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
- Diagnostic odyssey in severe neurodevelopmental disorders: Towards clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon Julien et al. Clinical genetics 2016 Jan - Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Stavropoulos DJ, et al. Genomic Medicine 1, Article number: 15012 (2016) Jan 13 - Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.
Carey John C et al. Indian journal of pediatrics 2016 Jan
Cancer
- Assessing cost-utility of predictive biomarkers in oncology: a streamlined approach.
Safonov Anton et al. Breast cancer research and treatment 2016 Jan - Monitoring Techniques for Hereditary Breast and Ovarian Cancer Being Developed,
by Colin G. Evans, PhD, Target Oncology, January 12, 2016 - The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.
Sermijn Erica et al. Familial cancer 2016 Jan - Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet
Ngeow J, et al. Genomic Medicine 1, (2016)Jan 13 - Cancer blood test venture faces technical hurdles,
by Erika Check Hayden, - Three Rounds of External Quality Assessment in France to Evaluate the Performance of 28 Platforms for Multiparametric Molecular Testing in Metastatic Colorectal and Non-Small Cell Lung Cancer.
Dequeker Elisabeth M C et al. The Journal of molecular diagnostics : JMD 2016 Jan - Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.
Liu Suqin et al. Human genomics 2015 92 - Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.
Moreno L et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2016 Jan - Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.
Mucci Lorelei A et al. JAMA 2016 Jan 315(1) 68-76 - Developing and assessing the utility of a You-Tube based clinical genetics video channel for families affected by inherited tumours.
Jones G E et al. Familial cancer 2016 Jan - Transforming Cancer Prevention through Precision Medicine and Immune-oncology.
Kensler Thomas W et al. Cancer prevention research (Philadelphia, Pa.) 2016 Jan 9(1) 2-10 - Family Ties: The Role of Family Context in Family Health History Communication About Cancer.
Rodríguez Vivian M et al. Journal of health communication 2016 Jan 1-10 - Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.
Siu Albert L et al. Annals of internal medicine 2016 Jan
Chronic Diseases
- First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.
Adams David et al. Current opinion in neurology 2016 Jan - Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
Obici Laura et al. Current opinion in neurology 2016 Jan
Genomics in Practice
- Genetics, lifestyle and environment : UK Biobank is an open access resource following the lives of 500,000 participants to improve the health of future generations.
Trehearne Andrew et al. Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2016 Jan - Medical genetics and genomic medicine in Rwanda.
Uwineza Annette et al. Molecular genetics & genomic medicine 2015 Nov 3(6) 486-489 - Genomic medicine goes mainstream
Scherer SW Genomic Medicine 2016 Jan 13 - Integrating Cadaver Exome Sequencing Into a First-Year Medical Student Curriculum.
Gerhard Glenn S et al. JAMA 2016 Jan 1-2 - Establishing the Clinical Validity of Arrhythmia-Related Genetic Variations Using the Electronic Medical Record: A Valid Take on Precision Medicine?
Feero William Gregory et al. JAMA 2016 Jan 315(1) 33-5 - Is the genomic translational pipeline being disrupted?
Williams Marc S et al. Human genomics 2015 99 - 'Is this knowledge mine and nobody else's? I don't feel that.' Patient views about consent, confidentiality and information-sharing in genetic medicine.
Dheensa Sandi et al. Journal of medical ethics 2016 Jan - Current needs for human and medical genomics research infrastructure in low and middle income countries.
Forero Diego A et al. Journal of medical genetics 2016 Jan - Genetic Testing: Understanding the Personal Stories.
DuBois James M et al. Narrative inquiry in bioethics 2015 5(3) 201-3 - Personal Narratives of Genetic Testing: Expectations, Emotions, and Impact on Self and Family.
Anderson Emily E et al. Narrative inquiry in bioethics 2015 5(3) 229-35 - Peering into Vulnerable Genes: Genetic Risk and Population Screening.
Young Michael J et al. Narrative inquiry in bioethics 2015 5(3) 222-4 - Training the Future Leaders in Personalized Medicine.
Mason-Suares Heather et al. Journal of personalized medicine 2016 6(1) - Mapping the human genome: Implications for practice.
Quigley Patricia et al. Nursing 2015 Sep 45(9) 26-34; quiz 34-5 - Direct to consumer genetic testing: is it the moment?
Lamoril Jérôme et al. Annales de biologie clinique 2016 Jan - Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs.
Pan Vivian et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jan - Precision Medicine and Low- to Middle-Income Countries.
Rehman Abdul et al. JAMA oncology 2016 Jan 1-2
Cardiovascular Diseases
- Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry.
Horowitz C R et al. Contemporary clinical trials 2015 Dec - Clinical phenotype in relation to the distance-to-index-patient in familial hypercholesterolemia.
Besseling Joost et al. Atherosclerosis 2015 Dec 2461-6 - Predicting Self-Management Behaviors in Familial Hypercholesterolemia Using an Integrated Theoretical Model: the Impact of Beliefs About Illnesses and Beliefs About Behaviors.
Hagger Martin S et al. International journal of behavioral medicine 2016 Jan - Familial Hypercholesterolemia: The Reason to Screen Children for Cholesterol Abnormalities.
Daniels Stephen R et al. The Journal of pediatrics 2015 Dec - An initiative to extend testing for familial hypercholesterolaemia across the U.K.
Nicholls Mark et al. European heart journal 2015 Oct 36(39) 2627-8 - ANNALS EXPRESS: Molecular testing for familial hypercholesterolemia-associated mutations in a UK-based cohort: Development of an NGS-based method and comparison with multiplex PCR and oligonucleotide arrays.
Reiman Ann et al. Annals of clinical biochemistry 2016 Jan
Newborn Screening
- Newborn screening for cystic fibrosis - The parent perspective.
Rueegg Corina S et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2015 Dec - Survival of children with sickle cell disease in the comprehensive newborn screening programme in Minas Gerais, Brazil.
Sabarense Alessandra Palhoni et al. Paediatrics and international child health 2015 Nov 35(4) 329-32 - Newborn Screening for Sickle Cell Disease in Liberia: A Pilot Study.
Tubman Venée N et al. Pediatric blood & cancer 2016 Jan - Newborn screening of metabolic disorders.
Arélin Maria et al. Journal of pediatric endocrinology & metabolism : JPEM 2016 Jan 29(1) 1-3 - Improving survival for children with sickle cell disease: newborn screening is only the first step.
McGann Patrick T et al. Paediatrics and international child health 2015 Nov 35(4) 285-6 - Newborn Screening in India.
Kamath S Sachidananda et al. Indian pediatrics 2015 May 52(5) 373-4
Reproductive Health
- What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis.
Shkedi-Rafid Shiri et al. Prenatal diagnosis 2016 Jan - Two kinds of common prenatal screening tests for Down's syndrome: a systematic review and meta-analysis.
Yao Yuan et al. Scientific reports 2016 618866 - Spanish- and English-Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections.
Floyd Erin et al. Journal of genetic counseling 2016 Jan - Noninvasive prenatal testing: impact on invasive prenatal diagnosis at a mainland Chinese tertiary medical center.
Li Dong-Zhi et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 Jan 1-12 - CELL FREE DNA TESTING AFTER COMBINED TEST: FACTORS AFFECTING THE UPTAKE.
Maiz Nerea et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 Jan 1-16 - First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21.
Maxwell Susannah et al. The Australian & New Zealand journal of obstetrics & gynaecology 2016 Jan - 14 Years of Polish Experience in Non-Invasive Prenatal Blood Group Diagnosis.
Orzinska Agnieszka et al. Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur¨ Transfusionsmedizin und Immunham¨atologie 2015 Nov 42(6) 361-4 - Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result.
Revello Rocio et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Jan
Pharmacogenomics
- Economic Evaluations of Pharmacogenetic and Pharmacogenomic Screening Tests: A Systematic Review. Second Update of the Literature.
Berm Elizabeth J J et al. PloS one 2016 11(1) e0146262 - Clinical implementation of pharmacogenetics.
García-González Xandra et al. Drug metabolism and personalized therapy 2016 Jan
Tools and Databases
- ClinicalGenetics,
The University Hospitals of Leicester and University of Leicester Clinical Genetics YouTube Channel - Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.
Hakenberg Jörg et al. BMC bioinformatics 2016 17(1) 24
News/Reviews/Commentaries
- China embraces precision medicine on a massive scale.
Cyranoski David Nature 2016 1 0. (7584) 9-10. - Illumina’s Bid to Beat Cancer with DNA Tests,
by Antonio Regalado, MIT Technology Review, January 10, 2016 - First children diagnosed in DNA project, Report,
The British Journal, January 12, 2016 - An Algorithm Could Know You Have A Genetic Disease Before You Do,
by Anna Maria Barry-Jester, Five Thirty Eight Science, January 13, 2016 - DNA-testing kit 23andme: patient-powered healthcare or just confusing?
By Ann Robinson, the Guardian, January 12, 2016 - Between Openness and Privacy in Genomics.
Vayena Effy, Gasser Urs PLoS medicine 2016 1 0. (1) e1001937. - Seven Billion Genomes,
Genome Magazine, January 11, 2016 - Growing a Family Tree - Finding lost relatives is getting easier with genetic testing and social media.
By Sonya Collins, Genome Magazine, Winter 2015 - A Personalized Diet, Better Suited To You,
by Kate Murphy, New York Times Blog, January 11, 2016 - Experts urge Biden to expand access to patient genetics in cancer ‘moonshot’,
by Patrick Skerrett, STAT, January 13, 2016 - Independence Blue Cross to cover whole genome sequencing,
by John George, Philadelphia Business Journal, January 11, 2016 - Opinion: We don't just need precision medicine, we need precision health,
by Lloyd Minor, Medical Xpress, January 12, 2016 - Brave New World,
by Kendall K. Morgan, Genome Magazine, Winter 2015 - Obama proposes cancer “moonshot” in State of the Union address,
Nature News, January 13, 2016 - Five Hot Genetics Issues to Watch in 2016,
by Jehannine C. Austin, National Society of Genetic Counselors, January 13, 2016 - Illumina reaches for the cancer testing GRAIL,
by Dr Laura Blackburn, PHG Foundation, January 12, 2016 - Whole genome sequencing can help pinpoint diagnoses,
CBS News, January 13, 2016 - Task force issues breast cancer screening recommendations,
by Ashley Welch, CBS News, January 11, 2016 - Precision medicine growth hinges on electronic health records,
by John Andrews, Healthcare IT News, January 7, 2016 - Patients Should Receive Study Results,
Genome Magazine, January 11, 2016 - The NIH, in pursuit of precision medicine, tries to avoid ghosts of its past,
by Sheila Kaplan, STAT, January 11, 2016 - First genome project diagnoses give hope to two four-year-olds,
by Ian Sample, the Guardian, January 11, 2016 - First children diagnosed in DNA project,
by James Gallagher, BBC News, January 12, 2016 - Take It Personally,
by Julie Dugdale, 5280 the Denver Magazine, January 2016
CDC-Authored Genomics Publications
- The Problem of Carbapenemase Producing Carbapenem-Resistant Enterobacteriaceae Detection.
Lutgring Joseph D, Limbago Brandi M Journal of clinical microbiology 2016 1 0. . - Human Heat shock protein 40 (Hsp40/DnaJB1) promotes influenza A virus replication by assisting nuclear import of viral ribonucleoproteins.
Batra Jyoti, Tripathi Shashank, Kumar Amrita, Katz Jacqueline M, Cox Nancy J, Lal Renu B, Sambhara Suryaprakash, Lal Sunil K Scientific reports 2016 0 0. 19063. - Identification and Characterization of Microsatellite Markers Derived from the Whole Genome Analysis of Taenia solium.
Pajuelo Mónica J, Eguiluz María, Dahlstrom Eric, Requena David, Guzmán Frank, Ramirez Manuel, Sheen Patricia, Frace Michael, Sammons Scott, Cama Vitaliano, Anzick Sarah, Bruno Dan, Mahanty Siddhartha, Wilkins Patricia, Nash Theodore, Gonzalez Armando, García Héctor H, Gilman Robert H, Porcella Steve, Zimic Mirko, PLoS neglected tropical diseases 2015 12 0. (12) e0004316.
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