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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: Mar 4, 2021
spot light Highlights
Clinical Utility of Pharmacogenomic Data Collected by a Health-System Biobank to Predict and Prevent Adverse Drug Events.
Shah Sonam N et al. Drug safety 2021
Medication-related harm represents a significant issue for patient safety and quality of care. One strategy to avoid preventable adverse drug events is to utilize patient-specific factors such as pharmacogenomics (PGx) to individualize therapy. We measured the number of patients enrolled in a health-system biobank with actionable PGx results who received relevant medications and assessed the incidence of adverse drug events (ADEs) that might have been prevented had the PGx results been used to inform prescribing.

The Role of Pharmacogenomics in Contemporary Cardiovascular Therapy: A position statement from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy.
Magavern E F et al. European heart journal. Cardiovascular pharmacotherapy 2021

There is a strong and ever-growing body of evidence regarding the use of pharmacogenomics to inform cardiovascular pharmacology. However, there is no common position taken by international cardiovascular societies to unite diverse availability, interpretation and application of such data, nor is there recognition of the challenges of variation in clinical practice between countries.

Genetic contributions to autism spectrum disorder.
Havdahl A et al. Psychological medicine 2021 1-14

This review summarizes recent developments in human genetics research in autism, complemented by epigenetic and transcriptomic findings. The clinical heterogeneity of autism is mirrored by a complex genetic architecture involving several types of common and rare variants, ranging from point mutations to large copy number variants.

The Value of Family History in Colorectal Screening Decisions for Oldest Old Geriatric Populations.
Miller David R et al. Cureus 2021 13(1) e12815

We conducted a retrospective review of a Veterans' Health Administration database to identify male veterans aged 80 years and older who underwent screening colonoscopy. Subsequently, we examined those who tested positive for CRC with a family history of CRC.

news News and Publications

Birth Defects and Child Health

Understanding Exome Sequencing: Tips for the Pediatrician.
Narayanan Dhanya Lakshmi et al. Indian pediatrics 2021

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021

Cancer Genomics

OncoTree: A Cancer Classification System for Precision Oncology.
Kundra Ritika et al. JCO clinical cancer informatics 2021 5221-230

Expression and prognostic impact of FZDs in pancreatic adenocarcinoma.
Li Yang et al. BMC gastroenterology 2021 21(1) 79

Chronic cor pulmonale in pulmonary sarcoidosis.
Battesti J P et al. Thorax 1978 33(1) 76-84

Lorlatinib in pretreated ALK- or ROS1-positive lung cancer and impact of TP53 co-mutations: results from the German early access program.
Frost Nikolaj et al. Therapeutic advances in medical oncology 2021 131758835920980558

Ethical, Legal and Social Issues (ELSI)

My Data, My Choice? - German Patient Organizations' Attitudes towards Big Data-Driven Approaches in Personalized Medicine. An Empirical-Ethical Study.
Rauter Carolin Martina et al. Journal of medical systems 2021 45(4) 43

A CRISPR response to pandemics?: Exploring the ethics of genetically engineering the human immune system.
Germani Federico et al. EMBO reports 2021 e52319

General Practice

Feasibility of Embedding a Scalable, Virtually Enabled Biorepository in the Electronic Health Record for Precision Medicine.
DeMerle Kimberley M et al. JAMA network open 2021 4(2) e2037739

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
Jayasinghe Kushani et al. Kidney international reports 2021 6(2) 272-283

Heart, Lung, Blood and Sleep Diseases

Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents.
Tada Hayato et al. Vascular health and risk management 2021 1759-67

Association between Gene Polymorphisms of T Cell Immunoglobulin Domain and Mucin Domain-3 and Risk of Asthma: A Systematic Review and Meta-analysis.
Wei Wenping et al. Iranian journal of allergy, asthma, and immunology 2021 20(1) 1-10

Massive data screening is a second opportunity to improve the management of patients with familial hypercholesterolemia phenotype.
Zamora Alberto et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021

Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk.
Vaura Felix et al. Hypertension (Dallas, Tex. : 1979) 2021 HYPERTENSIONAHA12016471

Treatment gaps and mortality among patients with familial hypercholesterolemia and cardiovascular disease: a 4-year follow-up study.
Shemesh Elad et al. European journal of preventive cardiology 2021

The management of heterozygous familial hypercholesterolaemia with high lipoprotein (a) and statin intolerance. The guidelines a mirage?
Dal Pino Beatrice et al. European journal of preventive cardiology 2021

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales Ana et al. The Journal of molecular diagnostics : JMD 2021

Hereditary Cancer

Risk-adapted starting age of breast cancer screening in women with a family history of ovarian or other cancers: A nationwide cohort study.
Mukama Trasias et al. Cancer 2021

Lifestyle, behavioral, and dietary risk factors in relation to mammographic breast density in women at high risk for breast cancer.
Ahern Thomas P et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021

The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of patient education videos.
Greenberg D C et al. Gynecologic oncology 2021

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson Melyssa et al. Journal of medical genetics 2021

Clinical benefit for clinical sequencing using cancer panel testing.
Nishimura Sadaaki et al. PloS one 2021 16(2) e0247090

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues Rosario et al. Cancer communications (London, England) 2021

Newborn Screening

Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States.
Vidavalur Ramesh et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021 1-9


Impact of pretreatment dihydropyrimidine dehydrogenase genotype-guided fluoropyrimidine dosing on chemotherapy associated adverse events.
Wigle Theodore J et al. Clinical and translational science 2021

Comparison of Medication Alerts from Two Commercial Applications in the USA.
Shah Sonam N et al. Drug safety 2021

Reproductive Health

Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-year Study.
Afifi Hanan H et al. American journal of perinatology 2021

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples.
Liu Hongfang et al. Cytogenetic and genome research 2021 1-9

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.