Published on 08/23/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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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.
, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 0. -
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
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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 -
Patterns of epidermal growth factor receptor testing across 111 tertiary care centers in India: Result of a questionnaire-based survey.
Prabhash Kumar et al. South Asian journal of cancer 7(3) 203-206 -
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 -
Current understanding and clinical utility of miRNAs regulation of colon cancer stem cells.
De Robertis Mariangela et al. Seminars in cancer biology 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 -
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 -
PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.
Yokota Tomoya et al. BMC cancer 2018 Aug 18(1) 826 -
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 -
Current landscape and future directions of biomarkers for predicting responses to immune checkpoint inhibitors.
Zhu Yingming et al. Cancer management and research 2018 102475-2488 -
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 -
Plasma miRNAs in diagnosis and prognosis of pancreatic cancer: A miRNA expression analysis.
Zhou Xin et al. Gene 2018 Oct 673181-193
Chronic Disease
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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
Ethics/Policy/Law
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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 -
Ethical considerations for modern molecular pathology.
Vos Shoko et al. The Journal of pathology 2018 Aug
Practice
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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.
Teytelman Lenny, et al. Nature 2018 8 0. (7719) 411 -
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
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Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals.
Myers Valerie D, et al. JAMA cardiology 2018 8 0. -
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 -
Sickle Cell in Focus Conference October 22-23, 2018
NLBI, 2018 -
Genetic testing pushed for hereditary high cholesterol disease,
by Tracie White, Scope Blog, August 14, 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
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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
Pharmacogenomics
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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
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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