Publication Date: Jan 24, 2019
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, 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 databases. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Insights into genetics, human biology and disease gleaned from family based genomic studies.
Posey Jennifer E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan - A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
Theadom Alice et al. Neuroepidemiology 2019 Jan 52(3-4) 128-135 - Genetic and environmental influences on structural brain measures in twins with autism spectrum disorder.
Hegarty John P et al. Molecular psychiatry 2019 Jan - The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
N Jalkh et al, BMC Medical Genomics, January 22, 2019 - Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing.
Zhang Kuo et al. Clinica chimica acta; international journal of clinical chemistry 2019 Jan - Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results.
Matias Margret et al. Journal of genetic counseling 2019 Jan - The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Baek Min Seong et al. Yonsei medical journal 2019 Jan 60(1) 98-105 - Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani Priya S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan - MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
Capkova Pavlina et al. PeerJ 2019 6e6183 - Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Waldrop Megan A et al. Neuropediatrics 2019 Jan - The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Patel Aara et al. Ophthalmology 2019 Jan - Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures.
Angione Katie et al. Epilepsy research 2019 Jan 15070-77
Cancer
- Treatment recommendations to cancer patients in the context of FDA guidance for next generation sequencing.
Dy Grace K et al. BMC medical informatics and decision making 2019 Jan 19(1) 14 - TQuest, A Web-Based Platform to Enable Precision Medicine by Linking a Tumor's Genetic Defects to Therapeutic Options.
Gershkovich Peter et al. JCO clinical cancer informatics 2018 Dec (2) 1-13 - What Is the Effectiveness of Patient Decision Aids for Cancer-Related Decisions? A Systematic Review Subanalysis.
McAlpine Kristen et al. JCO clinical cancer informatics 2018 Dec (2) 1-13 - Integration of Cancer Registry Data into the Text Information Extraction System: Leveraging the Structured Data Import Tool.
Linkov Faina et al. Journal of pathology informatics 2018 947 - Association of Germline Genetic Test Type and Results With Patient Cancer Worry After Diagnosis of Breast Cancer.
Katz Steven J et al. JCO precision oncology 2018 2018 - BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.
Lee Andrew et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan - Utility of ultrasound-guided liver tumor biopsy for next generation sequencing-based clinical sequencing.
Eso Yuji et al. Hepatology research : the official journal of the Japan Society of Hepatology 2019 Jan - Concomitant dysregulation of the estrogen receptor and BRAF/MEK signaling pathways is common in colorectal cancer and predicts a worse prognosis.
Liu Dingxie et al. Cellular oncology (Dordrecht) 2019 Jan - Expediting Comprehensive Molecular Analysis to Optimize Initial Treatment of Lung Cancer Patients with Minimal Smoking History.
Dagogo-Jack Ibiayi et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2019 Jan - Combined targeted DNA and RNA sequencing of advanced NSCLC in routine molecular diagnostics: Analysis of the first 3,000 Heidelberg cases.
Volckmar Anna-Lena et al. International journal of cancer 2019 Jan - Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes.
Bucheit Leslie et al. Hereditary cancer in clinical practice 2019 172 - Quality of Clinician-Reported Cancer History When Ordering Genetic Testing.
LaDuca Holly et al. JCO clinical cancer informatics 2018 Dec (2) 1-11 - Evaluation of National Comprehensive Cancer Network guideline-based Tool for Risk Assessment for breast and ovarian Cancer (N-TRAC): A patient-reported survey for genetic high-risk assessment for breast and ovarian cancers in women.
Ozanne Elissa M et al. Journal of genetic counseling 2019 Jan - Use and Impact of the 21-Gene Recurrence Score in Relation to the Clinical Risk of Developing Metastases in Early Breast Cancer Patients in the Netherlands.
Schreuder Kay et al. Public health genomics 2019 Jan 21(1-2) 1-8
Chronic Disease
- American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange: From Inception to First Data Release and Beyond-Lessons Learned and Member Institutions' Perspectives.
Micheel Christine M et al. JCO clinical cancer informatics 2018 Dec (2) 1-14 - An economic model of the cost-utility of pre-emptive genetic testing to support pharmacotherapy in patients with major depression in primary care.
Sluiter Reinier L et al. The pharmacogenomics journal 2019 Jan - Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao Tony et al. Clinical journal of the American Society of Nephrology : CJASN 2019 Jan
Ethical, Legal and Social Issues (ELSI)
- Genetic Nondiscrimination Laws: What Oncology Nurses Need to Know.
Steck Mary Beth et al. Seminars in oncology nursing 2019 Jan - Statement from FDA Commissioner Scott Gottlieb, M.D. and Peter Marks, M.D., Ph.D., Director of the Center for Biologics Evaluation and Research on new policies to advance development of safe and effective cell and gene therapies,
FDA Statement, January 15, 2019
General Practice
- Australians’ views and experience of personal genomic testing: survey findings from the Genioz study
J Savard et al, EJHG, January 21, 2019 - Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: Systematic review.
Canedo Juan R et al. Journal of genetic counseling 2019 Jan
Heart, Lung, Blood and Sleep Diseases
- Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants.
Tamosauskaite Jone et al. The journals of gerontology. Series A, Biological sciences and medical sciences 2019 Jan - Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation A Mendelian Randomization Study
C Ellervik et al, JAMA Cardiology, January 23, 2019 - Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.
Pilling Luke C et al. BMJ (Clinical research ed.) 2019 Jan 364k5222 - Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper.
Gomez Keith et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jan 25(1) 116-126 - Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
Peters Stacey et al. Heart, lung & circulation 2019 Jan 28(1) 31-38 - Integrating Genomics into Management of Fibrotic Interstitial Lung Disease.
Adegunsoye Ayodeji et al. Chest 2019 Jan - The Clinical Utility of a Precision Medicine Blood Test Incorporating Age, Sex, and Gene Expression for Evaluating Women with Stable Symptoms Suggestive of Obstructive Coronary Artery Disease: Analysis from the PRESET Registry.
Gul Burcu et al. Journal of women's health (2002) 2019 Jan - Parental hypercholesterolemia and family medical history as predictors of hypercholesterolemia in their children.
Robledo Jorge A et al. Archivos argentinos de pediatria 2019 117(1) 41-47 - Value of genetic testing in the prevention of coronary heart disease events.
Hynninen Yrjänä et al. PloS one 2019 14(1) e0210010 - Life-threatening arrhythmic presentation in patients with arrhythmogenic cardiomyopathy before and after entering the genomic era; a two-decade experience from a large volume center.
Rootwelt-Norberg Christine et al. International journal of cardiology 2018 Dec - Editorial: designing targeted sequencing panels for dyslipidemia.
Hegele Robert A et al. Current opinion in lipidology 2019 Jan - Precision medicine in childhood asthma.
Slob Elise M et al. Current opinion in allergy and clinical immunology 2019 Jan - Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.
Cui Yuxia et al. Clinical cardiology 2019 Jan
Newborn Screening
- Implications of dried blood spot testing for congenital CMV on management of children with hearing loss: A preliminary report.
Lee Edward R et al. International journal of pediatric otorhinolaryngology 2018 Dec 11910-14 - Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
Sharp Seth A et al. Diabetes care 2019 Jan - Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Wempe Michael F et al. Journal of inherited metabolic disease 2019 Jan
Pharmacogenomics
- Cost-effectiveness analysis of pharmacogenomics-guided clopidogrel treatment in Spanish patients undergoing percutaneous coronary intervention.
Fragoulakis Vasilios et al. The pharmacogenomics journal 2019 Jan - Pharmacogenomics of amlodipine and hydrochlorothiazide therapy and the quest for improved control of hypertension: a mini review.
Johnson Rabia et al. Heart failure reviews 2019 Jan - Re-Examining Genetic Screening and Oral Contraceptives: A Patient-Centered Review.
Hiedemann Bridget et al. Journal of personalized medicine 2019 Jan 9(1)
Reproductive Health
- Miscarriage chromosome testing: Indications, benefits and methodologies.
McQueen Dana B et al. Seminars in perinatology 2018 Dec - Preimplantation genetic diagnosis in early pregnancy loss ✰ .
Vitez Sally F et al. Seminars in perinatology 2018 Dec - Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach.
Reumkens Kelly et al. Familial cancer 2019 Jan - Genetic abnormalities and pregnancy loss.
Blue Nathan R et al. Seminars in perinatology 2018 Dec - Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers.
Benachi Alexandra et al. European journal of medical genetics 2019 Jan - Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences.
Cernat Alexandra et al. BMC pregnancy and childbirth 2019 Jan 19(1) 27
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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