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Precision Health Database| Genomics Precision Health Scan|PHGKB
Publication Date: Nov 30, 2023
news News and Publications

Birth Defects and Child Health

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Elena Bacchelli et al. Res Sq 2023

The Lived Experience of Pediatric Gene Therapy - A Scoping Review.
Laura Kimberly et al. Hum Gene Ther 2023

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Roberta Onesimo et al. Int J Lang Commun Disord 2023

Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
Mario Cesare Nurchis et al. Eur J Health Econ 2023

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384

Cancer Genomics

Cost-Effectiveness of Liquid Biopsy for Colorectal Cancer Screening in Patients Who Are Unscreened.
Zainab Aziz et al. JAMA Netw Open 2023 6(11) e2343392

Effect of human epidermal growth factor receptor 2 overexpression in metastatic colorectal cancer on standard chemotherapy outcomes.
Jae Yeon Jang et al. J Gastrointest Oncol 2023 14(5) 2097-2110

Clinical validity and utility of circulating tumor DNA (ctDNA) testing in advanced non-small cell lung cancer (aNSCLC): a systematic literature review and meta-analysis.
Cheng Chen et al. medRxiv 2023

Long or short? Telomere length and pancreatic cancer and its precursor lesions, a narrative review.
Daniele Campa et al. Mutagenesis 2023

Chronic Disease

Using polygenic risk scores to aid diagnosis of patients with early inflammatory arthritis: results from the Norfolk Arthritis Register.
Ryan M Hum et al. Arthritis Rheumatol 2023

Affected brother as the highest risk factor of type 1 diabetes development in children and adolescents: One center data before implementing type 1 diabetes national screening.
Anna Wedrychowicz et al. Adv Clin Exp Med 2023

Ethical, Legal and Social Issues (ELSI)

Consideration and Disclosure of Group Risks in Genomics and Other Data-Centric Research: Does the Common Rule Need Revision?
Carolyn Riley Chapman et al. Am J Bioeth 2023 1-14

General Practice

Attitudes towards genetic testing: The role of genetic literacy, motivated cognition, and socio-demographic characteristics.
Maxim Likhanov et al. PLoS One 2023 18(11) e0293187

A cross-professional competency framework for communicating genomic results.
Amanda Pichini et al. J Genet Couns 2023

DNA Testing for Preventative Health: Do Outcomes Justify Continued Investment?
Jim Banks et al. IEEE Pulse 2023 14(4) 19-23

Using Real-World Data to Inform Value-Based Contracts for Cell and Gene Therapies in Medicaid.
Antal Zemplenyi et al. Pharmacoeconomics 2023

Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties.
Priyanka Ahimaz et al. J Genet Couns 2023

Heart, Lung, Blood and Sleep Diseases

Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia - a cross-sectional analysis.
Maria De Montmollin et al. Swiss Med Wkly 2023 15340127

Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.
Megan A Dickson et al. CJC Pediatr Congenit Heart Dis 2023 2(5) 211-218

Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course.
Sarah M Urbut et al. medRxiv 2023

Editorial: Genetics of sudden unexplained death in children and young adults: state of the art, testing and implications for translational research, public health and forensic pathology.
Simone Grassi et al. Front Med (Lausanne) 2023 101309179

Overview of a collaborative global effort to address the burden of familial hypercholesterolaemia.
Alexander R M Lyons et al. Indian Heart J 2023

The new face of cystic fibrosis in the era of population genetic carrier screening.
Miri Dotan et al. J Cyst Fibros 2023

A systematic review of cost-effectiveness analysis of different screening strategies for familial hypercholesterolemia.
Rui Meng et al. J Clin Lipidol 2023

Pain Frequency and Health Care Utilization Patterns in Women with Sickle Cell Disease Experiencing Menstruation-Associated Pain Crises.
Catherine Segbefia et al. J Womens Health (Larchmt) 2023

Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK.
Sara Boyce et al. Orphanet J Rare Dis 2023 18(1) 366

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Sabrina A Suckiel et al. Am J Hum Genet 2023

Genetic risk, adherence to healthy lifestyle and acute cardiovascular and thromboembolic complications following SARS-COV-2 infection.
Junqing Xie et al. Nat Commun 2023 14(1) 4659

Hereditary Cancer

Awareness and Candidacy for Endocrine Prevention and Risk Reducing Mastectomy in Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment.
Basmah Alhassan et al. Ann Surg Oncol 2023

Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Lucia Trevisan et al. Fam Cancer 2023

Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.
Konstantinos Agiannitopoulos et al. Cancers (Basel) 2023 15(21)

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Gregory Mougel et al. J Med Genet 2023

Nomogram Update to Predict the High Genomic Risk Breast Cancer by Different Races.
Peng Wu et al. Clin Breast Cancer 2023

Rate of Pathogenic Germline Variants in Patients With Lung Cancer.
Steven Sorscher et al. JCO Precis Oncol 2023 7e2300190

ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making.
Charles Shelton et al. Ann Surg Oncol 2023

"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients.
Jennifer L Schneider et al. Hered Cancer Clin Pract 2023 21(1) 24

Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.
Jennifer Thalita Targino Dos Santos et al. Genes (Basel) 2023 14(11)

Newborn Screening

Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region.
Sarah Jane Driscoll et al. Arch Dis Child 2023

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Kee Chan et al. Int J Neonatal Screen 2023 9(4)


Cost-effectiveness of pharmacogenomic-guided treatment for major depression.
Shahzad Ghanbarian et al. CMAJ 2023 195(44) E1499-E1508

Clinical pharmacology and pharmacogenomics for implementation of personalized medicine.
Ashwin Kamath et al. Pharmacogenomics 2023

Should Secondary Pharmacogenomic Variants Be Actively Screened and Reported When Diagnostic Genome-Wide Sequencing Is Performed in a Child?
Jan M Friedman et al. Genet Med 2023 101033

Impact of Pharmacogenomics in Clinical Practice.
Nicola Principi et al. Pharmaceuticals (Basel) 2023 16(11)

Patient-Level Exposure to Actionable Pharmacogenomic Medications in a Nationally Representative Insurance Claims Database.
Monica L Bianchini et al. J Pers Med 2023 13(11)

Healthcare professionals' and consumers' knowledge, attitudes, perspectives, and education needs in oncology pharmacogenomics: A systematic review.
Chiao Xin Lim et al. Clin Transl Sci 2023

An EMR-Based Approach to Determine Frequency, Prescribing Pattern, and Characteristics of Patients Receiving Drugs with Pharmacogenomic Guidelines.
George E MacKinnon et al. Pharmacy (Basel) 2023 11(6)

Are Community Pharmacists Ready to Deliver Pharmacogenomics Testing Services?
Heba Ghazal et al. Pharmacy (Basel) 2023 11(6)

Reproductive Health

A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.
Wei Luo et al. BMC Pregnancy Childbirth 2023 23(1) 791

Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.
Adeline Perrot et al. J Genet Couns 2023

Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
Neeta L Vora et al. Prenat Diagn 2023

About Scan

This scan 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.