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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: May 31, 2023
news News and Publications

Birth Defects and Child Health

Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy.
Joshua R Mann et al. Neuroepidemiology 2023

Translating Precision Health for Pediatrics: A Scoping Review.
Mathushan Subasri et al. Children (Basel) 2023 10(5)

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.
Hadley Stevens Smith et al. Children (Basel) 2023 10(5)

ConsCal: A tool to aid medical genetics professionals in consanguineous populations.
Imen F Alkuraya et al. Am J Med Genet A 2023

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Anne Slavotinek et al. NPJ Genom Med 2023 8(1) 10

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Amira T Masri et al. Clin Neurol Neurosurg 2023 230107799

Duchenne Muscular Dystrophy Gene Therapy in 2023: Status, Perspective, and Beyond.
Dongsheng Duan et al. Hum Gene Ther 2023 34(9-10) 345-349

Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?".
Beth Lincoln-Boyea et al. J Genet Couns 2023

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
Mario Cesare Nurchis et al. Arch Public Health 2023 81(1) 93

Barriers to Genetic Testing in Vascular Malformations.
Alexandra J Borst et al. JAMA Netw Open 2023 6(5) e2314829

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Yanqiu Liu et al. Hum Genome Var 2023 10(1) 15

Cancer Genomics

Cost-Effectiveness Analysis of MammaPrint to Guide the Use of Endocrine Therapy in Patients with Early-Stage Breast Cancer.
Marianne Luyendijk et al. Pharmacoeconomics 2023

The landscape of BRCA1 and BRCA2 large rearrangements in an international cohort of over 20 000 ovarian tumors identified using next-generation sequencing.
Melanie A Jones et al. Genes Chromosomes Cancer 2023

Circulating microRNAs for Early Diagnosis of Ovarian Cancer: A Systematic Review and Meta-Analysis.
Nanna Lond Skov Frisk et al. Biomolecules 2023 13(5)

Tazemetostat for Tumors Harboring SMARCB1/SMARCA4 or EZH2 Alterations: Results from NCI-COG Pediatric MATCH APEC1621C.
Susan N Chi et al. J Natl Cancer Inst 2023

Chronic Disease

Polygenic scores for estimated glomerular filtration rate in a population of general adults and elderly - comparative results from the KORA and AugUR study.
Janina M Herold et al. BMC Genom Data 2023 24(1) 28

Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.
Dylan C Brock et al. Epilepsy Res 2023 193107167

Ethical, Legal and Social Issues (ELSI)

Partnering with First Nations in Northern British Columbia Canada to Reduce Inequity in Access to Genomic Research.
Nadine R Caron et al. Int J Environ Res Public Health 2023 20(10)

Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges.
Katie Arkell et al. Children (Basel) 2023 10(5)

A Scoping Review: Do instruments measuring genomic competence in nursing incorporate ethics?
Mari Laaksonen et al. Nurs Open 2023

Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience.
Sivia Barnoy et al. Front Genet 2023 141109431

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia.
Aideen M McInerney-Leo et al. Twin Res Hum Genet 2023 1-4

Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits.
Matthieu C de Hemptinne et al. Nat Neurosci 2023

Enabling trade-offs in privacy and utility in genomic data beacons and summary statistics.
Rajagopal Venkatesaramani et al. Genome Res 2023

General Practice

Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores.
John J Connolly et al. Genet Med 2023 100906

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
Jean-Marie Ravel et al. Genome Med 2023 15(1) 39

The future of commercial genetic testing.
Benjamin D Solomon et al. Curr Opin Pediatr 2023

A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Rita Kodida et al. J Med Genet 2023

Heart, Lung, Blood and Sleep Diseases

Distributional Cost-Effectiveness of Equity-Enhancing Gene Therapy in Sickle Cell Disease in the United States.
George Goshua et al. Ann Intern Med 2023

Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation.
Lieke van den Heuvel et al. J Genet Couns 2023

Analysis of genetic test results in 378 patients suspected of thalassaemia.
Jing Jin et al. Biotechnol Genet Eng Rev 2023 1-15

Heterogeneity of Lipoprotein(a) Levels Among Hispanic or Latino Individuals Residing in the US.
Parag H Joshi et al. JAMA Cardiol 2023

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations.
Elena Martín-González et al. Pulmonology 2023

Identification of pathogenic variants in the Brazilian cohort with Familial Hypercholesterolemia using exon-targeted gene sequencing.
Jéssica Bassani Borges et al. Gene 2023 147501

Hereditary Cancer

Designing a Dyad-Based Digital Health Intervention to Reduce Sedentary Time in Black Breast Cancer Survivors and Their First-degree Relatives: Human-Centered Design Study.
Meghan Blazey et al. JMIR Form Res 2023 7e43592

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.
Mattia Garutti et al. Genes (Basel) 2023 14(5)

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Nanna Bæk Møller et al. Sci Rep 2023 13(1) 8536

Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis.
Giovanni Innella et al. J Clin Pathol 2023

On-Site Nurse-Led Cancer Genetics Program Increases Cancer Genetic Testing Completion in Black Veterans.
Jeffrey W Shevach et al. JCO Oncol Pract 2023 OP2200738

Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members.
Abigail Rousseau et al. J Community Health 2023 1-7

Newborn Screening

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
Jonanlis Ramirez Alcantara et al. J Clin Endocrinol Metab 2023


Addressing barriers to increased adoption of DPYD genotyping at a large multisite cancer center.
Sarah A Morris et al. Am J Health Syst Pharm 2023

Reproductive Health

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.
Luigia De Falco et al. Genes (Basel) 2023 14(5)

Acceptability of prenatal diagnosis and prenatal treatment of haemophilia using cell and gene therapies within US haemophilia community.
Quan D M Pham et al. Haemophilia 2023

Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.
Danya F Vears et al. Twin Res Hum Genet 2023 1-7

Experiences, Perceptions, and Meanings of the Ultra-Orthodox in Israel Regarding Premarital Genetic Testing.
Sima Zalcberg-Block et al. J Relig Health 2023 1-18

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.