Public Health Genomics

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INTRODUCTION: Although the prevalence of a pathogenic variant in the BRCA1 and BRCA2 genes is about 1:400 (0.25%) in the general population, the prevalence is as high as 1:40 (2.5%) among the Ashkenazi Jewish population. Despite cost-effective preventive measures for mutation carriers, Orthodox Jews constitute a cultural and religious group that requires different approaches to BRCA1 and BRCA2 genetic testing relative to other groups. This study analyzed a dialogue of key stakeholders and community members to explore factors that influence decision-making about BRCA1 and BRCA2 genetic testing in the New York Orthodox Jewish community...

INTRODUCTION: Non-invasive prenatal testing (NIPT) can be used to detect fetal chromosomal abnormalities early in pregnancy. As eligibility criteria broaden and screening targets expand, gauging public acceptability of NIPT becomes increasingly important. Leveraging social media as a rich source of public discourse, the purpose of this study was to understand public opinions and attitudes toward NIPT on the social media platform Reddit. METHODS: We applied content and natural language processing techniques (i...

INTRODUCTION: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans' attitudes and knowledge of genetic disease, genetic testing and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods...

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Introduction Over the last decade, the emergence and spread of Personalised Medicine (PM) has defined a substantial revolution in healthcare. In principle, healthcare system sustainability is challenged by the investments required for research and development, as well as the adoption of PM techniques in routine clinical care. The "Integrating China in the International Consortium for Personalised Medicine" (IC2PerMed) EU-funded project aims to integrate China into the "International Consortium for Personalised Medicine" (ICPerMed)...

INTRODUCTION: Published data on the association between the MTNR1B rs1387153 polymorphism and gestational diabetes mellitus(GDM) risk are controversial. A meta-analysis was performed to assess whether the polymorphism of MTNR1B rs1387153 is associated with GDM risk. METHODS: Medline, Embase, China National Knowledge Infrastructure, and Chinese Biomedicine Databases were searched to identify eligible studies. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) for MTNR1B rs1387153 polymorphism and GDM were appropriately derived from fixed-effects or random effects models...

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Newborn screening (NBS) facilitates early detection and treatment of infants with rare, treatable conditions, improving their health and well-being. Integrating genomic sequencing into NBS (genomic newborn screening, or gNBS) is an approach being considered by an increasing number of jurisdictions worldwide. Despite the potential benefits of gNBS, there remain substantial challenges to its global implementation. The purpose of this perspective paper is to discuss four pressing challenges to the equitable implementation of gNBS at a population level, and to present calls to action for each challenge...

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Information generated by genomic discoveries is increasingly accessible in clinical, public health, and direct-to-consumer contexts, reaching broader segments of the population than with traditional genetic services models [1]. With this expansion has come a recognition of the critical importance of communicating about genetics and genomics in ways that support access to, decisions about, and utilization of genetic information. Individuals' genetics-related knowledge and skills, or their "genetic literacy," are critical to the reach and effective utilization of genomic technologies [2-5]...

INTRODUCTION: Research on the perceived utility of genomic sequencing has focused primarily on pediatric populations and on individuals and families with rare genetic diseases. Here, we evaluate how well a multifaceted perceived utility model developed with these populations applies to a diverse, adult population aged 18-49 at risk for hereditary cancer and propose new considerations for the model. METHODS: Participants received clinical genomic sequencing in the Cancer Health Assessments Reaching Many (CHARM) study...

INTRODUCTION: Genetic screening for preventable adult-onset hereditary conditions has been proposed as a mechanism to reduce health disparities. Analysis of how race and ethnicity influence decision-making to receive screening can inform recruitment efforts and more equitable population screening design. A study at the University of Washington Medicine that invited unselected patients to participate in genetic screening for pathogenic variation in medically important genes provided an opportunity to evaluate these factors...

INTRODUCTION: Genetic discrimination (GD) in the context of life insurance is a perennial concern in Australia and internationally. To address such concerns in Australia, an industry self-regulated Moratorium on Genetic Tests in Life Insurance was introduced in 2019 to restrict life insurers from using genetic test results in underwriting for policies under certain limits. Financial advisers (FAs) are sometimes engaged by clients to provide financial advice and assist them to apply for life insurance...