Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.
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From a Fledgling Genetic Science, A Murky Market for Prediction
A Smart, Undark, October 27, 2023
From the article: "Although polygenic scores alone may not be powerful predictors of disease, many researchers are optimistic that they can be combined with other, more conventional methods of risk estimation to improve screening for common conditions like cancer, cardiovascular diseases, and diabetes.
At the same time, however, a chorus of experts say that society should temper any expectations that polygenic scores will revolutionize health care. "
The value of standards for health datasets in artificial intelligence-based applications.
Anmol Arora et al. Nat Med 2023 10
From the abstract: "Artificial intelligence as a medical device is increasingly being applied to healthcare for diagnosis, risk stratification and resource allocation. However, a growing body of evidence has highlighted the risk of algorithmic bias, which may perpetuate existing health inequity. This problem arises in part because of systemic inequalities in dataset curation, unequal opportunity to participate in research and inequalities of access. "
Personalized Initial Screening Age for Colorectal Cancer in Individuals at Average Risk.
Xuechen Chen et al. JAMA Netw Open 2023 10 (10) e2339670
From the abstract: "How can risk variation in individuals without a family history of colorectal cancer (CRC) be translated into personalized starting ages of screening? In this cohort study of 242?779 participants with no previous screening for and no family history of CRC, derivation of risk-adapted starting ages of screening used 2 major CRC risk indicators, sex and a polygenic risk score (PRS), based on the risk advancement period concept. Risk-adapted starting ages varied by as much as 24 years between men in the highest PRS decile and women in the lowest PRS decile, even among individuals at average risk. "
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
Elaine Chen et al. JAMA Netw Open 2023 10 (10) e2339571
From the abstract: " How are variants of uncertain significance (VUSs) distributed across genetic disorders and what evidence contributes to their resolution?
In this cohort study of 1?689?845 individuals who predominantly underwent multigene panel testing, 41% had VUSs (mostly missense changes), most often among those who underwent testing for disorders with incomplete penetrance or were identified as Asian or Shephardic Jewish individuals. Among unique VUSs, 7.3% were reclassified, with most reclassified as benign, often using clinical and experimental evidence."