Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption
Open accessAbstract
OBJECTIVE: To characterize the views of members of the multi-disciplinary team regarding the implementation of rapid whole-genome sequencing (rWGS) as a first-tier test for critically ill children in diverse children's hospital settings. STUDY DESIGN: Qualitative interviews informed by implementation science theory were conducted with the multidisciplinary patient care teams and hospital leaders at each of the 5 tertiary care children's hospitals involved in a statewide rWGS implementation project. RESULTS: Our analysis revealed 5 key themes regarding the implementation process across the sites: the need for rWGS champions, educational needs and strategies, negotiating decision-making roles and processes, workflows and workarounds, and perceptions about rWGS. From the findings a composite clinical workflow diagram was developed to summarize all of the processes involved in the implementation of the test, and the key areas where implementation practices differed. CONCLUSIONS: These findings provide insights for design of interventions to support adoption, scale-up, and sustainability of rWGS and other novel technologies in neonatal and pediatric critical care settings.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Cites
Using thematic analysis in psychology
Braun, V., & Clarke, V. (2006) · Qualitative Research in Psychology · doi:10.1191/1478088706qp063oa · Cited by 194,414 · see citing works
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Qualitative Data Analysis: A Methods Sourcebook
Miles, M. B., Huberman, A. M., & Saldaña, J. (1988) · Cited by 20,701 · see citing works
Greenhalgh, T., Wherton, J., Papoutsi, C., Lynch, J., Hughes, G., A'Court, C., Hinder, S., Fahy, N., Procter, R., & Shaw, S. (2017) · Journal of Medical Internet Research · doi:10.2196/jmir.8775 · Cited by 2,887 · see citing works
Use of Exome Sequencing for Infants in Intensive Care Units
Meng, L., Pammi, M., Saronwala, A., Magoulas, P. L., Ghazi, A. R., Vetrini, F., Zhang, J., He, W., Dharmadhikari, A. V., Qu, C., et al. (2017) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2017.3438 · Cited by 429 · see citing works
Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354 · see citing works
Self-citationClark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat6177 · Cited by 300 · see citing works
Self-citationDimmock, D., Caylor, S. A., Waldman, B. M., Benson, W., Ashburner, C., Carmichael, J., Carroll, J. M., Cham, E. M., Chowdhury, S., Cleary, J. P., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.008 · Cited by 259 · see citing works
Self-citationAustralian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA · doi:10.1001/jama.2020.7671 · Cited by 239 · see citing works
Dimmock, D., Clark, M. M., Gaughran, M., Cakici, J. A., Caylor, S. A., Clarke, C., Feddock, M., Chowdhury, S., Salz, L., Cheung, C., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.10.003 · Cited by 189 · see citing works
Self-citationMeeting the challenges of implementing rapid genomic testing in acute pediatric care.
Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.37 · Cited by 159 · see citing works
Rapid whole genome sequencing has clinical utility in children in the PICU
Sanford, E. F., Clark, M. M., Farnaes, L., Williams, M. R., Perry, J. C., Ingulli, E. G., Sweeney, N. M., Doshi, A., Gold, J. J., Briggs, B., et al. (2019) · Pediatric Critical Care Medicine · doi:10.1097/pcc.0000000000002056 · Cited by 150 · see citing works
Self-citationMestek, L., Clement, E. M., Jones, W. D., Drury, S., Ocaka, L., Gagunashvili, A. N., Stabej, P. L. Q., Bacchelli, C., Jani, N., Rahman, S., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105396 · Cited by 128 · see citing works
Sweeney, N. M., Nahas, S., Chowdhury, S., Batalov, S., Clark, M. M., Caylor, S. A., Cakici, J. A., Nigro, J. J., Ding, Y., Veeraraghavan, N., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00192-x · Cited by 74 · see citing works
Self-citationMeasurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
Kingsmore, S. F., Henderson, A. J., Owen, M. J., Clark, M. M., Hansen, C., Dimmock, D., Chambers, C., Jelliffe‐Pawlowski, L. L., & Hobbs, C. A. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-00155-8 · Cited by 58 · see citing works
Self-citationStark, Z., Nisselle, A., McClaren, B., Lynch, F., Best, S., Long, J. C., Martyn, M., Patel, C., Schlapbach, L. J., Barnett, C., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0429-y · Cited by 43 · see citing works
Sanderson, S. C., Hill, M. K., Patch, C., Searle, B. A., Lewis, C., & Chitty, L. S. (2019) · BMJ Open · doi:10.1136/bmjopen-2019-029699 · Cited by 43 · see citing works
Neonatologists’ Attitudes About Diagnostic Whole-Genome Sequencing in the NICU
Knapp, B., Decker, C., & Lantos, J. D. (2019) · PEDIATRICS · doi:10.1542/peds.2018-1099j · Cited by 26 · see citing works
Clinical utility of exome sequencing in infantile heart failure
Ritter, A. L., Bedoukian, E. C., Berger, J. H., Copenheaver, D., Gray, C., Krantz, I. D., Izumi, K., Juusola, J., Leonard, J., Lin, K. Y., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0654-3 · Cited by 23 · see citing works
Kingsmore, S. F., Ramchandar, N., James, K. N., Niemi, A., Feigenbaum, A., Ding, Y., Benson, W., Hobbs, C. A., Nahas, S., Chowdhury, S., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a004705 · Cited by 20 · see citing works
Self-citationCuttini, M., Forcella, E., Rodrigues, C., Draper, E. S., Martins, A. F., Laine, A. A., Willars, J., Hasselager, A. B., Maier, R. F., Croci, I., et al. (2020) · Pediatric Research · doi:10.1038/s41390-019-0733-9 · Cited by 19 · see citing works
Deuitch, N. T., Lee, S. S., & Char, D. S. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1182 · Cited by 18 · see citing works
A personal perspective on returning secondary results of clinical genome sequencing
Dimmock, D. (2012) · Genome Medicine · doi:10.1186/gm353 · Cited by 15 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
The Role of Genome Sequencing in Neonatal Intensive Care Units
Kingsmore, S. F., & Cole, F. S. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120921-103442 · Cited by 95 · see citing works
Rapid genomic testing for critically ill children: time to become standard of care?
Stark, Z., & Ellard, S. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00990-y · Cited by 72 · see citing works
“Three studies have used implementation science frameworks to systematically identify barriers and enablers to rapid genomic testing in the paediatric setting, and to identify interventions to facilitate uptake [11, 62, 63].”
BackgroundOlaye, I. M., & Seixas, A. A. (2023) · Journal of Medical Internet Research · doi:10.2196/32962 · Cited by 42 · see citing works
“Although many early-stage digital health technology companies bring exciting innovations to clinical care, there are significant barriers to integrating these technologies into clinical practice and health care systems [13-17].”
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
D’Gama, A. M., del Rosario, M. C., Bresnahan, M., Yu, T. W., Wojcik, M. H., & Agrawal, P. B. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00326-9 · Cited by 39 · see citing works
Shin, H. D., Hamovitch, E., Gatov, E., MacKinnon, M., Samawi, L., Boateng, R., Thorpe, K. E., & Barwick, M. (2025) · PLOS Digital Health · doi:10.1371/journal.pdig.0000418 · Cited by 40 · see citing works
“The Embedding and Adaptation Over Time domain was often omitted, but studies incorporated this concept into other domains (e.g., whether the technology will require future iterations [27], whether the regulatory context is expected to change [41]).”
East, K. M., Cochran, M. E., Kelley, W. V., Greve, V., Finnila, C. R., Coleman, T. F., Jennings, M., Alexander, L., Rahn, E. J., Danila, M. I., et al. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12030405 · Cited by 33 · see citing works
“More than half of respondents selected a lack of provider knowledge and training as a barrier to genome sequencing implementation, a finding in line with other publications [35].”
ResultBreaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer
Bupp, C. P., Ames, E. G., Arenchild, M., Caylor, S. A., Dimmock, D., Fakhoury, J., Karna, P., Lehman, A., Meghea, C. I., Misra, V. K., et al. (2023) · Children · doi:10.3390/children10010106 · Cited by 30 · see citing works
“Qualitative analysis of the implementation process revealed five key themes: the need for rWGS champions; clinician educational needs and strategies; negotiating decision-making roles and processes; workflows and workarounds; and impact of healthcare worker perceptions about rWGS [11].”
MethodSelf-citationLumaka, A. Z., Fasquelle, C., Debray, F., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., Vaessen, S., Viellevoye, R., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24044003 · Cited by 25 · see citing works
“The Baby Bear project in California (USA) recruited 184 infants over eighteen months, corresponding to two patients per hospital per month [19].”
BackgroundSeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
Wenger, T. L., Scott, A. A., Kruidenier, L., Sikes, M. C., Keefe, A., Buckingham, K. J., Marvin, C. T., Shively, K. M., Bacus, T. J., Sommerland, O. M., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.003 · Cited by 24 · see citing works
Provision and availability of genomic medicine services in Level IV neonatal intensive care units
Wojcik, M. H., Callahan, K. P., Antoniou, A. A., del Rosario, M. C., Brunelli, L., ElHassan, N. O., Gogcu, S., Murthy, K., Rumpel, J. A., Wambach, J., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100926 · Cited by 17 · see citing works
A model to implement genomic medicine in the neonatal intensive care unit
Wojcik, M. H., D’Gama, A. M., & Agrawal, P. B. (2022) · Journal of Perinatology · doi:10.1038/s41372-022-01428-z · Cited by 15 · see citing works
“Prior research studies of rapid genomic sequencing in the NICU have variably acknowledged implementation challenges outside of the research setting [2, 15].”
BackgroundGenomic medicine in neonatal care: progress and challenges
D’Gama, A. M., & Agrawal, P. B. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01464-z · Cited by 14 · see citing works
“…used the Non-adoption, Abandonment, Scale-up, Spread, and Sustainability technology adoption framework to interview stakeholders involved in Project Baby Bear, a payor-funded study of implementing rapid genomic testing for critically ill infants at fi ve centers in California [12, 68, 69].”
MethodVears, D. F., Lynch, F., Nisselle, A. E., Ayres, S., & Stark, Z. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01477-8 · Cited by 14 · see citing works
How neonatologists use genetic testing: findings from a national survey
Callahan, K. P., Flibotte, J. J., Skraban, C. M., Wild, K. T., Joffe, S., Munson, D., & Feudtner, C. (2021) · Journal of Perinatology · doi:10.1038/s41372-021-01283-4 · Cited by 14 · see citing works
Chad, L., Anderson, J., Cagliero, D., Hayeems, R. Z., Ly, L. G., & Szuto, A. (2022) · Hospital Pediatrics · doi:10.1542/hpeds.2022-006654 · Cited by 11 · see citing works
Feddema, J. J., Fernald, K., Keijser, B. J. F., Kieboom, J., & van de Burgwal, L. (2024) · Diagnostics · doi:10.3390/diagnostics14171845 · Cited by 10 · see citing works
“Such technology adoption research requires a more qualitative approach, especially relating to health policy and healthcare settings [49,50].”
BackgroundHealthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care
Franck, L. S., Scheurer‐Monaghan, A., Bupp, C. P., Fakhoury, J., Hoffmann, T. J., Deshpandey, M., Arenchild, M., & Dimmock, D. (2022) · Children · doi:10.3390/children9030357 · Cited by 9 · see citing works
“The items exploring experience with rWGS and Project Baby Deer implementation were informed by our prior qualitative research [17], and views on rWGS implementation and wider adoption of rWGS were adapted from existing scales [19–21].”
InfluentialSelf-citationFranck, L. S., Dimmock, D., Hobbs, C. A., & Kingsmore, S. F. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.08.006 · Cited by 10 · see citing works
Self-citationSymecko, H., Schnoll, R. A., Beidas, R. S., Bekelman, J. E., Blumenthal, D., Bauer, A., Gabriel, P. E., Boisseau, L., Doucette, A. G., Powers, J. M., et al. (2023) · Implementation Science · doi:10.1186/s13012-023-01308-w · Cited by 9 · see citing works
“Also, they report barriers related to a lack of awareness or training, cost concerns, and busy schedules [33, 35–39], resulting in uncertainty and lower priority for referring patients to genetic counseling.”
BackgroundD’Gama, A. M., & Agrawal, P. B. (2023) · Journal of Perinatology · doi:10.1038/s41372-023-01630-7 · Cited by 8 · see citing works
“As suggested by early implementation studies [41, 42], a NICU “GS champion”—for example, a NGP who has received basic education in genomic medicine and is passionate about GS—can assist in identifying appropriate infants for GS and consenting parents.”
Kim, S. J., Pistawka, C. A., Langlois, S., Osiovich, H. C., Virani, A., Kitchin, V., Study, G., & Elliott, A. M. (2023) · Clinical Genetics · doi:10.1111/cge.14446 · Cited by 8 · see citing works
Fishler, K. P., Euteneuer, J. C., & Brunelli, L. (2022) · International Journal of Neonatal Screening · doi:10.3390/ijns8010022 · Cited by 8 · see citing works
“Barriers to the implementation of genomic sequencing in the NICU include additional educational needs of non-genetics providers, clarification of professional roles for neonatal and genetics providers, lack of efficient workflows to manage logistics, concerns regarding the complexity of the information that could be l…”
BackgroundLynch, F., Nisselle, A. E., Stark, Z., Gaff, C., & McClaren, B. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01168-w · Cited by 8 · see citing works
“As rGS becomes more widely used and is initiated by a variety of medical specialists [21, 22], further consideration should be given to how and when to connect families with genetics health professionals.”
BackgroundBhatia, S., Pal, S., Kulshrestha, S., Gupta, D., Soni, A., Saxena, R., Bijarnia‐Mahay, S., Verma, I. C., & Puri, R. D. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01569-z · Cited by 8 · see citing works
Benefits and barriers to broad implementation of genomic sequencing in the NICU
Goldin, M. R., Ruderfer, D. M., Bick, A. G., Roden, D. M., Schuler, B. A., & Robinson, J. R. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.04.007 · Cited by 9 · see citing works
Coleman, T. F., Pugh, J., Kelley, W. V., East, K. M., Greve, V., Finnila, C. R., Henson, A., Korf, B. R., Barsh, G. S., Cooper, G. M., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101198 · Cited by 7 · see citing works
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction
Bonser, D., Jenkins, S. M., Palmquist, R. N., Guthery, S. L., Bonkowsky, J. L., & Jaramillo, C. (2023) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2023.113534 · Cited by 6 · see citing works
“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs
D’Gama, A. M., Wojcik, M. H., Hills, S., Douglas, J., Pb, A., Allcroft, T. J., Bhandari, V., Brownstein, C. A., Cantu, L., D’Gama, A. M., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101177 · Cited by 6 · see citing works
Kobayashi, E. S., & Dimmock, D. (2022) · Human Mutation · doi:10.1002/humu.24422 · Cited by 6 · see citing works
“…vary in their methodology depending on the published study: some are deter- mined by chart review, some by provider and/or family survey, and others by consensus method (D. Dimmock et al., 2021; D. P. Dimmock et al., 2020; E. F. Sanford et al., 2019; Farnaes et al., 2018; Franck et al., 2021).”
MethodSelf-citationMoore, C., Arenchild, M., Waldman, B. M., Rego, S. P., Kingsmore, S. F., Field, J., Barnhart, J., Nee, S., & Nofsinger, R. R. (2025) · The Journal of Applied Laboratory Medicine · doi:10.1093/jalm/jfaf045 · Cited by 5 · see citing works
“…of availability of genetics staff (including genetic counselors and medical geneticists) presents a challenge to institutions that may have clinically qualified patients but perceive that they lack the expertise to understand and interpret results or obtain proper consent from families (34, 35).”
Self-citationRaper, A. C., Weathers, B., Drivas, T. G., Ellis, C. A., Kripke, C. M., Oyer, R. A., OWENS, A. T., Verma, A., Wileyto, E. P., Wollack, C., et al. (2024) · Implementation Science · doi:10.1186/s13012-024-01385-5 · Cited by 5 · see citing works
“…implementation of genomics in routine care including: lack of knowledge about the conditions for which genetic testing is indicated, accompanying medical management implications, how to proceed if there is recognition that testing is needed, and concerns about cost and patient reaction [29, 32–35].”
BackgroundCaillot, C., Javouhey, É., Haÿs, S., Gouy, E., Monin, P., Lesca, G., Sanlaville, D., & Chatron, N. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01869-y · Cited by 6 · see citing works
“After reception of the urGS results, the majority would cancel imaging test orders (60% [22/37]) or surgery (51% [19/37]; Fig.”
Reiley, J., Botas, P., Miller, C. E., Zhao, J., Jenkins, S. M., Best, H. D., Grubb, P. H., Mao, R., Isla, J., & Brunelli, L. (2023) · Children · doi:10.3390/children10060991 · Cited by 5 · see citing works
“Nevertheless, several barriers to the universal adoption of these technologies remain, including the education of frontline medical professionals, high costs, and complex data analysis processes [10,11].”
BackgroundSchnoll, R. A., Bekelman, J. E., Blumenthal, D. M., Asch, D. A., Buttenheim, A. M., Chaiyachati, K. H., Domchek, S. M., Fayanju, O. M., Gabriel, P. E., Jenssen, B. P., et al. (2024) · Journal of Clinical and Translational Science · doi:10.1017/cts.2024.554 · Cited by 4 · see citing works
Owen, M. J., Batalov, S., Ellsworth, K. A., Wright, M. S., Breeding, S., Hugh, K., Kingsmore, S. F., & Ding, Y. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-2950-5_12 · Cited by 3 · see citing works
Rapid whole genome sequencing in newborn screening for metabolic diseases
Zheng, J., & Yang, X. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1686738 · Cited by 2 · see citing works
Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
Huang, Z., & Zhou, W. (2026) · Pediatric Investigation · doi:10.1002/ped4.70030 · Cited by 2 · see citing works
“53,57 Recent findings from the GUARDIAN study, published in JAMA , highlighted the ability of automated analytic pipelines to accelerate the generation of genetic diagnostic reports.”
Fishler, K. P., Steber, H. S., Brunelli, L., & Shope, R. J. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63318 · Cited by 2 · see citing works
Piers, L., Wainstein, T., Pelligra, G., Osiovich, H. C., Study, G., & Elliott, A. M. (2024) · Children · doi:10.3390/children11080910 · Cited by 2 · see citing works
“…associated with the clinical implementation of rGWS. Franck et al. (2021) previously conducted a study exploring the perspectives of members of a multidisciplinary team on the use of rGWS to care for critically ill children in five Pediatric Intensive Care Units (PICUs) in California [20].”
BackgroundResultInfluentialA machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit
Juarez, E. F., Peterson, B. D., Kobayashi, E. S., Gilmer, S., Tobin, L. E., Schultz, B., Lenberg, J. L., Carroll, J. M., Bai-Tong, S. S., Sweeney, N. M., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01458-9 · Cited by 2 · see citing works
Self-citationScheurer‐Monaghan, A., Fakhoury, J., Bupp, C. P., Hicks, M. A., Nolan, D. A., O'Shea, J. O., Hoffmann, T. J., Mehra, R., & Franck, L. S. (2025) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2025.114571 · Cited by 2 · see citing works
Self-citationSources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children
Lantos, J. D. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.06.042 · Cited by 2 · see citing works
Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU
D’Gama, A. M., Hu, R., del Rosario, M. C., Hills, S., Park, H. J., Mehra, A.-T., Tannenbaum, L., Morton, S. U., Agrawal, P., & Wojcik, M. H. (2026) · Journal of Perinatology · doi:10.1038/s41372-025-02541-5 · Cited by 1 · see citing works
Neonatal Critical Care: Looking Toward the Future
Fang, J. L., Kaczor, M. W., Thompson, W. S., & Collura, C. A. (2026) · Pediatric Annals · doi:10.3928/19382359-20260730-01 · Cited by 1 · see citing works
Nurchis, M. C., Raspolini, G. M., Alizadeh, A. H., Altamura, G., Radio, F. C., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Journal of Personalized Medicine · doi:10.3390/jpm13060899 · Cited by 1 · see citing works
“Previous studies explored other elements of WGS in children, such as perceived knowledge and attitudes of healthcare professionals towards its inclusion in clinical practice [6], insights for developing adequate interventions leading to its implementation in the pediatric/neonatal critical care [7], concerns and opini…”
BackgroundPreparedness and training of genetic counselors practicing in inpatient settings
Mancl, N., Myers, M. F., Miller, E. M., Jackson, F., & Widmeyer, K. M. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1754 · Cited by 1 · see citing works
“…in explaining results to families as barriers to the use of genetic testing in the inpatient setting and have expressed a desire for support from genetic counselors, especially for consenting patients and results interpretation (Deuitch et al., 2020 ; Fishler et al., 2023 ; Franck et al., 2021 ).”
BackgroundJuarez, E. F., Peterson, B. D., Kobayashi, E. S., Gilmer, S., Tobin, L. E., Schultz, B., Lenberg, J. L., Carroll, J. M., Bai-Tong, S. S., Sweeney, N. M., et al. (2024) · medRxiv · doi:10.1101/2024.07.05.24310008 · Cited by 1 · see citing works
Self-citation(2021) · The Journal of Pediatrics · doi:10.1016/s0022-3476(21)00799-x
Lantos, J. D. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.08.005
Genomics screening of neonates
Kobayashi, E. S., & Hobbs, C. A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00004-6
Self-citationNew approaches to genetic counseling
East, K. M., & Coleman, T. F. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00010-1
Raper, A. C., Weathers, B., Drivas, T. G., Ellis, C. A., Kripke, C. M., Oyer, R. A., Owens, A. T., Verma, A., Wileyto, P., Wollack, C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26786034
Raper, A. C., Weathers, B., Drivas, T. G., Ellis, C. A., Kripke, C. M., Oyer, R. A., Owens, A. T., Verma, A., Wileyto, P., Wollack, C., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26785986
Omics technologies for diagnosis of infectious diseases: A review
Delegkou, M., Spyridakis, E., Zoumi, C., Galanis, A., Panagopoulou, A., & Karamalis, C. (2026) · Journal of Contemporary Studies in Epidemiology and Public Health · doi:10.29333/jconseph/18118
“Finally, the lack of knowledge present in medical professionals acts as a barrier to the implementation of genomics and highlights the need for proper education through seminars, case reviews and peer-to-peer learning [42].”
Rapid genomic sequencing in the NICU: Who to test and why
Ali, S. S., Newsam, M. T., & Agrawal, P. B. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02207-6
Hospital-wide implementation of inpatient first-tier rapid genome sequencing
Wenger, T. L., Scott, A. A., Kruidenier, L., Hayek, J. C., Beck, A. E., Chow, P. M., Glass, I. A., Adam, M. P., Bennett, J. T., Dipple, K. M., et al. (2026) · Genetics in Medicine · doi:10.1016/j.gim.2026.102685
Taber, P. A., Solorzano, C. M., Weaver, L., Simek, K. A., Palmquist, R. N., Butler, J., Ellsworth, T., Bolyard, M. L., Tristani‐Firouzi, M., Estabrooks, P., et al. (2026) · medRxiv · doi:10.64898/2026.09.28.26363665
Kim, A., Newton, J., Keogh, L. A., & Nisselle, A. E. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02245-0
- Authors
- Franck, L. S., Kriz, R. M., Rego, S., Garman, K., Hobbs, C., & Dimmock, D.
- Affiliations
- University of California, San Francisco (US)
- Rady Children's Institute for Genomic Medicine (US)
- Rady Children's Hospital-San Diego (US)
- Corresponding author
- Franck, Linda S.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2021-10
- Volume
- 237
- Pages
- 237-243.e2
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W3164028362
- Cited by
- 59
- References
- 23
- Citations by year
- 2026: 8 · 2025: 9 · 2024: 10 · 2023: 15 · 2022: 11 · 2021: 6
- FWCI
- 11.80
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Pediatrics (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Health Professions › General Health Professions › Health Policy Implementation Science
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
- Keywords
- rapid whole genome sequencing, intensive care, pediatric intensive care, neonatal intensive care, technology adoption, implementation barriers and facilitators, multidisciplinary team, clinical workflow, children's hospitals, implementation champions
- MeSH terms
- Child, Critical Care, Hospitals, Pediatric, Humans, Infant, Newborn, Technology, Rare Diseases, Qualitative Research
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
