scholarly journals PIH27 DIAGNOSING NEWBORNS WITH SUSPECTED SEVERE MITOCHONDRIAL DISORDERS: A COST-EFFECTIVENESS STUDY COMPARING EARLY WHOLE EXOME SEQUENCING TO STANDARD OF CARE

2020 ◽  
Vol 23 ◽  
pp. S156
Author(s):  
S. Crawford ◽  
C. Gong ◽  
L.M. Randolph ◽  
L. Yieh ◽  
J.W. Hay
Keyword(s):  
Cost Effectiveness ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Standard Of Care ◽  
Mitochondrial Disorders ◽  
Effectiveness Study ◽  
Whole Exome ◽  
Cost Effectiveness Study

Cost Effectiveness of Whole Exome Sequencing for Children with Developmental Delay in a Developing Country: A Study from Jordan

2021 ◽  
Author(s):  
Amira Masri ◽  
Hanan Hamamy
Keyword(s):  
Cost Effectiveness ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Developing Country ◽  
Whole Exome Sequencing ◽  
Financial Burden ◽  
Indirect Costs ◽  
Cost Effective ◽  
Whole Exome ◽  
The Cost

AbstractThis retrospective study was aiming to determine the cost effectiveness of whole exome sequencing (WES) in the diagnosis of children with developmental delay in a developing country. In this study of 40 patients, the average cost of traditional investigations and indirect costs related to rehabilitation and medications per child were USD847 and 6,585 per year, respectively. With a current cost for WES of approximately USD1,200, we concluded that performing WES could be cost effective, even in countries with limited resources, as it provides the option for genetic counseling in affected families with an ultimate reduction of overall financial burden to both parents and health care system.

scholarly journals Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

2017 ◽  
Vol 19 (8) ◽  
pp. 867-874 ◽  
Author(s):  
Zornitza Stark ◽  
Deborah Schofield ◽  
Khurshid Alam ◽  
William Wilson ◽  
Nessie Mupfeki ◽  
...  
Keyword(s):  
Cost Effectiveness ◽  
Usual Care ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Prospective Comparison ◽  
Whole Exome ◽  
Early Use ◽  
The Cost

scholarly journals UTILIZATION OF WHOLE EXOME SEQUENCING DATA TO IDENTIFY CLINICALLY RELEVANT PHARMACOGENOMIC VARIANTS IN INFLAMMATORY BOWEL DISEASE

2021 ◽  
Vol 27 (Supplement_1) ◽  
pp. S32-S32
Author(s):  
Daniel Mulder ◽  
Sam Khalouei ◽  
Neil Warner ◽  
Claudia Gonzaga-Jauregui ◽  
Peter Church ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Care ◽  
Family Members ◽  
Standard Of Care ◽  
Sequencing Data ◽  
Whole Exome ◽  
Variant Filtering ◽  
Increased Risk ◽  
Whole Exome Sequencing Data

Abstract Objectives We hypothesized that variants within clinically relevant pharmacogenes could be identified using a whole exome sequencing (WES) dataset derived from a cohort of over 1000 IBD patients. Methods Pediatric patients diagnosed with IBD underwent WES. We selected 18 genes with supporting literature where specific exonic variants would influence clinical care. Results We identified actionable pharmacogenes variants in 63% of patients. Importantly, 5% of IBD patients were at risk for serious adverse effects from anaesthesia and 3% were at increased risk for thrombosis. Conclusions We identified exonic variants in the majority of our IBD patients that directly impact clinical care. Flowchart of our pharmacogenomic analysis pipeline. After enrolment (n=2309), each patient underwent whole exome sequencing and sequence alignment. Available family members were also sequenced. Analyzed samples were limited to patients and family members with IBD (n=1097). Pharmacogenes relevant to patients with IBD were identified by literature review and evaluation of pharmGKB (total of 18 genes). Variant filtering was performed using Stargazer and GEMINI frameworks. In our cohort, there were 8 relevant pharmacogenes with variants that would alter clinical care based on current guidelines and standard of care. 63% of the patients had at least one variant that could impact care.

scholarly journals Should we Investigate Mitochondrial Disorders in Progressive Adult-onset Undetermined Ataxias?

2020 ◽  
Author(s):  
José Luiz Pedroso ◽  
Wladimir B Rezende Pinto ◽  
Orlando G Barsottini ◽  
Acary S B Oliveira
Keyword(s):  
Mitochondrial Dna ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Muscle Biopsy ◽  
Nuclear Dna ◽  
Late Onset ◽  
Mitochondrial Disorders ◽  
Adult Onset ◽  
Whole Exome ◽  
Merrf Syndrome

Abstract Background: Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expensive clinical challenge. Case presentation: In this article, we report a Brazilian man with adult-onset slowly progressive pure cerebellar ataxia, which developed neuropathy and hearing loss after fifteen years of ataxia onset, in which a primary mitochondrial DNA defect (MERRF syndrome - myoclonus epilepsy with ragged-red fibers) was confirmed through muscle biopsy evaluation and whole-exome sequencing. Conclusions: Mitochondrial disorders are a clinically and genetically complex and heterogenous group of metabolic diseases, resulting from pathogenic variants in the mitochondrial DNA or nuclear DNA. In our case, a correlation with histopathological changes identified on muscle biopsy helped to clarify the definitive diagnosis. Moreover, in neurodegenerative and neurogenetic disorders, some symptoms may be evinced later during disease course. We suggest that late-onset and adult pure undetermined ataxias should be considered and investigated for mitochondrial disorders, particularly MERRF syndrome and other primary mitochondrial DNA defects, together with other more commonly known nuclear genes.

Identification of extremely rare mitochondrial disorders by whole exome sequencing

2019 ◽  
Vol 64 (11) ◽  
pp. 1117-1125
Author(s):  
Go Hun Seo ◽  
Arum Oh ◽  
Eun Na Kim ◽  
Yeonmi Lee ◽  
Jumi Park ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mitochondrial Disorders ◽  
Whole Exome

scholarly journals Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

2017 ◽  
Vol 171 (9) ◽  
pp. 855 ◽  
Author(s):  
Tiong Yang Tan ◽  
Oliver James Dillon ◽  
Zornitza Stark ◽  
Deborah Schofield ◽  
Khurshid Alam ◽  
...  
Keyword(s):  
Cost Effectiveness ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Impact ◽  
Whole Exome

scholarly journals Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 36
Author(s):  
Rotem Tal-Ben Ishay ◽  
Apurba Shil ◽  
Shirley Solomon ◽  
Noa Sadigurschi ◽  
Hadeel Abu-Kaf ◽  
...  
Keyword(s):  
Cost Effectiveness ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
Cost Effective ◽  
Autism Spectrum ◽  
Chromosomal Microarray Analysis ◽  
Economic Implications ◽  
Whole Exome ◽  
Jewish Children

Whole-exome sequencing (WES) is an effective approach to identify the susceptibility of genetic variants of autism spectrum disorder (ASD). The Israel Ministry of Health supports WES as an adjunct tool for ASD diagnosis, despite its unclear diagnostic yield and cost effectiveness. To address this knowledge gap, we applied WES to a population-based sample of 182 Bedouin and Jewish children with ASD from southern Israel, and assessed its yield in a gene panel of 205 genes robustly associated with ASD. We then compared the incremental cost-effectiveness ratios (ICERs) for an ASD diagnosis by WES, chromosomal microarray analysis (CMA), and CMA + WES. Overall, 32 ASD candidate variants were detected in 28 children, corresponding to an overall WES diagnostic yield of 15.4%. Interestingly, the diagnostic yield was significantly higher for the Bedouin children than for the Jewish children, i.e., 27.6% vs. 11.1% (p = 0.036). The most cost-effective means for genetic testing was the CMA alone, followed closely by the CMA + WES strategy (ICER = USD 117 and USD 124.8 per child). Yet, WES alone could become more cost effective than the other two approaches if there was to be a 25% increase in its yield or a 50% decrease in its cost. These findings suggest that WES should be recommended to facilitate ASD diagnosis in Israel, especially for highly consanguineous populations, such as the Bedouin.

Sign in / Sign up

Export Citation Format

Share Document