Literature DB >> 31148592

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Zornitza Stark1,2,3, Amy Nisselle4,5,6, Belinda McClaren4,5,6, Fiona Lynch4,5,6, Stephanie Best7, Janet C Long7, Melissa Martyn5,6,8, Chirag Patel9, Luregn J Schlapbach10,11,12,13, Christopher Barnett14, Christiane Theda5,6,15, Jason Pinner16, Marcel E Dinger17,18,19, Sebastian Lunke4,5,6, Clara L Gaff4,5,8,20.   

Abstract

We investigated the attitudes of intensive care physicians and genetics professionals towards rapid genomic testing in neonatal and paediatric intensive care units (NICU/PICU). A mixed-methods study (surveys and interviews) was conducted at 13 Australian hospitals and three laboratories involved in multi-center implementation of rapid genomic testing. We investigated experience and confidence with genomic tests among intensivists; perceived usefulness of genomic diagnostic results; preferences for service delivery models; and implementation readiness among genetic services. The overall survey response rate was 59%, 47% for intensivists (80/170), and 75% (91/121) for genetics professionals. Intensivists reported moderate confidence with microarray tests and lower confidence with genomic tests. The majority of intensivists (77%), clinical geneticists (87%) and genetic counsellors (82%) favoured a clinical genetics-led service delivery model of genomic testing. Perceived clinical utility of genomic results was lower in the intensivist group compared to the genetics professionals group (20 v 50%, p < 0.001). Interviews (n = 6 intensivists; n = 11 genetic counselors) demonstrated support for implementation, with concerns relating to implementation environment and organizational readiness. Overall, our findings support initial implementation of genomic testing in NICU/PICU as part of an interdisciplinary service delivery model that promotes gradual adoption of genomics by the intensive care workforce while ensuring safety, sustainability, and efficiency.

Mesh:

Year:  2019        PMID: 31148592      PMCID: PMC6777457          DOI: 10.1038/s41431-019-0429-y

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  28 in total

1.  Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics.

Authors:  Liza-Marie Johnson; Jessica M Valdez; Emily A Quinn; April D Sykes; Rose B McGee; Regina Nuccio; Stacy J Hines-Dowell; Justin N Baker; Chimene Kesserwan; Kim E Nichols; Belinda N Mandrell
Journal:  Cancer       Date:  2017-02-13       Impact factor: 6.860

2.  Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Authors:  Laurel K Willig; Josh E Petrikin; Laurie D Smith; Carol J Saunders; Isabelle Thiffault; Neil A Miller; Sarah E Soden; Julie A Cakici; Suzanne M Herd; Greyson Twist; Aaron Noll; Mitchell Creed; Patria M Alba; Shannon L Carpenter; Mark A Clements; Ryan T Fischer; J Allyson Hays; Howard Kilbride; Ryan J McDonough; Jamie L Rosterman; Sarah L Tsai; Lee Zellmer; Emily G Farrow; Stephen F Kingsmore
Journal:  Lancet Respir Med       Date:  2015-04-27       Impact factor: 30.700

3.  Physicians' preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system.

Authors:  Christina G Selkirk; Scott M Weissman; Andy Anderson; Peter J Hulick
Journal:  Genet Test Mol Biomarkers       Date:  2013-02-07

4.  Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science.

Authors:  Laura J Damschroder; David C Aron; Rosalind E Keith; Susan R Kirsh; Jeffery A Alexander; Julie C Lowery
Journal:  Implement Sci       Date:  2009-08-07       Impact factor: 7.327

Review 5.  Rapid whole genome sequencing and precision neonatology.

Authors:  Joshua E Petrikin; Laurel K Willig; Laurie D Smith; Stephen F Kingsmore
Journal:  Semin Perinatol       Date:  2015-10-29       Impact factor: 3.300

6.  Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease.

Authors:  Danton S Char; Sandra Soo-Jin Lee; David Magnus; Mildred Cho
Journal:  Genet Med       Date:  2018-03-01       Impact factor: 8.822

7.  Knowledge, attitudes, and values among physicians working with clinical genomics: a survey of medical oncologists.

Authors:  Peter Chow-White; Dung Ha; Janessa Laskin
Journal:  Hum Resour Health       Date:  2017-06-27

8.  The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Authors:  Josh E Petrikin; Julie A Cakici; Michelle M Clark; Laurel K Willig; Nathaly M Sweeney; Emily G Farrow; Carol J Saunders; Isabelle Thiffault; Neil A Miller; Lee Zellmer; Suzanne M Herd; Anne M Holmes; Serge Batalov; Narayanan Veeraraghavan; Laurie D Smith; David P Dimmock; J Steven Leeder; Stephen F Kingsmore
Journal:  NPJ Genom Med       Date:  2018-02-09       Impact factor: 8.617

9.  Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

Authors:  Lauge Farnaes; Amber Hildreth; Nathaly M Sweeney; Michelle M Clark; Shimul Chowdhury; Shareef Nahas; Julie A Cakici; Wendy Benson; Robert H Kaplan; Richard Kronick; Matthew N Bainbridge; Jennifer Friedman; Jeffrey J Gold; Yan Ding; Narayanan Veeraraghavan; David Dimmock; Stephen F Kingsmore
Journal:  NPJ Genom Med       Date:  2018-04-04       Impact factor: 8.617

10.  Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Authors:  Jan M Friedman; Yvonne Bombard; Martina C Cornel; Conrad V Fernandez; Anne K Junker; Sharon E Plon; Zornitza Stark; Bartha Maria Knoppers
Journal:  Genet Med       Date:  2018-06-12       Impact factor: 8.822

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  14 in total

1.  Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.

Authors:  Natalie Deuitch; Sandra Soo-Jin Lee; Danton Char
Journal:  J Genet Couns       Date:  2019-11-07       Impact factor: 2.537

2.  Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors:  Sebastian Lunke; Stefanie Eggers; Meredith Wilson; Chirag Patel; Christopher P Barnett; Jason Pinner; Sarah A Sandaradura; Michael F Buckley; Emma I Krzesinski; Michelle G de Silva; Gemma R Brett; Kirsten Boggs; David Mowat; Edwin P Kirk; Lesley C Adès; Lauren S Akesson; David J Amor; Samantha Ayres; Anne Baxendale; Sarah Borrie; Alessandra Bray; Natasha J Brown; Cheng Yee Chan; Belinda Chong; Corrina Cliffe; Martin B Delatycki; Matthew Edwards; George Elakis; Michael C Fahey; Andrew Fennell; Lindsay Fowles; Lyndon Gallacher; Megan Higgins; Katherine B Howell; Lauren Hunt; Matthew F Hunter; Kristi J Jones; Sarah King; Smitha Kumble; Sarah Lang; Maelle Le Moing; Alan Ma; Dean Phelan; Michael C J Quinn; Anna Richards; Christopher M Richmond; Jessica Riseley; Jonathan Rodgers; Rani Sachdev; Simon Sadedin; Luregn J Schlapbach; Janine Smith; Amanda Springer; Natalie B Tan; Tiong Y Tan; Suzanna L Temple; Christiane Theda; Anand Vasudevan; Susan M White; Alison Yeung; Ying Zhu; Melissa Martyn; Stephanie Best; Tony Roscioli; John Christodoulou; Zornitza Stark
Journal:  JAMA       Date:  2020-06-23       Impact factor: 56.272

Review 3.  Rapid genomic testing for critically ill children: time to become standard of care?

Authors:  Zornitza Stark; Sian Ellard
Journal:  Eur J Hum Genet       Date:  2021-11-08       Impact factor: 4.246

4.  Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.

Authors:  Sara Cherny; Rachael Olson; Kathryn Chiodo; Lauren C Balmert; Gregory Webster
Journal:  J Genet Couns       Date:  2020-07-24       Impact factor: 2.537

5.  Parents' experiences of decision making for rapid genomic sequencing in intensive care.

Authors:  Fiona Lynch; Amy Nisselle; Zornitza Stark; Clara L Gaff; Belinda McClaren
Journal:  Eur J Hum Genet       Date:  2021-08-23       Impact factor: 4.246

6.  Measuring organizational readiness for implementing change (ORIC) in a new midwifery model of care in rural South Australia.

Authors:  Pamela Adelson; Rachael Yates; Julie-Anne Fleet; Lois McKellar
Journal:  BMC Health Serv Res       Date:  2021-04-20       Impact factor: 2.655

7.  Knowledge, Attitudes, and Perceived Barriers toward Genetic Testing and Pharmacogenomics among Healthcare Workers in the United Arab Emirates: A Cross-Sectional Study.

Authors:  Azhar T Rahma; Mahanna Elsheik; Bassam R Ali; Iffat Elbarazi; George P Patrinos; Luai A Ahmed; Fatma Al Maskari
Journal:  J Pers Med       Date:  2020-11-09

8.  Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning.

Authors:  Belinda J McClaren; Erin Crellin; Monika Janinski; Amy E Nisselle; Larissa Ng; Sylvia A Metcalfe; Clara L Gaff
Journal:  Front Genet       Date:  2020-03-03       Impact factor: 4.599

9.  Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education.

Authors:  Belinda J McClaren; Emily A King; Erin Crellin; Clara Gaff; Sylvia A Metcalfe; Amy Nisselle
Journal:  Front Genet       Date:  2020-03-03       Impact factor: 4.599

10.  Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.

Authors:  Kushani Jayasinghe; Catherine Quinlan; Andrew J Mallett; Peter G Kerr; Belinda McClaren; Amy Nisselle; Amali Mallawaarachchi; Kevan R Polkinghorne; Chirag Patel; Stephanie Best; Zornitza Stark
Journal:  Kidney Int Rep       Date:  2020-11-10
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