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However, there is no direct comparison between the two methods for carrier screening of thalassemia. To compare the clinical results of third-generation sequencing with next-generation sequencing in carrier screening of thalassemia. 512 people were carriers of u03b1-thalassemia, 110 were carriers of u03b2-thalassemia, 11 were carriers of u03b1-thalassemia, 110 were carriers of u03b2-thalassemia, 103 were carriers of u03b1-thalassemia, 110 were carriers of u03b1-thalassemia, 110 were carriers of u03b1-tha 61 were u03b1-tha u03b1-thalassemia, 110 were carriers of u03b1-thau03b1-thalecti-thau03b1-tha thau03b1-tharitha-tha-tha-thalassemia, tha-thamma-thau03b1-tha-tha-tha'u03b1-tha-thalassemia, 112-tha-th For the first time in Hainan Province, three thalassemia variants were reported, including -THAI, -u03b12. 4, and u03b1u03b1. 3. 9. u03b1u03b1u03b1'u03b1anti3. 7. In 36 patients with positive hemoglobin test findings, eleven variants of potential pathogenicity were identified. 17 people were identified with thalassemia variants among 52 people with negative hemoglobin test findings. Comparing to next-generation sequencing, third-generation sequencing was shown to be a more accurate and reliable method in carrier screening of thalassemia.
Source link: https://europepmc.org/article/MED/36630651
Expanded carrier screening includes a screening process for multiple recessive disorders at the same time, and allows for the testing of individuals or couples regardless of ancestry or geographic location. Children of insecure couples have a higher risk of experiencing autosomal recessive disorders than those of others. At Maastricht University Medical Center in the Netherlands, seven semi-structured interviews were conducted with consanguineous couples who had recently completed in Whole Exome Sequencing -based ECS. In addition, our results show that genuine consent for taking this test requires timely reports about the potential consequences of a positive test result for particular segments of risk, as well as the availability of reproductive aids; the clinical geneticist has a key role in establishing what type of genetic risk information is considered u2018meaningful by participants and contributes to reproductive decision-making; in addition, our results show that valid consent for the test results are still needs to investigate what type of genetic risk information is deemed u2019 means contributing to reproductive decision making.
Source link: https://europepmc.org/article/PPR/PPR595250
Both reproductive couples are screened by Carrier for their likelihood of having children affected by severe monogenic disorders. Carrier screening has been used in high-risk populations for certain conditions, but new results have revealed that providing carrier screening to all patients, regardless of ethnicity, helps identify at-risk couples more effectively and equitably identify at-risk couples. This expanded carrier screening strategy is now embraced by professional society guidelines, coupled with technologies that allow screening for a virtually unlimited number of conditions. Given the American College of Medical Genetics and Genomics' recent guidelines to screen all patients who are pregnant or considering pregnancy for 113 conditions, concerns regarding whether or not they should be included on a core ECS panel remain. We briefly review the past of carrier screening and guidelines on panel design here.
Source link: https://europepmc.org/article/MED/36624552
Methods We undertook a retrospective observational study of patients who had CS after receiving pre-test guidance from a licensed genetic counselor at a large tertiary care center. According to the number of genes tested and estimated odds ratios, we undertook subgroup analysis by type of unexpected findings and estimated odds ratios and 95% confidence intervals for carrier testing protocols. Over the time frame, a total of 485 patients had CS over the time period set. One unexpected find, 412 patients, was discovered by unexpected occurrence, and 29 patients had two or more findings. Patients were advised of the risks for MCs, genotypes predicting phenotype, and chromosome abnormalities in 27. 6%, 93. 3%, and 100% of cases respectively. Compared to 200 gene panels, more unexpected results were revealed with sequencing compared to genotyping and with u2265200 gene panels.
Source link: https://europepmc.org/article/MED/36529847
Background: A second-generation sequencing has been suggested as a second-tier diagnostic test for newborn screening, which may help identify hundreds monogenic disorders with a wider range and earlier stage. Methods Among the 1087 children who underwent liquid chromatography-tandem mass spectrometry were sent for amplicon sequencing-based carrier screening, with at least one abnormal value of LC-MS/MS measurements. Only 89 children have none of clinically significant variants, while another 201 people have 1-4 variants in 63 genes, according to the Department. In LC-MS/MS, more than 42 children have elevated phenylalanine, but only 12 of them were found to have clinically relevant variants of the PAH gene. Conclusions in our study The amplicon sequencing-based carrier screening could help clarify the inconsistent LC-MS/MS findings, which may also show other monogenic disorders that have been undescribed by LC-MS/MS screening.
Source link: https://europepmc.org/article/MED/36574877
The latest ACMG guidelines recommend offering NGS-based carrier screening in an ethnic and population-neutral manner for all genes with a carrier frequency > 1/200. We analyzed 118 ciliopathy genes in 400 healthy local people and 1000 people from the UK1958-birth cohort. We discovered 20% of healthy people to be carriers of documented variants of a ciliopathy gene, while 50% have variants of uncertain significance. The observed carrier frequency is significantly higher than expected when considering only pathogenic variants, despite the fact that only pathogenic variants are deemedable, pushing the 1/200 carrier frequency cut-off recommended for choosing genes over screen. Genetic testing must specifically state NGS-CS's limitations due to the challenges related to variant interpretation in healthy individuals and the confusion surrounding true carrier frequencies.
Source link: https://europepmc.org/article/MED/36550190
To promote optimal practice and ensure responsible implementation of new patient-care initiatives, it is crucial to understand the benefits of health services. There is no current consensus on which outcomes are appropriate for the evaluation of genetic health disorders, including genetic testing and genetic counseling. The Core Outcome DEvelopment Study for Carrier Screening has addressed this lack of direction by taking a systematic approach to determine the findings that can meaningfully represent the benefits of reproductive genetic carrier screening's research findings. The main findings of RGCS are determined by consensus among Australian and New Zealand stakeholders herein. We research this process to determine the degree of agreement among Australian and New Zealand stakeholders regarding the basic outcomes of RGCS. The top tier findings were considered to be highly relevant for all future studies and were used to design a preliminary core outcome set encompassing the domains key laboratory findings, pregnancy findings, resource use, and perceived value of RGCS.
Source link: https://europepmc.org/article/PPR/PPR588714
Although carrier screening is heavily related to newborn screening or prenatal genetic testing of the fetus, a primary goal of carrier screening is to help people considering pregnancy or breastfeeding to make informed reproductive decisions. Historically, carrier screening services have been geared toward finding gene mutations for particular conditions in specifically targeted populations. The Black Panthers introduced one of North America's first ethnicity-based, targeted carrier screening services in 1970, concentrating on screening Black Americans for SCD. U201d is one of the suggested solutions to targeted, ethnicity-based carrier screening's potentially stigmatizing and discriminatory results. This was originally meant as an act of Black liberation in the United States, but the emergence and implementation of expanded testing panels has instead been disabling and potentially disabling and racial. Although we concentrated on carrier screening for CF, HbPs, FXS, and SMA, we also included literature that looked at expanded carrier screening services more broadly.
Source link: https://europepmc.org/article/MED/36170467
Rather than comprehensive CFTR sequencing, European and Australian recommendations for cystic fibrosis reproductive carrier screening encourage testing a small number of high frequency CF-causing variants rather than comprehensive CFTR sequencing. Methods: The CFTR gene was sequenced by next-generation DNA sequencing of the CFTR gene was performed on 2552 individuals from a whole population sample to find CF causing variants. Conclusions Reproductive carrier screening tests for a small number of CF variants are unable to identify approximately 10% of CF variants in a multiethnic Australian population, and individuals of East Asian ethnicity are disproportionally impaired by this test limitation.
Source link: https://europepmc.org/article/MED/36484552
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