June 16-23, 2016
Health Impact Weekly Scan
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.
Baughman Serena Talcott et al. American journal of medical genetics. Part A 2015 Oct 167A(10) 2350-6 - New NIH studies seek adults and families affected by sickle cell disease/trait Researchers hope to shed light on symptom severity, family role
J Mjoseth, NHGRI, June 2016 - The economic burden of tuberous sclerosis complex in the UK: a retrospective cohort study in the Clinical Practice Research Datalink.
Kingswood John C et al. Journal of medical economics 2016 Jun 1-37 - Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
Shepherd Maggie et al. Diabetes care 2016 Jun - Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.
Szego Michael J et al. Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Acade´mie canadienne de psychiatrie de l'enfant et de l'adolescent 2016 25(2) 116-21 - The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Baynam Gareth et al. Orphanet journal of rare diseases 2016 11(1) 77 - Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.
Sharma Pankaj et al. Gene 2016 Jun - Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
Agarwal Archana M et al. British journal of haematology 2016 Jun - Use of genome-editing tools to treat sickle cell disease.
Tasan Ipek et al. Human genetics 2016 Jun - Time to Invest in Sickle Cell Anemia as a Global Health Priority.
McGann Patrick T et al. Pediatrics 2016 Jun 137(6)
Cancer
- The financial hazard of personalized medicine and supportive care.
Carrera Pricivel M et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2015 Dec 23(12) 3399-401 - Cancer Visibility among Iranian Familial Networks: To What Extent Can We Rely on Family History Reports?
Molavi Vardanjani Hossein et al. PloS one 2015 10(8) e0136038 - Spot the difference: genomic sub-types of leukaemia
Genomics Education Program UK, June 13, 2016 - Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.
Ossa Carlos Andrés et al. The oncologist 2016 Jun - Colorectal Cancer Screening- Which Test Is Best?
JM Inadomi, JAMA Oncology, June 16, 2016 - Blood-Based Screening for Colon Cancer- A Disruptive Innovation or Simply a Disruption?
RB Parikh et al, JAMA< June 16, 2016 - Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing.
Cohn Jason et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2015 Sep 30(3) 573-9 - Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
Byers Helen et al. European journal of human genetics : EJHG 2016 Jun - The Brazilian Hereditary Cancer Network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil.
Ashton-Prolla Patricia et al. Genetics and molecular biology 2016 Jun 0 - Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study.
Flória-Santos Milena et al. Genetics and molecular biology 2016 Jun 0 - The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
Bunnell A E et al. Journal of genetic counseling 2016 Jun - Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer.
Eismann Sabine et al. Archives of gynecology and obstetrics 2016 Jun - The Relevance of Hereditary Cancer Risks to Precision Oncology: What Should Providers Consider When Conducting Tumor Genomic Profiling?
Jain Rishi et al. Journal of the National Comprehensive Cancer Network : JNCCN 2016 Jun 14(6) 795-806 - Combined clinical and genetic testing algorithm for cervical cancer diagnosis.
Liou Yu-Ligh et al. Clinical epigenetics 2016 866 - Counselling framework for moderate-penetrance cancer-susceptibility mutations.
Tung Nadine et al. Nature reviews. Clinical oncology 2016 Jun - Enhanced Risk-Based Lung Cancer Screening May Prevent More Deaths than Current Approaches
NCI, June 2016 - Association of Biomarker-Based Treatment Strategies With Response Rates and Progression-Free Survival in Refractory Malignant Neoplasms: A Meta-analysis.
Schwaederle Maria et al. JAMA oncology 2016 Jun - Clinical validity and utility of genetic risk scores in prostate cancer.
Helfand Brian T et al. Asian journal of andrology 2016 Jun - Blood Test for Genetic Changes in Tumors Shows Promise as Alternative to Tumor Biopsy
NCI, June 14, 2016 - Cancer moonshot countdown
D Lowy et al, Nature Biotechnology, June 2016 - Screening for Colorectal Cancer- US Preventive Services Task Force Recommendation Statement
JAMA, June 15, 2016 - Family history matters.
Wood Marie E et al. Cancer 2016 Jun
Chronic Diseases
- Guidelines for the management and treatment of periodic fever syndromes familial Mediterranean fever.
Terreri Maria Teresa R A et al. Revista brasileira de reumatologia 56(1) 37-43 - Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?
Stark Zornitza et al. Journal of medical ethics 2016 Jun - NIH Precision Medicine Initiative: Implications for Diabetes Research.
Fradkin Judith E et al. Diabetes care 2016 Jun - Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes.
Wu R Ryanne et al. Journal of genetic counseling 2016 Jun
Ethics, Policy and Law
- GENOMICS. A federated ecosystem for sharing genomic, clinical data.
et al. Science (New York, N.Y.) 2016 Jun 352(6291) 1278-80 - Will Precision Medicine Move Us beyond Race?
Bonham Vence L et al. The New England journal of medicine 2016 May 374(21) 2003-5 - Sequenom, the U.S. Supreme Court, and Personalized Medicine.
Kodroff Cathy A et al. Human gene therapy. Clinical development 2016 Jun - Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation.
Shugar Andrea L et al. Journal of genetic counseling 2016 Jun - ACLU v. Myriad Genetics, Round 2: The Problem of Governance-by-Guidance,
by John Conley, Genomics Law Report, June 9, 2016 - Preventing Mitochondrial DNA Diseases: One Step Forward, Two Steps Back.
Cohen I Glenn et al. JAMA 2016 Jun - Sharing genomic, clinical data
EMBL-EBI, June 2016 - Survey Launch on Public Attitudes Toward Genomic Data Sharing
A Proffit, Bio IT World, June 2016 - Your DNA, Your Say
A survey about your online health data and how it might be used by others. - Promising gene therapies pose million-dollar conundrum
E Hayden, Nature News, June 15, 2016
Genomics in Practice
- Against Genetic Tests for Athletic Talent: The Primacy of the Phenotype.
Loland Sigmund et al. Sports medicine (Auckland, N.Z.) 2015 Sep 45(9) 1229-33 - Meta-Analysis of Genes in Commercially Available Nutrigenomic Tests Denotes Lack of Association with Dietary Intake and Nutrient-Related Pathologies.
Pavlidis Cristiana et al. Omics : a journal of integrative biology 2015 Sep 19(9) 512-20 - Genetic counseling in an age of genomic uncertainty
Mark Wanner, Jackson Laboratory, June 2016 - Opinion: Big data biomedicine offers big higher education opportunities.
Van Horn John Darrell et al. Proceedings of the National Academy of Sciences of the United States of America 2016 Jun 113(23) 6322-4 - Precision Public Health Summit: Day 2, Morning Session
UCSF Video session features Bill Riley (NIH), Muin Khoury (CDC), June 7, 2016 - Focus on Aging
Cell Metabolism - Global Alliance for Genomics & Health Argues for Federated Data Ecosystem
BioIT World, June 9, 2016 - Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalized Nutrition: Part 2 - Ethics, Challenges and Endeavors of Precision Nutrition.
Kohlmeier Martin et al. Journal of nutrigenetics and nutrigenomics 2016 Jun 9(1) 28-46 - Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research.
Boutin Natalie T et al. Journal of personalized medicine 2016 6(2) - What is CRISPR? And how can it be used to turn genes 'off'?
M Shipman, Phys.Org, June 14, 2016 - How a liver-damaging drug may give a boost to gene therapy
J Kaiser, Science, June 8, 2016 - FDA chief aims to recruit 100 million Americans for precision medicine research
Stat News, June 9, 2016 - ASCO focuses on precision medicine
L Huang, Genome Magazine, June 9, 2016 - Precision Public Health: Big Data's Next Big Idea
Sue Desmond-Hellman, video presentation, Johns Hopkins, December 2015. - Precision Public Health Summit: Leaders Voice Hope for Change
USCF, youtube video, June 2016 - Are DIY gene-testing kits a good idea?
By Sharon Brennan, the Guardian, June 13, 2016 - Precision Public Health: Reconciling Biological and Social Determinants of Health
M Khoury, CDC Blog post, June 15, 2016 - Genome editing: promising, but beware the hype
L Blackburn, PHG Foundation, June 15, 2016 - Genes for a ‘Wellderly’ Life
JSK Kauwe et al, Cell Metabolism, June 2016 - The Envirome: Where Precision Medicine Meets Public Health
Mark Hoffman | TEDxUMKC, Youtube Video, 2016 - Genes and Athletic Performance: An Update.
Ahmetov Ildus I et al. Medicine and sport science 2016 6141-54
Cardiovascular Diseases
- Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients
Spoonamore KG, et al. Front. Cardiovasc. Med., 31 May 2016
Reproductive Health
- Preimplantation Genetic Diagnosis (PGD) for Monogenic Disorders: the Value of Concurrent Aneuploidy Screening.
Goldman Kara N et al. Journal of genetic counseling 2016 Jun - Attitudes Toward Discussing Approved and Investigational Treatments for Cystic Fibrosis in Prenatal Genetic Counseling Practice.
Elsas Caroline Rung et al. Journal of genetic counseling 2016 Jun - Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss.
Murugappan Gayathree et al. Human reproduction (Oxford, England) 2016 Jun - Impact of the Introduction of Non-Invasive Prenatal Genetic Testing on Invasive Tests - A Single-Center Study in Japan.
Sekiguchi Masaki et al. Congenital anomalies 2016 Jun - Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?
Brezina Paul R et al. Journal of assisted reproduction and genetics 2016 Jun
Pharmacogenomics
- Can a Genetic Test Determine the Best Medications for My Son?
Dear Jeannie, NSGC blog post, June 2016 - The integration and interpretation of pharmacogenomics - a comparative study between the United States of America and Europe: towards better health care.
Bartlett Mark J et al. Drug metabolism and personalized therapy 2016 Jun 31(2) 91-6 - Cost-effectiveness of pharmacogenetic-guided dosing of warfarin in the United Kingdom and Sweden.
Verhoef T I et al. The pharmacogenomics journal 2016 Jun - Pharmacokinetic Pharmacogenetic Prescribing Guidelines for Antidepressants: A Template for Psychiatric Precision Medicine.
Nassan Malik et al. Mayo Clinic proceedings 2016 Jun - Verification of five pharmacogenomics-based warfarin administration models.
Lin Meiqin et al. Indian journal of pharmacology 48(3) 258-63
News/Reviews/Commentaries
- Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out,
by Kat Snow, NPR, June 5, 2016 - Are DIY gene-testing kits a good idea?
By Sharon Brennan, the Guardian, June 13, 2016 - Why We Should Finish the Human Genome,
by Harold "Skip" Garner, Scientific American, June 10, 2016 - Genome editing: promising, but beware the hype,
by Dr Laura Blackburn, PHG Foundation, June 15, 2016 - Dozens of autism genes have cancer connections,
by Jessica Wright, Spectrum News, June 10, 2016 - The 'black box' of personalised medicine?
by Julian Harris, PHG Foundation, June 14, 2016
Funding Opportunities
- NIH Awards $2M Grant for Development of Genomic Medicine Legal Framework,
Genome Web, June 10, 2016
CDC-Authored Genomics Publications
- A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Hinton Cynthia F, Homer Charles J, Thompson Alexis A, Williams Andrea, Hassell Kathryn L, Feuchtbaum Lisa, Berry Susan A, Comeau Anne Marie, Therrell Bradford L, Brower Amy, Harris Katharine B, Brown Christine, Monaco Jana, Ostrander Robert J, Zuckerman Alan E, Kaye Celia, Dougherty Denise, Greene Carol, Green Nancy S, Molecular genetics and metabolism 2016 5 0. . - Genetic Basis of Irritant Susceptibility in Health Care Workers.
Yucesoy Berran, Talzhanov Yerkebulan, Barmada M Michael, Johnson Victor J, Kashon Michael L, Baron Elma, Wilson Nevin W, Frye Bonnie, Wang Wei, Fluharty Kara, Gharib Rola, Meade Jean, Germolec Dori, Luster Michael I, Nedorost Susan Journal of occupational and environmental medicine / American College of Occupational and Environmental Medicine 2016 5 0. . - Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.
Machiela Mitchell J, Zhou Weiyin, Karlins Eric, Sampson Joshua N, Freedman Neal D, Yang Qi, Hicks Belynda, Dagnall Casey, Hautman Christopher, Jacobs Kevin B, Abnet Christian C, Aldrich Melinda C, Amos Christopher, Amundadottir Laufey T, Arslan Alan A, Beane-Freeman Laura E, Berndt Sonja I, Black Amanda, Blot William J, Bock Cathryn H, Bracci Paige M, Brinton Louise A, Bueno-de-Mesquita H Bas, Burdett Laurie, Buring Julie E, Butler Mary A, Canzian Federico, Carreón Tania, Chaffee Kari G, Chang I-Shou, Chatterjee Nilanjan, Chen Chu, Chen Constance, Chen Kexin, Chung Charles C, Cook Linda S, Crous Bou Marta, Cullen Michael, Davis Faith G, De Vivo Immaculata, Ding Ti, Doherty Jennifer, Duell Eric J, Epstein Caroline G, Fan Jin-Hu, Figueroa Jonine D, Fraumeni Joseph F, Friedenreich Christine M, Fuchs Charles S, Gallinger Steven, Gao Yu-Tang, Gapstur Susan M, Garcia-Closas Montserrat, Gaudet Mia M, Gaziano J Michael, Giles Graham G, Gillanders Elizabeth M, Giovannucci Edward L, Goldin Lynn, Goldstein Alisa M, Haiman Christopher A, Hallmans Goran, Hankinson Susan E, Harris Curtis C, Henriksson Roger, Holly Elizabeth A, Hong Yun-Chul, Hoover Robert N, Hsiung Chao A, Hu Nan, Hu Wei, Hunter David J, Hutchinson Amy, Jenab Mazda, Johansen Christoffer, Khaw Kay-Tee, Kim Hee Nam, Kim Yeul Hong, Kim Young Tae, Klein Alison P, Klein Robert, Koh Woon-Puay, Kolonel Laurence N, Kooperberg Charles, Kraft Peter, Krogh Vittorio, Kurtz Robert C, LaCroix Andrea, Lan Qing, Landi Maria Teresa, Marchand Loic Le, Li Donghui, Liang Xiaolin, Liao Linda M, Lin Dongxin, Liu Jianjun, Lissowska Jolanta, Lu Lingeng, Magliocco Anthony M, Malats Nuria, Matsuo Keitaro, McNeill Lorna H, McWilliams Robert R, Melin Beatrice S, Mirabello Lisa, Moore Lee, Olson Sara H, Orlow Irene, Park Jae Yong, Patiño-Garcia Ana, Peplonska Beata, Peters Ulrike, Petersen Gloria M, Pooler Loreall, Prescott Jennifer, Prokunina-Olsson Ludmila, Purdue Mark P, Qiao You-Lin, Rajaraman Preetha, Real Francisco X, Riboli Elio, Risch Harvey A, Rodriguez-Santiago Benjamin, Ruder Avima M, Savage Sharon A, Schumacher Fredrick, Schwartz Ann G, Schwartz Kendra L, Seow Adeline, Wendy Setiawan Veronica, Severi Gianluca, Shen Hongbing, Sheng Xin, Shin Min-Ho, Shu Xiao-Ou, Silverman Debra T, Spitz Margaret R, Stevens Victoria L, Stolzenberg-Solomon Rachael, Stram Daniel, Tang Ze-Zhong, Taylor Philip R, Teras Lauren R, Tobias Geoffrey S, Van Den Berg David, Visvanathan Kala, Wacholder Sholom, Wang Jiu-Cun, Wang Zhaoming, Wentzensen Nicolas, Wheeler William, White Emily, Wiencke John K, Wolpin Brian M, Wong Maria Pik, Wu Chen, Wu Tangchun, Wu Xifeng, Wu Yi-Long, Wunder Jay S, Xia Lucy, Yang Hannah P, Yang Pan-Chyr, Yu Kai, Zanetti Krista A, Zeleniuch-Jacquotte Anne, Zheng Wei, Zhou Baosen, Ziegler Regina G, Perez-Jurado Luis A, Caporaso Neil E, Rothman Nathaniel, Tucker Margaret, Dean Michael C, Yeager Meredith, Chanock Stephen J Nature communications 2016 0 0. 11843. - A knowledge base for tracking the impact of genomics on population health.
Yu Wei, Gwinn Marta, Dotson W David, Green Ridgely Fisk, Clyne Mindy, Wulf Anja, Bowen Scott, Kolor Katherine, Khoury Muin J Genetics in medicine : official journal of the American College of Medical Genetics 2016 6 0. . - Comparative value of blood and skin samples for diagnosis of spotted fever group rickettsial infection in model animals.
Levin Michael L, Snellgrove Alyssa N, Zemtsova Galina E Ticks and tick-borne diseases 2016 5 0. . - Bartonella melophagi in blood of domestic sheep (Ovis aries) and sheep keds (Melophagus ovinus) from the southwestern US: Cultures, genetic characterization, and ecological connections.
Kosoy Michael, Bai Ying, Enscore Russell, Rizzo Maria Rosales, Bender Scott, Popov Vsevolod, Albayrak Levent, Fofanov Yuriy, Chomel Bruno Veterinary microbiology 2016 7 0. 43-9. - Domain I of the 5' non-translated genomic region in coxsackievirus B3 RNA is not required for productive replication.
Jaramillo L, Smithee S, Tracy S, Chapman N M Virology 2016 6 0. 127-130. - Turtles as a Possible Reservoir of Nontyphoidal Salmonella in Shanghai, China.
Zhang Jianmin, Kuang Dai, Wang Fei, Meng Jianghong, Jin Huiming, Yang Xiaowei, Liao Ming, Klena John D, Wu Shuyu, Zhang Yongbiao, Xu Xuebin Foodborne pathogens and disease 2016 6 0. . - Decline in frequency of the 2La chromosomal inversion in Anopheles gambiae (s.s.) in Western Kenya: correlation with increase in ownership of insecticide-treated bed nets.
Matoke-Muhia Damaris, Gimnig John E, Kamau Luna, Shililu Josephat, Bayoh M Nabie, Walker Edward D Parasites & vectors 2016 0 0. (1) 334. - Genomic Investigation Reveals Highly Conserved, Mosaic, Recombination Events Associated with Capsular Switching among Invasive Neisseria meningitidis Serogroup W Sequence Type (ST) - 11 Strains.
Mustapha Mustapha M, Marsh Jane W, Krauland Mary G, Fernandez Jorge O, de Lemos Ana Paula S, Dunning Hotopp Julie C, Wang Xin, Mayer Leonard W, Lawrence Jeffrey G, Hiller N Luisa, Harrison Lee H Genome biology and evolution 2016 6 0. .
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