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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: May 19, 2022
news News and Publications

Birth Defects and Child Health

Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271

Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
Roberts Karyn J et al. International journal of obesity (2005) 2022

Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.
Dai Pei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022

Familial risk for bipolar I disorder is associated with erythrocyte omega-3 polyunsaturated fatty acid deficits in youth with attention-deficit hyperactivity disorder.
Mc Namara Robert K et al. Psychiatry research 2022 313114587

Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.
Citro Rodolfo et al. Frontiers in cardiovascular medicine 2022 9838200

Cancer Genomics

Establishment of prognostic risk model and drug sensitivity based on prognostic related genes of esophageal cancer.
Dai Jingjing et al. Scientific reports 2022 12(1) 8008

Comprehensive genome profiling by next generation sequencing of circulating tumor DNA in solid tumors: a single academic institution experience.
Caputo Vincenza et al. Therapeutic advances in medical oncology 2022 1417588359221096878

Negative Ultraselection of Patients With RAS/BRAF Wild-Type, Microsatellite-Stable Metastatic Colorectal Cancer Receiving Anti-EGFR-Based Therapy.
Randon Giovanni et al. JCO precision oncology 2022 6e2200037

Effects of Metastatic Sites on Circulating Tumor DNA in Patients With Metastatic Colorectal Cancer.
Bando Hideaki et al. JCO precision oncology 2022 6e2100535

Molecular Profiles of Advanced Urological Cancers in the PERMED-01 Precision Medicine Clinical Trial.
Billon Emilien et al. Cancers 2022 14(9)

A Novel Machine Learning 13-Gene Signature: Improving Risk Analysis and Survival Prediction for Clear Cell Renal Cell Carcinoma Patients.
Terrematte Patrick et al. Cancers 2022 14(9)

Circulating Tumor DNA Is Associated with Response and Survival in Patients with Advanced Leiomyosarcoma.
Madanat-Harjuoja Laura M et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 OF1-OF8

Exhaled Breath Condensate (EBC) analysis of circulating tumour DNA (ctDNA) using a lung cancer specific UltraSEEK oncogene panel.
Ryan Daniel J et al. Lung cancer (Amsterdam, Netherlands) 2022 16867-73

RNA-Seq and Recurrence Risk Testing for Breast Cancer: Implications for Patient Education.
Soneral Paula et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1

Prognostic Potential of a PSAT1-Associated Gene Signature in Identifying High-Risk Patients in Early-Stage EGFR-Mutant Lung Cancer.
Biyik-Sit Rumeysa et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1

Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation.
Huang Richard S P et al. The oncologist 2022

Diagnostic Impact of Next-Generation Sequencing Panels for Lymphoproliferative Neoplasms on Small-Volume Biopsies.
Fei Fei et al. American journal of clinical pathology 2022

RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers.
Wei Wei et al. Aging 2022 14(undefined)

Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.
Liu Jie et al. Hematology (Amsterdam, Netherlands) 2022 27(1) 565-574

Chronic Disease

Predicting clinical scores in Huntington's disease: a lightweight speech test.
Riad Rachid et al. Journal of neurology 2022

A Polygenic Score for Type 2 Diabetes Improves Risk Stratification Beyond Current Clinical Screening Factors in an Ancestrally Diverse Sample.
Ashenhurst James R et al. Frontiers in genetics 2022 13871260

Ethical, Legal and Social Issues (ELSI)

Efficacy, safety and cost of gene therapy medicinal products in the U.S. and Europe.
Balkhi Bander et al. Drugs of today (Barcelona, Spain : 1998) 2022 58(5) 223-240

Challenging the Utility of Polygenic Scores for Social Science: Environmental Confounding, Downward Causation, and Unknown Biology.
Burt Callie H et al. The Behavioral and brain sciences 2022 1-36

General Practice

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.
Wildin Robert S et al. Frontiers in genetics 2022 13867334

Carrier frequency of autosomal recessive genetic conditions in diverse populations: lessons learned from the Genome Aggregation Database.
Schmitz Matthew J et al. Clinical genetics 2022

Unlocking sociocultural and community factors for the global adoption of genomic medicine.
Chediak Lynsey et al. Orphanet journal of rare diseases 2022 17(1) 191

Heart, Lung, Blood and Sleep Diseases

Applying an LDL-C threshold-based approach to identify individuals with familial hypercholesterolemia.
Jasani Reena et al. Journal of clinical lipidology 2022

Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: associations in a large community cohort.
Pilling Luke C et al. Hepatology (Baltimore, Md.) 2022

Bronchial thermoplasty in severe asthma: a real-world study on efficacy and gene profiling.
Facciolongo Nicola et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 39

Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.
Rosamilia Michael B et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003491

Whole exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz Nathan et al. Human molecular genetics 2022

Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.
Pederiva Cristina et al. Atherosclerosis 2022

The association of genetic susceptibility to smoking with cardiovascular disease mortality and the benefits of adhering to a DASH diet: The Singapore Chinese Health Study.
Geng Tingting et al. The American journal of clinical nutrition 2022

Hereditary Cancer

Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas.
Soewito Stephanie et al. JCO oncology practice 2022 18(5) e805-e813

Perceptions and care Recommendations from Previvors: Qualitative analysis of female BRCA1/2 mutation Carriers' experience with genetic testing and counseling.
Dibble Kate E et al. Gynecologic oncology reports 2022 41100989

Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study.
Barnard Mollie E et al. Journal of medical genetics 2022

Cancer genetic testing in marginalized groups during an era of evolving healthcare reform.
Modell Stephen M et al. Journal of cancer policy 2022 28100275

Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention.
Moorthie Sowmiya et al. Preventive medicine 2022 107075


Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.
Haidar Cyrine E et al. Annual review of genomics and human genetics 2022

Evaluating study designs and treatment outcomes of antidepressant pharmacogenetic clinical trials - Challenges and future perspectives. A critical review.
Minelli Alessandra et al. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2022 5968-81

An Interactive Pharmacogenetics Lesson Using PharmGKB To Individualize Pharmacotherapy Recommendations.
Mosquera Andrea et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1

Reproductive Health

Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio-economic population.
Battese Ellis Katie et al. The Australian & New Zealand journal of obstetrics & gynaecology 2022

Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests.
Kiani Ali Asghar et al. Clinical laboratory 2022 68(5)

GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction.
De Witte L et al. Human reproduction (Oxford, England) 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.