Publication Date: Nov 21, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Graziola Federica et al. Frontiers in genetics 2019 101026 - Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser Hannah et al. Orphanet journal of rare diseases 2019 Nov 14(1) 258 - Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang Jingjing et al. BMC medical genetics 2019 Nov 20(1) 180 - A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies.
White Wendy et al. Gene therapy 2019 Nov - PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan Arif O et al. Retina (Philadelphia, Pa.) 2019 Nov - Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
Wang Dan-Dan et al. Acta ophthalmologica 2019 Nov - Medical Minute: How to discuss family health history with children,
Penn State Health, November 13, 2019
Cancer
- Knowledge and opinions regarding BRCA1 and BRCA2 genetic testing among primary care physicians.
Dekanek Erin W et al. Journal of genetic counseling 2019 Nov - Risk-Adapted Starting Age of Screening for Relatives of Patients With Breast Cancer.
Mukama Trasias et al. JAMA oncology 2019 Nov - Colorectal cancer screening for patients with a family history of colorectal cancer or adenomas.
Wilkinson Anna N et al. Canadian family physician Medecin de famille canadien 2019 Nov 65(11) 784-789 - Prospective study to define the clinical utility and benefit of Decipher testing in men following prostatectomy.
Marascio Joseph et al. Prostate cancer and prostatic diseases 2019 Nov - Impact of the 2018 ASCO/CAP guidelines on HER2 fluorescence in situ hybridization interpretation in invasive breast cancers with immunohistochemically equivocal results.
Wang Bo et al. Scientific reports 2019 Nov 9(1) 16726 - Colorectal cancer screening behaviors of general surgeons and first-degree family members: a survey-based study.
Celik Suleyman Utku et al. BMC gastroenterology 2019 Nov 19(1) 183 - Detection of rare and novel EGFR mutations in NSCLC patients: Implications for treatment-decision.
Sousa A C et al. Lung cancer (Amsterdam, Netherlands) 2019 Nov 13935-40 - Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants.
Wilson Carmen L et al. Pediatric blood & cancer 2019 Nov e28047
Chronic Disease
- Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles.
Dombrádi Viktor et al. BMC health services research 2019 Nov 19(1) 823 - Polygenic Risk Score Contribution to Psychosis Prediction in a Target Population of Persons at Clinical High Risk.
Perkins Diana O et al. The American journal of psychiatry 2019 Nov appiajp201918060721 - Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla M Adela et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019 Nov
Ethical, Legal and Social Issues (ELSI)
- Considering Equity in Assessing Familial Benefit From the Return of Genomic Research Results.
Goldenberg Aaron J et al. Pediatrics 2019 Nov - Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
Ross Lainie Friedman et al. Pediatrics 2019 Nov - Changing the Conversation about The Ethics of Genomics and Health Disparities Research with American Indian and Alaska Native Communities: A Report from the Field.
Hull Sara Chandros et al. Journal of health care for the poor and underserved 2019 30(4S) 21-26 - Prioritising African perspectives in psychiatric genomics research: Issues of translation and informed consent.
Kamaara Eunice et al. Developing world bioethics 2019 Nov - Envisioning Future Research and Clinical Practice with a Bioethics Lens: A Word for the Next Generation of Researchers (<i>All of Us</i> Research Program, Activism, and Policy Implications).
Richardson-Heron Dara et al. Journal of health care for the poor and underserved 2019 30(4S) 36-42 - Evaluation of current regulation and guidelines of pharmacogenomic drug labels; opportunities for improvements.
Shekhani Rawan et al. Clinical pharmacology and therapeutics 2019 Nov
General Practice
- Qualifying and quantifying the precision medicine rhetoric.
Lee Jasmine et al. BMC genomics 2019 Nov 20(1) 868 - Optimizing efficiency and skill utilization: Analysis of genetic counselors' attitudes regarding delegation in a clinical setting.
Read Parker et al. Journal of genetic counseling 2019 Nov - Tracking heredity: Family health history matters,
by Treva Lind, The Spokeman-Review, November 13, 2019 - Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Bean Lora J H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - Affiliate network members as force amplifiers of genomic medicine research.
Ginsburg Geoffrey S et al. Personalized medicine 2019 Nov 16(6) 431-433
Heart, Lung, Blood and Sleep Diseases
- Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark.
Larsen Maiken Kudahl et al. International journal of legal medicine 2019 Nov - Variation in hospital admission of sickle cell patients from the emergency department using the Pediatric Health Information System.
Jacob Seethal A et al. Pediatric blood & cancer 2019 Nov e28067 - Estimated Life Expectancy and Income of Patients With Sickle Cell Disease Compared With Those Without Sickle Cell Disease.
Lubeck Deborah et al. JAMA network open 2019 Nov 2(11) e1915374 - Cystic fibrosis precision therapeutics: Emerging considerations.
Joshi Disha et al. Pediatric pulmonology 2019 Nov 54 Suppl 3S13-S17 - Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.
Marschall Christoph et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S292-S298 - Hypertrophic cardiomyopathy: genetics and clinical perspectives.
Wolf Cordula Maria et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S388-S415 - Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
Rojnueangnit Kitiwan et al. Pediatric cardiology 2019 Nov
Newborn Screening
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
Wang Huaiyan et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Nov - Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.
Scott Clifford Ronald et al. The Journal of pediatrics 2019 Nov
Pharmacogenomics
- Pharma-Oncogenomics in the Era of Personal Genomics: A Quick Guide to Online Resources and Tools.
Joshi Rohan P et al. Advances in experimental medicine and biology 2019 1168103-115 - Tacrolimus Therapeutic Drug Monitoring in Stable Kidney Transplantation and Individuation of CYP3A5 Genotype.
Allegri L et al. Transplantation proceedings 2019 Nov 51(9) 2917-2920 - Impact of Pharmacogenomics on Clinical Outcomes for Patients Taking Medications With Gene-Drug Interactions in a Randomized Controlled Trial.
Thase Michael E et al. The Journal of clinical psychiatry 2019 Oct 80(6)
Reproductive Health
- Maternal genetic diseases: potential concerns for mother and baby.
Stone Julie et al. Human genetics 2019 Nov - Preimplantation Genetic Testing for Aneuploidy Improves Clinical, Gestational, and Neonatal Outcomes in Advanced Maternal Age Patients Without Compromising Cumulative Live-Birth Rate.
Sacchi Laura et al. Journal of assisted reproduction and genetics 2019 Nov - Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.
Zhao Mingjue et al. Scientific reports 2019 Nov 9(1) 16481 - The association of HBB -related significant hemoglobinopathies and low fetal fraction on noninvasive prenatal screening for fetal aneuploidy.
Putra Manesha et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Nov 1-5
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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