About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
Health Impact Weekly Scan
Human Genomics across the Lifespan
Birth Defects and Child Health
- Guidelines for genetic skeletal dysplasias for pediatricians.
Cho Sung Yoon et al. Annals of pediatric endocrinology & metabolism 2015 Dec 20(4) 187-91 - Predictive genetic testing of minors: evidence and experience with families.
Biesecker Barbara B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jan
Cancer
- Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study.
Harris Marian H et al. JAMA oncology 2016 Jan - Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.
Jongmans Marjolijn C J et al. European journal of medical genetics 2016 Jan - Clinical evaluation of postoperative chemotherapy based on genetic testing in patients with stage IIIA non-small cell lung cancer.
Miao Jinbai et al. Thoracic cancer 2016 Jan 7(1) 44-9 - Personalizing chemotherapy dosing using pharmacological methods.
Patel Jai N et al. Cancer chemotherapy and pharmacology 2015 Nov 76(5) 879-96 - A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services.
Rinke Michael L et al. Pediatrics 2016 Jan - Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.
Ripperger Tim et al. European journal of human genetics : EJHG 2016 Jan - Molecular Genetics External Quality Assessment Pilot Scheme for Irinotecan-Related UGT1A1 Genotyping in China.
Yi Lang et al. PloS one 2016 11(1) e0148081 - What is your family’s risk of hereditary breast and ovarian cancer? You have to look at the male side, too,
WCSH6, February 2, 2016 - Genetic sequencing can help guide treatment in children with solid tumors,
Dana-Faber Cancer Institute, January 28, 2016 - Mismatch repair deficiency in Lynch syndrome-associated colorectal adenomas is more prevalent in older patients.
Tanaka Masahiro et al. Histopathology 2016 Jan
Chronic Diseases
- Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac Mihaela et al. Molecular genetics and metabolism 2016 Jan
Genomics in Practice
- Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees.
Baptista Natalie M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jan - Adopted Individuals Seek DTC Genomics Services to Learn About Family History, Genetic Disease Risk,
Genome Web, January 29, 2016 [by free subscription only] - Implications of direct-to-consumer whole-exome sequencing in South Africa.
Lombard Zané et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(2) 139-40
Cardiovascular Diseases
- Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Van Driest Sara L et al. JAMA 2016 Jan 315(1) 47-57
Pharmacogenomics
- Pharmacogenetics-based warfarin dosing algorithm decreases time to stable anticoagulation and the risk of major hemorrhage: an updated meta-analysis of randomized controlled trials.
Wang Zhi-Quan et al. Journal of cardiovascular pharmacology 2015 Apr 65(4) 364-70 - Effects and cost-effectiveness of pharmacogenetic screening for CYP2D6 among older adults starting therapy with nortriptyline or venlafaxine: study protocol for a pragmatic randomized controlled trial (CYSCEtrial).
Berm Elizabeth J J et al. Trials 2015 1637
News/Reviews/Commentaries
- The ‘beginning of the end’ for cancer chemotherapy?
Genomics Education Programme, February 2, 2016 - Being a ‘morning person’ has a genetic basis, 23andMe study says,
by Arielle Duhaime-Ross, the Verge, February 2, 2016 - All Colon Colorectal Cancer Patients to be Screened for Lynch Syndrome,
Stop Colon Cancer Now, January 25, 2016 - As genomic information grows, so do security risks,
by Bill Hathaway, Medical Xpress, February 2, 2016 - Chronic pain may be linked to genetic changes in the immune system,
by Yvette Brazier, Medical News Today, February 1, 2016 - Precision Trials Challenge,
Harvard Business School - The "Bunny Ear" hypothesis: How defective DNA looping may contribute to cancer,
by Hannah Naughton, NHGRI, January 29, 2016 - When a Bad Animal Model is Good: Cystic Fibrosis,
by Ricki Lewis, DNA Science Blog, January 28, 2016 - The National Cancer Moonshot Begins to Take Shape,
NIH News, February 2, 2016 - Genome-Wide Study Yields Markers of Lithium Response,
NIH News, January 28, 2016
Funding Opportunities
- NHGRI to Fund Short-Term Genomic Education Courses,
Genome Web, January 29, 2016 [by free subscription only] - http://grants.nih.gov/grants/guide/pa-files/PAR-16-090.html
CDC-Authored Genomics Publications
- Development and Validation of an Improved PCR Method Using 23S-5S Intergenic Spacer for Detection of Rickettsiae in Dermacentor variabilis Ticks and Tissue Samples from Humans and Laboratory Animals.
Kakumanu Madhavi L, Ponnusamy Loganathan, Sutton Haley T, Meshnick Steven R, Nicholson William L, Apperson Charles S Journal of clinical microbiology 2016 1 0. . - From genomic medicine to precision medicine: highlights of 2015.
Auffray Charles, Caulfield Timothy, Griffin Julian L, Khoury Muin J, Lupski James R, Schwab Matthias Genome medicine 2016 0 0. (1) 12. - Gene integrated set profile analysis: a context-based approach for inferring biological endpoints.
Kowalski Jeanne, Dwivedi Bhakti, Newman Scott, Switchenko Jeffery M, Pauly Rini, Gutman David A, Arora Jyoti, Gandhi Khanjan, Ainslie Kylie, Doho Gregory, Qin Zhaohui, Moreno Carlos S, Rossi Michael R, Vertino Paula M, Lonial Sagar, Bernal-Mizrachi Leon, Boise Lawrence H Nucleic acids research 2016 1 0. .
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