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
- Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.
Lim Grace X Y et al. The Journal of molecular diagnostics : JMD 2015 May 17(3) 302-14
Cancer
- Guidelines for Genomic Array Analysis in Acquired Haematological Neoplastic Disorders.
Schoumans Jacqueline et al. Genes, chromosomes & cancer 2016 Jan - Incorporation of next-generation sequencing into routine clinical care to direct treatment of head and neck squamous cell carcinoma.
Chau Nicole G et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Jan - Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.
Cheng Donavan T et al. The Journal of molecular diagnostics : JMD 2015 May 17(3) 251-64 - Routine molecular profiling of patients with advanced non-small-cell lung cancer: results of a 1-year nationwide programme of the French Cooperative Thoracic Intergroup (IFCT).
Barlesi Fabrice et al. Lancet (London, England) 2016 Jan - ReCAP: Economic Evaluation Alongside a Clinical Trial of Telephone Versus In-Person Genetic Counseling for BRCA1/2 Mutations in Geographically Underserved Areas.
Chang Yaojen et al. Journal of oncology practice / American Society of Clinical Oncology 2016 Jan 12(1) 59 - Using Quality Improvement Methods and Time-Driven Activity-Based Costing to Improve Value-Based Cancer Care Delivery at a Cancer Genetics Clinic.
Tan Ryan Y C et al. Journal of oncology practice / American Society of Clinical Oncology 2016 Jan - Physician trust moderates the relationship between intolerance of uncertainty and cancer worry interference among women with Lynch syndrome.
Torbit Lindsey A et al. Journal of behavioral medicine 2016 Jan - Genetic Testing and Post-Testing Decision Making among BRCA-Positive Mutation Women: A Psychosocial Approach.
Hesse-Biber Sharlene et al. Journal of genetic counseling 2016 Jan - KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients.
Kang Eunyoung et al. Journal of human genetics 2016 Jan - Singapore Cancer Network (SCAN) Guidelines for Referral for Genetic Evaluation of Common Hereditary Cancer Syndromes.
et al. Annals of the Academy of Medicine, Singapore 2015 Oct 44(10) 492-510
Chronic Diseases
- Gluten Introduction and The Risk of Coeliac Disease. A Position Paper By The European Society For Paediatric Gastroenterology, Hepatology & Nutrition.
Szajewska, H, et al. Journal of Pediatric Gastroenterology & Nutrition 2016 Jan 13 - “Big Data” Gets Personal
Science Translational Medicine 20 Jan 2016: Vol. 8, Issue 322, pp. 322fs3-323fs3 - Adding Genetic Testing to Evidence-Based Guidelines to Determine the Safest and Most Effective Chronic Pain Treatment for Injured Workers.
Meshkin Brian et al. International journal of biomedical science : IJBS 2015 Dec 11(4) 157-65 - MSPrecise: A molecular diagnostic test for multiple sclerosis using next generation sequencing.
Rounds William H et al. Gene 2015 Nov 572(2) 191-7 - An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma Naoko et al. Journal of human genetics 2016 Jan - Development of a medication adherence scale for familial Mediterranean fever (MASIF) in a cohort of Turkish children.
Yesilkaya Sirzat et al. Clinical and experimental rheumatology 33(6 Suppl 94) S156-62 - Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment.
Zhang Jinglan et al. The Journal of molecular diagnostics : JMD 2016 Jan - Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti Andrea et al. Orphanet journal of rare diseases 2016 11(1) 4 - Ushering Hypertension Into a New Era of Precision Medicine.
Kotchen Theodore A et al. JAMA 2016 Jan 1-2 - Quantifying prion disease penetrance using large population control cohorts
Minikel EV, et al. Science Translational Medicine 20 Jan 2016: Vol. 8, Issue 322, pp. 322ra9
Ethics, Policy and Law
- Ethics, genetic testing, and athletic talent: children's best interests, and the right to an open (athletic) future.
Camporesi Silvia et al. Physiological genomics 2016 Jan physiolgenomics.00104.2015 - Privacy-preserving genomic testing in the clinic: a model using HIV treatment.
McLaren Paul J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jan
Genomics in Practice
- METHODS TO ENHANCE THE REPRODUCIBILITY OF PRECISION MEDICINE.
Manrai Arjun K et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 21180-2 - UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age.
Sudlow Cathie et al. PLoS medicine 2015 Mar 12(3) e1001779 - Elucidating Genetic Counseling Outcomes from the Perspective of Genetic Counselors.
Zierhut Heather A et al. Journal of genetic counseling 2016 Jan - Analysis of Advantages, Limitations, and Barriers of Genetic Counseling Service Delivery Models.
Cohen Stephanie A et al. Journal of genetic counseling 2016 Jan - Identifying public expectations of genetic biobanks.
Critchley Christine et al. Public understanding of science (Bristol, England) 2016 Jan - Building the Partners HealthCare Biobank at Partners Personalized Medicine: Informed Consent, Return of Research Results, Recruitment Lessons and Operational Considerations.
Karlson Elizabeth W et al. Journal of personalized medicine 6(1)
Newborn Screening
- Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
Upadhye Dipti S et al. PloS one 11(1) e0147081
Reproductive Health
- Follow-up of Multiple Aneuploidies and Single Monosomies Detected by Noninvasive Prenatal Testing: Implications for Management and Counseling.
Snyder Holly L et al. Prenatal diagnosis 2016 Jan - False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
Van Opstal Diane et al. PloS one 2016 11(1) e0146794 - Factors associated with utilization of maternal serum screening for Down syndrome in mainland China: a cross-sectional study.
Li Chuanlin et al. BMC health services research 2016 16(1) 8
Pharmacogenomics
- Economic evaluation of pharmacogenomic-guided warfarin treatment for elderly Croatian atrial fibrillation patients with ischemic stroke.
Mitropoulou Christina et al. Pharmacogenomics 2015 Jan 16(2) 137-48 - THE CHALLENGES IN USING ELECTRONIC HEALTH RECORDS FOR PHARMACOGENOMICS AND PRECISION MEDICINE RESEARCH.
Laper Sarah M et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 21369-80
News/Reviews/Commentaries
- FDA Approves Alectinib for ALK-Positive Non-Small Cell Lung Cancer,
NIH News, January 19, 2016 - NIH’s big cancer database coming soon,
by Lenny Bernstein, The Washington Post, January 14, 2016 - A Major Government Cancer Effort Can Advance Precision Medicine,
By Andy Futreal, New York Times, January 19, 2016 - Questions abound when faced with issue of genetic testing,
by Lisa K. Feulner, MD, PhD Ocular Surgery News U.S. Edition, January 25, 2016 - 32,500 British women unknowingly carry deadly ovarian cancer gene,
by Sarah Knapton, the Telegraph, January 19, 2016 - Prenatal test for Down's syndrome recommended for NHS,
by Lone Hørlyck , Bio News, January 19, 2016 - New guidelines reverse previous recommendations on gluten introduction to prevent celiac disease,
Medical Xpress, January 19, 2016 - Answers for 100,000 Genomes Project participants,
Genome Education Programme, January 18, 2016
Funding Opportunities
- NIH genome sequencing program targets the genomic bases of common, rare disease,
NIH News, January 14, 2016 - NIH genome sequencing program targets the genomic bases of common, rare disease,
NIH, January 14, 2016
Events
- Addressing Gaps in Genetic Services: Regional and National Models in the US
February 2, 2016 ~ Webinar
CDC-Authored Genomics Publications
- Phenotypic, genotypic, and antimicrobial characteristics of Streptococcus halichoeri isolated from humans and proposal to rename Streptococcus halichoeri as Streptococcus halichoeri subsp. halichoeri and description of Streptococcus halichoeri subsp. hominis subsp. nov., a bacterium associated with human clinical infections.
Shewmaker P L, Whitney A M, Humrighouse B W Journal of clinical microbiology 2016 1 0. . - Multilocus sequence typing analysis reveals that Cryptococcus neoformans var. neoformans is a recombinant population.
Cogliati Massimo, Zani Alberto, Rickerts Volker, McCormick Ilka, Desnos-Ollivier Marie, Velegraki Aristea, Escandon Patricia, Ichikawa Tomoe, Ikeda Reiko, Bienvenue Anne-Lise, Tintelnot Kathrin, Tore Okan, Akcaglar Sevim, Lockhart Shawn, Tortorano Anna Maria, Varma Ashok Fungal genetics and biology : FG & B 2016 1 0. 22-29. - Correction for Weigand et al., Complete Genome Sequences of Two Bordetella hinzii Strains Isolated from Humans.
Weigand Michael R, Changayil Shankar, Kulasekarapandian Yasvanth, Batra Dhwani, Loparev Vladimir, Juieng Phalasy, Rowe Lori, Sheth Mili, Davis Jamie K, Tondella M Lucia Genome announcements 2016 0 0. (1) . - Cryptosporidium proliferans n. sp. (Apicomplexa: Cryptosporidiidae): Molecular and Biological Evidence of Cryptic Species within Gastric Cryptosporidium of Mammals.
Kvác Martin, Havrdová Nikola, Hlásková Lenka, Danková Tereza, Kandera Jirí, Ježková Jana, Vítovec Jirí, Sak Bohumil, Ortega Ynes, Xiao Lihua, Modrý David, Chelladurai Jeba Rose Jennifer Jesudoss, Prantlová Veronika, McEvoy John PloS one 2016 0 0. (1) e0147090. - Whole genome multilocus sequence typing as an epidemiologic tool for Yersinia pestis.
Kingry Luke C, Rowe Lori A, Respicio-Kingry Laurel B, Beard Charles B, Schriefer Martin E, Petersen Jeannine M Diagnostic microbiology and infectious disease 2015 12 0. .
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