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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Archived Hot Topics of the Day By Date
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne Muscular Dystrophy.
A Singer et al, Genetics in Medicine, September 12, 2023
From the abstract: " Of overall 85,737 DMD tests, 82 clinically significant findings were noted (0.095%, or 1:1046 women). In addition, 80 findings with uncertain clinical significance were detected (0.093%, or 1:1072), as well as 373 cases (0.4%, or 1:230) of single exon deletions subsequently identified as false-positives due to underlying single nucleotide variant, mostly variants in exon 8 in North African Jewish population, and in exon 48 in Arab Muslim population."
A deep learning-based electrocardiogram risk score for long term cardiovascular death and disease
JW Hughes et al, NPJ Digital Medicine, September 12, 2023
From the abstract: "The electrocardiogram (ECG) is the most frequently performed cardiovascular diagnostic test, but it is unclear how much information resting ECGs contain about long term cardiovascular risk. Here we report that a deep convolutional neural network can accurately predict the long-term risk of cardiovascular mortality and disease based on a resting ECG alone."
Considerations for addressing bias in artificial intelligence for health equity
Abramoff MD, et al, NPJ Digital Medicine, September 12, 2023
From the abstract: "Health equity is a primary goal of healthcare stakeholders: patients and their advocacy groups, clinicians, other providers and their professional societies, bioethicists, payors and value based care organizations, regulatory agencies, legislators, and creators of artificial intelligence/machine learning (AI/ML)-enabled medical devices. Lack of equitable access to diagnosis and treatment may be improved through new digital health technologies, especially AI/ML, but these may also exacerbate disparities, depending on how bias is addressed. "
Consumers Can Now Buy a Blood Test to Evaluate Their Alzheimer Disease Risk, but Should They?
R Rubin, JAMA, September 13, 2023
From the article: " AD-Detect Test for Alzheimer Disease is the first blood test available for consumers to purchase that measures a biomarker linked to the most common form of dementia. The test uses liquid chromatography–tandem mass spectrometry to assess the ratio of 2 amyloid-ß peptides, 42 and 40, in plasma. Amyloid deposits in the brain are a hallmark of Alzheimer disease, although many people who have them don’t develop cognitive impairment. Some neurologists and at least 1 bioethicist question the wisdom of marketing such a test to physicians, let alone to consumers. The test might not be ready for prime time, they say, expressing concern about the test’s accuracy as well as how consumers might interpret its results."
CDC Recommends Updated COVID-19 Vaccine for Fall/Winter Virus Season
CDC, September 12, 2023
CDC recommends everyone 6 months and older get an updated COVID-19 vaccine to protect against the potentially serious outcomes of COVID-19 illness this fall and winter. Updated COVID-19 vaccines from Pfizer-BioNTech and Moderna will be available later this week. Vaccination remains the best protection against COVID-19-related hospitalization and death. Vaccination also reduces your chance of suffering the effects of Long COVID, which can develop during or following acute infection and last for an extended duration.? If you have not received a COVID-19 vaccine in the past 2 months, get an updated COVID-19 vaccine to protect yourself this fall and winter.