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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: Aug 18, 2022
news News and Publications

Birth Defects and Child Health

Whole genomic approach in mutation discovery of infantile spasms patients.
Lee Seungbok et al. Frontiers in neurology 2022 13944905

The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.
Zhang Wen et al. Frontiers in pediatrics 2022 10911805

How do genetic tests answer questions about neurodevelopmental differences? A sociological take.
Navon Daniel et al. Developmental medicine and child neurology 2022

CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Huang Yu Tong et al. Frontiers in neurology 2022 13928493

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu Ionut-Florin et al. International journal of molecular sciences 2022 23(15)

Cancer Genomics

Peripheral blood leukocyte mitochondrial DNA content and risk of lung cancer.
Kennedy Gregory T et al. Translational lung cancer research 2022 11(7) 1268-1278

Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Degasperi Andrea et al. Science (New York, N.Y.) 2022 376(6591)

Correlation of the Ki67 Working Group prognostic risk categories with the Oncotype DX Recurrence Score in early breast cancer.
Patel Rima et al. Cancer 2022

A Retrospective Evaluation of the Diagnostic Performance of an Interdependent Pairwise microRNA Expression Analysis with a Mutation Panel in Indeterminate Thyroid Nodules.
Finkelstein Sydney et al. Thyroid : official journal of the American Thyroid Association 2022

Cost-effectiveness of molecularly matched off-label therapies for end-stage cancer - the MetAction precision medicine study.
Ree Anne Hansen et al. Acta oncologica (Stockholm, Sweden) 2022 1-8

Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.
Green Michelle F et al. The oncologist 2022

Oncogene Overlap Analysis of Circulating Cell-free Tumor DNA to Explore the Appropriate Criteria for Defining MET Copy Number-Driven Lung Cancer.
Tsui David C C et al. Clinical lung cancer 2022

Phase II Study of Afatinib in Patients With Tumors With Human Epidermal Growth Factor Receptor 2-Activating Mutations: Results From the National Cancer Institute-Molecular Analysis for Therapy Choice ECOG-ACRIN Trial (EAY131) Subprotocol EAY131-B.
Bedard Philippe L et al. JCO precision oncology 2022 6e2200165

The Cost-Effectiveness of Tislelizumab Plus Chemotherapy for Locally Advanced or Metastatic Nonsquamous Non-Small Cell Lung Cancer.
Luo Xia et al. Frontiers in pharmacology 2022 13935581

Prospective Clinical Genomic Profiling of Ewing Sarcoma: ERF and FGFR1 Mutations as Recurrent Secondary Alterations of Potential Biologic and Therapeutic Relevance.
Ogura Koichi et al. JCO precision oncology 2022 6e2200048

Chronic Disease

Genetics of Type 2 Diabetes: Past, Present, and Future.
Laakso Markku et al. Nutrients 2022 14(15)

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger Eric et al. Proceedings of the National Academy of Sciences of the United States of America 2022 119(33) e2114734119

Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.
Amin Mutaz et al. International journal of molecular sciences 2022 23(15)

Ethical, Legal and Social Issues (ELSI)

Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities.
Offit Kenneth et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200995

General Practice

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Jürgens Hannes et al. Frontiers in genetics 2022 13881100

Community input in a genomic health implementation program: Perspectives of a community advisory group.
Vidgen Miranda E et al. Frontiers in genetics 2022 13892475

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Baker Elizabeth K et al. Frontiers in genetics 2022 13887698

Are genetic counselors prepared to counsel active-duty service members? A survey of genetic counselors' self-efficacy, counseling techniques, and knowledge of military policy.
Kamen Michael et al. Journal of genetic counseling 2022

Community-led risk analysis of direct-to-consumer whole-genome sequencing.
Samlali Kenza et al. Biochemistry and cell biology = Biochimie et biologie cellulaire 2022

Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery.
Lynch Fiona et al. European journal of human genetics : EJHG 2022

Heart, Lung, Blood and Sleep Diseases

Evaluation of the Effectiveness of Individually Tailored Lifestyle Intervention in Patients With Familial Hypercholesterolemia.
Beyece Incazli Seçil et al. The Journal of cardiovascular nursing 2022 37(5) 465-474

CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.
Thilakaratne Ruwan et al. Pediatric pulmonology 2022

Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati Alborz et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022

Cascade screening for familial hypercholesterolemia should be organized at a national level.
Leren Trond P et al. Current opinion in lipidology 2022

The Inherited Hypercholesterolemias.
Loh Wann Jia et al. Endocrinology and metabolism clinics of North America 2022 51(3) 511-537

Cost-effectiveness of population-wide genomic screening for familial hypercholesterolemia in the United States.
Spencer Scott J et al. Journal of clinical lipidology 2022

The Frequency of V122I Transthyretin Mutation in a Cohort of African American Individuals With Bilateral Carpal Tunnel Syndrome.
Shije Jeffrey Z et al. Frontiers in neurology 2022 13949401

Assessing the external validity of the SAFEHEART risk prediction model in patients with familial hypercholesterolaemia in an English routine care cohort.
McKay Ailsa J et al. Atherosclerosis 2022

Hereditary Cancer

Hereditary Breast and Ovarian Cancer Genetic Risk: Screening and Treatment Among Transgender and Gender Diverse Patients.
Sakradse Maia et al. The Permanente journal 2022 1-9

Public Interest in Population Genetic Screening for Cancer Risk.
Roberts Megan C et al. Frontiers in genetics 2022 13886640

Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.
Kiendrebeogo Isabelle T et al. Ethiopian journal of health sciences 2022 32(4) 699-708

Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.
Yurgelun Matthew B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200120

Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.
Frey Melissa K et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200303

Motivation and family communication in hereditary prostate cancer genetic testing: Survey of patients from a US tertiary medical center.
Finn Caitlin M et al. Journal of genetic counseling 2022

Training promotores to lead virtual hereditary breast cancer education sessions for Spanish-speaking individuals of Latin American heritage in California.
Reyna Micaela et al. BMC women's health 2022 22(1) 336

Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay.
Phelps Rachel et al. Cancers 2022 14(15)

Routine Immunohistochemical Analysis of Mismatch Repair Proteins in Colorectal Cancer-A Prospective Analysis.
Lemos Garcia Joana et al. Cancers 2022 14(15)

Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.
Rocca Valentina et al. Cancers 2022 14(15)

Routine informed consent for mismatch repair testing in endometrial cancers: Review and ethical analysis.
DeMari Joseph A et al. Gynecologic oncology 2022

Newborn Screening

Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.
Crossnohere Norah L et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022

Reproductive Health

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities.
Guo Nan et al. Molecular biology reports 2022

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved].
Hill Melissa et al. NIHR open research 2022 210

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.