Published on 08/17/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Neurofibromatosis type 1.
Gutmann David H et al. Nature reviews. Disease primers 2017 Feb 317004 -
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
Pathmanaban Omar N et al. JAMA neurology 2017 Jul -
Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder.
Hoang Ny et al. Patient education and counseling 2017 Jul -
Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis.
Ko Younhee et al. Journal of dermatological science 2017 Jul -
Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.
Lewis Megan A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug -
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel Anath C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug -
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy.
Peay Holly L et al. Journal of genetic counseling 2017 Aug -
Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
Austin Christopher P et al. Clinical and translational science 2017 Aug -
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.
Seleman Michael et al. Frontiers in immunology 2017 8847 -
Parents' Reactions to the Diagnosis of Duchenne Muscular Dystrophy: Associations Between Resolution, Family Functioning, and Child Behavior Problems.
Baiocco Roberto et al. The journal of nursing research : JNR 2017 Aug -
Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis.
Algiraigri Ali H et al. International journal of hematology 2017 Aug -
Thalassaemia.
Taher Ali T et al. Lancet (London, England) 2017 Jul -
Management of iron overload in hemoglobinopathies.
Allali S et al. Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2017 Jun -
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky Jeffrey M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug -
Doctors Plan Bold Test of Gene Therapy on Boys with Muscular Dystrophy
A Regalado, MIT Tech Review, August 17, 2017 -
Settling the score: variant prioritization and Mendelian disease
Eilbeck Karen et al. Nature reviews. Genetics 2017 Aug
Cancer
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Skin Cancer Prevention Progress Report
CDC, August 2017 -
Accuracy of the online prognostication tools PREDICT and Adjuvant! for early-stage breast cancer patients younger than 50 years.
Engelhardt Ellen G et al. European journal of cancer (Oxford, England : 1990) 2017 Jun 7837-44 -
FDAs First Site-Agnostic Drug Approval Marks a Paradigm Shift in Regulatory Criteria
J Cavallo, ASCO Post, August 10, 2017 -
'Liquid biopsy' spots early-stage cancers in blood: U.S. study
Reuter's Health, August 16, 2017 -
The Role of Genetic Testing in Ovarian Cancer
D Bucco, Cure today, August 8, 2017 -
Noninvasive detection for early stage cancers from circulating DNA
ecancer, August 16, 2017 -
Systemic Therapy for Stage IV Non-Small-Cell Lung Cancer: American Society of Clinical Oncology Clinical Practice Guideline Update.
Hanna Nasser et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Aug JCO2017746065 -
Cancer Counseling of Low-Income Limited English Proficient Latina Women Using Medical Interpreters: Implications for Shared Decision-Making.
Kamara Daniella et al. Journal of genetic counseling 2017 Aug -
Economic analysis of ALK testing and crizotinib therapy for advanced non-small-cell lung cancer.
Lu Shun et al. Pharmacogenomics 2016 Jun 17(9) 985-94 -
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi Hiroyuki et al. World journal of gastroenterology 2017 Feb 23(6) 935-948 -
[Entitlement to prophylactic treatment in cases of genetic predisposition for breast cancer : Interdisciplinary perspectives].
Meier Friedhelm et al. Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2017 Aug -
Universal Point-of-Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma.
Metcalfe Michael J et al. The Journal of urology 2017 Aug -
Diagnostic value of targeted next-generation sequencing in patients with suspected pancreatic or periampullary cancer.
Mulder Babs G Sibinga et al. Journal of clinical pathology 2017 Aug -
Preoperative Panel Testing for Hereditary Cancer Syndromes Does Not Significantly Impact Time to Surgery for Newly Diagnosed Breast Cancer Patients Compared with BRCA1/2 Testing.
Murphy Amy E et al. Annals of surgical oncology 2017 Aug -
A Cancer Conundrum: Too Many Drug Trials, Too Few Patients
G Kolata, New York Times, August 13, 2017 -
Evolving Cancer Classification in the Era of Personalized Medicine: A Primer for Radiologists.
O'Neill Ailbhe C et al. Korean journal of radiology 18(1) 6-17 -
Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care.
Senter Leigha et al. Gynecologic oncology 2017 Aug -
When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges.
Speight Beverley et al. Journal of genetic counseling 2017 Aug -
Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis.
Yadav Siddhartha et al. Hereditary cancer in clinical practice 2017 1511 -
Prospective Clinical Integration of an Amplicon-Based Next-Generation Sequencing Method to Select Advanced Non-Small-Cell Lung Cancer Patients for Genotype-Tailored Treatments.
Zugazagoitia Jon et al. Clinical lung cancer 2017 Jun -
Blood biopsy reveals unique, targetable genetic alterations in patients with rare cancer
Science Mag, August 16, 2017
Chronic Disease
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Osteoarthritis year in review 2016: genetics, genomics and epigenetics.
van Meurs J B J et al. Osteoarthritis and cartilage 2017 Feb 25(2) 181-189 -
How a genetic test for Huntingtons disease could change our plans for children
N Hectel, Wassau Daily Herald, August 15, 2017 -
Precision Medicine Aids Suicide Prevention Approaches
M Humphrey, Frontline Genomics, August 15, 2017 -
Precision medicine opens the door to scientific wellness preventive approaches to suicide
Science Mag, August 15, 2017 -
Preventing Suicide
Risk factors include family history of suicide -
The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping.
Eyre Stephen et al. Nature reviews. Rheumatology 2017 Jul 13(7) 421-432 -
Ethical Application of Precision Medicine to Schizophrenia Management.
Daws Steven et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Jul 23(2) 147-153 -
Genes can push you toward obesity, but there are things you can do to prevent that
M Cimons, Washington Post, August 13, 2017 -
Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies.
da Fonseca Ana Carolina Proença et al. Journal of diabetes and its complications 2017 Jun
Ethics/Policy/Law
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U.S. attitudes on human genome editing.
Scheufele Dietram A et al. Science (New York, N.Y.) 2017 Aug 357(6351) 553-554 -
Biobanking in the subcontinent: exploring concerns.
Jafarey Aamir M et al. Indian journal of medical ethics 2017 Jul 1-7 -
Your DNA data may be vulnerable to hacking. Heres how
UL McFarling, StatNews, August 10, 2017 -
Americans divided on gene editing, with parents of minors more wary
C Funk, Pew Research, August 2017 -
Endogenous information, adverse selection, and prevention: Implications for genetic testing policy.
Peter Richard et al. Journal of health economics 2017 Jul -
Genome editing: science, ethics, and public engagement.
The Lancet, et al. Lancet (London, England) 2017 0 0. (10095) 625
Practice
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Working Up a Good Sweat - The Challenges of Standardising Sweat Collection for Metabolomics Analysis.
Hussain Joy N et al. The Clinical biochemist. Reviews 2017 Feb 38(1) 13-34 -
Consent Issues in Genetic Research: Views of Research Participants.
Goodman Deborah et al. Public health genomics 2016 19(4) 220-8 -
Science Says: DNA test results may not change health habits
M Ritter, Medical Xpress, August 17, 2017 -
Genomics Working Group of the All of Us Research Program Advisory Panel
NIH AllofUs Research Program, August 2017 -
After a decade of genome-wide association studies, a new phase of discovery pushes on
Broad Institute, August 2017 -
Retail genetics.
Harvey Ken et al. Australian prescriber 2017 Jun 40(3) 86-87 -
Do Public Involvement Activities in Biomedical Research and Innovation Recruit Representatively? A Systematic Qualitative Review.
Lander Jonas et al. Public health genomics 2016 19(4) 193-202 -
People Back Editing Genes To Treat Disease, But Are Wary Of Inheritable Changes
C Columbus, NPR, August 10, 2017 -
Public Health Impact of Genome-Wide Association Studies: Glass Half Full or Half Empty?
MJ Khoury, CDC Blog, 2013 -
Assessing attitudes about genetic testing as a component of continuing medical education.
Mrazek Michael et al. Academic psychiatry : the journal of the American Association of Directors of Psychiatric Residency Training and the Association for Academic Psychiatry 31(6) 447-51 -
Healthcare professionals' and patients' perspectives on consent to clinical genetic testing: moving towards a more relational approach.
Samuel Gabrielle Natalie et al. BMC medical ethics 2017 Aug 18(1) 47 -
Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study.
Taber Jennifer M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug -
Reporting practices for variants of uncertain significance from next generation sequencing technologies.
Vears Danya F et al. European journal of medical genetics 2017 Aug -
Population-based biobank participants' preferences for receiving genetic test results.
Yamamoto Kayono et al. Journal of human genetics 2017 Aug -
Human genomics projects and precision medicine.
Carrasco-Ramiro F et al. Gene therapy 2017 Aug -
Mutation matters in precision medicine: A future to believe in.
Dey Nandini et al. Cancer treatment reviews 2017 Apr 55136-149 -
Genomic Medicine Has Entered the Building
by Karyn Hede, Hospitals & Health Networks, August 15, 2017 -
Gene Editing Using CRISPR: Why the Excitement?
Komaroff Anthony L et al. JAMA 2017 Aug -
New frontiers in metabolomics: from measurement to insight.
Riekeberg Eli et al. F1000Research 2017 61148 -
What can genetic testing really tell you? Risk is not a diagnosis.
A Nathan, Popular Science, August 14, 2017
Heart, Lung, Blood and Sleep Diseases
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Recent developments and future directions for the use of pharmacogenomics in cardiovascular disease treatments.
Levy Andrew et al. Expert opinion on drug metabolism & toxicology 2017 Aug -
Incorporating Genetic Testing Into Cardiovascular Practice.
McNally Elizabeth M et al. JAMA cardiology 2017 Aug -
Contemporary Trends in the Management and Outcomes of Patients With Familial Hypercholesterolemia in Canada: A Prospective Observational Study.
Brunham Liam R et al. The Canadian journal of cardiology 2017 Mar 33(3) 385-392 -
Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.
Cirino Allison L et al. JAMA cardiology 2017 Aug -
The genetics of heart disease: An update
Harvard Heart Letter, September 2017 -
Charting Our Future Together: Turning Discovery Science Into Cardiovascular Health.
Gibbons Gary H, et al. Circulation 2017 0 0. (7) 615-617
Newborn Screening
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Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes.
Kerruish Nicola J et al. European journal of human genetics : EJHG 2017 Apr 25(4) 397-403 -
The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.
Macklin Sarah et al. Journal of genetic counseling 2017 Aug
Pharmacogenomics
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Do You Order Pharmacogenetic Testing? Why?
Goldberg Joseph F et al. The Journal of clinical psychiatry 2017 Aug -
Physicians' pharmacogenomics information needs and seeking behavior: a study with case vignettes.
Heale Bret S E et al. BMC medical informatics and decision making 2017 Aug 17(1) 113 -
A Critical Evaluation of Pharmacogenetic Information in Package Inserts for Selected Drugs Marketed in India and Its Comparison With US FDA-Approved Package Inserts.
Pai Sarayu Arvind et al. Journal of clinical pharmacology 2016 Oct 56(10) 1232-42 -
New Pharmacogenomics Research Network: An Open Community Catalyzing Research and Translation in Precision Medicine.
Relling M V et al. Clinical pharmacology and therapeutics 2017 Aug -
Genomic testing as a tool to optimise drug therapy.
Somogyi Andrew A et al. Australian prescriber 2017 Jun 40(3) 101-104
Reproductive Health
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Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.
Fan Chia Wei et al. Journal of genetic counseling 2017 Aug