Publication Date: Jun 18, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Pediatric genetics: rare is common.
Gunter Chris et al. Cold Spring Harbor molecular case studies 2020 Jun 6(3) - Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro Mathieu et al. The Journal of allergy and clinical immunology 2020 Jun - Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Alsubaie Lamia et al. Annals of human genetics 2020 Jun - Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease.
Benedetti Valerio et al. Methods in molecular biology (Clifton, N.J.) 2020 215259-75
Cancer
- Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
Giri Veda N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jun JCO2000046 - Implementation and evaluation of a nurse-led decision-coaching program for healthy breast cancer susceptibility gene (BRCA1/2) mutation carriers: a study protocol for the randomized controlled EDCP-BRCA study.
Isselhard A et al. Trials 2020 Jun 21(1) 501 - Propensity score analysis of the prognostic value of genomic assays for breast cancer in diverse populations using the National Cancer Data Base.
Ibraheem Abiola et al. Cancer 2020 Jun - Beneficial Molecular Adaptations In BRCA -Mutation Carriers By Combined HIT/HIRT Intervention: Results From A Pilot Study.
Bizjak Daniel A et al. Cancers 2020 Jun 12(6) - BRCA immunohistochemistry for screening of BRCA mutation in epithelial ovarian cancer patients.
Manchana Tarinee et al. Gynecologic oncology reports 2020 Aug 33100582 - Adherence to National Comprehensive Cancer Network Guidelines for BRCA testing among high risk breast Cancer patients: a retrospective chart review study.
Bobbili Priyanka et al. Hereditary cancer in clinical practice 2020 1813 - Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.
Qureshi Nadeem et al. Familial cancer 2020 Jun - Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Burn John et al. Lancet (London, England) 2020 Jun 395(10240) 1855-1863 - Updates in hereditary breast cancer genetic testing and practical high risk breast management in gene carriers.
Pederson Holly J et al. Seminars in oncology 2020 May - Implications of Hereditary Origin on the Immune Phenotype of Mismatch Repair-Deficient Cancers: Systematic Literature Review.
Bohaumilitzky Lena et al. Journal of clinical medicine 2020 Jun 9(6)
Ethical, Legal and Social Issues (ELSI)
- Professional duties are now considered legal duties of care within genomic medicine.
Anna Middleton et al. European journal of human genetics : EJHG 2020 Jun - The Ethics of Precision Rationing: Human Genetics and the Need for Debate on Stratifying Access to Medication.
Walker Alexis et al. Public health genomics 2020 Jun 1-5
Heart, Lung, Blood and Sleep Diseases
- Can genetic testing help in the management of dyslipidaemias?
Lazarte Julieta et al. Current opinion in lipidology 2020 Jun - Advances in Sickle Cell Disease Treatments.
Pavan Aline Renata et al. Current medicinal chemistry 2020 Jun - Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.
Muller Reka D et al. Circulation. Genomic and precision medicine 2020 Jun - Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases.
Thijssen Carlijn G E et al. Journal of genetic counseling 2020 Jun - Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo Olga et al. American heart journal 2020 Apr 226114-126 - Trends in the Development of Diagnostic Tools for Red Blood Cell-Related Diseases and Anemias.
Kaestner Lars et al. Frontiers in physiology 2020 11387 - Family history of cardiovascular disease and risk of premature coronary heart disease: A matched case-control study.
Chacko Manas et al. Wellcome open research 2020 570 - Inherited thrombocytopenias: history, advances and perspectives.
Nurden Alan T et al. Haematologica 2020 Jun - Homozygous familial hypercholesterolaemia: New hope for getting patients to goal?
Stock Jane K et al. Atherosclerosis 2020 May - Use of a Polygenic Risk Score Improves Prediction of Myocardial Injury after Non-cardiac Surgery.
Douville Nicholas J et al. Circulation. Genomic and precision medicine 2020 Jun - Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu Thierry et al. Genes 2020 Jun 11(6) - Health economic evaluation of screening and treating children with familial hypercholesterolemia early in life: Many happy returns on investment?
Ademi Zanfina et al. Atherosclerosis 2020 May 3041-8
Newborn Screening
- Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.
Fuller Maria et al. The Clinical biochemist. Reviews 2020 May 41(2) 53-66 - The limited use of US residual newborn screening dried bloodspots for health disparity research.
Riches Naomi O et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun
Pharmacogenomics
- Cost avoidance related to a pharmacist-led pharmacogenomics service for the Program of All-inclusive Care for the Elderly.
et al. Pharmacogenomics 2020 Jun - Pharmacogenomic Biomarkers in Allergy and Immunology Practice.
Khan David A et al. The Journal of allergy and clinical immunology 2020 Jun - Pharmacogenetic considerations when prescribing cholinesterase inhibitors for the treatment of Alzheimer's disease.
Cacabelos Ramón et al. Expert opinion on drug metabolism & toxicology 2020 Jun - Rural Community Perceptions and Interests in Pharmacogenomics.
Stegelmeier John et al. Healthcare (Basel, Switzerland) 2020 Jun 8(2) - Understanding pharmacogenomic testing and its role in medicine prescribing.
Youssef Essra et al. Nursing standard (Royal College of Nursing (Great Britain) : 1987) 2020 Jun - Combinatorial PharmacogenomicTesting Improves Outcomes for Older Adults With Depression.
Forester Brent P et al. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2020 May - Global frequencies of clinically important HLA alleles and their implications for the cost-effectiveness of preemptive pharmacogenetic testing.
Zhou Yitian et al. Clinical pharmacology and therapeutics 2020 Jun - Clinical implementation of pharmacogenetics and model-informed precision dosing to improve patient care.
Mizuno Tomoyuki et al. British journal of clinical pharmacology 2020 Jun
Reproductive Health
- Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.
Kosinski Przemyslaw et al. Journal of clinical medicine 2020 Jun 9(6) - Preimplantation genetic testing to reduce preterm births in assisted reproductive technology.
Simpson Joe L et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2020 Jul 150(1) 34-40 - Patient perspectives and experiences with in vitro fertilization and genetic testing options.
Rothwell Erin et al. Therapeutic advances in reproductive health 142633494119899942 - Cell-free DNA testing for prenatal aneuploidy assessment: an analysis of international professional society statements.
Jones R et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Jun - Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum.
Löwy Ilana et al. Social science & medicine (1982) 2020 May 113064 - Genetic testing on products of conception and its relationship with body mass index.
Wang Linlin et al. Journal of assisted reproduction and genetics 2020 Jun
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific 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 Clips, 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.
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