scholarly journals Carrier screening by next‐generation sequencing: health benefits and cost effectiveness

2016 ◽  
Vol 4 (3) ◽  
pp. 292-302 ◽  
Author(s):  
Mohammad Azimi ◽  
Kyle Schmaus ◽  
Valerie Greger ◽  
Dana Neitzel ◽  
Robert Rochelle ◽  
...  
Keyword(s):  
Cost Effectiveness ◽  
Next Generation Sequencing ◽  
Health Benefits ◽  
Carrier Screening ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China

2020 ◽  
Vol 73 (8) ◽  
pp. 488-492 ◽  
Author(s):  
Jianghong Zhao ◽  
Jia Li ◽  
Qiaohong Lai ◽  
Yanping Yu
Keyword(s):  
Next Generation Sequencing ◽  
Southern China ◽  
Cost Effective ◽  
Carrier Screening ◽  
Lower Sensitivity ◽  
Carrier Rate ◽  
Next Generation ◽  
Cost Effective Method ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

AimsThalassaemia is one of the most common genetics disorders in the world, especially in southern China. The aim of the present study was to investigate the feasibility of combining the gap-PCR and next-generation sequencing (NGS) for thalassaemia carrier screening in the Chinese population.MethodsBlood samples were obtained from 944 prepregnancy couples; thalassaemia carrier screening was performed by using a routine haematological method and a combination of gap-PCR and NGS method.ResultsWe found that the α thalassaemia carrier rate was 11% (207/1888); the β thalassaemia carrier rate was 3.7% (70/1888); the composite α thalassaemia and β thalassaemia carrier rate was 0.4% (8/1888). We also identified seven novel mutations, including HBA1: c.412A>G, −50 (G>A), HBB: c.*+129T>A, HBB: c.-64G>C, HBB: c.-180G>C, HBB: c.*+5G>A and HBB: c.-113A>G. By comparing the combined gap-PCR and NGS method, the MCV+MCH and HbA2 detection strategy showed a lower sensitivity of 61.05% (105/172) and a higher missed diagnosis ratio of 38.95% (67/172) for α thalassaemia mutations. The sensitivity was improved with the MCV+MCH and HbA2 detection screen when compared with MCV+MCH detection for β thalassaemia (98.51% vs 85.90%).ConclusionsOur study suggests the combined gap-PCR and NGS method is a cost-effective method for the thalassaemia carrier screening, particularly for the α thalassaemia mutation carriers.

scholarly journals Cost-effectiveness analysis comparing companion diagnostic tests for EGFR, ALK, and ROS1 versus next-generation sequencing (NGS) in advanced adenocarcinoma lung cancer patients

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Luciene Schluckebier ◽  
Rosangela Caetano ◽  
Osvaldo Ulises Garay ◽  
Giuliana T. Montenegro ◽  
Marcelo Custodio ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Cost Effectiveness ◽  
Next Generation Sequencing ◽  
Molecular Testing ◽  
Next Generation ◽  
Rt Pcr ◽  
Mutational Status ◽  
Life Years ◽  
Sequential Tests ◽  
Generation Sequencing

Abstract Background The treatment of choice for advanced non–small cell lung cancer is selected according to the presence of specific alterations. Patients should undergo molecular testing for relevant modifications and the mutational status of EGFR and translocation of ALK and ROS1 are commonly tested to offer the best intervention. In addition, the tests costs should also be taken in consideration. Therefore, this work was performed in order to evaluate the cost-effectiveness of a unique exam using NGS (next generation sequencing) versus other routinely used tests which involve RT-PCR and FISH. Methods The target population was NSCLC, adenocarcinoma, and candidates to first-line therapy. Two strategies were undertaken, strategy 1 corresponded to sequential tests with EGFR RT-PCR, then FISH for ALK and ROS1. Strategy 2 differed from 1 in that ALK and ROS1 translocation testing were performed simultaneously by FISH. Strategy 3 considered single test next-generation sequencing, a platform that includes EGFR, ALK and ROS1 genes. A decision tree analysis was used to model genetic testing options. From the test results, a microsimulation model was nested to estimate survival outcomes and costs of therapeutic options. Results The use of NGS added 24% extra true cases as well as extra costs attributed to the molecular testing. The ICER comparing NGS with sequential tests was US$ 3479.11/correct case detected. The NGS improved a slight gain in life years and QALYs. Conclusion Our results indicated that, although precise, the molecular diagnosis by NGS of patients with advanced stage NSCLC adenocarcinoma histology was not cost-effective in terms of quality-adjusted life years from the perspective of the Brazilian supplementary health system.

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data

2020 ◽  
Author(s):  
Antonio Capalbo ◽  
Maurizio Poli ◽  
Antoni Riera-Escamilla ◽  
Vallari Shukla ◽  
Miya Kudo Høffding ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Association Studies ◽  
Carrier Screening ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Next Generation ◽  
Secondary Findings ◽  
Pubmed Central ◽  
Genome Wide ◽  
Generation Sequencing

Abstract BACKGROUND Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, further boosting our knowledge and therapeutic tools for treating infertility and improving women’s health. OBJECTIVE AND RATIONALE In this article, we review current knowledge and potential development of preconception genome analysis aimed at detecting reproductive and individual health risks (recessive genetic disease and medically actionable secondary findings) as well as anticipating specific reproductive outcomes, particularly in the context of IVF. The extension of reproductive genetic risk assessment to the general population and IVF couples will lead to the identification of couples who carry recessive mutations, as well as sub-lethal conditions prior to conception. This approach will provide increased reproductive autonomy to couples, particularly in those cases where preimplantation genetic testing is an available option to avoid the transmission of undesirable conditions. In addition, GS on prospective infertility patients will enable genome-wide association studies specific for infertility phenotypes such as predisposition to premature ovarian failure, increased risk of aneuploidies, complete oocyte immaturity or blastocyst development failure, thus empowering the development of true reproductive precision medicine. SEARCH METHODS Searches of the literature on PubMed Central included combinations of the following MeSH terms: human, genetics, genomics, variants, male, female, fertility, next generation sequencing, genome exome sequencing, expanded carrier screening, secondary findings, pharmacogenomics, controlled ovarian stimulation, preconception, genetics, genome-wide association studies, GWAS. OUTCOMES Through PubMed Central queries, we identified a total of 1409 articles. The full list of articles was assessed for date of publication, limiting the search to studies published within the last 15 years (2004 onwards due to escalating research output of next-generation sequencing studies from that date). The remaining articles’ titles were assessed for pertinence to the topic, leaving a total of 644 articles. The use of preconception GS has the potential to identify inheritable genetic conditions concealed in the genome of around 4% of couples looking to conceive. Genomic information during reproductive age will also be useful to anticipate late-onset medically actionable conditions with strong genetic background in around 2–4% of all individuals. Genetic variants correlated with differential response to pharmaceutical treatment in IVF, and clear genotype–phenotype associations are found for aberrant sperm types, oocyte maturation, fertilization or pre- and post-implantation embryonic development. All currently known capabilities of GS at the preconception stage are reviewed along with persisting and forthcoming barriers for the implementation of precise reproductive medicine. WIDER IMPLICATIONS The expansion of sequencing analysis to additional monogenic and polygenic traits may enable the development of cost-effective preconception tests capable of identifying underlying genetic causes of infertility, which have been defined as ‘unexplained’ until now, thus leading to the development of a true personalized genomic medicine framework in reproductive health.

scholarly journals Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

2020 ◽  
Vol 182 (8) ◽  
pp. 1906-1912 ◽  
Author(s):  
Johanna L. Schmidt ◽  
Amy Pizzino ◽  
Jessica Nicholl ◽  
Allison Foley ◽  
Yue Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Relative Frequency ◽  
Carrier Screening ◽  
Next Generation ◽  
Generation Sequencing
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