Meta-Analyses of Multiple Gene Expression Profiles to Screen Hub Genes Related to Osteoarthritis
Conclusion: In this study, the meta-analysis was used to screen the central genes associated with OA in a variety of gene expression profiles. Three OA-related modules (green, turquoise, and yellow) containing 370 genes were identified through WGCNA. It was discovered through the gene-pathway network thatGSK3B, CDC42, AKT1, FZD2,and GUSB may be key genes related to the progress of OA and may become promising therapeutic targets.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - August 2, 2021 Category: Genetics & Stem Cells Source Type: research
Oncologists ’ Perceptions of Tumor Genomic Profiling and the Communication of Test Results and Risks
Tumor genomic profiling (TGP) identifies genetic targets for precision cancer treatments. The complexity of TGP can expose gaps in oncologists ’ skills, complicating test interpretation and patient communication. Research on oncologists’ use and perceptions of TGP could inform practice patterns and training needs. To study this, a sample of oncologists was surveyed to assess TGP use, perceptions, and perceived skills in TGP interpretat ion/communication, especially in communication of hereditary risks. Genomic self-efficacy and TGP knowledge were also assessed. The goal sample (n = 50) was accrued from 12/2019 to 1/202...
Source: Public Health Genomics - July 29, 2021 Category: Genetics & Stem Cells Source Type: research
Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review
Conclusions: A novel 8q24.3 duplication and 21q22.3 deletion was identified in a Chinese patient. Genotype-phenotype analysis demonstrated that patients with 8q24.3 duplication and 21q22.3 deletion had specific facial features, intellectual disability, short stature, and multiple malformations.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 15, 2021 Category: Genetics & Stem Cells Source Type: research
Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day
Background: In the context of medical genetics, gene hunting is the process of identifying and functionally characterizing genes or genetic variations that contribute to disease phenotypes. In this review, we would like to summarize gene hunting process in terms of historical aspects from Darwin to now. For this purpose, different approaches and recent developments will be detailed.Summary: Linkage analysis and association studies are the most common methods in use for explaining the genetic background of hereditary diseases and disorders. Although linkage analysis is a relatively old approach, it is still a powerful metho...
Source: Public Health Genomics - July 8, 2021 Category: Genetics & Stem Cells Source Type: research
Formative Evaluation of the Families SHARE Disease Risk Tool among Low-Income African Americans
Conclusion: Families SHARE is an engaging FHH tool that can be further tailored to optimize its value and benefits for low-income African Americans.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 7, 2021 Category: Genetics & Stem Cells Source Type: research
Practices and Attitudes toward Returning Genomic Research Results to Low-Resource Research Participants
Conclusion: Support to access downstream treatment is not readily available for LRRP in many genomic research programs. Development of best practices and policies for managing RoR to LRRP is needed.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 6, 2021 Category: Genetics & Stem Cells Source Type: research
p53 Mutation at Serine 249 and Its Gain of Function Are Highly Related to Hepatocellular Carcinoma after Smoking Exposure
Conclusions: It strongly demonstrated that tobacco smoking is positively and independently associated with HCC, which may be attributed to p53-RS and its gain of function.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - June 30, 2021 Category: Genetics & Stem Cells Source Type: research
The Perception of Premarital Genetic Screening within Young Jordanian Individuals
Conclusions: Young Jordanians have a positive attitude toward the implementation of PGS. Yet, educational programs should be drawn up to the target population before getting married emphasizing the important role of PGS in the wellness of the community.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - June 30, 2021 Category: Genetics & Stem Cells Source Type: research
Development and Validation of a Comprehensive Genomics Knowledge Scale
Conclusion: GKnowM is an updated, broadly relevant, rigorously validated 26-item measure for assessing genomics knowledge that we anticipate will be useful for assessing population genomic literacy and evaluating the effectiveness of genomics educational interventions.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 31, 2021 Category: Genetics & Stem Cells Source Type: research
Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care
Conclusions: Attitudes identified here could be used to inform the development of implementation strategies for genomic medicine. Findings suggest health systems must address patient concerns about privacy, consent practices, and the strong desire to control what happens to their genomic data through public outreach and education. Specific oversight procedures and policies that are clearly communicated to the public will be required.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 26, 2021 Category: Genetics & Stem Cells Source Type: research
The Belgian DNA Debate: An Online Deliberative Platform on the Ethical, Legal, and Social Issues of Genomics
Conclusion: The attitude of contributors towards the societal use of genomic information and its ELSI aligns with a soft precautionary approach, in which prudence and the weighing of different values should result in protective measures against potential risks and harms. Further societal implementation of genomics should include these values and concerns.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 5, 2021 Category: Genetics & Stem Cells Source Type: research
Factors Influencing Discussion of Cancer Genetic Testing with Health-Care Providers in a Population-Based Survey
Discussion of cancer genetic testing with health-care providers (HCPs) is necessary to undergo testing to inform cancer risk assessment and prevention. Given the rapid evolution in genetic testing practice in oncology, we describe the current landscape of population-level cancer genetic testing behaviors.Methods: A questionnaire including items regarding discussion of cancer genetic testing with HCPs was administered to a nonprobability sample (N = 2,029) of the Texas population.Results: Overall, 11% of respondents discussed cancer genetic testing with HCPs. In multivariable analysis, discussion was significantly related t...
Source: Public Health Genomics - April 22, 2021 Category: Genetics & Stem Cells Source Type: research
Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA
Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of #x3c;1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate the implementation of FH screening, key informants were recruited from across the USA for their expertise in FH-related literature, guidelines, public health, and/or advocacy to complete semistructured interviews guided by imp...
Source: Public Health Genomics - April 14, 2021 Category: Genetics & Stem Cells Source Type: research
Contribution of XPD and XPF Polymorphisms to Susceptibility of Non-Small Cell Lung Cancer in High-Altitude Areas
Conclusion: This study found thatXPD andXPF variants might contribute to NSCLC risk and the response of cisplatin-based chemotherapy among the Chinese Han population in high-altitude areas.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - April 7, 2021 Category: Genetics & Stem Cells Source Type: research
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study
Conclusion: GD is a rare disease with a high mortality rate, if left untreated. ERT and SRT are the definitive treatments which increase the survival. In resource-limited settings like India, with higher prevalence of the neuronopathic type, HSCT may be a more suitable definitive treatment option, due to its one-time intervention and cost, assuming similar efficacy to ERT. However, the efficacy and safety of HSCT in GD needs to be established further by substantial patient numbers undergoing it.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - April 6, 2021 Category: Genetics & Stem Cells Source Type: research
