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PHGKB Horizon Scan > Genomics Precision Health Scan

Precision Health Database| Genomics Precision Health Scan|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Update Date: May 23, 2024
news News and Publications

Birth Defects and Child Health

Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Claus H Gravholt et al. Eur J Endocrinol 2024

Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.
Asem Berkalieva et al. Qual Life Res 2024

Cancer Genomics

Genomic sequencing research in pediatric cancer care: Decision-making, attitudes, and perceived utility among adolescents and young adults and their parents.
Amanda M Gutierrez et al. Genet Med 2024 101168

Real-World Impact of Comprehensive Genomic Profiling on Biomarker Detection, Receipt of Therapy, and Clinical Outcomes in Advanced Non-Small Cell Lung Cancer.
Jeanna Wallenta Law et al. JCO Precis Oncol 2024 8e2400075

Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer.
Umberto Malapelle et al. Br J Cancer 2024

Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients With Advanced Prostate Cancer From Latin America: Challenges and Future Approaches.
Ray Manneh et al. JCO Precis Oncol 2024 8e2300628

Inappropriate Ordering of Multitarget Stool DNA Tests for Colon Cancer Screening.
Aaron B Ahn et al. J Am Board Fam Med 2024 37(2) 328-331

Chronic Disease

Apolipoprotein ɛ4 is associated with increased risk of fall- and fracture-related hospitalisation: the Perth Longitudinal Study of Ageing Women.
Jedd Pratt et al. J Gerontol A Biol Sci Med Sci 2024

Ethical, Legal and Social Issues (ELSI)

Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges.
Padraig Dixon et al. Health Econ Policy Law 2024 1-13

General Practice

Design and Pilot Results from Million Veteran Program Return Of Actionable Genetic Results (MVP-ROAR) Study.
Jason L Vassy et al. Am Heart J 2024

Familial communication and cascade testing following elective genomic testing.
Sophia M Adelson et al. J Genet Couns 2024

Heart, Lung, Blood and Sleep Diseases

Barriers and facilitators to community acceptability of integrating point-of-care testing to screen for sickle cell disease in children in primary healthcare settings in rural Upper East Region of Northern Ghana.
Samuel T Chatio et al. PLoS One 2024 19(5) e0303520

Increased risk of venous thromboembolism in young and middle-aged individuals with hereditary angioedema: a family study.
Linda Sundler Björkman et al. Blood 2024

Cardiovascular outcomes in patients with homozygous familial hypercholesterolaemia on lipoprotein apheresis initiated during childhood: long-term follow-up of an international cohort from two registries.
M Doortje Reijman et al. Lancet Child Adolesc Health 2024

The highest-cost Medicaid enrollees with sickle cell disease had annual health care expenditures nearing $200 000.
Junelle Speller et al. Health Aff Sch 2024 2(4) qxae029

Hereditary Cancer

Risk Factors and Mortality Among Women With Interval Breast Cancer vs Screen-Detected Breast Cancer.
Huiyeon Song et al. JAMA Netw Open 2024 7(5) e2411927

Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline.
Nadine Tung et al. J Clin Oncol 2024 JCO2400662

Feasibility and cost-effectiveness of genetic counselling for all patients with newly diagnosed ovarian cancer: a single-centre retrospective study.
Saskia Schlootz et al. Swiss Med Wkly 2024 1543386

Cascade genetic testing: an underutilized pathway to equitable cancer care?
Roni Nitecki Wilke et al. Fam Cancer 2024

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Sophia Hammer-Hansen et al. Eur J Hum Genet 2024

Newborn Screening

Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.
Wei Wang et al. Clin Lab 2024 70(5)


Cost-effectiveness analysis of CYP3A5 genotype-guided tacrolimus dosing in solid organ transplantation using real-world data.
Kimberly M Deininger et al. Pharmacogenomics J 2024 24(3) 14

A systematic review of pharmacogenetic testing to guide antipsychotic treatment.
Noushin Saadullah Khani et al. Nat Ment Health 2024 2(5) 616-626

Reproductive Health

Prevalence threshold and positive predictive value of noninvasive prenatal testing.
Aditi Sivakumar et al. Int J Gynaecol Obstet 2024

Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals.
Molly Johnston et al. BMC Pregnancy Childbirth 2024 24(1) 355

About Scan

This scan features emerging roles of genomics interventions across the life span. The scan focuses on various conditions including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The 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.