Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Abstract The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact. To address this, we enrolled 232 adult probands with undiagnosed conditions, utilizing bioinformatics tools for genetic analysis. Alongside exome and genome sequencing...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-11-01
|
| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-024-00449-1 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846147575646781440 |
|---|---|
| author | Jong Hyeon Ahn Jihoon G. Yoon Jaeso Cho Seungbok Lee Sheehyun Kim Man Jin Kim Soo Yeon Kim Soon-Tae Lee Kon Chu Sang Kun Lee Han-Joon Kim Jinyoung Youn Ja-Hyun Jang Jong-Hee Chae Jangsup Moon Jin Whan Cho |
| author_facet | Jong Hyeon Ahn Jihoon G. Yoon Jaeso Cho Seungbok Lee Sheehyun Kim Man Jin Kim Soo Yeon Kim Soon-Tae Lee Kon Chu Sang Kun Lee Han-Joon Kim Jinyoung Youn Ja-Hyun Jang Jong-Hee Chae Jangsup Moon Jin Whan Cho |
| author_sort | Jong Hyeon Ahn |
| collection | DOAJ |
| description | Abstract The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact. To address this, we enrolled 232 adult probands with undiagnosed conditions, utilizing bioinformatics tools for genetic analysis. Alongside exome and genome sequencing, repeat-primed PCR and Cas9-mediated nanopore sequencing were applied to suspected short tandem repeat disorders. Probands were classified into probable genetic (n = 128) or uncertain (n = 104) origins. The study found genetic causes in 66 individuals (28.4%) and non-genetic causes in 12 (5.2%), with a longer diagnostic journey for those in the probable genetic group or with pediatric symptom onset, emphasizing the need for increased efforts in these populations. Genetic diagnoses facilitated effective surveillance, cascade screening, drug repurposing, and pregnancy planning. This study demonstrates that integrating sequencing technologies improves diagnostic accuracy, may shorten the time to diagnosis, and enhances personalized management for adults with undiagnosed diseases. |
| format | Article |
| id | doaj-art-49b5f7d7d62c42b19e87bd0c4acb8308 |
| institution | Kabale University |
| issn | 2056-7944 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj-art-49b5f7d7d62c42b19e87bd0c4acb83082024-12-01T12:38:13ZengNature Portfolionpj Genomic Medicine2056-79442024-11-019111210.1038/s41525-024-00449-1Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseasesJong Hyeon Ahn0Jihoon G. Yoon1Jaeso Cho2Seungbok Lee3Sheehyun Kim4Man Jin Kim5Soo Yeon Kim6Soon-Tae Lee7Kon Chu8Sang Kun Lee9Han-Joon Kim10Jinyoung Youn11Ja-Hyun Jang12Jong-Hee Chae13Jangsup Moon14Jin Whan Cho15Department of Neurology, Samsung Medical Centre, Sungkyunkwan University School of MedicineDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Neurology, Seoul National University HospitalDepartment of Neurology, Seoul National University HospitalDepartment of Neurology, Seoul National University HospitalDepartment of Neurology, Seoul National University HospitalDepartment of Neurology, Samsung Medical Centre, Sungkyunkwan University School of MedicineDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of MedicineDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Genomic Medicine, Seoul National University HospitalDepartment of Neurology, Samsung Medical Centre, Sungkyunkwan University School of MedicineAbstract The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact. To address this, we enrolled 232 adult probands with undiagnosed conditions, utilizing bioinformatics tools for genetic analysis. Alongside exome and genome sequencing, repeat-primed PCR and Cas9-mediated nanopore sequencing were applied to suspected short tandem repeat disorders. Probands were classified into probable genetic (n = 128) or uncertain (n = 104) origins. The study found genetic causes in 66 individuals (28.4%) and non-genetic causes in 12 (5.2%), with a longer diagnostic journey for those in the probable genetic group or with pediatric symptom onset, emphasizing the need for increased efforts in these populations. Genetic diagnoses facilitated effective surveillance, cascade screening, drug repurposing, and pregnancy planning. This study demonstrates that integrating sequencing technologies improves diagnostic accuracy, may shorten the time to diagnosis, and enhances personalized management for adults with undiagnosed diseases.https://doi.org/10.1038/s41525-024-00449-1 |
| spellingShingle | Jong Hyeon Ahn Jihoon G. Yoon Jaeso Cho Seungbok Lee Sheehyun Kim Man Jin Kim Soo Yeon Kim Soon-Tae Lee Kon Chu Sang Kun Lee Han-Joon Kim Jinyoung Youn Ja-Hyun Jang Jong-Hee Chae Jangsup Moon Jin Whan Cho Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases npj Genomic Medicine |
| title | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases |
| title_full | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases |
| title_fullStr | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases |
| title_full_unstemmed | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases |
| title_short | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases |
| title_sort | implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases |
| url | https://doi.org/10.1038/s41525-024-00449-1 |
| work_keys_str_mv | AT jonghyeonahn implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jihoongyoon implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jaesocho implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT seungboklee implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT sheehyunkim implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT manjinkim implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT sooyeonkim implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT soontaelee implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT konchu implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT sangkunlee implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT hanjoonkim implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jinyoungyoun implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jahyunjang implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jongheechae implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jangsupmoon implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases AT jinwhancho implementinggenomicmedicineinclinicalpracticeforadultswithundiagnosedrarediseases |