Publication Date: Mar 19, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- The role of targeted gene panel in pediatric drug-resistant epilepsy.
Wu Chang-Chun et al. Epilepsy & behavior : E&B 2020 Mar 106107003 - Patient-reported burden of hereditary angioedema: findings from a US patient survey.
Banerji Aleena et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Mar - Mitochondrial disease in children.
Rahman Shamima et al. Journal of internal medicine 2020 Mar - Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft Sarah J et al. Annals of clinical and translational neurology 2020 Mar - Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked Naomi et al. European journal of medical genetics 2020 Mar 103901 - Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Borch Lauren A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar - Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez Leslie P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Apr 41(4) 431-437
Cancer
- How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Wu David et al. Haematologica 2020 Mar - Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.
Heald Brandie et al. Familial cancer 2020 Mar - Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett Alice et al. Journal of medical genetics 2020 Mar - From Somatic Variants Toward Precision Oncology: An Investigation of Reporting Practice for Next-Generation Sequencing-Based Circulating Tumor DNA Analysis.
Peng Rongxue et al. The oncologist 2020 Mar 25(3) 218-228 - Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review.
Coletta Adriana M et al. Hereditary cancer in clinical practice 2020 185 - Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis.
Fumagalli Caterina et al. Journal of clinical pathology 2020 Mar 73(3) 168-171 - Use of an Online Breast Cancer Risk Assessment and Patient Decision Aid in Primary Care Practices.
Eden Karen B et al. Journal of women's health (2002) 2020 Mar - The impact of Oncotype DX breast cancer assay results on clinical practice: a UK experience.
Crolley Valerie E et al. Breast cancer research and treatment 2020 Mar - GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2 .
Lee Eun Jin et al. Annals of clinical and laboratory science 2020 Jan 50(1) 107-118 - How and when to refer patients for oncogenetic counseling in the era of PARP inhibitors.
Neviere Zoé et al. Therapeutic advances in medical oncology 2020 121758835919897530
Chronic Disease
- Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study.
Tillerås Kristine H et al. Journal of genetic counseling 2020 Mar - "Choosing Wisely": Apolipoprotein E Genetic Testing for the Diagnosis of Alzheimer's Disease in Dementia Clinics.
Yang Hyun Ju et al. Journal of Alzheimer's disease : JAD 2020 Mar - Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.
Guan Yue et al. Journal of genetic counseling 2020 Mar
Ethical, Legal and Social Issues (ELSI)
- 'It's much more grey than black and white': clinical geneticists' views on the oversight of consumer genomics in Europe.
Kalokairinou Louiza et al. Personalized medicine 2020 Mar - "My Research Is Their Business, but I'm Not Their Business": Patient and Clinician Perspectives on Commercialization of Precision Oncology Data.
Spector-Bagdady Kayte et al. The oncologist 2020 Mar - The Ethics of Delivering Precision Medicine-Pretest Counseling and Somatic Genomic Testing.
Borno Hala T et al. JAMA oncology 2020 Mar - An Alaska Native community's views on genetic research, testing, and return of results: Results from a public deliberation.
Hiratsuka Vanessa Y et al. PloS one 2020 15(3) e0229540 - Evolving public views on the value of one's DNA and expectations for genomic database governance: Results from a national survey.
Briscoe Forrest et al. PloS one 2020 15(3) e0229044
General Practice
- Clinical Interpretation of Sequence Variants.
Zhang Junyu et al. Current protocols in human genetics 2020 Jun 106(1) e98 - International consortium for personalized medicine: an international survey about the future of personalized medicine.
Venne Julien et al. Personalized medicine 2020 Mar
Heart, Lung, Blood and Sleep Diseases
- Genes associated with inflammation may serve as biomarkers for the diagnosis of coronary artery disease and ischaemic stroke.
Zheng Peng-Fei et al. Lipids in health and disease 2020 Mar 19(1) 37 - Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
Pagin A et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS25-eS29 - Genomic susceptibility in practice: The regulatory trajectory of non-rare thrombophilia (NRT) genetic tests in the clinical management of venous thrombo-embolism (VTE).
Turrini Mauro et al. Social science & medicine (1982) 2020 Mar 112903 - Protocol for the EARCO Registry: a pan-European observational study in patients with α 1 -antitrypsin deficiency.
Greulich Timm et al. ERJ open research 2020 Jan 6(1) - Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales Ana et al. Circulation. Genomic and precision medicine 2020 Mar - Overcoming current limitations of genetic testing in cardiovascular medicine.
Marian Ali J et al. Current opinion in cardiology 2020 Mar - Current and future diagnosis of cystic fibrosis: Performance and limitations.
Bienvenu T et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS19-eS24 - Genetic counseling for cystic fibrosis: A basic model with new challenges.
Bieth E et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS30-eS34 - Genetic Cardiovascular Conditions - It's All About Family.
Skinner Jonathan R et al. Heart, lung & circulation 2020 Apr 29(4) 495-497
Newborn Screening
- Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
Langan Thomas J et al. JIMD reports 2020 Mar 52(1) 35-42 - Newborn screening for CF in France: An exemplary national experience.
Audrézet M P et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS35-eS40
Pharmacogenomics
- Genotype-guided warfarin therapy: Still of only questionable value two decades on.
Shah Rashmi R et al. Journal of clinical pharmacy and therapeutics 2020 Mar - Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views.
Hejazian Seyede Mina et al. Expert review of clinical pharmacology 2020 Feb 13(2) 147-156
Reproductive Health
- Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.
Gadsbøll Kasper et al. Acta obstetricia et gynecologica Scandinavica 2020 Mar - A genomics approach to females with infertility and recurrent pregnancy loss.
Maddirevula Sateesh et al. Human genetics 2020 Mar - Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening.
Chen Dongjia et al. Journal of assisted reproduction and genetics 2020 Mar
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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