Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: Nov 23, 2022
news News and Publications

Birth Defects and Child Health

Genetic and Rare Diseases Information Center (GARD).
Hoskins Amber et al. Medical reference services quarterly 2022 41(4) 389-394

Clinical and economic evaluation of a proteomic biomarker preterm birth risk predictor: Cost-effectiveness modeling of prenatal interventions applied to predicted higher-risk pregnancies within a large and diverse cohort.
Burchard Julja et al. Journal of medical economics 2022 1-51

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Safizadeh Shabestari Seyed Ali et al. Human genetics 2022

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.
Bille Agnes et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2022

All aspects of galactosemia: a single center experience.
Akgun Abdurrahman et al. Journal of pediatric endocrinology & metabolism : JPEM 2022

Cancer Genomics

Molecular testing for endometrial cancer: An SGO clinical practice statement.
Walsh Christine S et al. Gynecologic oncology 2022 16848-55

HER2 amplification by next-generation sequencing to identify HER2-positive invasive breast cancer with negative HER2 immunohistochemistry.
Morsberger Laura et al. Cancer cell international 2022 22(1) 350

A high number of co-occurring genomic alterations detected by NGS is associated with worse clinical outcomes in advanced EGFR-mutant lung adenocarcinoma: Data from LATAM population.
Heredia David et al. Lung cancer (Amsterdam, Netherlands) 2022 174133-140

High Diagnostic Accuracy of Epigenetic Imprinting Biomarkers in Thyroid Nodules.
Xu Huixiong et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200232

Identification of a novel signature with prognostic value in triple-negative breast cancer through clinico-transcriptomic analysis.
Chen Chao et al. Annals of translational medicine 2022 10(20) 1095

Integrated analysis of the genomic and transcriptional profile of gliomas with isocitrate dehydrogenase-1 and tumor protein 53 mutations.
Liu Han-Qing et al. International journal of immunopathology and pharmacology 2022 363946320221139262

Diagnostic accuracy of circulating free DNA testing for the detection of KRAS mutations in non-small cell lung cancer: A systematic review and meta-analysis.
Palmieri Maria et al. Frontiers in genetics 2022 131015161

Multiple mutations in the EGFR gene in lung cancer: a systematic review.
Castañeda-González Juan Pablo et al. Translational lung cancer research 2022 11(10) 2148-2163

Next-generation Sequencing as a Potential Diagnostic Adjunct in Distinguishing Between Desmoplastic Melanocytic Neoplasms.
Roth Andrew et al. The American journal of surgical pathology 2022

The budget impact of introducing mobocertinib for the postplatinum treatment of advanced non-small cell lung cancer harboring epidermal growth factor receptor exon 20 insertion mutations.
Hernandez Luis et al. Journal of managed care & specialty pharmacy 2022 1-15

Effectiveness and durability of benefit of mTOR inhibitors in a real-world cohort of patients with metastatic prostate cancer and PI3K pathway alterations.
Eule Corbin J et al. Prostate cancer and prostatic diseases 2022

Construction and validation of a prognostic model for lung adenocarcinoma based on endoplasmic reticulum stress-related genes.
Li Feng et al. Scientific reports 2022 12(1) 19857

Development and validation of a novel model for predicting the survival of bladder cancer based on ferroptosis-related genes.
Li Lianjun et al. Aging 2022 14

Chronic Disease

Genome-wide Sequencing Identified Rare Genetic Variants for Childhood-onset Monogenic Lupus.
Misztal Melissa et al. The Journal of rheumatology 2022

Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Robinson Jamie R et al. Obesity (Silver Spring, Md.) 2022

Ethical, Legal and Social Issues (ELSI)

Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy.
Longstaff Holly et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2022 194(44) E1500-E1508

"Extremely slow and capricious": A qualitative exploration of genetic researcher priorities in selecting shared data resources.
Trinidad M Grace et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022

General Practice

Barriers, interventions, and recommendations: Improving the genetic testing landscape.
Dusic E J et al. Frontiers in digital health 2022 4961128

Measuring quality and value in genetic counseling: The current landscape and future directions.
Higgs Emily et al. Journal of genetic counseling 2022

Rare and common genetic determinants of metabolic individuality and their effects on human health.
Surendran Praveen et al. Nature medicine 2022 28(11) 2321-2332

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali Apurba et al. American journal of medical genetics. Part A 2022

Heart, Lung, Blood and Sleep Diseases

Equivalent Impact of Elevated Lipoprotein(a) and Familial Hypercholesterolemia in Patients With Atherosclerotic Cardiovascular Disease.
Hedegaard Berit Storgaard et al. Journal of the American College of Cardiology 2022 80(21) 1998-2010

The Evolving Landscape of Drug Therapies for Sickle Cell Disease.
Rai Parul et al. Hematology/oncology clinics of North America 2022 36(6) 1285-1312

Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.
Garrett Melanie E et al. Blood advances 2022

Acceptability to and Engagement With a Virtual Sickle Cell Trait Education Program (SCTaware): Single-Center Prospective Study.
Beeman Chase M et al. JMIR formative research 2022 6(11) e38780

Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial.
Burns Charlotte et al. Journal of genetic counseling 2022

Contribution of malaria and sickle cell disease to anaemia among children aged 6-59 months in Nigeria: a cross-sectional study using data from the 2018 Demographic and Health Survey.
Chao Dennis L et al. BMJ open 2022 12(11) e063369

Lipoprotein(a) levels in children with suspected familial hypercholesterolaemia: a cross-sectional study.
de Boer Lotte M et al. European heart journal 2022

Polygenic risk score and age: an extra help in the cardiovascular prevention of the young?
Temporelli Pier Luigi et al. European heart journal supplements : journal of the European Society of Cardiology 2022 24(Suppl I) I181-I185

Hereditary Cancer

Oncology Informatics for Lynch Syndrome Research and Care: A Literature Review.
Dehghani Soufi Mahsa et al. JCO clinical cancer informatics 2022 6e2200087

Association Between Family History and Risk of Pancreatic Cancer in Patients With BRCA1 and BRCA2 Pathogenic Variants.
Shah Ishani et al. Pancreas 2022 51(7) 733-738

Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California.
Tamayo Lizeth I et al. Frontiers in oncology 2022 12940162

Predicting the predisposition to colorectal cancer based on SNP profiles of immune phenotypes using supervised learning models.
Cakmak Ali et al. Medical & biological engineering & computing 2022

Genitourinary manifestations of Lynch syndrome in the urological practice.
Lonati Chiara et al. Asian journal of urology 2022 9(4) 443-450

Newborn Screening

Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.
Luo Haiyan et al. Frontiers in pediatrics 2022 101020519

Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria.
Okeke Chinwe O et al. Frontiers in genetics 2022 131013858

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Farrar Michelle A et al. Journal of neuromuscular diseases 2022


Combined electronic medical records and gene polymorphism characteristics to establish an anti-tuberculosis drug-induced hepatic injury (ATDH) prediction model and evaluate the prediction value.
Zhang Jingwei et al. Annals of translational medicine 2022 10(20) 1114

Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy.
Xiang Jiale et al. American journal of obstetrics & gynecology MFM 2022 5(1) 100790

Reproductive Health

Couple screening for recessively inherited disorders.
Sisterna Silvina et al. Journal of medical screening 2022 9691413221137039

Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.
Xue Huili et al. Scientific reports 2022 12(1) 19750

Genetic Screening in Patients with Ovarian Dysfunction.
Zeng Yang et al. Clinical genetics 2022

Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening.
Raj Himanshu et al. Cureus 2022 14(10) e29965

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders.
Deans Zandra C et al. Prenatal diagnosis 2022

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.