Publication Date: Jul 18, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care.
Delanty Norman et al. Epilepsia 2019 Jul - What is the role of next generation sequencing in status epilepticus?
Guerrini Renzo et al. Epilepsy & behavior : E&B 2019 Jul - The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.
Jabbari Edwin et al. Movement disorders : official journal of the Movement Disorder Society 2019 Jul - Quantitative analysis of a rare disease network's international contact database and E-repository provides insights into biobanking in the electronic consent era.
Suarez Alexander et al. Orphanet journal of rare diseases 2019 Jul 14(1) 173
Cancer
- Risk prediction models for colorectal cancer incorporating common genetic variants: a systematic review.
McGeoch Luke et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Jul - Plasma miRNA-based Signatures in CRC Screening Programs.
Zanutto Susanna et al. International journal of cancer 2019 Jul - Usefulness of immunohistochemistry for mismatch repair protein and microsatellite instability examination in adenocarcinoma and background endometrium of sporadic endometrial cancer cases.
Saeki Harumi et al. The journal of obstetrics and gynaecology research 2019 Jul - Intra-individual variation of circulating tumour DNA in lung cancer patients.
Hojbjerg Johanne A et al. Molecular oncology 2019 Jul - Prospective, multicenter study on the economic and clinical impact of gene-expression assays in early-stage breast cancer from a single region: the PREGECAM registry experience.
Pérez Ramírez S et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 Jul - The impact of genetic counseling on patient engagement in a specialty cancer clinic.
Zakas Anna L et al. Journal of genetic counseling 2019 Jul - Integrating genetic counseling and testing in the pediatric oncology setting: Parental attitudes and influencing factors.
Desrosiers Lauren R et al. Pediatric blood & cancer 2019 Jul e27907 - Lynch syndrome in urologic malignancies - what does the urologist need to know?
Goldberg Hanan et al. Urology 2019 Jul - An eHealth Decision-Support Tool to Prioritize Referral Practices for Genetic Evaluation of Patients with Wilms Tumour.
Cullinan Noelle et al. International journal of cancer 2019 Jul - Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Xavier Alexandre et al. Molecular genetics & genomic medicine 2019 Jul e850
Chronic Disease
- Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.
Graziano Francesca et al. Human genetics 2019 Jul 138(7) 739-748 - The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.
van der Spek Rick A A et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Aug 20(5-6) 432-440
Ethical, Legal and Social Issues (ELSI)
- Genetic discrimination by Australian insurance companies: a survey of consumer experiences.
Tiller Jane et al. European journal of human genetics : EJHG 2019 Jul - Consent and Autonomy in the Genomics Era.
Horton Rachel et al. Current genetic medicine reports 2019 7(2) 85-91 - A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know.
Lenk Christian et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 Jul
General Practice
- Professionals' accounts of genetic testing in adoption: a qualitative study.
Arribas-Ayllon Michael et al. Archives of disease in childhood 2019 Jul - Training Texas Public Health Professionals and Professionals-In-Training in Genomics.
Chen Lei-Shih et al. American journal of health promotion : AJHP 2019 Jul 890117119860040 - Cost-effectiveness of population genomic screening.
Veenstra David L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul - Invited review-next-generation sequencing: a modern tool in cytopathology.
Roy-Chowdhuri Sinchita et al. Virchows Archiv : an international journal of pathology 2019 Jul 475(1) 3-11 - The current state of genetic counseling assistants in the United States.
Hnatiuk Morgan J et al. Journal of genetic counseling 2019 Jul
Heart, Lung, Blood and Sleep Diseases
- Understanding the genetics of asthma and implications for clinical practice.
Mammen Jennifer R et al. Journal of the American Association of Nurse Practitioners 2019 Jul 31(7) 384-387 - Finding missed cases of familial hypercholesterolemia in health systems using machine learning.
Banda Juan M et al. NPJ digital medicine 2019 223 - Prevalence and Cardiovascular Health Impact of Family History of Premature Heart Disease in the United States: Analysis of the National Health and Nutrition Examination Survey, 2007-2014.
Moonesinghe Ramal et al. Journal of the American Heart Association 2019 Jul 8(14) e012364 - Women with inherited bleeding disorders - Challenges and strategies for improved care.
Presky Keren O et al. Thrombosis research 2019 Jul - Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy.
Limongelli Giuseppe et al. International journal of cardiology 2019 Jul - Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.
Monasky Michelle M et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2019 Jul
Newborn Screening
- Newborn hereditary elliptocytosis confirmed by familial genetic testing.
Liu Changseung et al. International journal of laboratory hematology 2019 Jul - Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Shaik Muntaj et al. Indian journal of pediatrics 2019 Jul
Pharmacogenomics
- Pharmacogenomics, CYP2D6, and Tamoxifen: A Survey of the Reasons Sustaining European Clinical Practice Paradigms.
Reis Sara S et al. Medicina (Kaunas, Lithuania) 2019 Jul 55(7) - Using pharmacogenetics in primary care.
Murfin Melissa et al. JAAPA : official journal of the American Academy of Physician Assistants 2019 Jul - Pharmacogenomics Clinical Annotation Tool (PharmCAT).
Sangkuhl Katrin et al. Clinical pharmacology and therapeutics 2019 Jul
Reproductive Health
- Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study.
Lv Weigang et al. BJOG : an international journal of obstetrics and gynaecology 2019 Jul - Can cell-free DNA testing be used in pregnancies with increased nuchal translucency?
Miranda Jezid et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Jul - A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).
Yeung Queenie S Y et al. Journal of assisted reproduction and genetics 2019 Jul - Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Liu Yan et al. Diagnostic pathology 2019 Jul 14(1) 76 - Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi Alana C et al. Molecular genetics & genomic medicine 2019 Jul e836 - Women's health providers' perspectives on preimplantation genetic testing.
Romanski Phillip A et al. Reproductive biomedicine online 2019 May - Effects of melatonin administration on mental health parameters, metabolic and genetic profiles in women with polycystic ovary syndrome: A randomized, double-blind, placebo-controlled trial.
Shabani Azade et al. Journal of affective disorders 2019 25051-56
Event
- The 2019 HBOC and Lynch Syndrome Family Day
Michigan Public Health Institute, Register for event, September 21, 2019
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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