons from CRISPR
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Rai, Arti K. and Cook-Deegan, Robert
- Published
- 2017
34. 15. Does NIH need a DARPA?
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Cook-Deegan, Robert, primary
- Published
- 2019
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- View/download PDF
35. The emergence of commercial genomics: analysis of the rise of a biotechnology subsector during the Human Genome Project, 1990 to 2004
- Author
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Wiechers, Ilse R, Perin, Noah C, and Cook-Deegan, Robert
- Subjects
Biological Sciences ,Genetics ,Human Genome ,Biotechnology ,Clinical Sciences - Abstract
BackgroundDevelopment of the commercial genomics sector within the biotechnology industry relied heavily on the scientific commons, public funding, and technology transfer between academic and industrial research. This study tracks financial and intellectual property data on genomics firms from 1990 through 2004, thus following these firms as they emerged in the era of the Human Genome Project and through the 2000 to 2001 market bubble.MethodsA database was created based on an early survey of genomics firms, which was expanded using three web-based biotechnology services, scientific journals, and biotechnology trade and technical publications. Financial data for publicly traded firms was collected through the use of four databases specializing in firm financials. Patent searches were conducted using firm names in the US Patent and Trademark Office website search engine and the DNA Patent Database.ResultsA biotechnology subsector of genomics firms emerged in parallel to the publicly funded Human Genome Project. Trends among top firms show that hiring, capital improvement, and research and development expenditures continued to grow after a 2000 to 2001 bubble. The majority of firms are small businesses with great diversity in type of research and development, products, and services provided. Over half the public firms holding patents have the majority of their intellectual property portfolio in DNA-based patents.ConclusionsThese data allow estimates of investment, research and development expenditures, and jobs that paralleled the rise of genomics as a sector within biotechnology between 1990 and 2004.
- Published
- 2013
36. The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project
- Author
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Maxson Jones, Kathryn, Ankeny, Rachel A., and Cook-Deegan, Robert
- Published
- 2018
- Full Text
- View/download PDF
37. What's the Use? Disparate Purposes of U.S. Federal Bioethics Commissions
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BRIAN, JENNY DYCK and COOK-DEEGAN, ROBERT
- Published
- 2017
38. Patents and Innovation in Cancer Therapeutics: Lessons from CellPro
- Author
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Bar-Shalom, Avital and Cook-Deegan, Robert
- Published
- 2002
39. National Partnership for Maternal Safety: Consensus Bundle on Venous Thromboembolism
- Author
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Urato, Adam C., Abi-Jaoude, Elia, Abramson, John, Alter, Harrison, Andrew, Louise B., Antonuccio, David, Bero, Lisa, Biron, Pierre, Boylan, Laura S., Braillon, Alain, Brophy, James M., Brownlee, Shannon, Cassels, Alan, Cook-Deegan, Robert, Cosgrove, Lisa, De Fiore, Luca, Deyo, Richard A., Elshaug, Adam, Farquhar, Cindy, Fatovich, Daniel M., Fingerman, Eileen, Gérvas, Juan, Gøtzsche, Peter C., Gracia, Rafael, Heath, Iona, Himmelstein, David U., Hoffman, Jerome R., Järvinen, Teppo, Jureidini, Jon, Kotaska, Andrew, Kuehlein, Thomas, Lenzer, Jeanne, Levenstein, Susan, Lexchin, Joel, Mintzes, Barbara, Naudet, Florian, Niquette, Manon, Orellana Navarrete, Lusy Paulyna, Pearson, Cynthia A., Rail, Geneviève, Roberts, Richard, Shah, Naman, Sharav, Vera, Siwek, Jay, Topolski, Stefan, and Tsai, Alexander C.
- Published
- 2019
- Full Text
- View/download PDF
40. Big Advocacy, Little Recognition: The Hidden Work of Black Patients in Precision Medicine
- Author
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Gerido, Lynette Hammond, primary, Resnicow, Kenneth, additional, Stoffel, Elena, additional, Tomlin, Tiah, additional, Cook-Deegan, Robert, additional, Cline, Melissa, additional, Coffin, Amy, additional, Holdren, Jill, additional, Majumder, Mary Anderlik, additional, and He, Zhe, additional
- Published
- 2023
- Full Text
- View/download PDF
41. Fresh takes on five health data sharing domains: Quality, privacy, equity, incentives, and sustainability
- Author
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Guerrini, Christi J., primary, Majumder, Mary A., additional, Robinson, Jill O., additional, Cook-Deegan, Robert, additional, Blank, Matthew, additional, Bollinger, Juli, additional, Geary, Janis, additional, Gutierrez, Amanda M., additional, Shrikant, Maya, additional, and McGuire, Amy L., additional
- Published
- 2023
- Full Text
- View/download PDF
42. Payer reimbursement practices and incentives for improving interpretation of germline genetic testing.
- Author
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Deverka, Patricia, Geary, Janis, Mathews, Charles, Cohen, Matan, Hooker, Gillian, Majumder, Mary, Skvarkova, Zuzana, and Cook-Deegan, Robert
- Subjects
GENETIC testing ,REIMBURSEMENT ,GERM cells ,INFORMATION sharing ,KNOWLEDGE gap theory ,UNNECESSARY surgery - Abstract
Germline genetic testing for inherited cancer risk has shifted to multi-gene panel tests (MGPTs). While MGPTs detect more pathogenic variants, they also detect more variants of uncertain significance (VUSs) that increase the possibility of harms such as unnecessary surgery. Data sharing by laboratories is critical to addressing the VUS problem. However, barriers to sharing and an absence of incentives have limited laboratory contributions to the ClinVar database. Payers can play a crucial role in the expansion of knowledge and effectiveness of genetic testing. Current policies affecting MGPT reimbursement are complex and create perverse incentives. Trends in utilization and coverage for private payers and Medicare illustrate opportunities and challenges for data sharing to close knowledge gaps and improve clinical utility. Policy options include making data sharing (i) a condition of payment, and (ii) a metric of laboratory quality in payment contracts, yielding preferred coverage or enhanced reimbursement. Mandating data sharing sufficient to verify interpretations and resolve discordance among labs under Medicare and federal health programs is an option for the US Congress. Such policies can reduce the current waste of valuable data needed for precision oncology and improved patient outcomes, enabling a learning health system. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
43. Supplemental Files for Payer Incentives for Improving Interpretation of Germline Genetic Testing
- Author
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Geary, Janis, Deverka, Patricia, Mathews, Charles, Hooker, Gillian, Majumder, Mary, Cohen, Matan, and Cook-Deegan, Robert
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CMS billing ,hereditarycancer test cost - Abstract
Data and methods used to analyze the data that are included in the paper "Payer incentives for improving interpretation of germline genetic testing"
- Published
- 2022
- Full Text
- View/download PDF
44. Has NIH Lost Its Halo?
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COOK-DEEGAN, ROBERT
- Published
- 2015
45. Not So Fast
- Author
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COOK-DEEGAN, ROBERT
- Published
- 2021
46. The Bayh-Dole Act at 40: Accomplishments, Challenges, and Possible Reforms
- Author
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Sarpatwari, Ameet, primary, Kesselheim, Aaron S., additional, and Cook-Deegan, Robert, additional
- Published
- 2022
- Full Text
- View/download PDF
47. How Bioethics Can Inform Policy Decisions About Genetic Enhancement
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Cook-Deegan, Robert, Lohr, Kathleen N., Palmer, Julie Gage, Engelhardt, H. Tristram, Jr., editor, Rasmussen, Lisa M., editor, Lustig, B. Andrew, editor, Brody, Baruch A., editor, and McKenny, Gerald P., editor
- Published
- 2008
- Full Text
- View/download PDF
48. In support of mitochondrial replacement therapy
- Author
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Adashi, Eli Y., Caplan, Arthur L., Capron, Alexander, Chapman, Audrey R., Cho, Mildred, Clayton, Ellen Wright, Cohen, I. Glenn, Cook-Deegan, Robert, Faden, Ruth R., Friedmann, Theodore, Gostin, Lawrence O., Greely, Henry T., Johnston, Josephine, Juengst, Eric, King, Patricia A., Knowles, Lori P., Lyerly, Anne Drapkin, McGuire, Amy L., Moreno, Jonathan D., Rothenberg, Karen, Truog, Robert D., and Walters, LeRoy
- Published
- 2019
- Full Text
- View/download PDF
49. Development of an Open Database of Genes Included in Hereditary Cancer Genetic Testing Panels Available From Major Sources in the US
- Author
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Geary, Janis, primary, Majumder, Mary, additional, Guerrini, Christi, additional, and Cook-Deegan, Robert, additional
- Published
- 2022
- Full Text
- View/download PDF
50. Moving Beyond "Isolated" Gene Patents
- Author
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Rai, Arti K. and Cook-Deegan, Robert
- Published
- 2013
- Full Text
- View/download PDF
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