Publication Date: Aug 23, 2018
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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.
Blencowe Hannah et al. Journal of community genetics 2018 Aug - SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
López-Martín Estrella et al. International journal of environmental research and public health 2018 Aug 15(8) - What to say to a parent who requests genetic testing
AMA Wire, August 17, 2018 - Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics
ACMG, Genetics in Medicine, August 22, 2018 - Parent-child communication and timing of interventions are challenges in the Duchenne muscular dystrophy care.
Saetrang T et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Aug - Researchers find potential new gene therapy for blinding disease
NIH News, August 20, 2018 - Discoveries on the Genetics of ADHD in the 21st Century: New Findings and Their Implications.
Thapar Anita et al. The American journal of psychiatry 2018 Aug appiajp201818040383 - Pompe Disease: From Basic Science to Therapy.
Kohler Lara et al. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2018 Aug - Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak Christopher Cy et al. NPJ genomic medicine 2018 319 - A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu Kandai et al. Clinical and experimental nephrology 2018 Aug
Cancer
- p53 activation: a checkpoint for precision genome editing?
Conti Anastasia et al. Genome medicine 2018 Aug 10(1) 66 - Genetic Testing for Breast Cancer in the Era of Multigene Panels: Can We Make an Impact on Population Health?
Ginsburg Ophira et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Aug JCO2018793307 - Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.
Goudie Catherine et al. Pediatric blood & cancer 2018 Aug e27390 - Convolutional Neural Network Using a Breast MRI Tumor Dataset Can Predict Oncotype Dx Recurrence Score.
Ha Richard et al. Journal of magnetic resonance imaging : JMRI 2018 Aug - Targeted molecular analysis in adrenocortical carcinomas: a strategy towards improved personalized prognostication.
Lippert Juliane et al. The Journal of clinical endocrinology and metabolism 2018 Aug - Systematic Review: An Update on the Spectrum of Urological Malignancies in Lynch Syndrome.
Huang Dora et al. Bladder cancer (Amsterdam, Netherlands) 2018 Jul 4(3) 261-268 - Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma.
Freifeld Yuval et al. Current urology reports 2018 Aug 19(10) 82 - MicroRNAs as non-invasive diagnostic biomarkers for gastric cancer: Current insights and future perspectives.
Link Alexander et al. World journal of gastroenterology 2018 Aug 24(30) 3313-3329 - Assessing the Impact of Circulating Tumor DNA (ctDNA) in Patients With Colorectal Cancer: Separating Fact From Fiction.
Gabriel Emmanuel et al. Frontiers in oncology 2018 8297 - Lynch Syndrome-Associated Colorectal Cancer.
Sinicrope Frank A et al. The New England journal of medicine 2018 Aug 379(8) 764-773 - Inherited Breast Cancer in Nigerian Women.
Zheng Yonglan et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Aug JCO2018783977 - Multilevel Influences on Patient-Oncologist Communication about Genomic Test Results: Oncologist Perspectives.
O'Neill Suzanne C et al. Journal of health communication 2018 Aug 1-8 - Genetic Testing for Cancer Lacking for Women on Medicare: Study
Health Day, August 17, 2018 - Molecular predictors of prevention of recurrence in HCC with sorafenib as adjuvant treatment and prognostic factors in the phase 3 STORM trial.
Pinyol Roser et al. Gut 2018 Aug - Next-generation sequencing based post-transplant monitoring of acute myeloid leukemia.
Kim TaeHyung et al. Blood 2018 Aug - Adherence to guidelines in requesting Oncotype DX in a publicly funded health care system.
Martel S et al. Current oncology (Toronto, Ont.) 2018 Aug 25(4) e311-e318 - Immunotherapy for Melanoma Metastatic to the Brain.
Turajlic Samra et al. The New England journal of medicine 2018 Aug 379(8) 789-790 - Family history-based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios.
Dillon Mary et al. PLoS medicine 2018 Aug 15(8) e1002630 - Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.
Muller Charles et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2018 Aug - Performance of tumor testing for Lynch syndrome identification in patients with colorectal cancer: A retrospective single-center study.
Signoroni Stefano et al. Tumori 2018 Aug 300891618792460 - Cancer precision medicine today: Towards omic information in healthcare systems.
Maggi Norbert et al. Tumori 2018 Aug 300891618792473 - Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.
Al-Sharefi Ahmed et al. Endocrine connections 2018 Aug - Redefining the Value Proposition of Precision Oncology: Can We Integrate Genomic Testing Without Overselling It?
West Howard Jack et al. JAMA oncology 2018 Aug - Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.
Greville-Heygate Stephanie L et al. JAMA oncology 2018 Aug - Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu Hsiao-Mei et al. JAMA oncology 2018 Aug - The prevalence of Lynch syndrome in women with endometrial cancer: a systematic review protocol.
Ryan Neil A J et al. Systematic reviews 2018 Aug 7(1) 121 - Immunohistochemical and selected genetic reflex testing of all uterine leiomyosarcomas and STUMPs for ALK gene rearrangement may provide an effective screening tool in identifying uterine ALK-rearranged mesenchymal tumors.
Ptáková Nikola et al. Virchows Archiv : an international journal of pathology 2018 Aug - Clinical Practice Guideline on Screening for Colorectal Cancer in individuals with a Family History of Nonhereditary Colorectal Cancer or Adenoma: The Canadian Association of Gastroenterology Banff Consensus.
Leddin Desmond et al. Gastroenterology 2018 Aug - The Clinical Impact of Comprehensive Genomic Testing of Circulating Cell-Free DNA in Advanced Lung Cancer.
Laufer-Geva Smadar et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 Aug - Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
Bowles Karla R et al. Future oncology (London, England) 2018 Aug - What characterizes cancer family history collection tools? A critical literature review.
Cleophat J E et al. Current oncology (Toronto, Ont.) 2018 Aug 25(4) e335-e350 - Practical Consequences Resulting from the Analysis of a 21-Multigene Array in the Interdisciplinary Conference of a Breast Cancer Center.
Voelker Hans-Ullrich et al. International journal of breast cancer 2018 20182047089 - NCI-led research team develops predictor for immunotherapy response in melanoma
NCI, August 20, 2018 - Added Value of Whole-Exome and Transcriptome Sequencing for Clinical Molecular Screenings of Advanced Cancer Patients With Solid Tumors.
Koeppel Florence et al. Cancer journal (Sudbury, Mass.) 24(4) 153-162 - Immunotherapy Drugs Slow Skin Cancer That Has Spread to the Brain
D Grady, NY Times, August 22, 2018 - Consensus on BCR-ABL1 reporting in chronic myeloid leukaemia in the UK.
Cross Nicholas C P et al. British journal of haematology 2018 Aug - Triple-Negative Breast Cancers: Systematic Review of the Literature on Molecular and Clinical Features with a Focus on Treatment with Innovative Drugs.
Diana Anna et al. Current oncology reports 2018 Aug 20(10) 76 - Oncology Nurses' Knowledge of Pharmacogenomics Before and After Implementation of an Education Module.
Dodson Crystal et al. Oncology nursing forum 2018 Sep 45(5) 575-580
Chronic Disease
- Proteomics for blood biomarker exploration of severe mental illness: pitfalls of the past and potential for the future.
Comes Ashley L et al. Translational psychiatry 2018 Aug 8(1) 160 - Finding useful biomarkers for Parkinson's disease.
Chen-Plotkin Alice S et al. Science translational medicine 2018 Aug 10(454) - Can Learning Genomic Risk Really Affect Behavior?
T Haelle, Medscape, August 2018 - Commentary: The Invention of Aboriginal Diabetes: The Role of the Thrifty Gene Hypothesis in Canadian Health Care Provision.
Hay Travis et al. Ethnicity & disease 2018 28(Suppl 1) 247-252 - Hsa_Circ_0001275: A Potential Novel Diagnostic Biomarker for Postmenopausal Osteoporosis.
Zhao Kewei et al. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018 46(6) 2508-2516 - Could future gene therapy prevent aging diseases?
R Oliynyk, BioRXIv, August 17, 2018 - A Molecular Reason Why Obese People Have Trouble Losing Weight
B Stetka, Scientific American, August 23, 2018 - Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study.
Erlangsen Annette et al. Molecular psychiatry 2018 Aug - Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.
Long Jeffrey D et al. American journal of human genetics 2018 Aug
Ethical, Legal and Social Issues (ELSI)
- Genomic data sharing: the Australian context.
Eckstein Lisa et al. Human genetics 2018 Aug - The promise and peril of genetic testing and personalized medicine,
MPR News, August 16, 2018 - Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.
Robertson Stephen P et al. The New Zealand medical journal 2018 Aug 131(1480) 81-89 - Precision medicine and sharing medical data in real time: opportunities and barriers.
Yang Y Tony et al. The American journal of managed care 2018 Aug 24(8) 356-358 - Reuniting Families Using Genetic Testing?
Oliphant Erin N et al. Genetic testing and molecular biomarkers 2018 Aug 22(8) 453-455 - The ethics conundrum in Recall by Genotype (RbG) research: Perspectives from birth cohort participants.
Minion Joel T et al. PloS one 2018 13(8) e0202502 - Orphan Cancer Drugs in the Era of Precision Medicine
C Nabhan et al, JAMA Oncology, August 23, 2018 - Ethical considerations for modern molecular pathology.
Vos Shoko et al. The Journal of pathology 2018 Aug
General Practice
- Why Do Polygenic Risk Scores Get So Much Hype? GWAS for Common Disease Variants Gains Prominence
J Lemieux, GEN, August 22, 2018 - Consumer genomics will change your life, whether you get tested or not.
Khan Razib et al. Genome biology 2018 Aug 19(1) 120 - Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp Julie C et al. American journal of human genetics 2018 Aug - Undergraduate Student Perceptions and Awareness of Genetic Counseling.
Gerard Amanda et al. Journal of genetic counseling 2018 Aug - Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study.
Vornanen M et al. Journal of genetic counseling 2018 Aug - No more excuses for non-reproducible methods
L Teytelman, Nature, Aguts 22, 2018 - A toolkit for data transparency takes shape.
Perkel Jeffrey M et al. Nature 2018 Aug 560(7719) 513-515 - How scientists are trying to predict your future with your genes- But what are the limits? Genome-wide association studies, explained.
B Resnick et al, VOX, August 23, 2018 - Rise of Deep Learning for Genomic, Proteomic, and Metabolomic Data Integration in Precision Medicine.
Grapov Dmitry et al. Omics : a journal of integrative biology 2018 Aug
Heart, Lung, Blood and Sleep Diseases
- Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals
VD Myers, et al. JAMA Cardiology, August 22, 2018 - Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.
Wang Xu et al. Journal of geriatric cardiology : JGC 2018 Jun 15(6) 434-440 - All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation.
Helm Benjamin M et al. Journal of genetic counseling 2018 Aug - Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center.
Wurtmann Elisabeth et al. Journal of genetic counseling 2018 Aug - Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands.
Blusztein David I et al. Heart, lung & circulation 2018 Aug - Disclosure of diagnosis to at-risk relatives by individuals diagnosed with hypertrophic cardiomyopathy (HCM).
Hudson Janella et al. Journal of community genetics 2018 Aug - How do the experiences and beliefs of adults and children with heterozygous familial hypercholesterolaemia influence their adherence to treatment? A systematic review of qualitative evidence protocol.
Kinnear Fiona J et al. Systematic reviews 2018 Aug 7(1) 120 - Implementation of the NCAA Sickle Cell Trait Screening Policy: A Survey of Athletic Staff and Student-athletes.
Baker Charlotte et al. Journal of the National Medical Association 2018 Apr - FH 2018 Global Summit, October 1-2, 2018
The FH Foundation, 2018 - Sickle Cell in Focus Conference October 22-23, 2018
NLBI, 2018 - Sickle Cell in Focus Conference October 22-23, 2018
NHLBI, 2018 - Genetic testing pushed for hereditary high cholesterol disease,
by Tracie White, Scope Blog, August 14, 2018 - Familial Hypercholesterolemia: Shining Light on a Serious Genetic Condition,
by Katherine Wilemon, Health US News, August 7, 2018 - Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.
Asatryan Babken et al. Journal of molecular medicine (Berlin, Germany) 2018 Aug - Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia.
Sachdeva Anupam et al. Indian pediatrics 2018 Jul 55(7) 582-590
Newborn Screening
- Should All Babies Have Their Genomes Sequenced? Hastings Center Report, Co-edited by UCSF Bioethicist, Outlines Ethics and Policy Recommendations on Genome-wide Sequencing of Newborns
L Kurtzman, UCSF, August 16, 2018 - The Ethics of Sequencing Newborns: Reflections and Recommendations
Hastings Center Report, August 2018 - Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants.
Güran Tülay et al. Journal of clinical research in pediatric endocrinology 2018 Aug - Newborn screening in the developing countries.
Therrell Bradford L et al. Current opinion in pediatrics 2018 Aug - Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.
Prosser Lisa A et al. MDM policy & practice 2018 2018
Pharmacogenomics
- A precision medicine approach to pharmacological adjuncts to extinction: a call to broaden research.
King Gabrielle et al. Psychopharmacology 2018 Aug - Advancing precision medicine with personalized drug screening.
Gorshkov Kirill et al. Drug discovery today 2018 Aug - Platelet Function or Genetic Testing for Guiding De-Escalation of Anti-Platelet Therapy: The Jury is Still Out.
Angiolillo Dominick J et al. Thrombosis and haemostasis 2018 Aug - Personalized medicine in non-small cell lung cancer: a review from a pharmacogenomics perspective.
Jiang Wenxiao et al. Acta pharmaceutica Sinica. B 2018 Jul 8(4) 530-538
Reproductive Health
- Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy?
Kimelman Dana et al. Journal of assisted reproduction and genetics 2018 Aug - What are the required components of pre- and post-test counseling?
Rink Britton D et al. Seminars in perinatology 2018 Jul - Introducing new and emerging genetic tests into prenatal care.
Vora Neeta L et al. Seminars in perinatology 2018 Jul - Newest form of CRISPR corrects genetic disease in viable human embryos, with few errors
S Begley, Stat News, August 20, 2018 - Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.
Malan Valérie et al. JAMA 2018 Aug 320(6) 557-565 - Not all chromosome aberrations can be detected by NIPT in women at advanced maternal age: A multicenter retrospective study.
Chen Ying-Ping et al. Clinica chimica acta; international journal of clinical chemistry 2018 Aug 486232-236 - A cost-effectiveness analysis comparing two different strategies in advanced maternal age: Combined first-trimester screening and maternal blood cell-free DNA testing.
Pan Min et al. Taiwanese journal of obstetrics & gynecology 2018 Aug 57(4) 536-540 - Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population.
Kostenko Emilia et al. Fetal diagnosis and therapy 2018 Aug 1-11
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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