Published on 01/17/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
Jang Woori et al. Annals of laboratory medicine 2019 May 39(3) 299-310 -
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han Ji Yoon et al. Frontiers in pediatrics 2018 6391 -
Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
Li Shantao et al. The New England journal of medicine 2019 Jan 380(2) 200
Cancer
-
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Brandão Rita D et al. International journal of cancer 2019 Jan -
Results of PONDx, a prospective multicenter study of the Oncotype DX ® breast cancer assay: Real-life utilization and decision impact in French clinical practice.
Curtit Elsa et al. Breast (Edinburgh, Scotland) 2019 Jan 4439-45 -
SMAD4 alteration associates with invasive-front pathological markers and poor prognosis in colorectal cancer.
Oyanagi Hidehito et al. Histopathology 2019 Jan -
Mutational profile of colorectal cancer lung metastases and paired primary tumors by targeted next generation sequencing: implications on clinical outcome after surgery.
Schweiger Thomas et al. Journal of thoracic disease 2018 Nov 10(11) 6147-6157 -
Are BRCA1 and BRCA2 gene mutation patients underscreened for pancreatic adenocarcinoma?
Roch Alexandra M et al. Journal of surgical oncology 2019 Jan -
Three inflammation-related genes could predict risk in prognosis and metastasis of patients with breast cancer.
Zhao Shuangtao et al. Cancer medicine 2019 Jan -
Predicting EGFR Mutation Status in Lung Adenocarcinoma on CT Image Using Deep Learning.
Wang Shuo et al. The European respiratory journal 2019 Jan -
Effect of a Collaboration Between a Health Plan, Oncology Practice, and Comprehensive Genomic Profiling Company from the Payer Perspective.
Reitsma Mitchell et al. Journal of managed care & specialty pharmacy 2019 Jan 1-10 -
Novel three?lncRNA signature predicts survival in patients with pancreatic cancer.
Wu Bin et al. Oncology reports 2018 Dec 40(6) 3427-3437 -
Attitudes toward genomic tumor profiling tests in Japan: patients, family members, and the public.
Nagai Akiko et al. Journal of human genetics 2019 Jan -
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez J C et al. Human genomics 2019 Jan 13(1) 3 -
The diagnostic value of combined detection of genetic markers and serum protein markers on breast cancer.
Li Qiujian et al. Saudi journal of biological sciences 2019 Jan 26(1) 183-187 -
Identification of a 6-gene signature predicting prognosis for colorectal cancer.
Zuo Shuguang et al. Cancer cell international 2019 196 -
The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
Kim Hakyoung et al. Hereditary cancer in clinical practice 2019 171 -
Epigenomic promoter alterations predict for benefit from immune checkpoint inhibition in metastatic gastric cancer.
Sundar R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 Jan
Chronic Disease
-
Efficacy of Integrating a Novel 16-Gene Biomarker Panel and Intelligence Classifiers for Differential Diagnosis of Rheumatoid Arthritis and Osteoarthritis.
Long Nguyen Phuoc et al. Journal of clinical medicine 2019 Jan 8(1) -
Change in Prevalence of Family History During Long-term Follow-up of Pediatric-onset Inflammatory Bowel Disease Patients.
Capone Kristin et al. Journal of pediatric gastroenterology and nutrition 2019 Jan
Practice
-
Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners.
Dwarte Tanya et al. Journal of genetic counseling 2018 Dec -
Patients' perspectives of variants of uncertain significance and strategies for uncertainty management.
Makhnoon Sukh et al. Journal of genetic counseling 2019 Jan -
Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good
E Brodwin, Business Insider, January 7, 2019 -
Core competencies in genetics for healthcare professionals: results from a literature review and a Delphi method.
Tognetto Alessia et al. BMC medical education 2019 Jan 19(1) 19 -
Genetic counselor workflow study: The times are they a-changin'?
Attard Courtney A et al. Journal of genetic counseling 2018 Dec -
Use of generic medicines in Latvia: awareness, opinions and experiences of the population.
Salmane Kulikovska Ieva et al. Journal of pharmaceutical policy and practice 2019 121
Heart, Lung, Blood and Sleep Diseases
-
"I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.
Boardman Felicity K et al. Journal of genetic counseling 2018 Dec -
Self-management recommendations for sickle cell disease: A Ghanaian health professionals' perspective.
Druye Andrews et al. Health science reports 2018 Nov 1(11) e88 -
Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?
da Costa Cláudia Henrique et al. BMC research notes 2019 Jan 12(1) 10 -
Burden of Sickle Cell Disease in Ghana: The Korle-Bu Experience.
Asare Eugenia V et al. Advances in hematology 2018 20186161270
Newborn Screening
-
Recognizing 50 Years of Innovative Newborn Screening in North Carolina.
Turner Lou F et al. North Carolina medical journal 80(1) 45-48 -
Lessons Learned from Newborn Screening in Pilot Studies.
Taylor Jennifer L et al. North Carolina medical journal 80(1) 54-58 -
What is Newborn Screening?
Powell Cynthia M et al. North Carolina medical journal 80(1) 32-36 -
Newborn Screening Policy Decisions: Adding Conditions.
Shone Scott M et al. North Carolina medical journal 80(1) 42-44 -
The Role of the Genetic Counselor in Newborn Screening.
Marcus Gail et al. North Carolina medical journal 80(1) 39-40 -
The Future of Newborn Screening: Why and How Partnerships Will Be Needed for Success.
Bailey Donald B et al. North Carolina medical journal 80(1) 28-31 -
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete Rosa et al. European journal of human genetics : EJHG 2019 Jan
Pharmacogenomics
-
The Effect of Polymorphism in UGT1A4 on Clinical Outcomes of Adjuvant Tamoxifen Therapy for Patients With Breast Cancer in China.
Lan Bo et al. Clinical breast cancer 2018 Dec -
Validation of a clinical pharmacogenetic model to predict methotrexate nonresponse in rheumatoid arthritis patients.
Eektimmerman Frank et al. Pharmacogenomics 2019 Jan -
Tolerance-based capecitabine dose escalation after DPYD genotype-guided dosing in heterozygote DPYD variant carriers: a single-center observational study.
Kleinjan Jan P et al. Anti-cancer drugs 2019 Jan
Reproductive Health
-
Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
Reumkens Kelly et al. Journal of genetic counseling 2018 Dec -
Patient decision-making and the role of the prenatal genetic counselor: An exploratory study.
Salema Diane et al. Journal of genetic counseling 2018 Dec -
Impact of preimplantation genetic testing for aneuploidy on obstetrical practice.
Chan Yiu-Man et al. Current opinion in obstetrics & gynecology 2019 Jan -
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
Heijligers Malou et al. Journal of assisted reproduction and genetics 2018 Nov 35(11) 1995-2002 -
Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
Yadava Stacy M et al. Journal of genetic counseling 2018 Dec -
The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access.
Birko Stanislav et al. BMC pregnancy and childbirth 2019 Jan 19(1) 22 -
Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits, limitations, and challenges.
Grati Francesca Romana et al. Prenatal diagnosis 2019 Jan
News/ Reviews/Comments
-
Public Comment on Draft Recommendation Statement and Draft Evidence Review: Medication Use to Reduce Risk of Breast Cancer
U.S.Preventive Services Task Force, January 2019
Eventr
-
Telegenetics and Its Implementation in Cancer Genetic Counseling
January 30, 2019, 12:00-1:00pm EST