Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context Article Swipe
Nikki Fong
,
Jiin Ying Lim
,
Breana Cham
,
Sylvia Kam
,
Chew Yin Jasmine Goh
,
Heming Wei
,
Yuen Ming Tan
,
Hui Jing Ee
,
Leng Kee Ching
,
Wendy Low
,
Jyn Ling Kuan
,
Hai Yang Law
,
Juin Yee Kong
,
Lik Eng Loh
,
Ai Ling Koh
,
Teck Wah Ting
,
Angeline Lai
,
Ivy Ng
,
Weng Khong Lim
,
Ee Shien Tan
,
Ene‐Choo Tan
,
Saumya Shekhar Jamuar
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-384663/v1
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-384663/v1
Objective: Use rapid next-generation sequencing (NGS) to improve our diagnostic yield in critically ill paediatric patients with suspected genetic disorders in the Asian setting. Design: A diagnostic study conducted between April 2018 and January 2019. Methods: Next-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 10 patients who presented with suspected genetic disorders as assessed by their attending physicians. Results: In 4 of the 10 cases (40%), a genetic diagnosis was achieved, with one further case diagnosed on re-analysis of data 2 years later. The median turn-around time (TAT) for results was 9.5 working days (range 5-19 days). Challenges faced during implementation included sample availability, managing parental and primary physician expectations, cost of testing, and bioinformatic resources. Conclusion: RapidSeq is an effective method for diagnosing patients with rare diseases, which aids in shortening the diagnostic odyssey, while allowing clinicians to appropriately tailor management for the underlying disorder, and provide accurate genetic counselling for families. However, challenges such as cost and insurance implications still remain a barrier to more widespread use of genomic testing in the local setting, and continued efforts will be required to optimise RapidSeq for use in paediatric patients in the ICU.
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Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-384663/v1
- https://www.researchsquare.com/article/rs-384663/v1.pdf?c=1631894861000
- OA Status
- green
- References
- 29
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3156453958
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3156453958Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.21203/rs.3.rs-384663/v1Digital Object Identifier
- Title
-
Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian ContextWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-04-07Full publication date if available
- Authors
-
Nikki Fong, Jiin Ying Lim, Breana Cham, Sylvia Kam, Chew Yin Jasmine Goh, Heming Wei, Yuen Ming Tan, Hui Jing Ee, Leng Kee Ching, Wendy Low, Jyn Ling Kuan, Hai Yang Law, Juin Yee Kong, Lik Eng Loh, Ai Ling Koh, Teck Wah Ting, Angeline Lai, Ivy Ng, Weng Khong Lim, Ee Shien Tan, Ene‐Choo Tan, Saumya Shekhar JamuarList of authors in order
- Landing page
-
https://doi.org/10.21203/rs.3.rs-384663/v1Publisher landing page
- PDF URL
-
https://www.researchsquare.com/article/rs-384663/v1.pdf?c=1631894861000Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.researchsquare.com/article/rs-384663/v1.pdf?c=1631894861000Direct OA link when available
- Concepts
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Context (archaeology), Medicine, Exome sequencing, Genetic testing, Critically ill, Genetic diagnosis, DNA sequencing, Intensive care medicine, Diagnostic test, Exome, Pediatrics, Internal medicine, Mutation, Genetics, Gene, Biology, PaleontologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
29Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.provide | 158 |
| abstract_inverted_index.results | 100 |
| abstract_inverted_index.testing | 182 |
| abstract_inverted_index.working | 103 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.However, | 164 |
| abstract_inverted_index.Methods: | 36 |
| abstract_inverted_index.RapidSeq | 128, 195 |
| abstract_inverted_index.Results: | 69 |
| abstract_inverted_index.TruSight | 43 |
| abstract_inverted_index.accurate | 159 |
| abstract_inverted_index.allowing | 147 |
| abstract_inverted_index.assessed | 64 |
| abstract_inverted_index.followed | 50 |
| abstract_inverted_index.included | 112 |
| abstract_inverted_index.managing | 115 |
| abstract_inverted_index.odyssey, | 145 |
| abstract_inverted_index.optimise | 194 |
| abstract_inverted_index.parental | 116 |
| abstract_inverted_index.patients | 16, 56, 135, 200 |
| abstract_inverted_index.required | 192 |
| abstract_inverted_index.setting, | 186 |
| abstract_inverted_index.setting. | 24 |
| abstract_inverted_index.testing, | 123 |
| abstract_inverted_index.achieved, | 81 |
| abstract_inverted_index.attending | 67 |
| abstract_inverted_index.conducted | 29 |
| abstract_inverted_index.continued | 188 |
| abstract_inverted_index.diagnosed | 86 |
| abstract_inverted_index.diagnosis | 79 |
| abstract_inverted_index.diseases, | 138 |
| abstract_inverted_index.disorder, | 156 |
| abstract_inverted_index.disorders | 20, 62 |
| abstract_inverted_index.effective | 131 |
| abstract_inverted_index.families. | 163 |
| abstract_inverted_index.insurance | 170 |
| abstract_inverted_index.performed | 40 |
| abstract_inverted_index.physician | 119 |
| abstract_inverted_index.presented | 58 |
| abstract_inverted_index.suspected | 18, 60 |
| abstract_inverted_index.(targeting | 47 |
| abstract_inverted_index.Challenges | 108 |
| abstract_inverted_index.Objective: | 1 |
| abstract_inverted_index.challenges | 165 |
| abstract_inverted_index.clinicians | 148 |
| abstract_inverted_index.critically | 13 |
| abstract_inverted_index.diagnosing | 134 |
| abstract_inverted_index.diagnostic | 10, 27, 144 |
| abstract_inverted_index.management | 152 |
| abstract_inverted_index.paediatric | 15, 199 |
| abstract_inverted_index.resources. | 126 |
| abstract_inverted_index.sequencing | 5, 38, 53 |
| abstract_inverted_index.shortening | 142 |
| abstract_inverted_index.underlying | 155 |
| abstract_inverted_index.widespread | 178 |
| abstract_inverted_index.Conclusion: | 127 |
| abstract_inverted_index.counselling | 161 |
| abstract_inverted_index.physicians. | 68 |
| abstract_inverted_index.re-analysis | 88 |
| abstract_inverted_index.turn-around | 96 |
| abstract_inverted_index.implications | 171 |
| abstract_inverted_index.appropriately | 150 |
| abstract_inverted_index.availability, | 114 |
| abstract_inverted_index.bioinformatic | 125 |
| abstract_inverted_index.expectations, | 120 |
| abstract_inverted_index.implementation | 111 |
| abstract_inverted_index.Next-generation | 37 |
| abstract_inverted_index.next-generation | 4 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5048867966 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 22 |
| corresponding_institution_ids | https://openalex.org/I4210112252 |
| citation_normalized_percentile.value | 0.04383257 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |