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Last Posted: Apr 23, 2024
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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra et al. NPJ Genom Med 2024 3 (1) 23

From the article: "GS has ushered in a new era in the diagnosis of genetic diseases, offering the potential for improved patient care. Now is the time for collective action to overcome challenges, implement best practices, and ensure that the benefits of GS are realized for all individuals affected by genetic diseases. Indeed, widespread and appropriate utilization of GS is critical for directing the emerging gene editing, gene therapy, and cell-based therapies for rare genetic disorders. Concerted policy, education, guideline, and care pathway efforts will drive significant advancements in precision medicine and improve health outcomes for patients with genetic conditions. "

Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 3 (3) e242609

From the abstract: " In this comparative effectiveness study, generative methods were used to create images of fake but realistic-appearing individuals with Kabuki and Noonan syndrome. Through online surveys, generated images were found to help residents recognize these syndromes and improved their confidence in this area compared with text-only descriptions, although real images were most helpful. These findings suggest that generative artificial intelligence could supplement genetics education for pediatric residents by helping teach the recognition of rare conditions. "

Thirty-year of genetic counselling education in Europe: a growing professional area
M Paneque et al, EJHG, February 15, 2024

From the abstract: "Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs. Up to May 2022, 710 students have graduated from genetic counseling training programs across Europe. Of these, 670 students graduated from European Board of Medical Genetics-registered programs. Arranging clinical placements, clinical and counseling supervision of students, research collaboration for MSc research projects and incorporating genomics into the curriculum were identified as current challenges for genetic counseling education. "

Next Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications
MC Roberts et al, Public Health Genomics, December 22, 2023

From the article: "The field of Public Health Genomics recently celebrated its twenty-fifth anniversary. Defined by the CDC as responsible and effective translation of genome-based knowledge and technologies for the benefit of population health, public health genomics applications have expanded beyond newborn screening to other applications poised to improve public health. Yet despite the promise and potential for public health genomics, the population health impact and sustainability of public health genomics applications has yet to be fully measured and achieved. Further access to public health genomics applications has been lower among underrepresented racial and ethnic communities, rural communities, and groups with lower education and income, deepening concerns that the field could exacerbate rather than redress health inequities. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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