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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: Jun 17, 2021
spot light Highlights
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.
Galbraith Lauren N et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
PCPs suggested referrals more often for pathogenic variants or VUS than benign variants (72% vs. 16%, p?<?0.001). PCPs were also more likely to address further workup, like a colonoscopy or esophagogastroduodenoscopy, in response to pathogenic variants or VUS than benign variants (43% vs. 4%, p<?0.001).

Moving Pharmacogenetics into Practice: It's All About the Evidence!
Luzum Jasmine A et al. Clinical pharmacology and therapeutics 2021

The evidence for pharmacogenetics has grown rapidly in recent decades. However, the strength of evidence required for the clinical implementation of pharmacogenetics is highly debated. Therefore, the purpose of this review is to summarize different perspectives on the evidence required for the clinical implementation of pharmacogenetics. First, we present two patient cases that demonstrate how knowledge of pharmacogenetic evidence affected their care.

Recent Insights on Genetic Testing in Primary Prostate Cancer.
Kafka Mona et al. Molecular diagnosis & therapy 2021

Prostate cancer (PCa) is one of the most common cancers in developed countries. The results of large trials indicate that the proportion of PCa attributable to hereditary factors is as high as 15%, highlighting the importance of genetic testing. Despite improved understanding of the prevalence of pathogenic variants among men with PCa, it remains unclear which men will most benefit from genetic testing.

news News and Publications

Birth Defects and Child Health

Genetic evaluation in children with short stature.
Zhou Elaine et al. Current opinion in pediatrics 2021

Genome sequencing in congenital cataracts improves diagnostic yield.
Ma Alan et al. Human mutation 2021

Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy.
Hale Andrew T et al. Neurosurgery 2021

Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing.
Branch Anna et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
McConkie-Rosell Allyn et al. Journal of genetic counseling 2021

GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Pearson Nathaniel M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht Clair et al. Frontiers in immunology 2021 12665621

Cancer Genomics

Developing a clinical-pathologic model to predict genomic risk of recurrence in patients with hormone receptor positive, human epidermal growth factor receptor-2 negative, node negative breast cancer.
Batra Atul et al. Cancer treatment and research communications 2021 28100401

Decoding human cancer with whole genome sequencing: a review of PCAWG Project studies published in February 2020.
Giunta Simona et al. Cancer metastasis reviews 2021

Combination chemotherapy versus temozolomide for patients with methylated MGMT (m-MGMT) glioblastoma: results of computational biological modeling to predict the magnitude of treatment benefit.
Castro Michael et al. Journal of neuro-oncology 2021

Genomic Sequencing and Insight into Clinical Heterogeneity and Prognostic Pathway Genes in Patients with Metastatic Colorectal Cancer.
Kawaguchi Yoshikuni et al. Journal of the American College of Surgeons 2021

Crizotinib Versus Conventional Chemotherapy in First-Line Treatment for ALK-Positive Non-Small Cell Lung Cancer: A Systematic Review and Meta-Analysis.
Cruz Barbara D et al. Oncology and therapy 2021

Integrating Somatic and Germline Next-Generation Sequencing Into Routine Clinical Oncology Practice.
Hicks J Kevin et al. JCO precision oncology 2021 5

Mutational Landscape of PI3K-AKT-mTOR Pathway in Breast Cancer: Implications for Targeted Therapeutics.
Xiao Weikai et al. Journal of Cancer 2021 12(14) 4408-4417

Chronic Disease

Determinants of Adherence to Diabetes Screening in Iranian Adults With a Positive Family History of Diabetes.
Malih Narges et al. Journal of preventive medicine and public health = Yebang Uihakhoe chi 2021 54(3) 190-198

Ethical, Legal and Social Issues (ELSI)

Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomics.
Determeyer Peggy et al. Pharmacogenomics 2021

General Practice

A framework for automated gene selection in genomic applications.
Lazo de la Vega L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021

Interpretation of genomic sequence variants in genetic skin diseases: A primer for clinicians.
Uitto Jouni et al. Journal of the American Academy of Dermatology 2021

Blockchain Applications in Health Care and Public Health: Increased Transparency.
Velmovitsky Pedro Elkind et al. JMIR medical informatics 2021 9(6) e20713

Heart, Lung, Blood and Sleep Diseases

Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project.
Arrobas Velilla Teresa et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021

A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes.
Liu Ge et al. JAMA network open 2021 4(6) e2112820

Non-Ischemic Sudden Cardiac Arrest: Role of 12 Lead Holter, Family Screening and Genetic Testing.
Blich Miry et al. Pacing and clinical electrophysiology : PACE 2021

Hereditary Cancer

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
et al. The Lancet. Oncology 2021

Clinicopathological Features of BRCA1/2 Mutation-Positive Breast Cancer.
Paik Hyun-June et al. Oncology 2021 1-8

Community research collaboration to develop a promotores-based hereditary breast cancer education program for Spanish-speaking Latinas.
Almeida Rebeca et al. Health education research 2021

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward Emma R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021

Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors.
Cacioppo Cara N et al. Cancer medicine 2021

Electronic Family History Screening Tool for Detection of Inherited Cancer Risk: A Prospective Pilot Study.
Le Amy et al. American journal of medical quality : the official journal of the American College of Medical Quality 2021

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.
Kim Jung et al. JCO precision oncology 2021 5

Newborn Screening

The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts.
de Miranda Mirela Costa et al. Frontiers in pediatrics 2021 9659492


Genotyping NUDT15*3 rs1166855232 reveals higher frequency of potential adverse effects of thiopurines in Natives and Mestizos from Mexico.
Texis Tomas et al. Pharmacological reports : PR 2021

PharmVar: A Global Resource and Repository for Pharmacogene Variation.
Gaedigk Andrea et al. Clinical pharmacology and therapeutics 2021

Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and European Society for Pharmacogenomics and Personalized Therapy.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2021

Reproductive Health

Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis.
Liu Sha et al. Frontiers in genetics 2021 12666648

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.