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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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25518 hot topic(s) found with the query "All"

Going Once? Going Twice? Vaccinated!
CDC COVID Data Tracker Weekly Review, May 7, 2021 Brand (Posted: May-07-2021 2PM)

While more than 8 in 10 people 65 years and older have received at least one dose of vaccine, only around 1 in 3 people ages 18-29 have. All age groups currently eligible for the vaccine can benefit from the protection it provides themselves and others, especially as more states are easing prevention measures.

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease
G Liu et al, Nature Genetics, May 6, 2021 (Posted: May-07-2021 10AM)

We performed a longitudinal genome-wide survival study of 11.2 million variants in 3,821 patients with PD over 31,053 visits. We discover RIMS2 as a progression locus and confirm this in a replicate population (hazard ratio (HR)?=?4.77, P?=?2.78?×?10-11), identify suggestive evidence for TMEM108 (HR?=?2.86, P?=?2.09?×?10-8) and WWOX (HR?=?2.12, P?=?2.37?×?10-8) as progression loci, and confirm associations for GBA (HR?=?1.93, P?=?0.0002) and APOE (HR?=?1.48, P?=?0.001). Polygenic progression scores exhibit a substantial aggregate association with dementia risk.

Pfizer COVID vaccine protects against worrying coronavirus variants- Data from Qatar provide strongest evidence yet that COVID-19 vaccines can stop strains thought to pose a threat to immunization efforts.
E Callaway, Nature, May 6, 2021 (Posted: May-07-2021 10AM)

Researchers Tie Severe Immunosuppression to Chronic COVID-19 and Virus Variants.
Abbasi Jennifer et al. JAMA 2021 5 (Posted: May-07-2021 9AM)

Antibody Response to 2-Dose SARS-CoV-2 mRNA Vaccine Series in Solid Organ Transplant Recipients.
Boyarsky Brian J et al. JAMA 2021 5 (Posted: May-07-2021 9AM)

In this study of the humoral response to 2 doses of mRNA SARS-CoV-2 vaccine among solid organ transplant recipients, the majority had detectable antibody responses after the second dose, although participants without a response after dose 1 had generally low antibody levels. Poor humoral response was persistently associated with use of antimetabolite immunosuppression.

Asymptomatic and Symptomatic SARS-CoV-2 Infections After BNT162b2 Vaccination in a Routinely Screened Workforce.
Tang Li et al. JAMA 2021 5 (Posted: May-07-2021 9AM)

This study found an association between vaccination with BNT162b2 in hospital employees and a decreased risk of symptomatic and asymptomatic infections with SARS-CoV-2.

Association Between Vaccination With BNT162b2 and Incidence of Symptomatic and Asymptomatic SARS-CoV-2 Infections Among Health Care Workers.
Angel Yoel et al. JAMA 2021 5 (Posted: May-07-2021 9AM)

In this retrospective cohort study conducted in Tel Aviv, Israel, that included 6710 health care workers who underwent periodic testing for SARS-CoV-2 infection, vaccination with the BNT162b2 vaccine was associated with an adjusted incidence rate ratio of 0.03 for symptomatic infection and 0.14 for asymptomatic infection more than 7 days after the second dose. Both incidence rate ratios were statistically significant.

Derivation and external validation of a simple risk score to predict in-hospital mortality in patients hospitalized for COVID-19
CZ Mann et al, MEDRXIV, May 6, 2021 (Posted: May-07-2021 9AM)

Artificial intelligence–enabled electrocardiograms for identification of patients with low ejection fraction: a pragmatic, randomized clinical trial
X Yao et al, Nature Medicine, May 6, 2021 (Posted: May-06-2021 0PM)

We conducted a pragmatic clinical trial aimed to assess whether an electrocardiogram (ECG)-based, artificial intelligence (AI)-powered clinical decision support tool enables early diagnosis of low ejection fraction (EF), a condition that is underdiagnosed but treatable. We find that the use of an AI algorithm based on ECGs can enable the early diagnosis of low EF in patients in the setting of routine primary care.

Laboratory business models and practices: implications for availability and access to germline genetic testing
MT Scheuner et al, Genetics in Medicine, May 6, 2021 (Posted: May-06-2021 0PM)

Continued availability of, and access to germline testing will depend on the financial success of laboratories; organizational characteristics of laboratories and payers; cultural factors, particularly consumer interest and trust; and societal factors, such as regulation and laws surrounding pricing and reimbursement.

Failure of genetic therapies for Huntington’s devastates community- Hopes were high for drugs designed to lower levels of a mutant protein, but development has stalled.
D Kwon, Nature News, May 5, 2021 (Posted: May-06-2021 0PM)

Two pharmaceutical companies have halted clinical trials of gene-targeting therapies for Huntington’s disease (HD), following the drugs’ disappointing performance. Researchers had hoped that the treatments — known as antisense oligonucleotides (ASOs) — would be a game changer for HD, an incurable genetic condition that affects cognition, behavior and movement. But back-to-back announcements have dealt a crushing blow to those affected by the disease.

Translating the human microbiome: a path to improving health
RJ Xavier et al, Genome Medicine, May 5, 2021 (Posted: May-06-2021 0PM)

New studies are charting community-wide ecological maps that provide insight into microbial determinants of health and disease, layering in impacts of the microbiome at different life stages. Although much is known about early microbiome development, trajectories during aging and later in life require further characterization.

This New Covid Vaccine Could Bring Hope to the Unvaccinated World - The German company CureVac hopes its RNA vaccine will rival those made by Moderna and Pfizer-BioNTech. It could be ready next month.
C Zimmer, NY Times, May 5, 2021 (Posted: May-06-2021 7AM)

Moderna booster increases antibodies against COVID-19 variants, early data shows
C O'Donnell, Reuters, May 6, 2021 (Posted: May-06-2021 7AM)

Efficacy of NVX-CoV2373 Covid-19 Vaccine against the B.1.351 Variant.
Shinde Vivek et al. The New England journal of medicine 2021 5 (Posted: May-06-2021 7AM)

Vaccine efficacy among HIV-negative participants was 60.1% (95% CI, 19.9 to 80.1). Of 41 sequenced isolates, 38 (92.7%) were the B.1.351 variant. Post hoc vaccine efficacy against B.1.351 was 51.0% (95% CI, -0.6 to 76.2) among the HIV-negative participants. Preliminary local and systemic reactogenicity events were more common in the vaccine group; serious adverse events were rare in both groups.

Effectiveness of the BNT162b2 Covid-19 Vaccine against the B.1.1.7 and B.1.351 Variants.
Abu-Raddad Laith J et al. The New England journal of medicine 2021 5 (Posted: May-06-2021 7AM)

The estimated effectiveness of the vaccine against any documented infection with the B.1.1.7 variant was 89.5% (95% confidence interval [CI], 85.9 to 92.3) at 14 or more days after the second dose (Table 1 and Table S2). The effectiveness against any documented infection with the B.1.351 variant was 75.0% (95% CI, 70.5 to 78.9). Vaccine effectiveness against severe, critical, or fatal disease due to infection with any SARS-CoV-2 (with the B.1.1.7 and B.1.351 variants being predominant within Qatar) was very high, at 97.4% (95% CI, 92.2 to 99.5).

Interplay between Emerging SARS-CoV-2 Variants and Pandemic Control.
Neuzil Kathleen M et al. The New England journal of medicine 2021 5 (Posted: May-06-2021 7AM)

The emergence of variant strains is arguably the greatest threat to control of the Covid-19 pandemic. A coordinated global prevention-and-control plan is the only way forward. Global investments in vaccine science and technology must be accompanied by investments in public health, genomic and disease surveillance, and programmatic immunization infrastructure to mitigate the effects of Covid-19 and future pandemics.

Covid-19: Studies Indicate Pfizer-BioNTech Vaccine Protects Against the Most Severe Outcomes of Some Virus Variants
NY Times, May 6, 2021 (Posted: May-06-2021 7AM)

Modeling of Future COVID-19 Cases, Hospitalizations, and Deaths, by Vaccination Rates and Nonpharmaceutical Intervention Scenarios — United States, April–September 2021
RK Borchering et al, MMWR, May 5, 2021 (Posted: May-05-2021 11AM)

Data from six models indicate that with high vaccination coverage and moderate NPI adherence, hospitalizations and deaths will likely remain low nationally, with a sharp decline in cases projected by July 2021. Lower NPI adherence could lead to substantial increases in severe COVID-19 outcomes, even with improved vaccination coverage.

Identification of and Surveillance for the SARS-CoV-2 Variants B.1.427 and B.1.429 — Colorado, January–March 2021
LM Webb et al, CDC MMWR, May 5, 2021 (Posted: May-05-2021 11AM)

By March 31, CDPHE reported 327 COVID-19 B.1.427/B.1.429 cases with specimen collection dates during January 4–March 20, including 90 (28%) B.1.427, 218 (67%) B.1.429, and 19 (6%) not differentiated by the reporting commercial laboratory. B.1.427/B.1.429 case sequences were identified a median of 14.5 days after specimen collection (range = 7–38 days). Median patient age was 39 years (range = <1–95 years); 186 (57%) patients were male. Cases were identified in 31 (48%) of Colorado’s 64 counties. Enhanced interviewing of all patients with variant cases was attempted through February; 60 (83%) such interviews were completed. Among these, nine (15%) persons reported travel outside Colorado

Rapid Emergence and Epidemiologic Characteristics of the SARS-CoV-2 B.1.526 Variant — New York City, New York, January 1–April 5, 2021
CN THompson et al, CDC MMWR, May 5, 2021 (Posted: May-05-2021 11AM)

The NYC Department of Health and Mental Hygiene analyzed laboratory and epidemiologic data to characterize cases of B.1.526 infection and the associated potential for breakthrough infection and reinfection. Preliminary evidence suggests that, to date, B.1.526 does not lead to more severe disease or increased risk for infection after vaccination. Rapid integration of whole genome sequencing and population-based surveillance data is critical to characterizing new SARS-CoV-2 variants.

SARS-CoV-2 Variant Classifications and Definitions
CDC, May 5, 2021 (Posted: May-05-2021 11AM)

A US government interagency group developed a Variant Classification scheme that defines three classes of SARS-CoV-2 variants: variant of interest, variant of concern, variant of high consequence. The B.1.526, B.1.526.1, B.1.525, B.1.617, B.1.617.1, B.1.617.2, B.1.617.3, and P.2 variants circulating in the United States are classified as variants of interest. The B.1.1.7, B.1.351, P.1, B.1.427, and B.1.429 variants circulating in the United States are classified as variants of concern. To date, no variants of high consequence have been identified in the United States.

SARS-CoV-2 Genome Sequencing Methods Differ In Their Ability To Detect Variants From Low Viral Load Samples
C Lam et al, BIORXIV, May 3, 2021 (Posted: May-05-2021 8AM)

Forecasting COVID-19 Spreading in Canada using Deep Learning
F Khennou et al, MEDRXIV, May 4, 2021 (Posted: May-05-2021 8AM)

Tracking the emergence of disparities in the subnational spread of COVID-19 in Brazil using an online application for real-time data visualisation
P Mee et al, MEDRXIV May 4, 2021 (Posted: May-05-2021 8AM)

COVID-19 monitoring in rural communities: First comparison of lagoon and pumping station samples for wastewater-based epidemiology
PM D'Aoust et al, MEDRXIV, May 4, 2021 (Posted: May-05-2021 8AM)

Infection Units: A novel approach to the modeling of COVID-19 spread
JC Merchuk et al, MEDRXV, May 4, 2021 (Posted: May-05-2021 7AM)

Distinct patterns of blood cytokines beyond a cytokine storm predict mortality in COVID-19
C Herr et al, MEDRXIV, May 4, 2021 (Posted: May-05-2021 7AM)

Modeling and Predicting Antibody Durability for mRNA-1273 Vaccine for SARS-CoV-2 Variants
G Luo et al, MEDRXIV, May 4, 2021 (Posted: May-05-2021 7AM)

Risk of colorectal cancer in first degree relatives of patients with colorectal polyps: nationwide case-control study in Sweden
M Song et al, BMJ May 2021 (Posted: May-05-2021 7AM)

After adjusting for family history of CRC, the siblings and children of patients with colorectal polyps are still at higher risk of CRC, particularly early onset CRC. Early screening for CRC might be considered for first degree relatives of patients with polyps.

First genetically modified mosquitoes released in the United States
E Watz, Nature News, May 4, 2021 (Posted: May-05-2021 7AM)

After a decade of fighting for regulatory approval and public acceptance, a biotechnology firm has released genetically engineered mosquitoes into the open air in the United States for the first time. The experiment, launched this week in the Florida Keys tests a method for suppressing populations of wild Aedes aegypti mosquitoes, which can carry diseases such as Zika, dengue, chikungunya and yellow fever.

Cooperative AI: machines must learn to find common ground
A Dafoe et al, Nature, May 4, 2021 (Posted: May-05-2021 7AM)

Artificial-intelligence assistants and recommendation algorithms interact with billions of people every day, influencing lives in myriad ways, yet they still have little understanding of humans. To help humanity solve fundamental problems of cooperation, scientists need to reconceive artificial intelligence as deeply social.

Next generation plasma proteome profiling to monitor health and disease
W Zhong et al, Nature Comms, May 3, 2021 (Posted: May-05-2021 7AM)

The need for precision medicine approaches to monitor health and disease makes it important to develop sensitive and accurate assays for proteome profiles in blood. Here, we describe an approach for plasma profiling based on proximity extension assay combined with next generation sequencing.

Testing at scale during the COVID-19 pandemic
TR Mercer et al, Nature Rev Genetics, May 4, 2021 (Posted: May-04-2021 3PM)

This Review describes the changing role of testing during the COVID-19 pandemic, including the use of genomic surveillance to track SARS-CoV-2 transmission around the world, the use of contact tracing to contain disease outbreaks and testing for the presence of the virus circulating in the environment. Despite these efforts, widespread community transmission has become entrenched in many countries and has required the testing of populations to identify and isolate infected individuals, many of whom are asymptomatic.

Ensuring that biomedical AI benefits diverse populations
J Zhou et al, E Biomedicine, May 4, 2021 (Posted: May-04-2021 3PM)

Artificial Intelligence (AI) can potentially impact many aspects of human health, from basic research discovery to individual health assessment. It is critical that these advances in technology broadly benefit diverse populations from around the world. This can be challenging because AI algorithms are often developed on non-representative samples and evaluated based on narrow metrics. Here we outline key challenges to biomedical AI in outcome design, data collection and technology evaluation, and use examples from precision health to illustrate how bias and health disparity may arise.

A urinary peptidomic profile predicts outcome in SARS-CoV-2-infected patients
R Wendt et al, E CLinical Medicine, May 3, 2021 (Posted: May-04-2021 2PM)

This multicentre (six European study sites) Prospective Validation of a Proteomic Urine Test for Early and Accurate Prognosis of Critical Course Complications in Patients with SARS-CoV-2 Infection Study (Crit-COV-U) is recruiting consecutive patients (= 18 years) with PCR-confirmed SARS-CoV-2 infection. A urinary proteomic biomarker (COV50) developed by capillary-electrophoresis-mass spectrometry (CE-MS) technology, comprising 50 sequenced peptides and identifying the parental proteins, was evaluated in 228 patients (derivation cohort) with replication in 99 patients (validation cohort).

AI to expand the reach of oncology trials- Data-driven clinical trial simulation could help to optimize inclusion criteria
Nature Medicine, April 29, 2021 (Posted: May-03-2021 0PM)

Defining eligibility criteria for oncology trials involves a balance, weighing the necessity for patient safety against the desire for generalizable results relevant to real-world patients. However, certain trial exclusion criteria may be unnecessarily restrictive. Artificial intelligence allows for prediction of clinical outcomes-based hypothetical scenarios.

Biomarker approach harnessed in trials of personalized medicine for bladder cancer
N Dizman et al, Nature Medicine, May 3, 2021 (Posted: May-03-2021 0PM)

A multi-arm clinical trial reports results of testing a strategy for the treatment of bladder cancer that uses standard immunotherapy plus biomarker assessment and targeted therapies.

The 2019 US medical genetics workforce: a focus on clinical genetics
BD Jenkins et al, Genetics in Medicine, May 3, 2021 (Posted: May-03-2021 0PM)

Of the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years.

Evidence for the utility of cfDNA plasma concentrations to predict disease severity in COVID-19
K Hoeter et al, MEDRXIV, May 2, 2021 (Posted: May-03-2021 0PM)

Modelling digital and manual contact tracing for COVID-19. Are low uptakes and missed contacts deal-breakers?
A Rusu et al, MEDRXIV, May 2, 2021 (Posted: May-03-2021 0PM)

LY-CoV1404 potently neutralizes SARS-CoV-2 variants
K Westendrof et al, BIORXIV, April 30, 2021 (Posted: May-02-2021 0PM)

N440K variant of SARS-CoV-2 has Higher Infectious Fitness
D Tandel et al, BIORXIV, April 30, 2021 (Posted: May-02-2021 0PM)

SARS-CoV-2 bearing a mutation at the S1/S2 cleavage site exhibits attenuated virulence and confers protective immunity
M Sasaki et al, BIORXIV April 30, 2021 (Posted: May-02-2021 0PM)

Neutralization of B.1.1.28 P2 variant with sera of natural SARS-CoV-2 infection and recipients of BBV152 vaccine
G Sapkal et al, BIORXIV, April 30, 2021 (Posted: May-02-2021 0PM)

COMETS Analytics: An online tool for analyzing and meta-analyzing metabolomics data in large research consortia
M Temprosa et al, AM J Epidemiology, April 2021 (Posted: May-02-2021 0PM)

The application requires no specialized expertise and can be run locally to guarantee data protection or through a web-based server for convenience and speed. Unlike other web-based tools, COMETS Analytics enables standardized models to be run across all cohorts, using an algorithmic, reproducible approach to diagnose, document, and fix model issues.

Ethnic differences in SARS-CoV-2 infection and COVID-19-related hospitalisation, intensive care unit admission, and death in 17 million adults in England: an observational cohort study using the OpenSAFELY platform
R Mathur et al, The Lancet, April 30, 2021 (Posted: May-02-2021 0PM)

Of 17?288?532 adults included in the study (excluding care home residents), 10?877?978 (62·9%) were White. Minority ethnic populations in England have excess risks of testing positive for SARS-CoV-2 and of adverse COVID-19 outcomes compared with the White population, even after accounting for differences in sociodemographic, clinical, and household characteristics.

Single-tube collection and nucleic acid analysis of clinical samples: a rapid approach for SARS-CoV-2 saliva testing
KH Cole et al, MEDRXIV, APril 30, 2021 (Posted: May-02-2021 0PM)

COVID-19 Outcomes and Sequencing of SARS-CoV-2 isolated from Veterans in New England
M Lee et al, MEDRXIV, April 30, 2021 (Posted: Apr-30-2021 7PM)

There are Different COVID-19 Vaccines
CDC, April 30, 2021 Brand (Posted: Apr-30-2021 7PM)

Some COVID-19 vaccines need 1 dose. Some COVID-19 vaccines need 2 doses. Some COVID-19 vaccines are for people ages 16 and older. Some COVID-19 vaccines are for people ages 18 and older. All COVID-19 vaccines teach your body to fight COVID-19. All COVID-19 vaccines need 14 days to teach your body.

Prior SARS-CoV-2 infection rescues B and T cell responses to variants after first vaccine dose
CJ Reynolds et al, Science, April 23, 2021 (Posted: Apr-30-2021 7PM)

We analyzed T and B cell responses after first dose vaccination with the Pfizer/BioNTech mRNA vaccine BNT162b2 in healthcare workers (HCW) followed longitudinally, with or without prior Wuhan-Hu-1 SARS-CoV-2 infection. After one dose, individuals with prior infection showed enhanced T cell immunity, antibody secreting memory B cell response to spike and neutralizing antibodies effective against B.1.1.7 and B.1.351. By comparison, HCW receiving one vaccine dose without prior infection showed reduced immunity against variants. B.1.1.7 and B.1.351 spike mutations resulted in increased, abrogated or unchanged T cell responses depending on human leukocyte antigen (HLA) polymorphisms

Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
EG Allen et al, Genetics in Medicine, April 29, 2021 (Posted: Apr-30-2021 7PM)

Women with 70-100 CGG repeats were at the highest risk for FXPOI using various statistical models to compare average age at menopause and risk of FXPOI, with women with 85-89 repeats being at the highest risk. Importantly, women with <65 repeats or >120 repeats did not have a significantly increased risk for FXPOI compared to women with <45 repeats.

A molecular single-cell lung atlas of lethal COVID-19
JC Melms et al, Nature, April 29, 2021 (Posted: Apr-29-2021 11AM)

Respiratory failure is the leading cause of death in patients with severe SARS-CoV-2 infection1,2, yet the host response at the lung tissue-level is poorly understood. Here, we performed single-nucleus RNA-sequencing of ~116,000 nuclei of lungs from 19 COVID-19 decedents who underwent rapid autopsy and 7 control lungs. Integrated analyses revealed significant alterations in cellular composition, transcriptional cell states, and cell-to-cell interactions, providing insights into the biology of lethal COVID-19.

Milestone stem cell transplant helps child beat rare disease
D Sashin, Stanford Scope, April 28, 2021 (Posted: Apr-29-2021 10AM)

Nine-year-old Shriya recently learned to ride a scooter. That was a big deal for a girl who, not so long ago, spent 14 hours a day on dialysis for kidney failure and could run only a few steps before getting tired. Every parent thinks their child is one in a million, but Shriya truly is. She was born with Schimke immuno-osseous dysplasia, a genetic, multisystem disorder affecting just one in a million children in North America. Children with the disease have shortened limbs and trunks, immune system problems and kidney disease. They historically have lived an average of nine years.

Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series
TT Truong et al, EBiomedicine, April 26, 2021 (Posted: Apr-29-2021 9AM)

We found compelling evidence of ongoing replication and infectivity for up to 162 days from initial positive by subgenomic RNA, single-stranded RNA, and viral culture analysis. Our results reveal a broad spectrum of infectivity, host immune responses, and accumulation of mutations, some with the potential for immune escape.

How do non-geneticist physicians deal with genetic tests? A qualitative analysis.
Pasquier Laurent et al. European journal of human genetics : EJHG 2021 4 (Posted: Apr-29-2021 7AM)

We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results.

Digital Display Precision Predictor: the prototype of a global biomarker model to guide treatments with targeted therapy and predict progression-free survival
V Lazar et al, NPJ Precision Oncology, April 28, 2021 (Posted: Apr-29-2021 7AM)

We present the algorithm, Digital Display Precision Predictor (DDPP), aiming to identify transcriptomic predictors of treatment outcome. For example, 17 and 13 key genes were derived from the literature by their association with MTOR and angiogenesis pathways, respectively, and their expression in tumor versus normal tissues was associated with the progression-free survival (PFS) of patients treated with everolimus or axitinib (respectively) using DDPP

Response to Polygenic Risk: Results of the MyGeneRank Mobile Application-Based Coronary Artery Disease Study
ED Muse et al, MEDRXIV, April 28, 2021 (Posted: Apr-29-2021 7AM)

We evaluated self-reported actions taken in response to personal CAD PRS information, with special interest in the initiation of lipid lowering therapy. 20% of high genetic risk (n=95) vs 7.9% of low genetic risk individuals (n=101) initiated lipid lowering therapy at follow-up (p-value = 0.002). The initiation of both statin and non-statin lipid lowering therapy was associated with degree of genetic risk.

The central role of DNA damage in the aging process
B Schumaker et al, Nature, April 28, 2021 (Posted: Apr-29-2021 7AM)

We synthesize accumulating evidence that DNA damage affects most, if not all, aspects of the ageing phenotype, making it a potentially unifying cause of ageing. Targeting DNA damage and its mechanistic links with the ageing phenotype will provide a logical rationale for developing unified interventions to counteract age-related dysfunction and disease.

The privacy challenge in the race for digital vaccination certificates
A Rieger et al, Cell (Med), April 28, 2021 (Posted: Apr-29-2021 7AM)

Spread of a Variant SARS-CoV-2 in Long-Term Care Facilities in England.
Krutikov Maria et al. The New England journal of medicine 2021 3 (Posted: Apr-29-2021 7AM)

Of 143,994 samples obtained from staff and residents of long-term care facilities throughout England, 4442 (3.1%) were positive for at least one gene target on PCR assay. Overall, the total number and proportion of positive samples with S gene target failure increased from 70 of 582 (12.0%) to 491 of 813 (60.4%) between November 16 and December 13.

Beyond the First Dose - Covid-19 Vaccine Follow-through and Continued Protective Measures.
Goldfarb Jillian L et al. The New England journal of medicine 2021 4 (Posted: Apr-29-2021 7AM)

Despite current efforts, many Americans, including many of those who have already received a first vaccine dose, remain confused about the timing of protection and the necessity of a second dose. Moreover, a large proportion of vaccinees report being uninformed about guidance regarding the need to continue to take prophylactic measures including mask wearing and avoiding crowds.

Physician Perceptions of Surveillance: Wearables, Apps, and Bots for COVID-19
AR Limares et al, MEDRXIV, April 28, 2021 (Posted: Apr-29-2021 7AM)

Development of a Real-Time Risk Model (RTRM) for Predicting In-Hospital COVID-19 Mortality
D Schlauch et al, MEDRXIV, April 28, 2021 (Posted: Apr-29-2021 7AM)

Therapeutic effect of CT-P59 against SARS-CoV-2 South African variant
SY Lee et al, BIORXIV, April 28, 2021 (Posted: Apr-29-2021 7AM)

India's Dire COVID-19 Situation Likely to Worsen. Could It Happen Here?
D McNamara, Medscape, April 27, 2021 (Posted: Apr-28-2021 0PM)

Symptom study app provides real-world data on COVID-19 vaccines
RE Drury et al, Lancet Infectious Diseases, April 27, 2021 (Posted: Apr-28-2021 0PM)

A new study provides valuable information to health-care professionals and the general public on vaccine reactogenicity and effectiveness in the community setting. In this era of rapid dissemination of information, good science communication has a crucial role to play in strengthening public confidence in vaccines and thus maximizing vaccine uptake.

Vaccine side-effects and SARS-CoV-2 infection after vaccination in users of the COVID Symptom Study app in the UK: a prospective observational study
C Menni et al, Lancet Infectious Diseases, April 27, 2021 (Posted: Apr-28-2021 0PM)

We examined the proportion and probability of self-reported systemic and local side-effects within 8 days of vaccination in individuals using the COVID Symptom Study app who received one or two doses of the BNT162b2 vaccine or one dose of the ChAdOx1 nCoV-19 vaccine. Systemic and local side-effects after vaccination occur at frequencies lower than reported in phase 3 trials. Both vaccines decrease the risk of SARS-CoV-2 infection after 12 days.

Effectiveness of Pfizer-BioNTech and Moderna Vaccines Against COVID-19 Among Hospitalized Adults Aged ≥65 Years — United States, January–March 2021
MW Tenford et al, MMWR, April 28, 2021 (Posted: Apr-28-2021 11AM)

In a multistate network of U.S. hospitals during January–March 2021, receipt of Pfizer-BioNTech or Moderna COVID-19 vaccines was 94% effective against COVID-19 hospitalization among fully vaccinated adults and 64% effective among partially vaccinated adults aged =65 years.

Glucose-6-phosphate dehydrogenase activity in individuals with and without malaria: Analysis of clinical trial, cross-sectional and case-control data from Bangladesh.
Ley Benedikt et al. PLoS medicine 2021 4 (4) e1003576 (Posted: Apr-28-2021 11AM)

Patients with acute malaria had significantly higher G6PD activity than individuals without malaria, and this could not be accounted for by a protective effect of G6PD deficiency. G6PD-deficient patients with malaria may have higher than expected G6PD enzyme activity and an attenuated risk of primaquine-induced hemolysis compared to the risk when not infected.

The changing epidemiology of Plasmodium vivax: Insights from conventional and novel surveillance tools.
Auburn Sarah et al. PLoS medicine 2021 4 (4) e1003560 (Posted: Apr-28-2021 11AM)

Genetic tools to study the spatial and temporal patterns of P. vivax transmission in different endemicities and ultrasensitive PCR (uPCR)-based techniques are expanding our knowledge of the magnitude and biology of low-density P. vivax infections. Serology offers alternative ways of detecting recent P. vivax infections and monitoring of the impact of public health interventions at very low endemicity.

A Global Call to Action – Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia
The FH Foundation, April 21, 2021 (Posted: Apr-28-2021 8AM)

Healthcare systems around the world have failed to rescue individuals born with Familial Hypercholesterolemia (FH), even though we have had life-saving therapies for the last 34 years. Without the societal commitment to screen, diagnose, and manage FH, the opportunity to prevent heart disease and stroke for an entire generation has been lost.

New Research to Improve Screening for FH
The FH Foundation, April 27, 2021 (Posted: Apr-28-2021 8AM)

A strategic imperative is to increase FH diagnosis and improve the rate of cascade screening. In addition to the progress we recently reported from the IMPACT FH study with Geisinger, we are proud to report the latest research that highlights the potential to improve cascade screening by utilizing direct contact of relatives through the FH Foundation.

Association of ABO blood group with COVID-19 severity, acute phase reactants and mortality
J Malik et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 7AM)

A Mongelli et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 7AM)

Predicting daily COVID-19 case rates from SARS-CoV-2 RNA concentrations across a diversity of wastewater catchments
A Zulli et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 6AM)

Effects of B.1.1.7 and B.1.351 on COVID-19 dynamics. A campus reopening study
K Linka et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 6AM)

Interleukin-6 receptor genetic variation and tocilizumab treatment response to COVID-19
AA Almarzook, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 6AM)

It's complicated: characterizing the time-varying relationship between cell phone mobility and COVID-19 spread in the US
S Jewell et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 6AM)

Clinical validation of RCSMS: a rapid and sensitive CRISPR-Cas12a test for the molecular detection of SARS-CoV-2 from saliva
J AbuGhattas et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 6AM)

Rapid and simultaneous identification of three mutations by the NovaplexTM SARS-CoV-2 Variants I Assay kit
W Kami et al, MEDRXIV, April 27, 2021 (Posted: Apr-28-2021 6AM)

A Hybrid Model for Family History Information Identification and Relation Extraction: Development and Evaluation of an End-to-End Information Extraction System.
Kim Youngjun et al. JMIR medical informatics 2021 9(4) e22797 (Posted: Apr-27-2021 9AM)

Family history information is important to assess the risk of inherited medical conditions. Natural language processing has the potential to extract this information from unstructured free-text notes to improve patient care and decision making. We describe the end-to-end information extraction system the Medical University of South Carolina team developed when participating in the 2019 National Natural Language Processing Clinical Challenge (n2c2)/Open Health Natural Language Processing (OHNLP) shared task.

Convergence of Precision Medicine and Public Health Into Precision Public Health: Toward a Big Data Perspective.
Velmovitsky Pedro Elkind et al. Frontiers in public health 2021 9561873 (Posted: Apr-27-2021 9AM)

With the coming of Big Data, the fields of precision medicine and public health are converging into precision public health, the study of biological and genetic factors supported by large amounts of population data. In this paper, we explore through a comprehensive review the data types and use cases found in precision medicine and public health.

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
R Restuadi et al, EJHG, April 27, 2021 (Posted: Apr-27-2021 8AM)

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
S Pollard et al, EJHG, April 26, 2021 (Posted: Apr-27-2021 8AM)

33 parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes.

GWAS Diversity Monitor
NHGRI-EMBL GWAS Catalog, April 2021 (Posted: Apr-27-2021 8AM)

This interactive dashboard monitors the diversity of participants across all published Genome Wide Association Studies (GWAS), the primary technique used for genetic discovery. The objective of a GWAS is to identify statistical associations between a set of genetic variants across different individuals (Single Nucleotide Polymorphisms, or 'SNPs') with specific traits of interest.

Join Us in Celebrating Public Health Genetics!
Public Health Genetics Week, May 24-28, 2021 (Posted: Apr-27-2021 8AM)

Public health genetics applies genetic and genomic information to improve public health and prevent disease. Public health genetics includes healthcare providers, patients, families, federal agencies, public health professionals, and non-profits. During the second annual Public Health Genetics Week, we will be celebrating the efforts of those individuals who participate in the public health genetics system and seek to raise awareness about the field.

Genomic profile of advanced breast cancer in circulating tumour DNA
B Kingston et al, Nature Communications, April 23, 2021 (Posted: Apr-27-2021 8AM)

This study utilizes circulating tumor DNA analysis in a large clinical trial to demonstrate the subclonal diversification of pre-treated advanced breast cancer, identifying distinct mutational processes in advanced ER-positive breast cancer, and novel therapeutic opportunities.

Predicting the end of Covid-19 infection for various countries using a stochastic agent-based model taking into account vaccination rates and the new mutant
M Karl et al, MEDRXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

A potently neutralizing anti-SARS-CoV-2 antibody inhibits variants of concern by binding a highly conserved epitope
L VaBlargan et al, BIORXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

Analysis of viral RNA-host protein interactomes enables rapid antiviral drug discovery
S Zhang et al, BIORXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

Insertions in SARS-CoV-2 genome caused by template switch and duplications give rise to new variants of potential concern
SK Garushyants et al, BIORXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

A Novel Evidence-Based Predictor Tool for Hospitalization and Length of Stay: Insights from COVID19 Patients in New York City
M EL Halabi et al, MEDRXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

Conserved in 186 countries the RBD fraction of SARS CoV-2 S-protein with in-silicoT500S mutation strongly blocks ACE2 rejecting the viral spike; A Molecular-docking analysis.
A Banerjee et al, BIORXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

Contrasting epidemiology and population genetics of COVID-19 infections defined with 74 polymorphic loci in SARS-CoV-2 genomes sampled globally.
F Chan et al, MEDRXIV, April 26, 2021 (Posted: Apr-27-2021 8AM)

Developing RT-LAMP Assays for Detection of SARS-CoV-2 in Saliva
X Huang et al, MEDRXIV, April 26,2021 (Posted: Apr-27-2021 8AM)

Genomic Epidemiology of SARS-CoV-2 Infection During the Initial Pandemic Wave and Association With Disease Severity
FP Esper et al, JAMA Network Open, April 26, 2021 (Posted: Apr-26-2021 11AM)

Within weeks of SARS-CoV-2 circulation, a profound shift toward 23403A>G (D614G) specific genotypes occurred. Replaced clades were associated with worse clinical outcomes, including mortality. These findings help explain persistent hospitalization yet decreasing mortality as the pandemic progresses. SARS-CoV-2 clade assignment is an important factor that may aid in estimating patient outcomes.

2021: the beginning of a new era of immunizations?
The Lancet editorial, April 24, 2021 (Posted: Apr-26-2021 10AM)

Accelerating vaccine development, testing in trials, and licensing with robust post-licensing surveillance should become the new norm. Techniques used for COVID-19 vaccines, such as the use of mRNA, might be applicable to other diseases. Early-phase research for mRNA and vector-based vaccines for HIV has started.

Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.
Kasela Silva et al. Genome medicine 2021 4 (1) 66 (Posted: Apr-26-2021 8AM)

Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.
Lewis Katie L et al. American journal of human genetics 2021 4 (Posted: Apr-26-2021 8AM)

Many focus group members preferred engagement modalities that are offered to all participants and allow them to share the nuances of their perspectives over the use of participant representatives and surveys. All groups created a consensus ranking for result return priorities. Results for life-threatening conditions were the highest priority to return, followed by those related to treatable conditions that affect physical or mental health.

Effect of Poloxamer 188 vs Placebo on Painful Vaso-Occlusive Episodes in Children and Adults With Sickle Cell Disease: A Randomized Clinical Trial.
Casella James F et al. JAMA 2021 4 (15) 1513-1523 (Posted: Apr-26-2021 8AM)

In this randomized clinical trial that included 388 children and adults with sickle cell disease, treatment with poloxamer 188 vs placebo resulted in mean time to last dose of parenteral opioids during vaso-occlusive episodes of 81.8 vs 77.8 hours, a difference that was not statistically significant.


Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific 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 Clips, 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.