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Last Posted: Jul 08, 2024
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Connecting lab, clinic, and community

From the article: "To better understand relationships between the genes we inherit and the environmental and societal factors that surround us and to deliver more evidence-driven health care, research must be integrated into clinical care and community settings, reaching patients from all walks of life. Unlike most research settings, primary care is patient- and community-centered and emphasizes health maintenance and preventive care alongside treatment and rehabilitation in a location as convenient as possible for the patient. "

Global health for rare diseases through primary care

From the article: " Genetic testing shows promise in diagnosing people with rare diseases, as over 72% of rare diseases have a genetic basis. Next-generation sequencing and other technologies have facilitated the time-effective and cost-effective diagnosis of most genetic diseases, but substantial challenges hinder widespread adoption. The lack of genetic workforce capacity is a global concern, even in high-income countries, with many regions and countries lacking sufficient genetic expertise. The low reimbursement by governments and private insurers for genetic services also poses an additional barrier. The combination of these factors prevent primary care providers from referring people with suspected rare disease to specialists, which delays diagnosis and treatment. "

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

From the abstract: "A total of 190 papers were identified, 18 of which were eligible for inclusion. A cancer risk-assessment tool incorporating PGS was acceptable to the general practice population and their healthcare providers but major challenges to implementation were identified, including lack of evidence for PGS in non-European ancestry and a need for healthcare provider education in genomic medicine. A PGS cancer risk-assessment had relatively limited impact on psychosocial outcomes and health behaviours. However, for prostate cancer, potential applications for its use in primary care were shown. "

All of Us Participant Perspectives on the Return of Value in Research

From the abstract: "Participants (N=20,405) were diverse in their race/ethnicity (e.g., 52% were White, 18% were Hispanic/Latino or Spanish, 3% were Asian, and 20% were Black or African American). Most participants (78.6%) valued information about their risk of serious genetic diseases with available treatment. Primary care physicians, specialists, and genetic counselors were the top providers that participants could access for help understanding returned information. Information preferences and provider access varied across sociodemographic groups. "

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.