Effective August 1, 2024, this database was discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.
Spotlight
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
From the abstract: "What is the parental acceptance, feasibility, and screen-positive rate of targeted genome screening in newborns of different racial and ethnic groups? In this study of 4000 newborns, 72.0% of approached families consented to participate. Genome sequencing was successfully completed for 99.6% of participants. The screen-positive rate in a predefined gene panel was 3.7%. Targeted analysis of a predefined set of genes from genome sequencing for screening in a diverse newborn population is feasible and could expand the scope of newborn screening. "
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. "
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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
Content Summary
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.
- Page last reviewed:Feb 1, 2024
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