Publication Date: Sep 19, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development.
Lee Sangbo et al. Pediatric neurology 2019 Jul - Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience.
Suwannachat Sukrit et al. Journal of community genetics 2019 Sep - Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan Elif Acar et al. Brain & development 2019 Sep - Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Costain Gregory et al. Neuroscience 2019 Sep
Cancer
- Endocrine treatment versus chemotherapy in postmenopausal women with hormone receptor-positive, HER2-negative, metastatic breast cancer: a systematic review and network meta-analysis.
Giuliano Mario et al. The Lancet. Oncology 2019 Sep - Fatalism in breast cancer and performing mammography on women with or without a family history of breast cancer.
Molaei-Zardanjani Maryam et al. BMC women's health 2019 Sep 19(1) 116 - Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing.
Troïan Jaïs et al. Psychology, health & medicine 2019 Sep 1-11 - Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status.
Jeon Ho Jong et al. Annals of surgical treatment and research 2019 Sep 97(3) 113-118 - A comprehensive study of the effect on colorectal cancer survival of common germline genetic variation previously linked with cancer prognosis.
He Yazhou et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Sep - Development of a Nomogram to Predict the Recurrence Score of 21-Gene Prediction Assay in Hormone Receptor-Positive Early Breast Cancer.
Yoo Shin Hye et al. Clinical breast cancer 2019 Aug - The spectrum of Lynch syndrome-associated germ-line mutations in Russia.
Yanus Grigoriy A et al. European journal of medical genetics 2019 Sep 103753 - Defining the role of a genetic counselor within pediatric hematology and oncology comprehensive care teams: Perspectives of the provider team and patients.
Hudson Paul et al. Journal of genetic counseling 2019 Sep - A six-gene prognostic model predicts overall survival in bladder cancer patients.
Wang Liwei et al. Cancer cell international 2019 19229 - A large cohort study identifying a novel prognosis prediction model for lung adenocarcinoma through machine learning strategies.
Li Yin et al. BMC cancer 2019 Sep 19(1) 886 - Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.
Nyberg Tommy et al. European urology 2019 Sep - White-light Endoscopy is Adequate for Lynch Syndrome Surveillance in a Randomized and Non-inferiority Study.
Rivero-Sánchez Liseth et al. Gastroenterology 2019 Sep - 21-Gene Recurrence Score and Adjuvant Chemotherapy Decision for Breast Cancer Patients with Positive Lymph Nodes.
Tong Yiwei et al. Scientific reports 2019 Sep 9(1) 13123 - Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.
Manchanda R et al. BJOG : an international journal of obstetrics and gynaecology 2019 Sep - NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019.
Gupta Samir et al. Journal of the National Comprehensive Cancer Network : JNCCN 2019 Sep 17(9) 1032-1041
Chronic Disease
- Apolipoprotein L1 Testing in African Americans: Involving the Community in Policy Discussions.
Young Bessie A et al. American journal of nephrology 2019 Sep 1-9 - Psychiatric genomics researchers' perspectives on best practices for returning results to individual participants.
Kostick Kristin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep - Cognitive and Affective Responses to Mass-media Based Genetic Risk Information in a Socio-demographically Diverse Sample of Smokers.
Waters Erika A et al. Journal of health communication 2019 Sep 1-11
Ethical, Legal and Social Issues (ELSI)
- Racial Representation Disparity of Population-Level Genomic Sequencing Efforts.
Kim Isaac E et al. Studies in health technology and informatics 2019 Aug 264974-978 - Psychosocial Risks Minimal with Genetic Testing.
et al. American journal of medical genetics. Part A 2019 Oct 179(10) 1909-1910 - Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature.
Nugent Adrienne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Lethal privacy: Quantifying life years lost if the right to informational self-determination guides genetic screening for Lynch syndrome.
Gansen Fabia et al. Health policy (Amsterdam, Netherlands) 2019 Aug - Fostering Ethical, Legal, and Social Implications Research in Tribal Communities: The Center for the Ethics of Indigenous Genomic Research.
Hiratsuka Vanessa Y et al. Journal of empirical research on human research ethics : JERHRE 2019 Sep 1556264619872640 - Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives.
Ginoza Margaret E C et al. Cold Spring Harbor perspectives in medicine 2019 Sep
General Practice
- Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Hernan Rebecca et al. Patient education and counseling 2019 Aug - Regional models of genetic services in the United States.
Kaye Celia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep - Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Reuter Chloe M et al. Journal of genetic counseling 2019 Sep
Heart, Lung, Blood and Sleep Diseases
- Antenatal screening for haemoglobinopathies: current status, barriers and ethics.
Chakravorty Subarna et al. British journal of haematology 2019 Sep - The Lifelong Burden of Homozygous Familial Hypercholesterolemia.
Banerjee Ambuja et al. The Canadian journal of cardiology 2019 Jun - Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry.
Duell P Barton et al. Atherosclerosis 2019 Aug 28985-93 - Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.
Terzic M et al. Balkan journal of medical genetics : BJMG 2019 Jun 22(1) 35-40 - The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication.
Harris Stephanie et al. Molecular genetics & genomic medicine 2019 Sep e940 - Thirtieth Anniversary of Cystic Fibrosis Gene Discovery
Francis Collins, NIH Director's blog, August 2019 - Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.
Sugunaraj J P et al. NPJ genomic medicine 2019 421 - Hot Topic: Precision Medicine for Asthma-Has the Time Come?
Li Xingnan et al. Current allergy and asthma reports 2019 Sep 19(10) 45 - Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi Arash et al. Clinical genetics 2019 Sep - Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.
Robyns Tomas et al. European journal of medical genetics 2019 Sep 103754 - Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice.
Lamounier Júnior Arsonval et al. Arquivos brasileiros de cardiologia 2019 Sep 113(2) 274-281 - Estimating the Prevalence of Familial Hypercholesterolemia in Acute Coronary Syndrome: A Systematic Review and Meta-analysis.
Kramer Adam I et al. The Canadian journal of cardiology 2019 Jun
Newborn Screening
- [(S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy].
Boemer F et al. Revue medicale de Liege 2019 Sep 74(9) 461-464 - Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening.
Patrawala Meera et al. Current opinion in allergy and clinical immunology 2019 Sep - Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Liu Zhidai et al. Human mutation 2019 Sep - Rethinking Strategies for Positive Newborn Screening Result (NBS+) Delivery (ReSPoND): a process evaluation of co-designing interventions to minimise impact on parental emotional well-being and stress.
Chudleigh Jane et al. Pilot and feasibility studies 2019 5108 - Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
Burton Barbara K et al. The Journal of pediatrics 2019 Aug
Pharmacogenomics
- Effectiveness of a Pharmacogenetic Tool at Improving Treatment Efficacy in Major Depressive Disorder: A Meta-Analysis of Three Clinical Studies.
Vilches Silvia et al. Pharmaceutics 2019 Sep 11(9) - Are There Different Evidence Thresholds for Genomic Versus Clinical Precision Medicine? A Value of Information-Based Framework Applied to Antiplatelet Drug Therapy.
Guzauskas Gregory F et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Sep 22(9) 988-994 - Pharmacogenomics in chronic pain therapy: from disease to treatment and challenges for clinical practice.
Yamamoto Priscila Akemi et al. Pharmacogenomics 2019 Aug 20(13) 971-982 - Pharmacogenomic Polygenic Response Score Predicts Ischemic Events and Cardiovascular Mortality in Clopidogrel-Treated Patients.
Lewis Joshua P et al. European heart journal. Cardiovascular pharmacotherapy 2019 Sep - Managing Increased Accessibility to Pharmacogenomic Data.
Haga Susanne B et al. Clinical pharmacology and therapeutics 2019 Sep - Assessment of patient knowledge and perceptions of pharmacogenomics before and after using a mock results patient web portal.
Truong Tien M et al. Clinical and translational science 2019 Sep - Advances in the Pharmacogenomics of Antiplatelet Therapy.
Akhtar Tauseef et al. American journal of therapeutics 2019 Sep - The Impact of Pharmacogenomics in Personalized Medicine.
Singh Dev Bukhsh et al. Advances in biochemical engineering/biotechnology 2019 Sep - Clinico-genetic model to predict methotrexate intolerance in rheumatoid arthritis.
Sandhu Amit et al. Clinical rheumatology 2019 Sep - Preemptively Precise: Returning and Updating Pharmacogenetic Test Results to Realize the Benefits of Preemptive Testing.
Haidar Cyrine E et al. Clinical pharmacology and therapeutics 2019 Sep
Reproductive Health
- Perceptions of uncertainties about carrier results identified by exome sequencing in a randomized controlled trial.
Umstead Kendall L et al. Translational behavioral medicine 2019 Aug - Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy.
Gui Baoheng et al. Journal of visualized experiments : JoVE 2019 Aug (150) - Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
Yeager Stephanie et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Sep - Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.
Yan Yousheng et al. Analytical and bioanalytical chemistry 2019 Sep - Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing.
Huang Caiyi et al. Journal of assisted reproduction and genetics 2019 Sep - Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing.
Pös Ondrej et al. International journal of molecular sciences 2019 Sep 20(18)
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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