Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
| العنوان: | Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand |
|---|---|
| المؤلفون: | Pattara Wiromrat, Prasit Phowthongkum, Vorasuk Shotelersuk, Wanna Chetruengchai, Chureerat Phokaew, Duangrurdee Wattanasirichaigoon, Chupong Ittiwut, Kitiwan Rojnueangnit, Mongkol Chanvanichtrakool, Ponghatai Boonsimma, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Chutima Phuaksaman, Adjima Assawapitaksakul, Chalurmpon Srichomthong, Wuttichart Kamolvisit, Chulaluck Kuptanon |
| المصدر: | Clinical Genetics. 100:100-105 |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Critical Illness, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, Age groups, Rapid dna, Exome Sequencing, Genetics, Humans, Medicine, Exome, Genetic Testing, Pathology, Molecular, Medical diagnosis, Child, Genetics (clinical), Exome sequencing, Adult patients, business.industry, Critically ill, Infant, Newborn, Infant, Middle Aged, Thailand, 030104 developmental biology, Child, Preschool, Etiology, Female, business, Developed country |
| الوصف: | The use of rapid DNA sequencing technology in severely ill children in developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome of Thai children and adults with unknown etiologies of critical illnesses with the deployment of rapid whole exome sequencing (rWES) in Thailand. We recruited 54 unrelated patients from 11 hospitals throughout Thailand. The median age was 3 months (range, 2 days-55 years) including 47 children and 7 adults with 52% males. The median time from obtaining blood samples to issuing the rWES report was 12 days (range, 5-27 days). A molecular diagnosis was established in 25 patients (46%), resulting in a change in clinical management for 24 patients (44%) resulting in improved clinical outcomes in 16 patients (30%). Four out of seven adult patients (57%) received the molecular diagnosis which led to a change in management. The 25 diagnoses comprised 23 different diseases. Of the 34 identified variants, 15 had never been previously reported. This study suggests that use of rWES as a first-tier investigation tool can provide tremendous benefits in critically ill patients with unknown etiology across age groups in Thailand. |
| تدمد: | 1399-0004 0009-9163 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd22f8e28bb96722dfc07469b29e8610Test https://doi.org/10.1111/cge.13963Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....dd22f8e28bb96722dfc07469b29e8610 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13990004 00099163 |
|---|