Publication Date: Apr 23, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu Xiaoxuan et al. European journal of neurology 2020 Apr - Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan Jing et al. EBioMedicine 2020 Apr 54102730 - Diagnostic and Therapeutic Applications of Genomic Medicine in Progressive, Late-Onset, Nonsyndromic Sensorineural Hearing Loss.
Jimenez Joaquin E et al. Gene 2020 Apr 144677
Cancer
- Addition of an online, validated family history questionnaire to the Dutch FIT-based screening programme did not improve its diagnostic yield.
Roos Victorine H et al. British journal of cancer 2020 Apr - Investigating the Link between Lynch Syndrome and Breast Cancer.
Sheehan Megan et al. European journal of breast health 2020 Apr 16(2) 106-109 - Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.
Sutherland Nykole et al. Journal of genetic counseling 2020 Apr - Mainstream consent programs for genetic counseling in cancer patients: A systematic review.
Scheinberg Tahlia et al. Asia-Pacific journal of clinical oncology 2020 Apr - The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure.
Menko Fred H et al. European journal of human genetics : EJHG 2020 Apr - Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke Cédric et al. Breast cancer research : BCR 2020 Apr 22(1) 36 - Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences.
Leskela Susanna et al. The American journal of surgical pathology 2020 May 44(5) 649-656 - Screening TCGA database for prognostic genes in lower grade glioma microenvironment.
Ni Jie et al. Annals of translational medicine 2020 Mar 8(5) 209 - Role of oncogenic KRAS in the diagnosis, prognosis and treatment of pancreatic cancer.
Buscail Louis et al. Nature reviews. Gastroenterology & hepatology 2020 17(3) 153-168 - Potential impact of family history-based screening guidelines on the detection of early-onset colorectal cancer.
Gupta Samir et al. Cancer 2020 Apr
Chronic Disease
- Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.
Nestor Jordan G et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Apr
Ethical, Legal and Social Issues (ELSI)
- What motivates the sharing of consumer-generated genomic information?
Hendricks-Sturrup Rachele M et al. SAGE open medicine 2020 82050312120915400 - Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication.
Thomassen Hammerstad Gøril et al. Journal of genetic counseling 2020 Apr - Biobanking for Genomic and Personalized Health Research: Participant Perceptions and Preferences.
Barnes Rebecca et al. Biopreservation and biobanking 2020 Apr - Precision Medicine and the Institutional Review Board: Ethics and the Genome.
Matrana Marc R et al. The Ochsner journal 2020 20(1) 98-103 - Return of Research-Related Genetic Test Results and Genetic Discrimination Concerns: Facilitators and Barriers of Genetic Research Participation in Diverse Groups.
Burnett-Hartman Andrea N et al. Public health genomics 2020 Apr 1-10 - Genetic testing for neurodegenerative diseases: Ethical and health communication challenges.
Roberts J Scott et al. Neurobiology of disease 2020 Apr 104871
General Practice
- A road map for the future: An exploration of attitudes, perceptions, and beliefs among African Americans to tailor health promotion of cancer-related genetic counseling and testing.
Lumpkins Crystal Y et al. Journal of genetic counseling 2020 Apr - A Roadmap for Global Acceleration of Genomics Integration Across Nursing.
Tonkin Emma et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2020 Apr - In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research.
Sabatello Maya et al. Public health genomics 2020 Apr 1-12 - Transforming personalized nutrition practice.
Barrow Michelle et al. Nutrition reviews 2020 Apr
Heart, Lung, Blood and Sleep Diseases
- Alpha-1 Antitrypsin Deficiency and Pregnancy.
Gaeckle Nate T et al. COPD 2020 Apr 1-7 - A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.
Leal Luis G et al. Molecular genetics & genomic medicine 2020 Apr e1248 - Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Brantly Mark et al. Orphanet journal of rare diseases 2020 Apr 15(1) 96 - Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
Mazzarotto Francesco et al. Journal of the American Heart Association 2020 Apr 9(8) e015473 - Prevalence and diagnostic value of nail fold capillary microscopy in hereditary hemorrhagic telangiectasia: A retrospective study.
Kroon Steven et al. Vascular medicine (London, England) 2020 Apr 1358863X20910479 - Development of a genomic DNA reference material panel for thalassemia genetic testing.
Yin Zhenzhen et al. International journal of laboratory hematology 2020 Apr - microRNA neural networks improve diagnosis of acute coronary syndrome (ACS).
Kayvanpour Elham et al. Journal of molecular and cellular cardiology 2020 Apr - Laboratory Limitations of Excluding Hereditary Protein C Deficiency by Chromogenic Assay: Discrepancies of Phenotype and Genotype.
Seidel Holger et al. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 261076029620912028 - American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults.
DeBaun M R et al. Blood advances 2020 Apr 4(8) 1554-1588 - A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.
Hendricks-Sturrup Rachele M et al. Journal of personalized medicine 2020 Apr 10(2)
Newborn Screening
- Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins Christopher J et al. Frontiers in immunology 2020 11464
Pharmacogenomics
- Understanding the state of pharmacogenomic testing for thiopurine methyltransferase within a large health system.
Root Adam et al. Pharmacogenomics 2020 Apr - The clinical utility of combinatorial pharmacogenomic testing for patients with depression: a meta-analysis.
Brown Lisa et al. Pharmacogenomics 2020 Apr - Cost-effectiveness of combinatorial pharmacogenomic testing for depression from the Canadian public payer perspective.
Tanner Julie-Anne et al. Pharmacogenomics 2020 Apr
Reproductive Health
- Preimplantation genetic testing for aneuploidy in poor ovarian responders with four or fewer oocytes retrieved.
Deng Jie et al. Journal of assisted reproduction and genetics 2020 Apr - Implementation of exome sequencing in fetal diagnostics - data and experiences from a tertiary center in Denmark.
Becher Naja et al. Acta obstetricia et gynecologica Scandinavica 2020 Apr - The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.
Sillon Guillaume et al. Journal of genetic counseling 2020 Apr - Exploring experiences and expectations of prenatal health care and genetic counseling/testing in immigrant Latinas.
Garza Georgiann et al. Journal of genetic counseling 2020 Apr - Prenatal Testing In Pregnancies Conceived By In Vitro Fertilization With Pre-implantation Genetic Testing.
Arian Sara et al. Prenatal diagnosis 2020 Apr
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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