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51. A practical checklist for return of results from genomic research in the European context

Author

Vears, Danya F., primary, Hallowell, Nina, additional, Bentzen, Heidi Beate, additional, Ellul, Bridget, additional, Nøst, Therese Haugdahl, additional, Kerasidou, Angeliki, additional, Kerr, Shona M., additional, Th. Mayrhofer, Michaela, additional, Mežinska, Signe, additional, Ormondroyd, Elizabeth, additional, Solberg, Berge, additional, Sand, Birgitte Wirum, additional, and Budin-Ljøsne, Isabelle, additional

Published
2023
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54. Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

Author

Vears,Danya F, Savulescu,Julian, Christodoulou,John, Wall,Meaghan, Newson,Ainsley J, Vears,Danya F, Savulescu,Julian, Christodoulou,John, Wall,Meaghan, and Newson,Ainsley J

Abstract

Danya F Vears,1,2 Julian Savulescu,3– 6 John Christodoulou,1,2 Meaghan Wall,7 Ainsley J Newson8 1Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia; 2University of Melbourne, Melbourne, Victoria, 3052, Australia; 3Chen Su Lan Centennial Professor in Medical Ethics, Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; 4Visiting Professorial Fellow in Biomedical Ethics, Murdoch Children’s Research Institute, Parkville, Victoria, Australia; 5Distinguished Visiting Professor in Law, Melbourne University, Carlton, Victoria, Australia; 6Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK; 7Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, Victoria, Australia; 8Faculty of Medicine & Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Sydney, New South Wales, AustraliaCorrespondence: Danya F Vears, Biomedical Ethics Research Group, Murdoch Children’s Research Institute, Parkville, Victoria, 3052, Australia, Email danya.vears@mcri.edu.auAbstract: The introduction of genomic sequencing technologies into routine newborn screening programs in some form is not only inevitable but also already occurring in some settings. The question is therefore not “if” but “when and how” genomic newborn screening (GNBS) should be implemented. In April 2022, the Centre for Ethics of Paediatric Genomics held a one-day symposium exploring ethical issues relating to the use of genomic sequencing in a range of clinical settings. This review article synthesises the panel discussion and presents both the potential benefits of wide-scale implementation of genomic newborn screening, as well as its practical and ethical issues, including obtaining appropriate consent, and health system implications. A more in-depth understanding of the barriers associated with implementing genomic

Published
2023

56. Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

Author

Vears, Danya F., Lynch, Fiona, Nisselle, Amy, Ayres, Samantha, and Stark, Zornitza

Abstract

Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. Rapid genomic testing should be delivered with as fast a turnaround time as possible. Laboratories should use genome, rather than exome, sequencing wherever possible. Incidental, secondary findings, and variants of uncertain significance should be reported judiciously. While we recommend the trio approach in this setting, infants or children should not be excluded from rapid genomic testing programmes if one or both biological parents are unavailable.

Published
2024
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57. Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework

Author

Tutty, Erin, Archibald, Alison D., Downie, Lilian, Gaff, Clara, Lunke, Sebastian, Vears, Danya F., Stark, Zornitza, and Best, Stephanie

Abstract

Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the benefits of NBS by screening infants for a greater number and variety of childhood-onset conditions. This study aimed to describe who needs to do what, when, and for whom to deliver genomic newborn screening (gNBS) and capture perceived implementation barriers and enablers. ‘Key informants’ (individuals involved in the delivery of NBS) were interviewed. The Actor, Action, Context, Time and Target framework guided data collection and analysis. Participants (N= 20) identified new Actions required to deliver gNBS (educating healthcare providers, longitudinal psychosocial support), NBS Actions needing modification (obtaining consent) and NBS Actions that could be adopted for gNBS (prompt referral pathways). Obtaining consent in a prenatal Context was a source of some disagreement. The Time to disclose high chance results was raised as a key consideration in gNBS programme design. Genetic counsellors were identified as key Actors in results management, but workforce limitations may be a barrier. Online decision support tools were an enabler to offering gNBS. The implementation of gNBS will require behaviour changes from HCPs delivering NBS. Findings can inform how to deliver gNBS at population-scale.

Published
2024
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58. Consent for rapid genomic sequencing for critically ill children: legal and ethical issues

Author

Gyngell, Christopher, Lynch, Fiona, Stark, Zornitza, and Vears, Danya

Abstract

Although rapid genomic sequencing (RGS) is improving care for critically ill children with rare disease, it also raises important ethical questions that need to be explored as its use becomes more widespread. Two such questions relate to the degree of consent that should be required for RGS to proceed and whether it might ever be appropriate to override parents’ decisions not to allow RGS to be performed in their critically ill child. To explore these questions, we first examine the legal frameworks on securing consent for genomic sequencing and how they apply to the specific context of RGS for critically ill children. We then use a tool from clinical ethics, the Zone of Parental Discretion, to explore two case studies and identify under which circumstances it might be appropriate for parental refusal of RGS to be overridden. We argue that RGS may be a context where, in addition to assessing the complexity of the test offered, it is ethically appropriate to consider an effect on patient outcomes when deciding the degree of consent required. We also suggest that there are some contexts where it may be ethically justified to perform RGS, even when it is actively against the wishes of the parents. More work is needed to examine exactly how ‘time-sensitive’ exceptions to current guidance on consent for genomic sequencing could be formulated and operationalised for RGS for critically ill-children.

Published
2024
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70. Return of results from genomic research: a practical tool

Author

Vears, Danya, primary, Hallowell, Nina, additional, Bentzen, Heidi Beate, additional, Ellul, Bridget, additional, Nøst, Therese, additional, Kerasidou, Angeliki, additional, Kerr, Shona, additional, Mayrhofer, Michaela, additional, Mežinska, Signe, additional, Ormondroyd, Elizabeth, additional, Solberg, Berge, additional, Sand, Birgitte, additional, and Budin-Ljøsne, Isabelle, additional

Published
2022
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73. Genetic epilepsy with febrile seizures plus: Refining the spectrum

Author

Zhang, Yue-Hua, Burgess, Rosemary, Malone, Jodie P., Glubb, Georgie C., Helbig, Katherine L., Vadlamudi, Lata, Kivity, Sara, Afawi, Zaid, Bleasel, Andrew, Grattan-Smith, Padraic, Grinton, Bronwyn E., Bellows, Susannah T., Vears, Danya F., Damiano, John A., Goldberg-Stern, Hadassa, Korczyn, Amos D., Dibbens, Leanne M., Ruzzo, Elizabeth K., Hildebrand, Michael S., Berkovic, Samuel F., and Scheffer, Ingrid E.

Published
2017
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74. Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening.

Author

Cao, Michelle, Notini, Lauren, Ayres, Samantha, and Vears, Danya F.

Abstract

Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical settings has reignited the discussion on whether GS can and should be integrated into NBS. Yet, the perspectives of healthcare professionals (HCPs) in Australia on the ethical and practical issues associated with the implementation of genomic newborn screening (GNBS) are underexplored. To address this, we conducted semi‐structured interviews with 16 Australian HCPs with clinical or policy experience in NBS and/or GS to explore their perspectives on the ethical, social, and practical issues raised by integrating GS into NBS. Interviews were analyzed using inductive content analysis. When asked whether GS should be incorporated into NBS, HCPs did not feel it was currently appropriate but there was a strong consensus it may be implemented within the next decade. However, HCPs had differing perspectives on what conditions should be included and how to best handle the volume of data generated from GNBS. Our findings have important implications for determining at what point and how genomics can be integrated into NBS. The differing views expressed amongst HCPs suggest that further research is needed to explore the reasons behind this. Importantly, our participants highlighted a potential role for genetic counselors in the implementation of GNBS on a larger scale by developing educational resources to facilitate obtaining informed consent and return of results. [ABSTRACT FROM AUTHOR]

Published
2023
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75. Navigating the uncertainties of next‐generation sequencing in the genetics clinic.

Author

Kuiper, Janneke M. L., Borry, Pascal, Vears, Danya F., Van Esch, Hilde, and Van Hoyweghen, Ine

Subjects
RESEARCH, MEETINGS, SEQUENCE analysis, GENETICS, NEGOTIATION, UNCERTAINTY, GENETIC testing, INTERVIEWING, FIELDWORK (Educational method), RESEARCH funding, HEALTH care teams, MEDICAL referrals, INTERPROFESSIONAL relations, GENOMICS, EMPIRICAL research, PATIENT-professional relations, THEMATIC analysis
Abstract

This study explores the different manifestations and navigations of uncertainty in the practice of diagnostic next‐generation sequencing (NGS) testing. Drawing upon multi‐sited fieldwork conducted at a large Centre for Human Genetics in Belgium, we analyse how uncertainty takes shape and is managed in the different steps of the diagnostic process: starting from the testing offer, to the analysis in the lab, the multidisciplinary team meetings (MDTs) and ending with the consultation with the patient. Building on interviews with genetic healthcare professionals and their patients and observations in consultations and MDTs, our empirical work underlines the duality of uncertainty as both burdensome and productive. Building on the existing literature on uncertainty in medicine and NGS, our analysis shows the ontological politics at play in the everyday uncertainty work in this CHG. We show how the, at times, contrasting ways of dealing with uncertainty lead to friction but also result in constructive negotiation and collaboration between actors, making use of multiple types of evidence and expertise. By not only minimising but also sustaining or inviting uncertainty, genetic healthcare professionals are able to advance the practices around NGS in a way that matches their multidisciplinary understandings, considerations and more normative stances. [ABSTRACT FROM AUTHOR]

Published
2023
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81. Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data

Author

Middleton, Anna, Milne, Richard, Howard, Heidi, Niemiec, Emilia, Robarts, Lauren, Critchley, Christine, Nicol, Dianne, Prainsack, Barbara, Atutornu, Jerome, Vears, Danya F, Smith, James, Steed, Claire, Bevan, Paul, Scott, Erick R, Bobe, Jason, Goodhand, Peter, Kleiderman, Erika, Thorogood, Adrian, Morley, Katherine I, Participant Values Work Stream Of The Global Alliance For Genomics And Health, Middleton, Anna [0000-0003-3103-8098], Milne, Richard [0000-0002-8770-2384], Nicol, Dianne [0000-0002-6553-2839], Vears, Danya F [0000-0002-6290-545X], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Canada, Health Knowledge, Attitudes, Practice, Genome, Human, Information Dissemination, Australia, Middle Aged, United Kingdom, United States, Public Opinion, Humans, Female, Genetic Testing, Genetic Privacy
Abstract

Public acceptance is critical for sharing of genomic data at scale. This paper examines how acceptance of data sharing pertains to the perceived similarities and differences between DNA and other forms of personal data. It explores the perceptions of representative publics from the USA, Canada, the UK and Australia (n = 8967) towards the donation of DNA and health data. Fifty-two percent of this public held 'exceptionalist' views about genetics (i.e., believed DNA is different or 'special' compared to other types of medical information). This group was more likely to be familiar with or have had personal experience with genomics and to perceive DNA information as having personal as well as clinical and scientific value. Those with personal experience with genetics and genetic exceptionalist views were nearly six times more likely to be willing to donate their anonymous DNA and medical information for research than other respondents. Perceived harms from re-identification did not appear to dissuade publics from being willing to participate in research. The interplay between exceptionalist views about genetics and the personal, scientific and clinical value attributed to data would be a valuable focus for future research.

Published
2020

82. Return of individual research results from genomic research: A systematic review of stakeholder perspectives

Author

Vears, Danya F., primary, Minion, Joel T., additional, Roberts, Stephanie J., additional, Cummings, James, additional, Machirori, Mavis, additional, Blell, Mwenza, additional, Budin-Ljøsne, Isabelle, additional, Cowley, Lorraine, additional, Dyke, Stephanie O. M., additional, Gaff, Clara, additional, Green, Robert, additional, Hall, Alison, additional, Johns, Amber L., additional, Knoppers, Bartha M., additional, Mulrine, Stephanie, additional, Patch, Christine, additional, Winkler, Eva, additional, and Murtagh, Madeleine J., additional

Published
2021
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85. GA4GH: International policies and standards for data sharing across genomic research and healthcare

Author

Abigail Wexner Research Institute, Academy of Finland, Medical Research Future Fund, BioBank Japan, Canada Foundation for Innovation, Canadian Institutes of Health Research, European Commission, German Research Foundation, Genome Canada, Google, Howard Hughes Medical Institute, Instituto de Salud Carlos III, Japan Agency for Medical Research and Development, Mayo Clinic, Fundación la Caixa, Ministère de l'Économie et de l'Innovation (Québec), Monarch Initiative, National Human Genome Research Institute (US), National University of Singapore, Agency for Science, Technology and Research A*STAR (Singapore), National Health and Medical Research Council (Australia), National Institutes of Health (US), National Institute of General Medical Sciences (US), Swiss Institute of Bioinformatics, State Secretariat for Education, Research and Innovation (Switzerland), Terry Fox Research Institute, Canada Research Chairs, European Molecular Biology Laboratory, Ministry of Research, Innovation and Science (Ontario), Ontario Genomics Institute, Natural Sciences and Engineering Research Council of Canada, Wellcome Trust, National Taiwan University, Rehm, Heidi L., Page, Angela, Smith, Lindsay, Adams, Jeremy B., Alterovitz, Gil, Babb, Lawrence J., Barkley, Maxmillian P., Baudis, Michael, Beauvais, Michael J. S., Beck, Tim, Beckmann, Jacques S., Varma, Susheel, Vears, Danya F., Viner, Coby, Voisin, Craig, Wagner, Alex H., Wallace, Susan E., Walsh, Brian P., Williams, Marc S., Winkler, Eva C., Brudno, Michael, Kelleher, Jerome, Wold, Barbara J., Wood, Grant M., Woolley, J. Patrick, Yamasaki, Chisato, Yates, Andrew D., Yung, Christina K., Zass, Lyndon J., Zaytseva, Ksenia, Zhang, Junjun, Goodhand, Peter, Kerry, Giselle, Brush,Matthew H., North, Kathryn, Birney, Ewan, Bujold, David, Burdett, Tony, Buske, Orion J., Cabili, Moran N., Cameron, Daniel L., Carroll, Robert J., Casas-Silva, Esmeralda, Khor, Seik-Soon, Chakravarty, Debyani, Chaudhari, Bimal P., Chen, Shu Hui, Cherry, J. Michael, Chung, Justina, Cline, Melissa, Clissold, Hayley L., Cook-Deegan, Robert M., Courtot, Melanie, Cunningham, Fiona, Knoppers, Bartha M., Cupak, Miro, Davies, Robert M., Denisko, Danielle, Doerr, Megan J., Dolman, Lena I., Dove, Edward S., Dursi, Lewis Jonathan, Dyke, Stephanie O. M., Eddy, James A., Eilbeck, Karen, Konopko, Melissa A., 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., Kosaki, Kenjiro, 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., Kuba, Martin, Groza, Tudor, Guidry Auvil, Jaime M., Guigó, Roderic, Gupta, Dipayan, Haendel, Melissa A., Hamosh, Ada, Hansen, David P., Hart, Reece K., Hartley, Dean Mitchell, Haussler, David, Lawson, Jonathan, Hendricks-Sturrup, Rachele M., Ho, Calvin W. L., Hobb, Ashley E., Hoffman, Michael M., Hofmann, Oliver M., Holub, Petr, Shujui Hsu, Jacob, Hubaux, Jean-Pierre, Hunt, Sarah E., Husami, Ammar, Leinonen, Rasko, Jacobsen, Julius O., Jamuar, Saumya S., Janes, Elizabeth L., Jeanson, Francis, Jene, Aina, Johns, Amber L., Joly, Yann, Jones, Steven J. M., Kanitz, Alexander, Kato, Kazuto, Li, Stephanie, Keane, Thomas M., Kekesi-Lafrance, Kristina, Beltran, Sergi, Lin, Michael F., Linden, Mikael, Liu, Xianglin, Udara Liyanage, Isuru, López, Javier, Lucassen, Anneke M., Lukowski, Michael, Mann, Alice L., Marshall, John, Mattioni, Michele, Bernick, David, Metke-Jiménez, Alejandro, Middleton, Anna, Milne, Richard J., Molnár-Gábor, Fruzsina, Mulder, Nicola, Muñoz-Torres, Mónica C., Nag, Rishi, Nakagawa, Hidewaki, Nasir, Jamal, Navarro, Arcadi, Bernier, Alexander, Nelson, Tristan H., Niewielska, Ania, Nisselle, Amy, Niu, Jeffrey, Nyrönen, Tommi H., O’Connor, Brian D., Oesterle, Sabine, Ogishima, Soichi, Wang, Vivian Ota, Paglione, Laura A. D., Bonfield, James K., Palumbo, Emilio, Parkinson, Helen E., Philippakis, Anthony A., Pizarro, Angel D., Prlic, Andreas, Rambla, Jordi, Rendon, Augusto, Rider, Renee A., Robinson, Peter N., Rodarmer, Kurt W., Boughtwood, Tiffany F., Lyman Rodríguez, Laura, Rubin, Alan F., Rueda, Manuel, Rushton, Gregory A., Ryan, Rosalyn S., Saunders, Gary I., Schuilenburg, Helen, Schwede, Torsten, Scollen, Serena, Senf, Alexander, Bourque, Guillaume, Sheffield, Nathan C., Skantharajah, Neerjah, Smith, Albert V., Sofia, Heidi J., Spalding, Dylan, Spurdle, Amanda B., Stark, Zornitza, Stein, Lincoln D., Suematsu, Makoto, Tan, Patrick, Bowers, Sarion R., Tedds, Jonathan A., Thomson, Alastair A., Thorogood, Adrian, Tickle, Timothy L., Tokunaga, Katsushi, Törnroos,Juha, Torrents, David, Upchurch, Sean, Valencia, Alfonso, Valls Guimera, Roman, Brookes, Anthony J., Vamathevan, Jessica, Abigail Wexner Research Institute, Academy of Finland, Medical Research Future Fund, BioBank Japan, Canada Foundation for Innovation, Canadian Institutes of Health Research, European Commission, German Research Foundation, Genome Canada, Google, Howard Hughes Medical Institute, Instituto de Salud Carlos III, Japan Agency for Medical Research and Development, Mayo Clinic, Fundación la Caixa, Ministère de l'Économie et de l'Innovation (Québec), Monarch Initiative, National Human Genome Research Institute (US), National University of Singapore, Agency for Science, Technology and Research A*STAR (Singapore), National Health and Medical Research Council (Australia), National Institutes of Health (US), National Institute of General Medical Sciences (US), Swiss Institute of Bioinformatics, State Secretariat for Education, Research and Innovation (Switzerland), Terry Fox Research Institute, Canada Research Chairs, European Molecular Biology Laboratory, Ministry of Research, Innovation and Science (Ontario), Ontario Genomics Institute, Natural Sciences and Engineering Research Council of Canada, Wellcome Trust, National Taiwan University, Rehm, Heidi L., Page, Angela, Smith, Lindsay, Adams, Jeremy B., Alterovitz, Gil, Babb, Lawrence J., Barkley, Maxmillian P., Baudis, Michael, Beauvais, Michael J. S., Beck, Tim, Beckmann, Jacques S., Varma, Susheel, Vears, Danya F., Viner, Coby, Voisin, Craig, Wagner, Alex H., Wallace, Susan E., Walsh, Brian P., Williams, Marc S., Winkler, Eva C., Brudno, Michael, Kelleher, Jerome, Wold, Barbara J., Wood, Grant M., Woolley, J. Patrick, Yamasaki, Chisato, Yates, Andrew D., Yung, Christina K., Zass, Lyndon J., Zaytseva, Ksenia, Zhang, Junjun, Goodhand, Peter, Kerry, Giselle, Brush,Matthew H., North, Kathryn, Birney, Ewan, Bujold, David, Burdett, Tony, Buske, Orion J., Cabili, Moran N., Cameron, Daniel L., Carroll, Robert J., Casas-Silva, Esmeralda, Khor, Seik-Soon, Chakravarty, Debyani, Chaudhari, Bimal P., Chen, Shu Hui, Cherry, J. Michael, Chung, Justina, Cline, Melissa, Clissold, Hayley L., Cook-Deegan, Robert M., Courtot, Melanie, Cunningham, Fiona, Knoppers, Bartha M., Cupak, Miro, Davies, Robert M., Denisko, Danielle, Doerr, Megan J., Dolman, Lena I., Dove, Edward S., Dursi, Lewis Jonathan, Dyke, Stephanie O. M., Eddy, James A., Eilbeck, Karen, Konopko, Melissa A., 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., Kosaki, Kenjiro, 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., Kuba, Martin, Groza, Tudor, Guidry Auvil, Jaime M., Guigó, Roderic, Gupta, Dipayan, Haendel, Melissa A., Hamosh, Ada, Hansen, David P., Hart, Reece K., Hartley, Dean Mitchell, Haussler, David, Lawson, Jonathan, Hendricks-Sturrup, Rachele M., Ho, Calvin W. L., Hobb, Ashley E., Hoffman, Michael M., Hofmann, Oliver M., Holub, Petr, Shujui Hsu, Jacob, Hubaux, Jean-Pierre, Hunt, Sarah E., Husami, Ammar, Leinonen, Rasko, Jacobsen, Julius O., Jamuar, Saumya S., Janes, Elizabeth L., Jeanson, Francis, Jene, Aina, Johns, Amber L., Joly, Yann, Jones, Steven J. M., Kanitz, Alexander, Kato, Kazuto, Li, Stephanie, Keane, Thomas M., Kekesi-Lafrance, Kristina, Beltran, Sergi, Lin, Michael F., Linden, Mikael, Liu, Xianglin, Udara Liyanage, Isuru, López, Javier, Lucassen, Anneke M., Lukowski, Michael, Mann, Alice L., Marshall, John, Mattioni, Michele, Bernick, David, Metke-Jiménez, Alejandro, Middleton, Anna, Milne, Richard J., Molnár-Gábor, Fruzsina, Mulder, Nicola, Muñoz-Torres, Mónica C., Nag, Rishi, Nakagawa, Hidewaki, Nasir, Jamal, Navarro, Arcadi, Bernier, Alexander, Nelson, Tristan H., Niewielska, Ania, Nisselle, Amy, Niu, Jeffrey, Nyrönen, Tommi H., O’Connor, Brian D., Oesterle, Sabine, Ogishima, Soichi, Wang, Vivian Ota, Paglione, Laura A. D., Bonfield, James K., Palumbo, Emilio, Parkinson, Helen E., Philippakis, Anthony A., Pizarro, Angel D., Prlic, Andreas, Rambla, Jordi, Rendon, Augusto, Rider, Renee A., Robinson, Peter N., Rodarmer, Kurt W., Boughtwood, Tiffany F., Lyman Rodríguez, Laura, Rubin, Alan F., Rueda, Manuel, Rushton, Gregory A., Ryan, Rosalyn S., Saunders, Gary I., Schuilenburg, Helen, Schwede, Torsten, Scollen, Serena, Senf, Alexander, Bourque, Guillaume, Sheffield, Nathan C., Skantharajah, Neerjah, Smith, Albert V., Sofia, Heidi J., Spalding, Dylan, Spurdle, Amanda B., Stark, Zornitza, Stein, Lincoln D., Suematsu, Makoto, Tan, Patrick, Bowers, Sarion R., Tedds, Jonathan A., Thomson, Alastair A., Thorogood, Adrian, Tickle, Timothy L., Tokunaga, Katsushi, Törnroos,Juha, Torrents, David, Upchurch, Sean, Valencia, Alfonso, Valls Guimera, Roman, Brookes, Anthony J., and Vamathevan, Jessica

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.

Published
2021

87. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

Author

Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lullmann-Rauch, Renate, Blanz, Judith, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, and Bahlo, Melanie

Subjects
Myoclonus -- Genetic aspects, Myoclonus -- Causes of, DNA microarrays -- Analysis, Membrane proteins -- Health aspects, Membrane proteins -- Research, Genetic research, Biological sciences
Abstract

Array-based molecular strategies are employed to identify the gene responsible for the onset of action myoclonus-renal failure syndrome (AMRF). The myoclonus epilepsy and focal glomerulosclerosis is usually caused due to the deficiency of SCARB2/LIMP-2 protein in humans.

Published
2008

88. Communicating genetic information to family members:analysis of consent forms for diagnostic genomic sequencing

Author

Phillips, Amicia, Niemiec, Emilia, Howard, Heidi Carmen, Kagkelari, Kalliopi, Borry, Pascal, Vears, Danya F., Phillips, Amicia, Niemiec, Emilia, Howard, Heidi Carmen, Kagkelari, Kalliopi, Borry, Pascal, and Vears, Danya F.

Abstract

Communicating results from genomic sequencing to family members can play an essential role allowing access to surveillance, prevention, treatment or prophylactic measures. Yet, many patients struggle with communication of these results and it is unclear to what extent this is discussed during the consent process. We conducted an online systematic search and used content analysis to explore how consent forms for genomic sequencing address communication of genetic information to family members. Our search yielded 68 consent forms from 11 countries. Although 57 forms alluded to the familial nature of results, forms varied in their discussion of the potential familial implications of results. Only 11 addressed communication of genetic information with family members, with differences in who would be responsible for this process. Several forms offered patients options regarding communication, even in countries where national guidelines and legislation allow for the disclosure of results in the absence of patient consent. These findings are concerning because they show how forms may potentially mislead patients and health care professionals about whether communication is permissible in cases where the patient does not consent. We suggest that providers and health care professionals reconsider how consent forms address communicating genetic information to family members.

Published
2020

89. Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia

Author

Milne, Richard, Morley, Katherine I, Howard, Heidi, Niemiec, Emilia, Nicol, Dianne, Critchley, Christine, Prainsack, Barbara, Vears, Danya, Smith, James, Steed, Claire, Bevan, Paul, Atutornu, Jerome, Farley, Lauren, Goodhand, Peter, Thorogood, Adrian, Kleiderman, Erika, Middleton, Anna, Participant Values Work Stream of the Global Alliance for Genomics and Health, Middleton, Anna [0000-0003-3103-8098], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Canada, Genetic Research, Genome, Adolescent, Information Dissemination, Australia, Genomics, Public, Middle Aged, Donation, Trust, United Kingdom, United States, Young Adult, Cross-Sectional Studies, Databases, Genetic, Humans, Data sharing, Female, Survey, Child, health care economics and organizations
Abstract

Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Australia (n = 8967). Participants were most likely to trust their medical doctor and less likely to trust other entities named. Company researchers were least likely to be trusted. Low, Variable and High Trust classes were defined using latent class analysis. Members of the High Trust class were more likely to be under 50 years, male, with children, hold religious beliefs, have personal experience of genetics and be from the USA. They were most likely to be willing to donate their genomic and health data for clinical and research uses. The Low Trust class were less reassured than other respondents by laws preventing exploitation of donated information. Variation in trust, its relation to areas of concern about the use of genomic data and potential of legislation are considered. These findings have relevance for efforts to expand genomic medicine and data sharing beyond those with personal experience of genetics or research participants.

Published
2019

91. ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Author

Boissé Lomax, Lysa, Bayly, Marta A., Hjalgrim, Helle, Møller, Rikke S., Vlaar, Annemarie M., Aaberg, Kari M., Marquardt, Iris, Gandolfo, Luke C., Willemsen, Michèl, Kamsteeg, Erik-Jan, O’Sullivan, John D., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M. A., Said, Ines, Prescott, Trine, Stray-Pedersen, Asbjørg, Rasmussen, Magnhild, Vears, Danya F., Lehesjoki, Anna-Elina, Corbett, Mark A., Bahlo, Melanie, Gecz, Jozef, Dibbens, Leanne M., and Berkovic, Samuel F.

Published
2013
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