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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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21244 hot topic(s) found with the query "All"

Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease?
SS Khan et al, JAMA Editorial, February 18, 2020 (Posted: Feb-19-2020 0PM)

Available data do not support the clinical utility of polygenic risk scores (in their current form) in middle-aged adults of European descent. In the meanwhile, the best approach for prevention of CAD continues to be a combination of population-wide risk factor approaches and addition of drug therapies and lifestyle interventions.


Application of Twitter and web news mining in infectious disease surveillance systems and prospects for public health.
Jahanbin Kia et al. GMS hygiene and infection control 2019 14Doc19 (Posted: Feb-19-2020 9AM)


Towards developing a practical artificial intelligence tool for diagnosing and evaluating autism spectrum disorder: A study using multicenter ABIDE II datasets.
Lu Long et al. JMIR medical informatics 2020 Feb (Posted: Feb-19-2020 9AM)


Using Social Media to Track Geographic Variability in Language About Diabetes: Analysis of Diabetes-Related Tweets Across the United States.
Griffis Heather et al. JMIR diabetes 2020 Jan 5(1) e14431 (Posted: Feb-19-2020 9AM)


Predicting death by suicide using administrative health care system data: Can recurrent neural network, one-dimensional convolutional neural network, and gradient boosted trees models improve prediction performance?
Sanderson Michael et al. Journal of affective disorders 2020 Mar 264107-114 (Posted: Feb-19-2020 9AM)


Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing.
Campbell Michelle Renee et al. Expert review of molecular diagnostics 2020 Feb (Posted: Feb-19-2020 9AM)

Monogenic diabetes is a subset of diabetes characterized by the presence of single-gene mutations and includes neonatal diabetes mellitus and maturity-onset diabetes of the young. Due to the genetic etiology of monogenic diabetes, molecular genetic testing can be used for the diagnosis and classification.


Determining the incidence of rare diseases.
Bainbridge Matthew N et al. Human genetics 2020 Feb (Posted: Feb-19-2020 9AM)

We propose a new method to determine incidence of rare, severe, recessive disease in non-consanguineous populations that use known allele frequencies, estimate the combined allele frequency of observed alleles and estimate the number of causative alleles that are thus far unobserved in a disease cohort.


Genetic considerations for adults with congenital heart disease.
Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb (Posted: Feb-19-2020 9AM)

The population of adults with CHD is growing rapidly with advances in medical care. Genetic causes of CHD can be classified into: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. 20-30% of CHD cases have an established etiology. The role of genetics in the field is increasing.


Management of Male Breast Cancer: ASCO Guideline.
Hassett Michael J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Feb JCO1903120 (Posted: Feb-19-2020 9AM)

ASCO convened an Expert Panel to develop recommendations based on a systematic review and a formal consensus process.26 descriptive reports or observational studies met eligibility criteria and formed the evidentiary basis for the recommendations. Many of the management approaches used for men with breast cancer are like those used for women.


Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Recommendation Statement.
et al. American family physician 2020 Feb 101(4) 233-238 (Posted: Feb-19-2020 9AM)


Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
Mills Justin et al. American family physician 2020 Feb 101(4) 239-240 (Posted: Feb-19-2020 9AM)


Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
Angeli Davide et al. International journal of molecular sciences 2020 Feb 21(3) (Posted: Feb-19-2020 9AM)


Coronavirus latest: has the outbreak in China peaked? Updates on the respiratory illness that has infected tens of thousands of people.
Nature, February 18, 2020 (Posted: Feb-18-2020 1PM)


When will the coronavirus outbreak peak? Officials want to know but predictions vary wildly, from now to after hundreds of millions of people are infected
D Cyranoski, Nature, February 18, 2020 (Posted: Feb-18-2020 1PM)

Although peak predictions can be illuminating, some researchers warn that accuracy is difficult to achieve, especially when the data used in models are incomplete.


Indicators of retention in remote digital health studies: a cross-study evaluation of 100,000 participants
A Pratap et al, NPJ Digital Health, February 17, 2020 (Posted: Feb-18-2020 9AM)

We report the findings regarding recruitment and retention from eight remote digital health studies conducted between 2014–2019 that provided individual-level study-app usage data from more than 100,000 participants completing nearly 3.5 million remote health evaluations.


Association of Biomarkers for Human Papillomavirus With Survival Among Adults With Barrett High-grade Dysplasia and Esophageal Adenocarcinoma
S Rajendra et al, JAMA Network Open, February 2020 (Posted: Feb-18-2020 9AM)


An immune-cell signature of bacterial sepsis
M Reyes et al, Nature Medicine, February 17, 2020 (Posted: Feb-18-2020 9AM)


A Clinician's Guide to Artificial Intelligence: How to Critically Appraise Machine Learning Studies
L Faes et al, TVST, February 2020 (Posted: Feb-18-2020 9AM)

This article aims to empower clinicians and researchers to critically appraise studies of clinical applications of machine learning, through: (1) introducing basic machine learning concepts and nomenclature; (2) outlining key applicable principles of evidence-based medicine; and (3) highlighting potential pitfalls in the design and reporting of these studies.


Randomized Clinical Trials of Artificial Intelligence
DC Angus, JAMA, February 17, 2020 (Posted: Feb-18-2020 9AM)

As patient data are increasingly captured digitally, the opportunities to deploy artificial intelligence (AI), especially machine learning, are increasing rapidly. Machine learning is automated learning by computers using tools such as artificial neural networks to search data iteratively for optimal solutions.


Notes from the Field: Carbapenem-resistant Klebsiella pneumoniae with mcr-1 Gene Identified in a Hospitalized Patient — Wyoming, January 2019
H Rhoades et al, MMWR, February 14, 2020 (Posted: Feb-18-2020 9AM)

First identified in the United States in Pennsylvania in 2016 and since then reported in 20 more states, this is the first mcr-1 isolate reported in Wyoming or surrounding states. The patient’s frequent intermittent antibiotic use could have increased the risk for contracting antibiotic-resistant bacteria, but the route of acquisition is unknown


More than 80 clinical trials launch to test coronavirus treatments
Nature, February 15, 2020 (Posted: Feb-17-2020 10AM)

As HIV drugs, stem cells and traditional Chinese medicines vie for a chance to prove their worth, the World Health Organization attempts to bring order to the search.


New Precision Medicine Program to Study Role of Genomics in Disease
J Kent, Health IT Analytics, February 13, 2020 (Posted: Feb-17-2020 10AM)


NHGRI establishes new intramural precision health research program
NIH, February 2020 Brand (Posted: Feb-17-2020 10AM)

The National Human Genome Research Institute has announced plans to establish a new precision health research program within its Division of Intramural Research. The goal of the program is to develop and evaluate next-generation healthcare that uses cutting-edge genomic and informatic tools to improve the diagnosis, treatment and prevention of disease.


The role of public health in precision medicine
Interview with K Gebbo, All of Us, February 2020 (Posted: Feb-17-2020 10AM)

A lot of people have viewed this as a genetic study but from my perspective, it is not; it is a population study and we have both survey data and physical measurements, too. So, there are a number of other characteristics of this research program that I want to make sure people are aware of.


Your DNA is a valuable asset, so why give it to ancestry websites for free?
L Spinney, the Guardian, February 2020 (Posted: Feb-17-2020 10AM)


Bringing Personalized Medicine to Precision Medicine in Gastroesophageal Cancer
J Chao et al, JAMA Network Open, February 14, 2020 (Posted: Feb-17-2020 10AM)


Disease modelers gaze into their computers to see the future of Covid-19, and it isn’t good
S Begeley, StatNews, February 14, 2020 (Posted: Feb-16-2020 10AM)

At least 550,000 cases. Maybe 4.4 million. Or something in between. Like weather forecasters, researchers who use mathematical equations to project how bad a disease outbreak might become are used to uncertainties and incomplete data.


Estimating underdetection of internationally imported COVID-19 cases
PM De Salazaar et al, MEDRXIV, February 2020 (Posted: Feb-16-2020 9AM)

We conclude that estimates of case counts in Wuhan based on assumptions of perfect detection in travelers may be underestimated by several fold, and severity correspondingly overestimated by several fold.


Parkinsons disease determinants, prediction and gene-environment interactions in the UK Biobank
BM Jacobs, BIORXIV, February 15, 2020 (Posted: Feb-16-2020 9AM)

The study used UK Biobank data to reproduce several well-known associations with PD, to demonstrate the validity and predictive power of a polygenic risk score, and to demonstrate a novel gene-environment interaction, whereby the effect of diabetes on PD risk appears to depend on prior genetic risk for PD.


Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice
P Anandi et al, The Pharmacogenomics Journal, February 14, 2020 (Posted: Feb-16-2020 9AM)

Leukopenia is a serious, frequent side effect associated with azathioprine use. Currently, we use thiopurine methyltransferase (TPMT) testing to predict leukopenia in patients taking azathioprine. We hypothesized that a risk score incorporating additional clinical and genetic variables would improve the prediction of azathioprine-associated leukopenia.


Deep-learning-based prediction of late age-related macular degeneration progression
Q Yan et al, Nature Machine Intelligence, February 14, 2020 (Posted: Feb-16-2020 9AM)

We used 31,262 fundus images and 52 AMD-associated genetic variants from 1,351 subjects which provided disease severity phenotypes and fundus images available at baseline and follow-up visits over a period of 12 years. Our results showed that fundus images coupled with genotypes could predict late AMD progression with an averaged area-under-the-curve value of 0.85


Genetic Ancestry Testing-What Is It and Why Is It Important
LB Jorde et al, JAMA, February 14, 2020 (Posted: Feb-15-2020 9AM)

Genetic ancestry testing can provide insights on the geographic origins of an individual’s ancestors, as well as some information that can aid in assessment of risk for some heritable conditions. The accuracy of testing is limited by the migrations and mixing of populations over time. Unexpected findings can have psychosocial consequences.


Metabolites and you- People leave molecular wakes that may give away their secrets
The Economist, February 2020 (Posted: Feb-15-2020 9AM)


COVID-19 Resource Center
The Lancet, February 2020 (Posted: Feb-15-2020 9AM)


MTHFR Gene and Folic Acid
CDC, February 2020 Brand (Posted: Feb-15-2020 9AM)

Did results from a genetic test tell you that you have a methylenetetrahydrofolate reductase (MTHFR ) gene variant? You may have questions about what this means for your health, especially when it comes to your body’s ability to process folate.


ApoE e2 and aging-related outcomes in 379,000 UK Biobank participants
CL Kuo et al, MedRXIV, February 13, 2020 (Posted: Feb-15-2020 9AM)


Alzheimer's disease susceptibility gene apolipoprotein e (APOE) and blood biomarkers in UK Biobank (N=395,769).
A Ferguson et al, MedRXIV, Februray 13, 2020 (Posted: Feb-15-2020 9AM)


One year cross-sectional study in adult and neonatal intensive care units reveals the bacterial and antimicrobial resistance genes profiles in patients and hospital surfaces
AP Christoff et al, MedRXIV, February 13, 2020 (Posted: Feb-15-2020 9AM)


Coronavirus Disease 2019 (COVID-19) Resource Center
JAMA Network, 2020 (Posted: Feb-14-2020 9AM)


SARS-CoV-2 and COVID-19-A new virus and associated respiratory disease
Nature Journals Research Articles, 2020 (Posted: Feb-14-2020 9AM)


Genomic variance of the 2019-nCoV coronavirus.
Ceraolo Carmine et al. Journal of medical virology 2020 Feb (Posted: Feb-14-2020 8AM)


Emerging novel Coronavirus (2019-nCoV) - Current scenario, evolutionary perspective based on genome analysis and recent developments.
Malik Yashpal Singh et al. The veterinary quarterly 2020 Feb 1-12 (Posted: Feb-14-2020 8AM)

The zoonotic transmission (animal-to-human) is suspected as the route of disease origin. The genetic analyses predict bats as the most probable source of 2019-nCoV though further investigations needed to confirm the origin of the novel virus


Preliminary prediction of the basic reproduction number of the Wuhan novel coronavirus 2019-nCoV.
Zhou Tao et al. Journal of evidence-based medicine 2020 Feb (Posted: Feb-14-2020 8AM)


Innovative and rapid antimicrobial susceptibility testing systems
AV Belkum et al, Nature Rev Microbiology, February 2020 (Posted: Feb-14-2020 8AM)

Over the past 30 years, only a few high-throughput AST methods have been developed and widely implemented. By contrast, several studies have established proof of principle for various innovative AST methods, including both molecular-based and genome-based methods, which await clinical trials and regulatory review.


Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation
EJHG, February 13, 2020 (Posted: Feb-14-2020 8AM)


Genetic profile may predict chance of type 2 diabetes among women with gestational diabetes
NIH News Release, February 13, 2020 Brand (Posted: Feb-14-2020 8AM)

Women who go on to develop type 2 diabetes after having gestational, or pregnancy-related, diabetes are more likely to have particular genetic profiles. The findings provide insight into the genetic factors underlying the risk of type 2 diabetes and may inform strategies for reducing this risk among women who had gestational diabetes.


HSD3B1 Genotype and Clinical Outcomes in Metastatic Castration-Sensitive Prostate Cancer
JAMA Oncology, February 13, 2020 (Posted: Feb-14-2020 8AM)

In this study including 475 genotyped white men with metastatic prostate cancer, the adrenal-permissive genotype (ie, inheritance of =1 HSD3B1[1245C] allele) was associated with significantly shorter time to castration-resistant disease and significantly lower overall survival.


An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice-A Review
M Rainone et al, JAMA Oncology, February 13, 2020 (Posted: Feb-14-2020 8AM)

With increasing evidence and slow improvement of outcomes, PDAC has entered the era of precision medicine. Germline mutations have been identified in key genes with an aggregate frequency of 3.8% to 9.7%, several of which are therapeutically actionable with platinum, PARPi, and checkpoint inhibitor therapy.


CT derived radiomic score for predicting the added benefit of adjuvant chemotherapy following surgery in stage I, II resectable non-small cell lung cancer: a retrospective multicohort study for outcome prediction
P Vaidya et al, Lancet Digital Health, February 13, 2020 (Posted: Feb-14-2020 8AM)


Smoking Cessation: A Report of the Surgeon General
CDC, February 2020 Brand (Posted: Feb-13-2020 8AM)

This report makes it clear that one of the most important actions people can take to improve their health is to quit smoking. This is true regardless of their age or how long they’ve been smoking. We know more about the science of quitting than ever before, including the role of genetic and biological factors. The report serves as a call to action to our nation.


Opportunities and Challenges for Polygenic Risk Scores in Prognostication and Prevention of Cardiovascular Disease
CJ O'Donnell, JAMA Cardiology, February 12, 2020 (Posted: Feb-13-2020 8AM)

Many unresolved issues: Which PRS algorithms should be used in risk assessment and ultimately in treatment decisions? What are appropriate PRS thresholds for elevated risk? How does PRS modify monogenic risk? What are the appropriate PRS risk algorithms in multiethnic populations, including African American and Hispanic American groups?


Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease
M Trinder et al, JAMA Cardiology, February 11, 2020 (Posted: Feb-13-2020 8AM)

In this cohort study of 48?741 adults recruited by the UK Biobank, individuals with comparable levels of low-density lipoprotein cholesterol, monogenic hypercholesterolemia were found to have a greater risk of CVD compared to those with polygenic hypercholesterolemia.


Global Call to Action on Familial Hypercholesterolemia
YouTube Video, February 10, 2020 (Posted: Feb-13-2020 8AM)

How do we prioritize FH as a public health concern? The Global Call to Action on FH was authored by a global panel of scientific experts, advocacy leaders, public health officials, and individuals with familial hypercholesterolemia (FH) from 40 countries. The report notes glaring gaps in screening and guideline-based care for FH.


Major Strides in HER2 Blockade for Metastatic Breast Cancer
P Sharma, NEJM, February 12, 2020 (Posted: Feb-13-2020 8AM)

In summary, the HER2CLIMB and DESTINY-Breast01 trials represent major advances in the treatment of HER2-positive metastatic breast cancer and mark the beginning of the next frontier of highly effective HER2-targeted agents.


Trastuzumab Deruxtecan in Previously Treated HER2-Positive Breast Cancer
S Modi et al, NEJM, February 12, 2020 (Posted: Feb-13-2020 8AM)

Trastuzumab deruxtecan showed durable antitumor activity in a pretreated patient population with HER2-positive metastatic breast cancer. In addition to nausea and myelosuppression, interstitial lung disease was observed in a subgroup of patients and requires attention to pulmonary symptoms and careful monitoring.


Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care.
Alonso Rodrigo et al. Vascular health and risk management 2020 1611-25 (Posted: Feb-12-2020 10AM)


Familial hypercholesterolemia: Detect, treat, and ask about family.
Shah Nishant P et al. Cleveland Clinic journal of medicine 2020 Feb 87(2) 109-120 (Posted: Feb-12-2020 10AM)


Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.
Pina Ana et al. European journal of preventive cardiology 2020 Feb 2047487319898951 (Posted: Feb-12-2020 10AM)


Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359 (Posted: Feb-12-2020 10AM)


Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
Brough Joe et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb (Posted: Feb-12-2020 10AM)


The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.
Dinulos Mary Beth Palko et al. Clinics in laboratory medicine 2020 Mar 40(1) 61-67 (Posted: Feb-12-2020 10AM)


Lessons Learned from Direct-to-Consumer Genetic Testing.
Petersen Lauren M et al. Clinics in laboratory medicine 2020 Mar 40(1) 83-92 (Posted: Feb-12-2020 10AM)


Testing for Breast Cancer Susceptibility Genes
JAMA Learning Podcast, February 2020 (Posted: Feb-12-2020 8AM)

Breast cancer is a leading cause of death in women. Some women have a cancer susceptibility gene known as BRCA, and women should be tested for BRCA under some circumstances. This podcast discusses when testing is appropriate and the cost-effectiveness of BRCA screening for women who have had breast cancer.


Super-precise CRISPR tool enhanced by enzyme engineering: Improvements to a method known as base editing could pave the way for safer gene therapies.
H Ledford, Nature, February 11, 2020 (Posted: Feb-12-2020 8AM)


Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke
J Von Berg et al, EJHG, February 11, 2020 (Posted: Feb-12-2020 8AM)


Artificial Intelligence Improves Breast Cancer Screening in Study
J Abbasi, JAMA, February 11, 2020 (Posted: Feb-12-2020 8AM)

Researchers at Google Health and collaborators developed a deep-learning AI model for identifying breast cancer using screening mammograms from 2 large UK and US data sets. The test sets, which were not used to train or tune the system, included scans from 25?856 women at 2 screening centers in England and 3097 women at a US academic medical center.


Tracking the spread of novel coronavirus (2019-nCoV) based on big data
X Zhao et al, MedRXIV, February 2020 (Posted: Feb-12-2020 8AM)

We used the traffic flow data from Baidu Map, and number of air passengers who left Wuhan from 1st January to 26th January, to quantify the potential infectious people. We developed multiple linear models with local population and air passengers as predicted variables to explain the variance of confirmed cases in every city across China.


Recent ultra-rare inherited mutations identify novel autism candidate risk genes
AB Wilfert et al, BIORXIV preprints, February 11, 2020 (Posted: Feb-12-2020 8AM)

Using whole-genome sequencing data from 3,474 families, we investigate another source of large-effect risk variation, ultra-rare mutations. We report and replicate a transmission disequilibrium of private likely-gene disruptive (LGD) mutations in probands but find that 95% of this burden resides outside of known DNM-enriched genes.


Investigational Hemophilia A Gene Therapy Shows Sustained Benefit
J Abbasi, JAMA, February 11, 2020 (Posted: Feb-12-2020 8AM)

An experimental gene therapy for hemophilia A remained effective up to 3 years after a single infusion, researchers recently reported in the New England Journal of Medicine. Valoctocogene roxaparvovec encodes factor VIII, the blood-clotting protein that’s missing or low in people with hemophilia A, the most common form of the disease.


Using human genetics to understand the disease impacts of testosterone in men and women
KS Ruth et al, Nature Medicine, February 10, 2020 (Posted: Feb-11-2020 9AM)


The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research
CA Painter et al, Nature Medicine, February 10, 2020 (Posted: Feb-11-2020 9AM)

This patient-partnered approach has catalyzed an opportunity to discover the etiology and potential therapies for patients with angiosarcoma. Collectively, this proof-of-concept study demonstrates that empowering patients to directly participate in research can overcome barriers in rare diseases and can enable discoveries.


A 2020 Reality Check on the Public Health Impact of Cancer Genomics and Precision Medicine
Khoury MJ et al, CDC BLog, February 10, 2020 Brand (Posted: Feb-11-2020 9AM)

Precision oncology has had some major successes… And yet, the overall effect of precision medicine on care for patients with cancer has been modest. Nonetheless, it is important for public health to explore using novel and more precise approaches to monitor cancer burden, and implement proven cancer control goals especially in hard to reach populations


Population-based RNA profiling in Add Health finds social disparities in inflammatory and antiviral gene regulation to emerge by young adulthood
SW Cole et al, PNAS, February 2020 (Posted: Feb-11-2020 8AM)

We conducted a transcriptome profiling study of inflammatory and antiviral gene activity in a large, nationally representative and ethnically diverse sample of young adults and found that sociodemographic variations in the activity of these molecular pathways emerge by young adulthood—


Algorithm based smartphone apps to assess risk of skin cancer in adults: systematic review of diagnostic accuracy studies
K Freeman, et al, BMJ. February 2020 (Posted: Feb-11-2020 8AM)

Current algorithm based smartphone apps cannot be relied on to detect all cases of melanoma or other skin cancers. Test performance is likely to be poorer than reported here when used in clinically relevant populations and by the intended users of the apps.


Smartphones vs Wearable Devices for Remotely Monitoring Physical Activity After Hospital Discharge
MS Patel et al, JAMA Network Open, February 2020 (Posted: Feb-10-2020 9AM)

Nearly 80% of US adults own a smartphone,1 which accurately tracks physical activity. Wearable devices are growing in adoption and can track other biometrics.The objective of this study was to compare the duration of remotely monitoring physical activity from smartphones vs wearables in the 6 months after hospital discharge.


Pan-genomics in the human genome era
RM Sherman et al, Nature Review Genetics, February 2020 (Posted: Feb-10-2020 9AM)

As scientists continue to survey and catalogue the genomic variation across human populations and begin to assemble a human pan-genome, these efforts will increase our power to connect variation to human diversity, disease and beyond.


Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Genetics in Medicine, February 10, 2020 (Posted: Feb-10-2020 9AM)

Five hundred inherited retinal disease patients were analyzed with targeted next-generation sequencing.Likely disease-causing single-nucleotide variants (SNVs) and small indels were found in 55.6% of subjects. PVs in USH2A (11.6%), RPGR (4%), and EYS (4%) were the most common.


The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
MS Reuter et al, Genetics in Medicine, February 10, 2020 (Posted: Feb-10-2020 9AM)

We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation. In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes.


Mining coronavirus genomes for clues to the outbreak’s origins
J Cohen, Science, January 2020 (Posted: Feb-09-2020 4PM)

Scientists are publicly sharing an ever-growing number of full sequences of the virus from patients count in the Global Initiative on Sharing All Influenza Data database. These viral genomes are being intensely studied to try to understand the origin of 2019-nCoV and how it fits on the family tree of related viruses.


Promises and perils of using genetic tests to predict risk of disease
IA Scott et al, BMJ, February 2020 (Posted: Feb-09-2020 9AM)

Moving from traditional genetic testing for rare monogenic disorders within families to wider polygenic testing for common diseases in heterogeneous populations requires robust evidence of benefits and harms of this paradigm shift.


Largest-Ever Genetic Study of Autism Yields New Insights
NIH Director Blog, February 2020 Brand (Posted: Feb-09-2020 9AM)

A study of >35,000 people from around the world, the international Autism Sequencing Consortium identified variants in 102 genes associated with increased risk of developing ASD, up from 65 identified previously. Of the 102 genes, 60 had not been previously linked to ASD.


Prospective and External Evaluation of a Machine Learning Model to Predict In-Hospital Mortality of Adults at Time of Admission
N Brajer et al, JAMA Network Open, February 7, 2020 (Posted: Feb-09-2020 9AM)

In this prognostic study that included 75?247 hospitalizations, prospective and multisite retrospective evaluations of a machine learning model demonstrated good discrimination in predicting in-hospital mortality for patients at the time of admission. Area under the receiver operating characteristic curve ranged from 0.84 to 0.89.


Scientists are racing to model the next moves of a coronavirus that's still hard to predict
J Cohen, Science, February 7, 2020 (Posted: Feb-09-2020 8AM)

A flurry of models of the 2019-nCoV outbreak have been shared on websites, preprint servers, and in peer-reviewed journals, and many attempt to do far more than just sharpen hunches about where infected air travelers are going to land. So, how seriously should the dozens of other computer simulations of the outbreak, be taken?


Coronavirus 2019-nCoV global cases by Johns Hopkins CSSE
Johns Hopkins University, February 2020 (Posted: Feb-08-2020 10AM)

Precision public health in action: A data visualization tool to track the geographic spread of new coronavirus. Developed by the Center for Systems Science and Engineering (CSSE) at Johns Hopkins University


Did pangolins spread the China coronavirus to people?
D Cyransoki, Nature, February 7, 2020 (Posted: Feb-08-2020 9AM)

Genetic sequences of viruses isolated from the scaly animals are 99% similar to that of the circulating virus — but the work is yet to be formally published.


#2019nCoV Videos
CDC YouTube videos, February 2020 Brand (Posted: Feb-08-2020 9AM)


Changes in cancer detection and false-positive recall in mammography using artificial intelligence: a retrospective, multireader study
HE Kim et al, Lancet Digital Health, February 6, 2020 (Posted: Feb-08-2020 9AM)

An artificial intelligence (AI) algorithm developed with large-scale mammography data showed better diagnostic performance in breast cancer detection compared with radiologists. The significant improvement in radiologists' performance when aided by AI supports application of AI to mammograms as a diagnostic support tool.


I was fortunate to get genetic counseling. Everyone should have that option
D Pomerantz, StatNews, February 7, 2020 (Posted: Feb-08-2020 9AM)

For most people, there’s a large gap between access to at-home genetic tests and access to genetic counseling. Anyone with a few extra dollars can order a test online and get their results fairly quickly. But finding someone to help interpret those results can be expensive when insurance doesn’t cover counseling.


Genetics of Congenital Heart Disease.
Williams Kylia et al. Biomolecules 2019 Dec (12) (Posted: Feb-07-2020 8AM)


The genetic workup for structural congenital heart disease.
Jerves Teodoro et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Dec (Posted: Feb-07-2020 8AM)


Genetic Contribution to Congenital Heart Disease (CHD).
Shabana N A et al. Pediatric cardiology 2020 Jan (1) 12-23 (Posted: Feb-07-2020 8AM)

The elucidation of genetic components remains difficult because it is a genetically heterogeneous disease. Currently, the major identified genetic causes include chromosomal abnormalities, large subchromosomal deletions/duplications, and point mutations. However, much more remains to be unraveled.


The application of big data to cardiovascular disease: paths to precision medicine.
Leopold Jane A et al. The Journal of clinical investigation 2020 Jan (1) 29-38 (Posted: Feb-07-2020 8AM)


Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer
AW Kurian et al, JAMA Oncology, February 6, 2020 (Posted: Feb-07-2020 8AM)

In a population-based study, women with germline pathogenic variants in BRCA and other breast cancer susceptibility genes have been found to have different patterns of breast cancer treatment, which may be less concordant with practice guidelines, particularly for radiotherapy and chemotherapy.


Shipping of CDC 2019 Novel Coronavirus Diagnostic Test Kits Begins
CDC, February 6, 2020 Brand (Posted: Feb-07-2020 8AM)

A CDC-developed laboratory test kit to detect 2019 novel coronavirus (2019-nCoV) began shipping yesterday to select qualified U.S. and international laboratories. Distribution of the tests will help improve the global capacity to detect and respond to the 2019 novel coronavirus.


From computer to clinic: The challenges of implementing artificial intelligence in practice
Stat News Webinar, February 13, 2020 (Posted: Feb-07-2020 8AM)

It’s one thing to train an algorithm to produce headline-grabbing results on paper. It’s quite another to train it to improve care for patients in practice. We will explore the challenges health systems must address to close that crucial gap in the field of artificial intelligence, where the science of validating algorithms is still a work in progress.


CRISPR takes on cancer
J Couzin-Frankel, Science, February 7, 2020 (Posted: Feb-07-2020 8AM)

Launching a new chapter in the fast-moving cancer immunotherapy field, scientists have blended two cutting-edge approaches: CRISPR, which edits DNA, and T cell therapy, in which sentries of the immune system are exploited to destroy tumors.


Communication, collaboration and cooperation can stop the 2019 coronavirus.
et al. Nature medicine 2020 Feb (Posted: Feb-06-2020 2PM)


The Role of Augmented Intelligence (AI) in Detecting and Preventing the Spread of Novel Coronavirus.
Long Justin B et al. Journal of medical systems 2020 Feb (3) 59 (Posted: Feb-06-2020 2PM)


Calling all coronavirus researchers: keep sharing, stay open.
et al. Nature 2020 Feb (7793) 7 (Posted: Feb-06-2020 2PM)


Recommendations for designing genetic test reports to be understood by patients and non-specialists
GD Farmer et al, EJHG, February 5, 2020 (Posted: Feb-06-2020 9AM)


Clinical genomic testing: what matters to key stakeholders?
S Best et al, EJHG, February 5, 2020 (Posted: Feb-06-2020 9AM)

Beyond a narrow focus on cost and outcomes, robust evidence of what is valued in genomic medicine is scarce. We gathered views on value from key stakeholders (clinical genomic staff, operational genomic staff and community representatives) in relation to three testing contexts.


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