CDC-Authored Publications Update|PHGKB

CDC-Authored Publications Update|PHGKB

Publication Date: Aug 26, 2020

CDC-Authored Publications Update

The latest CDC publications in genomics and precision health.

• The distribution and spread of susceptible and resistant Neisseria gonorrhoeae across demographic groups in a major metropolitan center.
  Tatum D Mortimer, Preeti Pathela, Addie Crawley, Jennifer L Rakeman, Ying Lin, Simon R Harris, Susan Blank, Julia A Schillinger, and Yonatan H Grad
  Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Aug
  
  Similar articles in PubMed
• Malaria Risk and Prevention in Asian Migrants to Angola.
  José Franco Martins, Cátia Marques, Benjamin Nieto-Andrade, Julia Kelley, Dhruviben Patel, Doug Nace, Camelia Herman, Joel Barratt, Gabriel Ponce de Léon, Eldin Talundzic, Eric Rogier, Eric S Halsey, and Mateusz M Plucinski
  The American journal of tropical medicine and hygiene 2020 Aug
  Similar articles in PubMed
• Exploratory analysis of machine learning approaches for surveillance of Zika-associated birth defects.
  Richard Lusk, John Zimmerman, Kelley VanMaldeghem, Suzanna Kim, Nicole M Roth, James Lavinder, Anna Fulton, Meghan Raycraft, Sascha R Ellington, and Romeo R Galang
  Birth defects research 2020 Aug
  Similar articles in PubMed
• Hepatitis A Virus Survival on Drug Paraphernalia.
  Magdalena Medrzycki, Saleem Kamili, and Michael A Purdy
  Journal of viral hepatitis 2020 Aug
  
  Similar articles in PubMed

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Genomics & Precision Health Database| the Genomics & Health Impact Weekly Scan|PHGKB

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Scan|PHGKB

Last Update Date: Aug 31, 2020

Non-Genomics Precision Health Update

The latest information and publications on the impact of big data science, machine learning and predictive analytics on public health.

• Predicting risk of late age-related macular degeneration using deep learning
  Y Peng et al, NPJ Digital Medicine, August 27, 2020
• Artificial intelligence manages congenital cataract with individualized prediction and telehealth computing
  E Long et al, NPJ Digital Medicine, August 28, 2020
• Digital advantage in the COVID-19 response: perspective from Canada’s largest integrated digitalized healthcare system
  DC Baumgart et al, NPJ Digital Medicine, August 31, 2020
• IL-6 and IL-10 as predictors of disease severity in COVID 19 patients: Results from Meta-analysis and Regression
  SK Dhar et al, MEDRXIV, August 29, 2020
• Real-time Nowcasting and Forecasting of COVID-19 Dynamics in England: the first wave?
  PJ Birrell et al, NEDRXIV, August 31, 2020
• Predicting critical state after COVID-19 diagnosis: Model development using a large US electronic health record dataset
  MD Rinderknecht et al, MEDRXIV, August 31, 2020
• External Evaluation of 3 Commercial Artificial Intelligence Algorithms for Independent Assessment of Screening Mammograms
  JM Salim et al, JAMA Oncology, August 27, 2020
• SciLens News Platform: A System for Real-Time Evaluation of News Articles
  A Romanou et al, ARXIV, AUgust 27, 2020
• Using mobile phone data for epidemiological simulations of lockdowns: government interventions, behavioral changes, and resulting changes of reinfections
  SM Muller et al, MEDRXIV, August 28, 2020
• Laboratory findings associated with severe illness and mortality among hospitalized individuals with coronavirus disease 2019 in Eastern Massachusetts
  VM Castro et al, MEDRXIV, August 28, 2020
• People with intellectual and developmental disabilities disproportionately affected by COVID-19
  NIH, August 28, 2020
• Challenges for the evaluation of digital health solutions—A call for innovative evidence generation approaches
  C Guo et al, NPJ Digital Medicine, August 27, 2020
• Revisiting Health Care System Data Priorities to Improve Population Health and Address Inequity
  CC Kenyon et al, JAMA Health Forum, August 28 2020
• US racial inequality may be as deadly as COVID-19.
  Wrigley-Field Elizabeth et al. Proceedings of the National Academy of Sciences of the United States of America 2020 Aug
• The coronavirus is most deadly if you are older and male — new data reveal the risks
  S Mallapaty, Nature News, August 28, 2020
• Implementation of an Artificial Intelligence-Based Double Read System in Capturing Pulmonary Nodule Discrepancy in CT Studies.
  Tan Jin Rong et al. Current problems in diagnostic radiology 2020 Jul
• Artificial intelligence for decision support in acute stroke - current roles and potential.
  Bivard Andrew et al. Nature reviews. Neurology 2020 Aug
• The Need for Developing Technology-enabled, Safe and Ethical Workforce for Healthcare Delivery.
  Sarbadhikari S N et al. Safety and health at work 2020 Aug
• Latest Advancements in Artificial Intelligence-Enabled Technologies in Treating Type 1 Diabetes.
  Qian Feng et al. Journal of diabetes science and technology 2020 Aug 1932296820949940
• Continuous Learning AI in Radiology: Implementation Principles and Early Applications.
  Pianykh Oleg S et al. Radiology 2020 Aug 200038

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Disclaimer: Articles listed in Non-Genomics Precision Health Update 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.

Advanced Molecular Detection Clips Database|AMD Clips|PHGKB

Advanced Molecular Detection Clips Database|AMD Clips|PHGKB

Publication Date: Aug 27, 2020

Advanced Molecular Detection Clips Content

• News
• Policy
• Concepts / Comments
• Methods / Tools
• Evolution / Ecology / Populations
• Pathogenicity / Antimicrobial Resistance
• Detection / Diagnosis
• Epidemiology / Outbreaks / Transmission
• Antimicrobials / Vaccines / Interventions
• Host-Microbe Interactions

NEWS

• A Plan to Use Modern Data Tools to Fight Foodborne Illness
  Jaklevic MC. JAMA, Aug 18, 2020.
• First Case of COVID-19 Reinfection Confirmed - Viral sequence disparity indicates Hong Kong case not simply prolonged infection
  Walker M. MedPage Today, Aug 24, 2020.
• For Quick Coronavirus Testing, Israel Turns to a Clever Algorithm
  Halbfinger DM. New York Times, Aug 21, 2020.
• Genetic data show how a single superspreading event sent coronavirus across Massachusetts--and the nation
  Kaplan S, Mooney C. Washington Post, Aug 25, 2020.
• FDA and Lab-Developed Tests: The Saga Continues
  Walker M. MedPage Today, Aug 25, 2020.
• Russia vaccine roll-out plan prompts virus mutation worries
  Kelland K. Reuters, Aug 21, 2020.
• A Woman May Have Been Cured of H.I.V. Without Medical Treatment
  Mandavilli A. New York Times, Aug 26, 2020.
• Florida releasing genetically modified mosquitoes to prevent diseases like Zika
  Lanese N. Live Science, Aug 21, 2020.

POLICY

• Rescission of Guidances and Other Informal Issuances Concerning Premarket Review of Laboratory Developed Tests
  HHS, Aug 19, 2020. 

CONCEPTS / COMMENTS

• Application of Next Generation Sequencing in Laboratory Medicine.
  Zhong Yiming et al. Annals of laboratory medicine 2021 Jan (1) 25-43

METHODS / TOOLS

• Protoblock - A biological standard for formalin fixed samples.
  Flores Bueso Yensi et al. Microbiome 2020 Aug (1) 122
• Bactopia: a Flexible Pipeline for Complete Analysis of Bacterial Genomes.
  Petit Robert A et al. mSystems 2020 Aug (4)
• FLAVi: An Enhanced Annotator for Viral Genomes of Flaviviridae .
  de Bernadi Schneider Adriano et al. Viruses 2020 Aug (8)
• Temporal signal and the phylodynamic threshold of SARS-CoV-2
  Duchene S. Virus Evol, Aug 19, 2020.
• Whole Genome Sequencing of SARS-CoV-2: Adapting Illumina Protocols for Quick and Accurate Outbreak Investigation during a Pandemic.
  Pillay Sureshnee et al. Genes 2020 08 (8) 
• A Comparison of Whole Genome Sequencing of SARS-CoV-2 Using Amplicon-Based Sequencing, Random Hexamers, and Bait Capture.
  Nasir Jalees A et al. Viruses 2020 08 (8) 
• Real-time public health communication of local SARS-CoV-2 genomic epidemiology.
  Kalinich Chaney C et al. PLoS biology 2020 Aug (8) e3000869 
• Employing Molecular Phylodynamic Methods to Identify and Forecast HIV Transmission Clusters in Public Health Settings: A Qualitative Study.
  Rich Shannan N et al. Viruses 2020 Aug (9)  

EVOLUTION / ECOLOGY / POPULATIONS

• Virulence genes and previously unexplored gene clusters in four commensal Neisseria spp. isolated from the human throat expand the neisserial gene repertoire.
  Calder Alan et al. Microbial genomics 2020 Aug
• SARS-CoV-2 exhibits intra-host genomic plasticity and low-frequency polymorphic quasispecies.
  Karamitros Timokratis et al. Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 2020 Aug 104585
• Genetic diversity and evolution of Hantaan virus in China and its neighbors.
  Li Naizhe et al. PLoS neglected tropical diseases 2020 Aug (8) e0008090
• Molecular characterisation of Influenza C viruses from outbreaks in Hong Kong SAR, China.
  Daniels Rodney S et al. Journal of virology 2020 Aug
• Species-Specific Evolution of Ebola Virus during Replication in Human and Bat Cells.
  Whitfield Zachary J et al. Cell reports 2020 Aug (7) 108028
• Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates.
  Damas Joana et al. Proceedings of the National Academy of Sciences of the United States of America 2020 Aug

PATHOGENICITY / ANTIMICROBIAL RESISTANCE

• Emergence of Transferable mcr-9 Gene-Carrying Colistin-Resistant Salmonella enterica Dessau ST14 Isolated from Retail Chicken Meat in Korea.
  Cha Min-Hyeok et al. Foodborne pathogens and disease 2020 Aug
• Comprehensive genome data analysis establishes a triple whammy of carbapenemases, ICEs and multiple clinically relevant bacteria.
  Botelho João et al. Microbial genomics 2020 Aug
• Effects of a major deletion in the SARS-CoV-2 genome on the severity of infection and the inflammatory response: an observational cohort study.
  Young Barnaby E et al. Lancet (London, England) 2020 Aug

DETECTION / DIAGNOSIS

• Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing.
  Peter Silke et al. mSphere 2020 Aug (4) 
• Comparing serotyping with whole-genome sequencing for subtyping of non-typhoidal Salmonella enterica : a large-scale analysis of 37 serotypes with a public health impact in the USA.
  Elnekave Ehud et al. Microbial genomics 2020 Aug
• Comprehensive Surveillance of SARS-CoV-2 Spread Using Wastewater-based Epidemiology Studies
  Manupati H, et al. medRxiv, Aug 21, 2020.
• First study on surveillance of SARS-CoV-2 RNA in wastewater systems and related environments in Wuhan: Post-lockdown
  Zhao L, et al. medRxiv, Aug 21, 2020.
• Building the National SARS-CoV-2 Laboratory Diagnostic Capacity in Taiwan.
  Yang Ji-Rong et al. Health security 2020 Aug 
• SARS-CoV-2 has been circulating in northern Italy since December 2019: Evidence from environmental monitoring.
  La Rosa Giuseppina et al. The Science of the total environment 2020 Aug 141711
• Accelerating genomics-based surveillance for COVID-19 response in Africa.
  Tessema Sofonias K et al. The Lancet. Microbe 2020 Aug 
• Detection and Discovery of Coronaviruses in Wild Bird Populations.
  Snoeck Chantal J et al. Methods in molecular biology (Clifton, N.J.) 2020 41-53
• Monitoring COVID-19 transmission risks by RT-PCR tracing of droplets in hospital and living environments
  Piana A, et al. medRxiv, Aug 25, 2020.
• Outbreak of Trichophyton soudanense causing tinea capitis in an orphanage in Myanmar.
  Norrenberg S et al. Journal de mycologie medicale 2020 Jul 101013 
• Comparison of a Novel Rapid Lateral Flow Assay to Enzyme Immunoassay Results for Early Diagnosis of Coccidioidomycosis.
  Donovan Fariba M et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Aug

EPIDEMIOLOGY / OUTBREAKS / TRANSMISSION

• The distribution and spread of susceptible and resistant Neisseria gonorrhoeae across demographic groups in a major metropolitan center.
  Mortimer Tatum D et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Aug
• Polyclonal Burkholderia cepacia Complex Outbreak in Peritoneal Dialysis Patients Caused by Contaminated Aqueous Chlorhexidine.
  Wong Sally C Y et al. Emerging infectious diseases 2020 Sep (9) 1987-1997 
• Saprochaete clavata Outbreak Infecting Cancer Center through Dishwasher.
  Menu Estelle et al. Emerging infectious diseases 2020 Sep (9) 2031-2038 
• Clinical and Economic Outcomes of Genome Sequencing Availability on Containing a Hospital Outbreak of Resistant Escherichia coli in Australia.
  Lee Xing J et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 Aug (8) 994-1002 
• An outbreak of cutaneous abscesses caused by Panton-Valentine leukocidin-producing methicillin-susceptible Staphylococcus aureus among gold mine workers, South Africa, November 2017 to March 2018.
  Ismail Husna et al. BMC infectious diseases 2020 Aug (1) 621
• COVID-19 re-infection by a phylogenetically distinct SARS-coronavirus-2 strain confirmed by whole genome sequencing.
  To Kelvin Kai-Wang et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Aug
• SARS-CoV-2 Community Transmission disproportionately affects Latinx population during Shelter-in-Place in San Francisco.
  Chamie Gabriel et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Aug
• Phylogenetic analysis of SARS-CoV-2 in the Boston area highlights the role of recurrent importation and superspreading events
  Lemieux J, et al. medRxiv, Aug 25, 2020.
• Geographical reconstruction of the SARS-CoV-2 outbreak in Lombardy (Italy) during the early phase.
  Micheli Valeria et al. Journal of medical virology 2020 Aug
• Molecular Epidemiology Analysis of SARS-CoV-2 Strains Circulating in Romania during the First Months of the Pandemic.
  Surleac Marius et al. Life (Basel, Switzerland) 2020 Aug (8)
• Neutralizing antibodies correlate with protection from SARS-CoV-2 in humans during a fishery vessel outbreak with high attack rate.
  Addetia Amin et al. Journal of clinical microbiology 2020 Aug

ANTIMICROBIALS / VACCINES / INTERVENTIONS

• The Application of Single-Cell RNA Sequencing in Vaccinology.
  Noé Andrés et al. Journal of immunology research 2020 8624963
• RNA-Based COVID-19 Vaccine BNT162b2 Selected for a Pivotal Efficacy Study
  Walsh EE, et al. medRxiv, Aug 20, 2020.

HOST-MICROBE INTERACTIONS

• The current landscape of coronavirus-host protein-protein interactions.
  Perrin-Cocon Laure et al. Journal of translational medicine 2020 08 (1) 319
• Maternal bacteria to correct abnormal gut microbiota in babies born by C-section.
  Butler Éadaoin M et al. Medicine 2020 Jul (30) e21315
• Heritability jointly explained by host genotype and microbiome: will improve traits prediction?
  Awany Denis et al. Briefings in bioinformatics 2020 Aug
• Host genomics of the HIV-1 reservoir size and its decay rate during suppressive antiretroviral treatment.
  Thorball Christian W et al. Journal of acquired immune deficiency syndromes (1999) 2020 Aug
• A Genome-Wide Association Study Identifies SERPINB10, CRLF3, STX7, LAMP3, IFNG-AS1 and KRT80 As Risk Loci Contributing to Cutaneous Leishmaniasis In Brazil.
  Castellucci Léa C et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2020 Aug

Note:  indicates that at least one CDC-affiliated author;  indicates that the article addresses aspects of implementation or evaluation in clinical or public health practice.

Disclaimer: Articles listed in the Advanced Molecular Detection Clips are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the clips 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.

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: Aug 27, 2020

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer Genomics
• Hereditary Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Event

Birth Defects and Child Health

• Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
  Banerjee Indraneel et al. Wellcome open research 2019 4149
• De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.
  Boskovski Marko T et al. Circulation. Genomic and precision medicine 2020 Aug 13(4) e002836
• Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
  Jackson Daniel et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
• Highlights on Genomics Applications for Lysosomal Storage Diseases.
  La Cognata Valentina et al. Cells 2020 Aug 9(8)
• Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
  Ziats Catherine A et al. European journal of medical genetics 2020 Aug 104042
• Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
  Jacobi Heike et al. The Lancet. Neurology 2020 Sep 19(9) 738-747
• A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
  Chinn Ivan K et al. Expert review of clinical immunology 2020 Aug
• Curative gene therapies for rare diseases.
  Maldonado Rocio et al. Journal of community genetics 2020 Aug

Cancer Genomics

• Discordance in 21-gene recurrence scores between paired breast cancer samples is inversely associated with patient age.
  Bernhardt Sarah M et al. Breast cancer research : BCR 2020 Aug 22(1) 90
• Comparison of Next-Generation Sequencing and Ventana Immunohistochemistry in Detecting ALK Rearrangements and Predicting the Efficacy of First-Line Crizotinib in Patients with Advanced Non-Small Cell Lung Cancer.
  Zeng Liang et al. OncoTargets and therapy 2020 137101-7109
• Clinical implications of prospective genomic profiling of metastatic breast cancer patients.
  van Geelen Courtney T et al. Breast cancer research : BCR 2020 Aug 22(1) 91
• [Analysis of gene mutations and clinic features in 108 patients with myeloproliferative neoplasm].
  Tan Y X et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2020 Jul 41(7) 576-582
• Clinicopathologic features of breast cancer reclassified as HER2-amplified by fluorescence in situ hybridization with alternative chromosome 17 probes.
  Blanton Kristen C et al. Annals of diagnostic pathology 2020 Aug 48151576
• Feasibility and clinical impact of routine molecular testing of gastrointestinal cancers at a tertiary centre with a multi-gene, tumor-agnostic, next generation sequencing panel.
  Bregni Giacomo et al. Acta oncologica (Stockholm, Sweden) 2020 Aug 1-9
• The TP53 mutation rate differs in breast cancers that arise in women with high or low mammographic density.
  Cheasley Dane et al. NPJ breast cancer 2020 634

Hereditary Cancer

• Sharing the initial experience of pan-cancer panel analysis in high-risk renal cell carcinoma in the Korean population.
  Suh Jungyo et al. BMC urology 2020 Aug 20(1) 125
• Cost-effectiveness analysis of universal germline testing for patients with pancreatic cancer.
  Krepline Ashley N et al. Surgery 2020 Aug
• Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
  Park Kuenyoul et al. Journal of clinical laboratory analysis 2020 Aug e23524
• Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
  Kim Soyoun Rachel et al. Cancer 2020 Aug
• Lack of familiarity with genetic testing among patients in Ireland with Cancer.
  Mullally William J et al. Irish journal of medical science 2020 Aug
• Impact of a Genetic Evaluation Initiative to Increase Access to Genetic Services for Adolescent and Young Adults at a Tertiary Cancer Hospital.
  Makhnoon Sukh et al. Journal of adolescent and young adult oncology 2020 Aug
• Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank.
  Wei Jun et al. British journal of cancer 2020 Aug
• Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.
  Foglietta Jennifer et al. Genes 2020 Aug 11(8)
• From Probands to Relatives: Communication of Genetic Risk for Hereditary Breast-Ovarian Cancer and Its Influence on Subsequent Testing.
  Seven Memnun et al. Cancer nursing 2020 Aug
• Incidence of haematological malignancies in adults in Szabolcs-Szatmár-Bereg county, Hungary. Analysis of data of a 36-year period
  Jakó János et al. Orvosi hetilap 2020 161(34) 1400-1413
• Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
  Rogoza-Janiszewska Emilia et al. Cancers 2020 Aug 12(8)
• Parent of Origin Effects on Family Communication of Risk in BRCA + Women: A Qualitative Investigation of Human Factors in Cascade Screening.
  Dwyer Andrew A et al. Cancers 2020 Aug 12(8)
• Male Breast Cancer Risk Assessment and Screening Recommendations in High-Risk Men Who Undergo Genetic Counseling and Multigene Panel Testing.
  Gaddam Sushma et al. Clinical breast cancer 2020 Jul
• Implementation of a High-Risk Breast Clinic for Comprehensive Care of Women With Elevated Breast Cancer Risk Identified by Risk Assessment Models in the Community.
  Laws Alison et al. JCO oncology practice 2020 Aug OP2000256
• Differences in Breast and Cervical Cancer Screening Among U.S. Women by Nativity and Family History.
  Donley Tiffany et al. American journal of preventive medicine 2020 Aug
• A Pre-Test-Post-Test Trial of a Breast Cancer Risk Report for Women in Their 40s.
  Schonberg Mara A et al. American journal of preventive medicine 2020 Sep 59(3) 343-354

Chronic Disease

• Systemic sclerosis pathogenesis: contribution of recent advances in genetics.
  Orvain Cindy et al. Current opinion in rheumatology 2020 Aug
• Genetics of Parkinson's disease.
  Cherian Ajith et al. Acta neurologica Belgica 2020 Aug
• Factors associated with irritable bowel syndrome among medical students at Ain Shams University.
  Elhosseiny Doaa et al. The Journal of the Egyptian Public Health Association 2019 Dec 94(1) 23
• Association between telomere length and Parkinson's disease: a Mendelian randomization study.
  Chen Ruoqing et al. Neurobiology of aging 2020 Jul
• Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
  El Roz Ali et al. Medical sciences (Basel, Switzerland) 2020 Aug 8(3)
• Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.
  Calender Alain et al. Journal of clinical medicine 2020 Aug 9(8)
• Genome-wide identification of m 6 A-associated single-nucleotide polymorphisms in Parkinson's disease.
  Qiu Xiaohui et al. Neuroscience letters 2020 Aug 135315

Ethical, Legal and Social Issues (ELSI)

• Willingness to Participate in Health Research Among Community-Dwelling Middle-Aged and Older Adults: Does Race/Ethnicity Matter?
  Milani Sadaf Arefi et al. Journal of racial and ethnic health disparities 2020 Aug
• Challenges of Genetic Data Sharing in African Studies.
  Stein Catherine M et al. Trends in genetics : TIG 2020 Aug
• Disclosing genetic information to family members without consent: Five Australian case studies.
  Tiller Jane et al. European journal of medical genetics 2020 Aug 104035
• Assessing the Ethical Distinctions Between Different Types of Prospective Human Germline Genetic Interventions.
  Chapman Audrey R et al. The American journal of bioethics : AJOB 2020 20(8) 49-50

General Practice

• Precision Medicine in the Era of Huge Cohorts and Dense Phenotypic Data.
  Denny Josh et al. Journal of biomolecular techniques : JBT 2020 Aug 31(Suppl) S39
• Familial Risk for Moyamoya Disease Among First-Degree Relatives, Based on a Population-Based Aggregation Study in Korea.
  Ahn Hyeong Sik et al. Stroke 2020 Aug STROKEAHA120029251
• Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada.
  Cook Courtney B et al. European journal of medical genetics 2020 Aug 104024
• Airmen and health-care providers' attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project.
  Pereira Stacey et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug
• Genetic feedback for psychiatric conditions: Where are we now and where are we going.
  Driver Morgan N et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2020 Aug
• [Management of Secondary Findings].
  Kosugi Shinji et al. Gan to kagaku ryoho. Cancer & chemotherapy 2020 Aug 47(8) 1153-1157
• Association of Recent Stressful Life Events With Mental and Physical Health in the Context of Genomic and Exposomic Liability for Schizophrenia.
  Pries Lotta-Katrin et al. JAMA psychiatry 2020 Aug
• Personalized medicine in Latin America.
  Panduro Arturo et al. Personalized medicine 2020 Aug

Heart, Lung, Blood and Sleep Diseases

• Fetal Hemoglobin in Sickle Cell Anemia.
  Steinberg Martin H et al. Blood 2020 Aug
• Cystic fibrosis in low and middle-income countries (LMIC): A view from four different regions of the world.
  da Silva Filho Luiz Vicente Ribeiro Ferreira et al. Paediatric respiratory reviews 2020 Jul
• Clinical utility of genetic testing in patients with dilated cardiomyopathy.
  Peña-Peña Maria Luisa et al. Medicina clinica 2020 Aug
• SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.
  Huang Wei-Chih et al. PloS one 2020 15(8) e0237731
• Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.
  Bathen Trine et al. American journal of medical genetics. Part A 2020 Aug
• Cascade screening and treatment of children with familial hypercholesterolemia in Turkey.
  Kose Engin et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Aug
• Prevalence Of familial hypercholeSTerolaemia (FH) in Italian Patients with coronary artERy disease: The POSTER study.
  Gulizia Michele Massimo et al. Atherosclerosis 2020 Jul 30832-38
• Management of familial hypercholesterolaemia in childhood.
  Ramaswami Uma et al. Current opinion in pediatrics 2020 Aug
• Clinical Utilization and Cost of Thrombophilia Testing in Patients with Venous Thromboembolism.
  Gaddh Manila et al. TH open : companion journal to thrombosis and haemostasis 2020 Jul 4(3) e153-e162

Newborn Screening

• Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
  Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)
• Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
  Farrell Michael H et al. The Journal of pediatrics 2020 Sep 22444-50.e1
• Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening.
  Allaf Bichr et al. Clinical chemistry and laboratory medicine 2020 Aug
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
• Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
  Adhikari Aashish N et al. International journal of neonatal screening 2020 Jun 6(2)

Pharmacogenomics

• A population approach of rifampicin pharmacogenetics and pharmacokinetics in Mexican patients with tuberculosis.
  Medellin-Garibay Susanna Edith et al. Tuberculosis (Edinburgh, Scotland) 2020 Aug 124101982
• Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.
  Fan Mikayla et al. Pharmacogenetics and genomics 2020 Aug
• Advances in Genomics for Drug Development.
  Spreafico Roberto et al. Genes 2020 Aug 11(8)
• Clinical Utility of CYP2C19 Genotype-Guided Antiplatelet Therapy in Patients at Risk of Adverse Cardiovascular and Cerebrovascular Events: A Review of Emerging Evidence.
  Gower Megan N et al. Pharmacogenomics and personalized medicine 2020 13239-252

Reproductive Health

• Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.
  Flowers Nicola Jane et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug
• Committee Opinion No. 406: Prenatal testing after IVF with preimplantation genetic testing for aneuploidy.
  Zwingerman Rhonda et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Aug

Event

• LIVING WITH LYNCH 2020- Virtual Patient Workshop
  Alive and Kicking and Colon Cancer Foundation Webinar October 9, 2020
• Public Health Webinar Series on Blood Disorders: Update on COVID-19 and Thrombosis Risk
  September 17, 2020 - 2:00-3:00 PM ET
• Michigan Cancer Genetics Alliance (MCGA) Zoom Meeting: "Improving Appropriate Access to Cancer Genetics Services in Michigan"
  Friday, August 28, 2020; 8:30 AM-12:30 PM.

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