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

Birth Defects and Child Health

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59

Clinical exome sequencing findings in 1589 patients.
Ozlem Gorukmez et al. American journal of medical genetics. Part A 2023

Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Ana Monteiro et al. Hormones (Athens, Greece) 2023

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.
Tazeen Zahid et al. Pakistan journal of medical sciences 2023 39(2) 409-416

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Olivia J Henry et al. Molecular genetics & genomic medicine 2023 e2167

Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.
Peter K Moon et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023

Cancer Genomics

Real-World Evaluation of Disease Progression After CDK 4/6 Inhibitor Therapy in Patients With Hormone Receptor-Positive Metastatic Breast Cancer.
Malinda T West et al. The oncologist 2023

Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses.
Alessa Fischer et al. The Journal of clinical endocrinology and metabolism 2023

The Glioma-IRE project - Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach.
Veronica Villani et al. Journal of translational medicine 2023 21(1) 215

TERT Immunohistochemistry as a Surrogate Marker for TERT Promoter Mutations in Infiltrating Gliomas.
Antonio Dono et al. Applied immunohistochemistry & molecular morphology : AIMM 2023

Helping oncologists utilize genomics in cancer care: An updated definition of the uses of genetic biomarkers in cancer diagnosis and care can make a difference in how physicians understand their use in the clinic.: An updated definition of the uses of genetic biomarkers in cancer diagnosis and care can make a difference in how physicians understand their use in the clinic.
Mary Beth Nierengarten et al. Cancer 2023 129(8) 1140-1141

Prognostic Mutational Signatures of NSCLC Patients treated with chemotherapy, immunotherapy and chemoimmunotherapy.
Margaret R Smith et al. NPJ precision oncology 2023 7(1) 34

Proteomic profiling of colorectal adenomas identifies a predictive risk signature for development of metachronous advanced colorectal neoplasia.
Jacob Mathias Bech et al. Gastroenterology 2023

HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted Therapy.
Amy S Joehlin-Price et al. The American journal of surgical pathology 2023

Are High Levels of Microsatellite Instability and Microsatellite Stability Identical in DNA Mismatch Repair-Deficient Colorectal Cancer Patients?
Yan-Yu Qiu et al. Canadian journal of gastroenterology & hepatology 2023 20238370262

Chronic Disease

KCNQ2 - Related Epilepsy: geno - phenotype relationship with tailorized anti seizures medication (ASM): Systematic review.
Raffaele Falsaperla et al. Neuropediatrics 2023

Adverse effect of PNPLA3 p.I148M genetic variant on kidney function in middle-aged individuals with metabolic dysfunction.
Alessandro Mantovani et al. Alimentary pharmacology & therapeutics 2023

Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.
Min Qiao et al. Annals of clinical and translational neurology 2023

The Effects of Subjective Cognitive Decline on APOE Genotype Disclosure in the Butler Hospital Alzheimer's Prevention Registry.
A K W Lee et al. The journal of prevention of Alzheimer's disease 2023 10(2) 152-161

Ethical, Legal and Social Issues (ELSI)

Webinar report: stakeholder perspectives on informed consent for the use of genomic data by commercial entities.
Baergen Schultz et al. Journal of medical ethics 2023

General Practice

Future prospects for human genetics and genomics in drug discovery.
Maya Ghoussaini et al. Current opinion in structural biology 2023 80102568

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
Moriel Singer-Berk et al. medRxiv : the preprint server for health sciences 2023

Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Salma Shickh et al. Human genetics 2023

Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.
Mary-Anne Young et al. Twin research and human genetics : the official journal of the International Society for Twin Studies 2023 1-9

A practical checklist for return of results from genomic research in the European context.
Danya F Vears et al. European journal of human genetics : EJHG 2023

Heart, Lung, Blood and Sleep Diseases

Genetic analyses of chr11p15.5 region identify MUC5AC-MUC5B associated with asthma-related phenotypes.
Xingnan Li et al. The Journal of asthma : official journal of the Association for the Care of Asthma 2023 1-16

Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study.
Jiangming Sun et al. Stroke 2023

Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial.
Daniel D Kinnamon et al. Circulation 2023

Hereditary Cancer

Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome.
Clara Cerrato et al. World journal of urology 2023

Information needs on nutrition in link to cancer prevention among cancer patients, high-risk individuals and general population - A national cross-sectional study.
L Veron et al. Clinical nutrition ESPEN 2023 54421-429

Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.
Christine M Gunn et al. Cancer control : journal of the Moffitt Cancer Center 2023 3010732748221143884

Universal screening for Lynch syndrome in operated colorectal cancer by immunohistochemistry: a cohort of patients in Liaoning province, China.
Guangyue Zhao et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2023

Germline Genetic Variants and Pediatric Rhabdomyosarcoma Outcomes: A Report from the Children's Oncology Group.
Bailey A Martin-Giacalone et al. Journal of the National Cancer Institute 2023

Early-onset grade 2-3 diffuse gliomas and schwannomas increase the risk of central nervous system tumors among the patients' relatives.
Eljas Alanen et al. Neuro-oncology advances 2023 5(1) vdad008

Diagnosis, Management, and Surveillance for Patients With PALB2, CHEK2, and ATM Gene Mutations.
Maria G Fencer et al. Clinical breast cancer 2023

Individuals with a Family History of Colorectal Cancer Warrant Tailored Interventions to Address Patient-Reported Barriers to Screening.
Shailavi Jain et al. Clinical and translational gastroenterology 2023

Newborn Screening

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
Stephanie White et al. European journal of human genetics : EJHG 2023

Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.
Katie Tobik et al. Maternal and child health journal 2023

Implementing a comprehensive newborn monitoring chart: Barriers, enablers, and opportunities.
Naomi Muinga et al. PLOS global public health 2023 2(7) e0000624


Pharmacogenomics implementation: "a little less conversation, a little more action, please".
Kelly E Caudle et al. Pharmacogenomics 2023

Pharmacy students' attitudes and intentions of pursuing postgraduate studies and training in pharmacogenomics and personalised medicine.
Dimitra Makrygianni et al. Human genomics 2023 17(1) 27

The Contribution of Pharmacogenetic Drug Interactions to 90-Day Hospital Readmissions in a Real-World Health System.
Sean David et al. Annals of family medicine 2023 (21 Suppl 1)

Pharmacogenetic association of the NR1H3 promoter variant with antihypertensive response among patients with hypertension: A longitudinal study.
Yu Chen et al. Frontiers in pharmacology 2023 141083134

Genome-wide association study identifies genetic variants which predict the response of bone mineral density to teriparatide therapy.
Nerea Alonso et al. Annals of the rheumatic diseases 2023

Reproductive Health

Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores.
Maria Siermann et al. European journal of human genetics : EJHG 2023

Retrospective diagnosis by parental testing in next generation sequencing era and utility of reanalysis of exome data.
Deepti Saxena et al. Prenatal diagnosis 2023

Sperm donor attitudes and experiences with direct-to-consumer genetic testing.
Sascha Wodoslawsky et al. F&S reports 2023 4(1) 36-42

Obstetrical, perinatal and genetic outcomes associated with non-reportable prenatal cell free DNA screening results.
Mary E Norton et al. American journal of obstetrics and gynecology 2023

Optimising the screening for haemoglobinopathies in pregnancy planning.
Robert S Nickel et al. Human fertility (Cambridge, England) 2023 1-6

Pregnant Latinas' perspectives on pursuing expanded carrier screening: "It is better to know than not".
Melodie Tedross et al. Journal of genetic counseling 2023

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.