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Health Equity PHGKB

Specific PHGKB|Health Equity PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Effective August 1, 2024, this database was discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.

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Crossing the Equity Chasm: Addressing a Second Valley of Death in Biomedical Innovation

From the article: "Recent transformative advances in health and medicine have successfully traversed the valley of death, including progress in genomics, precision medicine, innovative medicines and vaccines, gene therapy, and artificial intelligence. However, it is critical to call attention to a second, important valley of death: the failure to deliver scientific advances to populations most in need. The second valley of death is fueled by socioeconomic, environmental, political, and systemic factors; health system failures; and persistent challenges in closing the last mile in health care, resulting in significant disparities in morbidity and mortality worldwide. "

Advancing ASO therapies from development to implementation

From the abstract: "A novel application of antisense oligonucleotide (ASO) technology, developed to treat a single patient, adds to the growing number of ‘personalized’ therapies for rare diseases; but pathways to implementation and access are urgently needed. "

Every baby deserves access to genetic screening

From the article: "Nation-wide genetic screening, available to all newborns, could in principle also be a tool to narrow the disparities that exist in today’s healthcare systems, providing to every family information about their baby’s health, regardless of socioeconomic and geographical factors. Designing genomics-based newborn screening programs that bring benefit equitably to the population is, however, an extremely complex task, also given the costs, and there is an urgent need to generate robust evidence on the potential benefits and harms of the approach, at the population level, before it can be implemented more widely. "

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants

From the abstract: " We systematically identified pathogenic (P) and likely pathogenic (LP) variants in established disease-causing genes, adhering to ACMG v3.2 secondary finding guidelines and beyond. For non-ACMG secondary findings, akin to incidental findings in clinical settings, we utilized a set of criteria focusing on pediatric onset, high penetrance, moderate to severe phenotypes, and the clinical actionability of the variants...Overall, variants of possible medical importance were found in 8.76% of participants in both ACMG (5.81%) and non-ACMG (2.95%) genes. "


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About Health Equity PHGKB

Health Equity PHGKB is an online, continuously updated, searchable database of genomics and precision health information and publications relevant to health equity...more

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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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