Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Search PHGKB:

Last Posted: Apr 19, 2024
spot light Highlights

Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review

From the abstract: "A large proportion of patients with sickle cell disease (SCD) identify as Black or African American (AA). Social bias and stigma in healthcare outcomes for children with SCD are impossible to explore without considering the impact of racial/cultural identity, socioeconomic status (SES), and geography. It is important to understand the current influences of social movements, expanded health insurance coverage, and telehealth on these variables when considering healthcare outcomes for patients with SCD. "

Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.
Mariam Kayle et al. MMWR Morb Mortal Wkly Rep 2024 3 (12) 248-254

From the abstract: " Sickle cell disease (SCD) remains a public health priority in the United States because of its association with complex health needs, reduced life expectancy, lifelong disabilities, and high cost of care. A cross-sectional analysis was conducted to calculate the crude and race-specific birth prevalence for SCD using state newborn screening program records during 2016-2020 from 11 Sickle Cell Data Collection program states. The percentage distribution of birth mother residence within Social Vulnerability Index quartiles was derived. Among 3,305 newborns with confirmed SCD (including 57% with homozygous hemoglobin S or sickle ß-null thalassemia across 11 states, 90% of whom were Black or African American [Black], and 4% of whom were Hispanic or Latino), the crude SCD birth prevalence was 4.83 per 10,000 (one in every 2,070) live births and 28.54 per 10,000 (one in every 350) non-Hispanic Black newborns. "

Sickle Cell Disease Approvals Include First CRISPR Gene Editing Therapy
E Harris, JAMA, January 3, 2024

From the article: "The US Food and Drug Administration (FDA) recently greenlit 2 cell-based gene treatments for sickle cell anemia, including the first therapy involving the genome editing technology known as CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats–CRISPER-associated protein 9). Both treatments are approved for people aged 12 years or older and work by modifying people’s own blood stem cells and then transplanting them into their bodies via a single-dose infusion. They change blood cells in different ways, though. "

Genomic medicine year in review: 2023.
Teri A Manolio et al. Am J Hum Genet 2023 12 (12) 1992-1995

From the article: "Highlighted papers in genomic medicine implementation research in 2023 continued several themes from earlier years, particularly in diagnostic testing of critically ill infants, genetic diagnosis of rare syndromes, and prenatal and population-based screening for monogenic syndromes. Pharmacogenomics was also highlighted with the first large-scale, multi-country clinical trial of multiple gene-drug pairs. The success of the first CRISPR-Cas9-based therapeutic trial in sickle cell disease and the independence of polygenic risk scores and family history in complex disease risk assessment were also highlighted, as were the high rate of insurance denials for exome sequencing that frequently turned out to be diagnostic. "

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.