Publication Date: Jul 9, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee Jiwon et al. Molecular genetics & genomic medicine 2020 Jul e1376 - Clinical Genomics in Critically Ill Infants and Children.
Raymond F Lucy et al. JAMA 2020 323(24) 2480-2482 - Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.
Hu Xuyun et al. Frontiers in genetics 2020 11473 - The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.
Padidela Raja et al. Orphanet journal of rare diseases 2020 Jun 15(1) 172 - Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study.
Iyer Alexander A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).
Eker Omer F et al. Orphanet journal of rare diseases 2020 Jun 15(1) 165 - Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke Heather B et al. Journal of genetic counseling 2020 Jun - Development of in-house genetic screening for pediatric hearing loss.
Doerfer Karl W et al. Laryngoscope investigative otolaryngology 2020 Jun 5(3) 497-505 - A new screening strategy and whole-exome sequencing for the early diagnosis of maturity-onset diabetes of the young.
Liu Yue et al. Diabetes/metabolism research and reviews 2020 Jul e3381
Cancer
- Is tumor testing efficiency for Lynch syndrome different in rectal and colon cancer?
Marabelli Monica et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2020 Jun - Oncotype DX Breast Recurrence Score ® : A Review of its Use in Early-Stage Breast Cancer.
Syed Yahiya Y et al. Molecular diagnosis & therapy 2020 Jul - Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
Jia Guochong et al. JNCI cancer spectrum 2020 Jun 4(3) pkaa021 - Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.
Klek Stefan et al. JNCI cancer spectrum 2020 Jun 4(3) pkaa018 - Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer.
O'Mara Tracy A et al. British journal of cancer 2020 Jul - Family History of Cancer as Potential Prognostic Factor in Stage III Colorectal Cancer: a Retrospective Monoinstitutional Study.
Parisi Alessandro et al. Journal of gastrointestinal cancer 2020 Jul - The prognostic impact of variant allele frequency (VAF) in TP53 mutant patients with MDS: a systematic review and meta-analysis.
Deng Jili et al. European journal of haematology 2020 Jul - Dynamic contrast-enhanced magnetic resonance imaging for risk-stratified screening in women with BRCA mutations or high familial risk for breast cancer: are we there yet?
Whitaker Kristen D et al. Breast cancer research and treatment 2020 Jul - Costs of in-house genomic profiling and implications for economic evaluation: A case example of non-small cell lung cancer (NSCLC).
Johnston Karissa M et al. Journal of medical economics 2020 Jun 1
Chronic Disease
- Additive and Multiplicative Interactions Between Genetic Risk Score and Family History and Lifestyle in Relation to Risk of Type 2 Diabetes.
Ding Ming et al. American journal of epidemiology 2020 189(5) 445-460 - Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.
Sun Hong-Sheng et al. World journal of clinical cases 2020 Jun 8(12) 2530-2541 - Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study.
Forgetta Vincenzo et al. PLoS medicine 2020 Jul 17(7) e1003152 - Polygenic risk scores allow risk stratification for keratinocyte cancer in organ transplant recipients.
Seviiri Mathias et al. The Journal of investigative dermatology 2020 Jun
Ethical, Legal and Social Issues (ELSI)
- Does Solidarity Require "All of Us" to Participate in Genomics Research?
Neuhaus Carolyn P et al. The Hastings Center report 2020 May 50 Suppl 1S62-S69 - Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results.
Reid Allecia E et al. Social science & medicine (1982) 2020 Jun 113147 - Adult adoptees and their use of direct-to-consumer genetic testing: Searching for family, searching for health.
Lee Heewon et al. Journal of genetic counseling 2020 Jun - Legal Challenges for IT Service Providers in Pharmacogenomics.
Meier Lea et al. Studies in health technology and informatics 2020 Jun 27247-50
General Practice
- Pharmacogenomics Meets Precision Cardio-Oncology: Is there synergistic potential?
Hockings Jennifer K et al. Human molecular genetics 2020 Jun - Yield and clinical significance of genetic screening in elite and amateur athletes.
Limongelli Giuseppe et al. European journal of preventive cardiology 2020 Jul 2047487320934265 - Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Lacaze Paul et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul - Clinical outcomes of a genomic screening program for actionable genetic conditions.
Buchanan Adam H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Implementation considerations for offering personal genomic risk information to the public: a qualitative study.
Smit Amelia K et al. BMC public health 2020 Jun 20(1) 1028 - Effect of Incorporating Genetic Testing Results into Nutrition Counseling and Care on Health Outcomes: An Evidence Analysis Center Systematic Review-Part II.
Ellis Amy et al. Journal of the Academy of Nutrition and Dietetics 2020 Jul - Consensus Report of the Academy of Nutrition and Dietetics: Incorporating Genetic Testing into Nutrition Care.
Braakhuis Andrea et al. Journal of the Academy of Nutrition and Dietetics 2020 Jul - Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Michaelson-Cohen Rachel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul - The Emerging Field of Polygenic Risk Scores and Perspective for Use in Clinical Care.
Yanes Tatiane et al. Human molecular genetics 2020 Jul - Direct-to-consumer genomic testing: Are nurses prepared?
Flowers Elena et al. Nursing 2020 Jun
Heart, Lung, Blood and Sleep Diseases
- Folic acid supplementation in children with sickle cell disease: study protocol for a double-blind randomized cross-over trial.
Williams Brock A et al. Trials 2020 Jun 21(1) 593 - Cumulative outcome of pre-implantation genetic diagnosis for sickle cell disease: a 5-year review.
Vali Saaliha et al. British journal of haematology 2020 Jul - Long Term Prognostic Utility of Matrix Metalloproteinase-9 in Patients with Acute Coronary Syndrome - A Systematic Review.
Das Anamika et al. Current pharmaceutical biotechnology 2020 Jul - Prognosis and Clinical Characteristics of Dilated Cardiomyopathy With Family History via Pedigree Analysis.
Marume Kyohei et al. Circulation journal : official journal of the Japanese Circulation Society 2020 Jul
Pharmacogenomics
- Evaluation of the suitability of 19 pharmacogenomics biomarkers for individualized metformin therapy for type 2 diabetes patients.
Xhakaza Lettilia et al. Drug metabolism and personalized therapy 2020 Jun - PharmVar GeneFocus: CYP2C19.
Botton Mariana R et al. Clinical pharmacology and therapeutics 2020 Jun - Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics.
Morales-Rosado Joel A et al. Cardiovascular drugs and therapy 2020 Jul
Reproductive Health
- Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit Kristjan E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer.
Mir Pardo Pere et al. Genes 2020 Jun 11(6) - Preimplantation genetic testing and chances of a healthy live birth amongst recipients of fresh donor oocytes in the United States.
Roeca Cassandra et al. Journal of assisted reproduction and genetics 2020 Jul - Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic.
Vance Amy et al. Journal of assisted reproduction and genetics 2020 Jul - Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Oneda Beatrice et al. European journal of obstetrics, gynecology, and reproductive biology 2020 Jun 25219-29 - A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N et al. Prenatal diagnosis 2020 Jul - Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array.
Niu Wenbin et al. BMC pregnancy and childbirth 2020 Jul 20(1) 388
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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