Publication Date: Jul 30, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.
Paketci C et al. Revue neurologique 2020 Jul - Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.
Seefried L et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020 Jul - A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.
Shikany Amy R et al. The Journal of pediatrics 2020 Jul - Neurofibromatosis type I: Points to be considered by general pediatricians.
Kang Eungu et al. Clinical and experimental pediatrics 2020 Jul - Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran James E D et al. Nature 2020 583(7814) 90-95 - Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.
Segal Michael M et al. Orphanet journal of rare diseases 2020 Jul 15(1) 191
Cancer
- Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach.
Rosa Reginaldo Cruz Alves et al. Gynecologic oncology 2020 Jul - Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
Dominguez-Valentin Mev et al. Journal of clinical medicine 2020 Jul 9(7) - Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão Andreia et al. International journal of molecular sciences 2020 Jul 21(14) - Differences in cancer patients' and clinicians' preferences for disclosure of uncertain genomic tumor testing results.
Fenton Anny T et al. Patient education and counseling 2020 Jul - NCCN Flash Updates: NCCN Guidelines: Updated for Genetic/Familial High-Risk Assessment: Colorectal
- 2020 Implementation Science Consortium in Cancer
- Frontline BRAF Testing-Guided Treatment for Advanced Melanoma in the Era of Immunotherapies: A Cost-Utility Analysis Based on Long-term Survival Data.
Wu Bin et al. JAMA dermatology 2020 Jul - Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer.
Caskey Rachel et al. The Journal of surgical research 2020 Jul 256267-271 - Evaluating the impact of universal Lynch syndrome screening in a publicly funded healthcare system.
Lee Petra W C et al. Cancer medicine 2020 Jul - Clinical implications of breast cancer tumor genomic testing.
Damodaran Senthil et al. The breast journal 2020 Jul - Genetic determinants of lung cancer prognosis in never smokers: A pooled analysis in the International Lung Cancer Consortium.
Brhane Yonathan et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Jul - Why Formalin-fixed, Paraffin-embedded Biospecimens Must Be Used in Genomic Medicine: An Evidence-based Review and Conclusion.
Mathieson William et al. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2020 Jul 22155420945050
Chronic Disease
- Familial Mediterranean fever: What associations to screen for?
Bouomrani Salem et al. Reumatologia 2020 58(3) 150-154 - Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree Matthew B et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Jul
Ethical, Legal and Social Issues (ELSI)
- Responsible, practical genomic data sharing that accelerates research.
Byrd James Brian et al. Nature reviews. Genetics 2020 Jul - Whether, when, and how to communicate genetic risk to minors: 'I wanted more information but I think they were scared I couldn't handle it'.
Stuttgen Kelsey et al. Journal of genetic counseling 2020 Jul - Equity in Health: Consideration of Race and Ethnicity in Precision Medicine.
Edwards Todd L et al. Trends in genetics : TIG 2020 Jul - Genetic testing and employer-sponsored wellness programs: An overview of current vendors, products, and practices.
McDonald Whitney S et al. Molecular genetics & genomic medicine 2020 Jul e1414
General Practice
- Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores.
Folkersen Lasse et al. Frontiers in genetics 2020 11578 - Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations.
Won Dongju et al. Frontiers in neurology 2020 11612 - Direct-to-consumer genetic testing companies tell their customers to 'see a genetic counselor'. How do genetic counselors feel about direct-to-consumer genetic testing?
Hsieh Vicky et al. Journal of genetic counseling 2020 Jul - Tutorial: a guide to performing polygenic risk score analyses.
Choi Shing Wan et al. Nature protocols 2020 Jul - Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
Ormondroyd Elizabeth et al. European journal of human genetics : EJHG 2020 Jul - Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska Sanja et al. Frontiers in genetics 2020 11619
Heart, Lung, Blood and Sleep Diseases
- Sweat chloride assay by inductively coupled plasma mass spectrometry: a confirmation test for cystic fibrosis diagnosis.
Marvelli Antonella et al. Analytical and bioanalytical chemistry 2020 Jul - Molecular screening of familial hypercholesterolemia in Icelanders.
Kellogg Greg et al. Scandinavian journal of clinical and laboratory investigation 2020 Jul 1-7 - Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.
Cherny Sara et al. Journal of genetic counseling 2020 Jul - Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.
Musunuru Kiran et al. Circulation. Genomic and precision medicine 2020 Jul HCG0000000000000067 - Needs analysis of parents following sudden cardiac death in the young.
McDonald Kristie et al. Open heart 2020 Jul 7(2) - An Implementation Science Framework to Develop a Clinical Decision Support Tool for Familial Hypercholesterolemia.
Bangash Hana et al. Journal of personalized medicine 2020 Jul 10(3) - How Will Genetics Inform the Clinical Care of Atrial Fibrillation?
Shoemaker M Benjamin et al. Circulation research 2020 Jun 127(1) 111-127 - Motor repertoire is age-inadequate in infants with cystic fibrosis.
Tekerlek Haluk et al. Pediatric research 2020 Jul
Newborn Screening
- Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies.
González-Irazabal Yolanda et al. Critical reviews in clinical laboratory sciences 2020 Jul 1-20 - A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Václavík Jan et al. JIMD reports 2020 Jul 54(1) 79-86 - Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Stroek Kevin et al. JIMD reports 2020 Jul 54(1) 68-78 - Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jul
Pharmacogenomics
- The pharmacogenetics of opioid treatment for pain management.
Singh Ashley et al. Journal of psychopharmacology (Oxford, England) 2020 Jul 269881120944162 - A Web-Based Pharmacogenomics Search Tool for Precision Medicine in Perioperative Care.
Zarei Sara et al. Journal of personalized medicine 2020 Jul 10(3) - Design and Early Implementation Successes and Challenges of a Pharmacogenetics Consult Clinic.
Arwood Meghan J et al. Journal of clinical medicine 2020 Jul 9(7) - Ex Ante Economic Evaluation of Arg389 Genetically Targeted Treatment with Bucindolol versus Empirical Treatment with Carvedilol in NYHA III/IV Heart Failure.
Alkhatib Nimer et al. American journal of cardiovascular drugs : drugs, devices, and other interventions 2020 Jul - Genetics and Opioids: Towards More Appropriate Prescription in Cancer Pain.
Bugada Dario et al. Cancers 2020 Jul 12(7) - Tracheal aspirate as an alternative biologic sample for pharmacogenomics testing in mechanically ventilated pediatric patients.
Hargreaves Katherine A et al. Clinical and translational science 2020 Jul - Genomics testing and personalized medicine in the preoperative setting: Can it change outcomes in postoperative pain management?
Chaturvedi Rahul et al. Best practice & research. Clinical anaesthesiology 2020 Jun 34(2) 283-295
Reproductive Health
- Is Noninvasive Prenatal Screening Appropriate for Pregnant Women Age 35 or Older In Cases if Isolated Fetal Nasal Bone Abnormalities in The Chinese Han Population?
Chen Yuan et al. Medical science monitor : international medical journal of experimental and clinical research 2020 Jul 26e924387
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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