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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: Mar 23, 2023
news News and Publications

Birth Defects and Child Health

The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.
Annemieke Aartsma-Rus et al. Journal of neuromuscular diseases 2023

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Patricia V Hernandez et al. American journal of medical genetics. Part A 2023

Cancer Genomics

Bioinformatics combined with clinical data to analyze clinical characteristics and prognosis in patients with HER2 low expression breast cancer.
Yongcheng Chen et al. Gland surgery 2023 12(2) 197-207

Monitoring of T790M in plasma ctDNA of advanced EGFR-mutant NSCLC patients on first- or second-generation tyrosine kinase inhibitors.
Chun-Ta Huang et al. BMC cancer 2023 23(1) 234

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Barbara Vodicska et al. World journal of pediatrics : WJP 2023

Systematic review of NTRK 1/2/3 fusion prevalence pan-cancer and across solid tumours.
Sophie O'Haire et al. Scientific reports 2023 13(1) 4116

Adjuvant durvalumab after concurrent chemoradiotherapy for patients with unresectable stage III NSCLC harbouring uncommon genomic alterations.
Francesco Cortiula et al. European journal of cancer (Oxford, England : 1990) 2023 184172-178

Clinical implications of tumor-based next-generation sequencing in high-grade epithelial ovarian cancer.
Katherine I Foster et al. Cancer 2023

Concordance between 21-gene recurrence score assay and clinicopathological predictive models in early-breast cancer patients cared for at a cancer center in Colombia.
Mauricio Luján et al. Gaceta medica de Mexico 2023 159(1) 3-9

Impact of the 12-gene recurrence score in influencing adjuvant chemotherapy prescription in mismatch repair proficient stage II/III colonic carcinoma-a systematic review and meta-analysis.
Matthew G Davey et al. International journal of colorectal disease 2023 38(1) 71

Genetic status affects disease-specific mortality but not the incidence of local recurrence in patients with uveal melanoma.
Mette Bagger et al. Ophthalmology 2023

Feasibility of Point-of-Care Genomic Profiling in the Diagnosis and Treatment of Cancer of Unknown Primary.
Xin Wang et al. The oncologist 2023

Clinical management of molecular alterations identified by high throughput sequencing in patients with advanced solid tumors in treatment failure: Real-world data from a French hospital.
Sandra Pinet et al. Frontiers in oncology 2023 131104659

CACSV: a computational web-sever that provides classification for cancer somatic genetic variants from different tissues.
Nahla AlKurabi et al. BMC bioinformatics 2023 24(1) 95

Clinical characteristics and prognostic characterization of endometrial carcinoma: a comparative analysis of molecular typing protocols.
Zihui Yang et al. BMC cancer 2023 23(1) 243

Laboratory blood test profiling reveals distinct biochemical and hemocyte features of KRAS mutated non-small cell lung cancer.
Limin Ou et al. Journal of thoracic disease 2023 15(2) 365-375

Chronic Disease

Mediterranean diet adherence is associated with lower dementia risk, independent of genetic predisposition: findings from the UK Biobank prospective cohort study.
Oliver M Shannon et al. BMC medicine 2023 21(1) 81

Utility of Polygenic Risk Scoring to Predict Cognitive Impairment as Measured by Preclinical Alzheimer Cognitive Composite Score.
Q Gao et al. JAR life 2023 111-8

Genetics of longitudinal kidney function in children and adults with systemic lupus erythematosus.
Thai-Son Tang et al. Rheumatology (Oxford, England) 2023

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Johanna M Seddon et al. Ophthalmology science 2023 3(2) 100265

A Gene-Acculturation Study of Obesity Among U.S. Hispanic/Latinos: The Hispanic Community Health Study/Study of Latinos.
Lindsay Fernández-Rhodes et al. Psychosomatic medicine 2023

Ethical, Legal and Social Issues (ELSI)

Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.
Susan M Wolf et al. Annual review of genomics and human genetics 2023

Do genomic passports leave us more vulnerable or less vulnerable? Perspectives from an online citizen engagement.
Chloé Mayeur et al. Humanities & social sciences communications 2023 10(1) 83

General Practice

Entry-Level Modules (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed)
NHGRI Funding Opportunity

Impact of Genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: a systematic review.
Shubham Misra et al. European journal of neurology 2023

Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study.
Rebecka Pestoff et al. Frontiers in health services 2023 2848512

How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey.
Chloe Mighton et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100819

A Rapid Review on the Value of Biobanks Containing Genetic Information.
Elisabet Rodriguez Llorian et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2023

Genetic/genomic literacy, attitudes and receptivity of nursing students and practising nurses: A cross-sectional online survey.
Ka Ming Chow et al. Nurse education today 2023 125105773

How message appeals and prior product use influence information processing, risk perceptions, trust, attitudes, and genetic test purchase intentions.
Matthew S VanDyke et al. PloS one 2023 18(3) e0283102

Heart, Lung, Blood and Sleep Diseases

Assessing the performance of genetic risk score for stratifying risk of post-sepsis cardiovascular complications.
Brian McElligott et al. Frontiers in cardiovascular medicine 2023 101076745

Evaluating the implementation of a multi-level mHealth study to improve hydroxyurea utilization in sickle cell disease.
J S Hankins et al. Frontiers in health services 2023 21024541

Trends in prescribing practices for management of haemophilia: 1999-2021.
Randall Curtis et al. Haemophilia : the official journal of the World Federation of Hemophilia 2023

Challenges in the Management of Hereditary Angioedema in Urban and Rural Settings: Results of a US Survey.
J Allen Meadows et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Kevin W Southern et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 22(1) 17-30

Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020.
Elizabeth A Cromwell et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities to transform the care of people with hemophilia.
Duc Q Tran et al. Expert review of hematology 2023 16(sup1) 19-37

Hereditary Cancer

Adherence to NCCN Genetic Testing Guidelines in Pancreatic Cancer and Impact on Treatment.
Fionnuala Crowley et al. The oncologist 2023

Prophylactic salpingectomy with delayed oophorectomy as a two-staged alternative for primary prevention of ovarian cancer in BRCA1/2 mutation carriers: women's point of view.
Aya Mohr-Sasson et al. Menopause (New York, N.Y.) 2023

Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study.
Steven J Katz et al. JCO oncology practice 2023 OP2200677

Newborn Screening

Sweat conductivity for diagnosing cystic fibrosis after positive newborn screening: prospective, diagnostic test accuracy study.
Renata Marcos Bedran et al. Archives of disease in childhood 2023


A retrospective analysis of preemptive pharmacogenomic testing in 22,918 individuals from China.
Quanfei Huang et al. Journal of clinical laboratory analysis 2023 e24855

Reproductive Health

Patient perspectives on noninvasive prenatal testing among black women in the United States: a scoping review.
Shameka P Thomas et al. BMC pregnancy and childbirth 2023 23(1) 183

Reproductive Health Counseling among Youth with Sickle Cell Disease.
Charis J Stanek et al. Journal of pediatric and adolescent gynecology 2023

The Influence of the Partner's involvement in Antenatal Genetic Group Counseling on Pregnant individuals' Scores on Tests of Vital Knowledge Relating to Pregnancy.
Teerawat Anansirikasem et al. American journal of perinatology 2023

About Weekly Scan

This weekly update features emerging roles of genomics interventions across the life span. The weekly scan focus on various conditions including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and database.

Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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.