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Carrier Screening - DOAJ

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Last Updated: 12 January 2023

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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

People with reproductive genetic disorder screening often have information about their likelihood of having children with autosomal recessive or X-linked genetic disorders, enabling informed reproductive decision-making. RGCS is recommended to be given to all couples during pregnancy or early pregnancy. The Australian Government supported Mackenzie'u2019s Mission u2014: The Australian Reproductive Genetic Carrier Screening Project to address this. Implementation needs were mapped in study Phase 1, and key research components were established. In Phase 2, healthcare professionals trained by the study team will be able to provide RGCS. Over 1200 genes associated with > 750 common, childhood-onset genetic disorders are tested in reproductive couples who give consent. Reproductive couples, recruiting healthcare consultants, and the research team members are also encouraged to complete surveys and/or interviews. Along with an ongoing bioethical investigation and a health economic evaluation, a mixed-methods study will be carried out in Phase 3 to assess the program's results, psychosocial impacts, and implementation considerations.

Source link: https://doi.org/10.3390/jpm12111781


Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

Individuals and couples with reproductive genetic carrier testing gain information about their chance of having a child with an autosomal recessive or X-linked recessive genetic disorder are deprived of an autosomal recessive genetic disorder. Traditionally, carrier screening has been used by family members of disadvantaged individuals. A scoping review of the literature was conducted to determine what the reproductive genetic carrier screening needs are and what future research is required. The offeru2014when and in what context to offer screening; Informationu2014the benefits of and what to include in education; and pre- and post-test analysis; and personalizationu2014how can we find the balance between standardized and personalized approaches? We present a set of recommendations for implementing population-scale reproductive genetic carrier testing, as well as suggested areas for future study based on the existing literature.

Source link: https://doi.org/10.3390/jpm12101699


Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

The necessary steps toward the establishment and successful implementation of carrier-screening services are the analysis of population allele frequencies of pathogenic variants in genes associated with these diseases as well as the selection of the correct genotyping strategy. We carried out custom panel genotyping of 3821 people from two Russian population representative samples and three patient groups using real-time polymerase chain reaction and next generation sequencing.

Source link: https://doi.org/10.3390/jpm12071132


Current Updates on Expanded Carrier Screening: New Insights in the Omics Era

Over the past decade, genetic carrier testing has been used to identify individuals at risk of transmitting particular DNA variations to their newborns, thus affecting the affected child. Traditional testing has been carried out based on family and/or ethnic origins. carrier screening has evolved to a more comprehensive and comprehensive approach, i. e. , enhanced carrier screening. Several disease-related genes are linked to various diseases and help identify individuals'u2019 carrier statuses, according to multiple disease-related genes and the improvement of individual carrier status. In addition, if couples perform ECS before pregnancy, it gives them a complete picture of their genetic risk and the possibility of making an informed decision about their reproductive life. ECS is expected to become a more common feature in clinical settings once these factors are established.

Source link: https://doi.org/10.3390/medicina58030455


Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set

The findings from studies of reproductive genetic carrier screening revealed significant differences in the results reported. A main outcome set is a scheme to standardize outcome reporting, allowing direct comparison of results across studies to aid in the analysis of effects and potential risks. Patients' perspectives were included in this research's design of a key outcome set by eliciting a comprehensive knowledge of outcomes that are relevant to patients. This includes grief and loss among higher risk couples, increased risk couples', the role of freedom in conceptualizing the value of RGCS, the effects of cultural context and barriers that contribute to negative experiences, as RGCS becomes more popular, as RGCS becomes more widespread.

Source link: https://doi.org/10.3390/jpm12081310


Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

Abstract Background: Founder populations that have recently undergone significant gene bottlenecks such as French-Canadians and Ashkenazi Jews can have certain pathogenic variants at a higher incidence in this population than the general population, putting them at a higher risk of certain genetic disorders. Acadians are descendants of French immigrants who settled on the Atlantic Coast of Canada in the seventeenth century. Nevertheless, the Acadian population has never been investigated for the presence/frequency of disease-causing genetic variants. Methods An exome sequencing panel for 312 autosomal recessive and 30 X-linked diseases was developed, and 60 healthy participants were sequenced to determine carrier frequency for the targeted diseases. Results In this study, we find that a small population of Acadians in South-East New Brunswick harbor variants of 28 autosomal recessive and 1 X-linked diseases, some of which are significantly more prevalent in comparison to reference populations.

Source link: https://doi.org/10.1186/s12920-022-01249-1


A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

Genetic testing is a novel method for reducing recessive disease burden in adolescents. This paper discusses the creation of a carrier screening panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss among 116 variants of the CFTR, PAH, SERPINA1, and GJB2 genes. In CFTR u20142. 8 percent or 1:6, PAH u20142. 3 percent, SERPINA1 u20149. 8 percent, and GJB2 u20146. 83% : the number of heterozygotes in the Russian population was 16. 87% or 1:6 percent. The results on allele frequencies were found on a Russian population for the first time.

Source link: https://doi.org/10.3390/jpm10030140


Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China

Expanded carrier screening is an effective way to identify at-risk couples and avoid birth defects. 254 people had genetic disease symptoms in total, and 56 of them were diagnosed with genetic diseases by MES. U201d or u201csevere : This study revealed the fact that the Chinese population's ECS gene panel was lacking, and couples were prone to undertake preimplantation genetic testing when diseases were classified as u201cprofound (u201d) or u201d. U201dConclusion: This study revealed the information needed to establish a good ECS gene panel.

Source link: https://doi.org/10.3389/fgene.2022.943058


Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

Abstract of the study The extent of clinical validity of preconception screening and its potential to minimize the risk of affected offspring is unknown. In a retrospective review of ECS with different criteria for gene selection and definition of pathogenicity, we addressed the issue of residual risk in their offspring, since neurodevelopmental disorders in their offspring is a major worry among parents-to-be. In a retrospective analysis examining ECS with different criteria for gene selection and definition of pathogenicity, we addressed the question of residual risk by determining the risk reduction potential for NDDs. In up to 3046 recessive/X-linked genes, we used exome sequencing results from 700 parents of children with NDDs and blindly tested for carrier-alleles in up to 300 families with NDDs and blindly screened for carrier-alleles in up to 3046 recessive/X-linked genes.

Source link: https://doi.org/10.1038/s41525-022-00316-x


Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women

Prior research examining genetic testing hasn't generally looked at the context of population-based solutions offered in routine healthcare or among ethnically diverse populations. Women of reproductive age may be able to benefit from cancer predisposition testing and carrier screening. Compared to non-Latina respondents, Latina respondents were more likely to be interested in cancer predisposition testing than non-Latina respondents. Multiple models showed heightened curiosity in multivariable models, with greater worries about genetic risks, greater genetic information, and a greater sense of genetic information. Our results indicate a great deal of concern among young women in both cancer predisposition testing and carrier screening as part of routine healthcare services with a common interest between Latina and non-Latina women. To promote informed decision making, it will be helpful to assist healthcare professionals in discussing genetic testing and addressing the needs of those who have less extensive knowledge of genetics.

Source link: https://doi.org/10.3389/fgene.2022.866062

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions