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Precision Health Database| Genomics Precision Health Weekly Scan|PHGKB
Publication Date: Sep 23, 2021
spot light Highlights
Genetic testing in women with early-onset breast cancer: a Traceback pilot study.
Augustinsson Annelie et al. Breast cancer research and treatment 2021
In this pilot study, we wanted to evaluate a Traceback strategy for possible future clinical implementation and investigate why not all women with early-onset breast cancer underwent genetic testing when they were first diagnosed.Out of all women (n?=?409) diagnosed with breast cancer at?=?35 years in Southern Sweden between 2000 and 2017, 63 had not previously been tested. These women were offered an analysis of the genes BRCA1, BRCA2, PALB2, CHEK2, and ATM through a standardized letter. Subsequently, women with normal test results were informed through a letter and carriers of pathogenic variants were contacted through a telephone call and offered in-person genetic counseling.

Evaluating Primary Care Providers' Readiness for Delivering Genetic and Genomic Services to Underserved Populations.
Sharma Yashoda et al. Public health genomics 2021 1-10

We evaluated the readiness of primary care providers at a Federally Qualified Health Center, the Community Health Center, Inc. (CHCI) for delivering genetic and genomic testing to underserved populations. Online survey questions focused on providers' education and training in basic and clinical genetics, familiarity with current genetic tests, and needs for incorporating genetics and genomics into their current practice.Fifty of 77 (65%) primary care providers responded to the survey. Less than half received any training in basic or clinical genetics (40%), were familiar with specific genetic tests (36%), or felt confident with collecting family health history (44%), and 70% believed patients would benefit from genetic testing.Despite knowledge gaps, respondents recognized the value and need to bring these services to their patients.

Case-finding and genetic testing for familial hypercholesterolaemia in primary care.
Qureshi Nadeem et al. Heart (British Cardiac Society) 2021

A novel case-finding tool (Familial Hypercholetserolemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86?219 patients with cholesterol readings (44.5% of total practices' population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care. Genetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolemia who were managed in primary care.

news News and Publications

Birth Defects and Child Health

Tuberous Sclerosis: Current Update.
Wang Mindy X et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2021 210103

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.
Marrus Natasha et al. Journal of neurodevelopmental disorders 2021 13(1) 39

A systematic review and meta-analysis of imaging genetics studies of specific reading disorder.
Thomas Tina et al. Cognitive neuropsychology 2021 1-26

Juvenile-onset Open-angle Glaucoma - A Clinical and Genetic Update.
Selvan Harathy et al. Survey of ophthalmology 2021

Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey.
Halverson Colin Michael Egenberger et al. American journal of medical genetics. Part C, Seminars in medical genetics 2021

Cancer Genomics

Increased Expression of Long Non-coding RNA H19 is Associated With Colon Cancer Recurrence.
O'Brien Stephen J et al. The Journal of surgical research 2021 26959-68

Association of RAD51 with Homologous Recombination Deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): analysis of the GeparSixto randomized clinical trial.
Llop-Guevara A et al. Annals of oncology : official journal of the European Society for Medical Oncology 2021

Comprehensive Analysis of Gene Expression Profiles Identifies a P4HA1-Related Gene Panel as a Prognostic Model in Colorectal Cancer Patients.
Chen Zhangxing et al. Cancer biotherapy & radiopharmaceuticals 2021

Novel strategy for disease risk prediction incorporating predicted gene expression and DNA methylation data: a multi-phased study of prostate cancer.
Wu Chong et al. Cancer communications (London, England) 2021

Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers.
Somasegar Sahana et al. Gynecologic oncology 2021

The impact of tumor detection method on genomic and clinical risk and chemotherapy recommendation in early hormone receptor positive breast cancer.
Bar Yael et al. Breast (Edinburgh, Scotland) 2021 6078-85

Genomic alteration profiles of lung cancer and their relationship to clinical features and prognosis value using individualized genetic testing.
Zhang Fan et al. Journal of thoracic disease 2021 13(8) 5007-5015

Detection of Neoplasms by Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid.
Gu Wei et al. JAMA neurology 2021

Chronic Disease

Genetically determined low income modifies Alzheimer's disease risk.
Wang Rong-Ze et al. Annals of translational medicine 2021 9(15) 1222

Ethical, Legal and Social Issues (ELSI)

Commercial DNA tests and police investigations: a broad bioethical perspective.
de Groot Nina F et al. Journal of medical ethics 2021

General Practice

Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada.
Enns Emily A et al. Molecular genetics & genomic medicine 2021 e1784

Whole Genome Sequencing as a First-Line Clinical Test: Almost Ready for Prime Time.
Dahmer Mary K et al. Critical care medicine 2021 49(10) 1815-1817

Genetic counseling research and COVID-19: A lesson in resiliency.
Borle Kennedy et al. Journal of genetic counseling 2021

Rethinking genetic counseling clinical skills training in the time of COVID-19.
Stallman Chris et al. Journal of genetic counseling 2021

Mapping Users' Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care.
Miroševic Špela et al. Public health genomics 2021 1-10

Heart, Lung, Blood and Sleep Diseases

Efficacy of a family-based cardiovascular risk reduction intervention in individuals with a family history of premature coronary heart disease in India (PROLIFIC): an open-label, single-centre, cluster randomised controlled trial.
Jeemon Panniyammakal et al. The Lancet. Global health 2021 9(10) e1442-e1450

Loss of statin treatment years during pregnancy and breastfeeding periods in women with familial hypercholesterolemia.
Klevmoen Marianne et al. Atherosclerosis 2021 3358-15

Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris Petros et al. Human mutation 2021

Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.
Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2021

Hereditary Hemochromatosis: Rapid Evidence Review.
Kane Shawn F et al. American family physician 2021 104(3) 263-270

Hereditary Cancer

Risk of Pancreatic Cancer Among Individuals With Pathogenic Variants in the ATM Gene.
Hsu Fang-Chi et al. JAMA oncology 2021

Inherited Pancreatic Cancer Syndromes and High-Risk Screening.
Biller Leah H et al. Surgical oncology clinics of North America 2021 30(4) 773-786

Strategies for Lynch syndrome identification in selected and unselected gynecological cancers.
Carnevali Ileana et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2021

Importance of Family History of Colorectal Cancer In Situ Versus Invasive Colorectal Cancer: A Nationwide Cohort Study.
Tian Yu et al. Journal of the National Comprehensive Cancer Network : JNCCN 2021 1-6

Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank.
Gafni Aviv et al. PloS one 2021 16(9) e0251469

Newborn Screening

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale Olivia M et al. Molecular genetics and metabolism 2021


The pharmacogenetics of treatment with olanzapine.
Zubiaur Pablo et al. Pharmacogenomics 2021

Engaging pharmacogenomics in pain management and opioid selection.
Bright David R et al. Pharmacogenomics 2021

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.