Published on 06/08/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Why study rare genetic conditions?
N Rahman, TGMI blog post, June 2, 2017 -
Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.
Kutscher Eric J et al. Pediatric neurology 2017 Apr -
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan Muzammil Ahmad et al. Annals of human genetics 2016 Nov 80(6) 342-368 -
Advancing Treatment and Care for Fragile X Syndrome
Cancer
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Distinct implications of different BRCA mutations: efficacy of cytotoxic chemotherapy, PARP inhibition and clinical outcome in ovarian cancer.
Hollis Robert L et al. OncoTargets and therapy 2017 102539-2551 -
Epidermal growth factor receptor and anaplastic lymphoma kinase testing and mutation prevalence in patients with advanced non-small cell lung cancer in Switzerland: A comprehensive evaluation of real world practices.
Ess S M et al. European journal of cancer care 2017 May -
Improving Health and Quality of Life After Cancer
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PARP inhibitors in ovarian cancer: evidence, experience and clinical potential.
Evans Tarra et al. Therapeutic advances in medical oncology 2017 Apr 9(4) 253-267 -
Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review.
Ayatollahi Hossein et al. Hematology/oncology and stem cell therapy 2017 Mar 10(1) 1-7 -
Poly(adenosine diphosphate-ribose) polymerase as therapeutic target: lessons learned from its inhibitors.
Cseh Anna Mária et al. Oncotarget 2017 Apr -
Precision or imprecision medicine?
Hutchinson Lisa, et al. Nature reviews. Clinical oncology 2016 0 0. (12) 713 -
Could a Blood Test Detect Early-Stage Cancers?
M Tontonoz, ASCO, June 2017 -
New Drug Shows Durable Efficacy Across Diverse Pediatric and Adult Cancers-Larotrectinib Targets Rare Genetic Abnormality, TRK Fusions
ASCO, June 3, 2017 -
Office of Cancer Survivorship
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Phase III Trial of PARP Inhibitor Shows First Evidence of Improved Outcomes in Breast Cancer
Memorial Sloan Kettering, ASCO, June 4, 2017 -
'Liquid Biopsy Passes Early Test in Quest to Find Cancer in Blood
Fortune, June 3, 2017 -
How and When to Implement Precision Oncology
How and When to Implement Precision Oncology
How and when to implement precision oncology
LD Nadauld et al, ASCO 2017 annual meeting -
Game of chance: Are most cancers linked to nothing more than bad luck?
M Knight, June 1, 2017, Genetic Literacy Project -
Childhood Cancer Genomics (PDQ®) Health Professional Version
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Clinical utility of gene-expression signatures in early stage breast cancer.
Kwa Maryann et al. Nature reviews. Clinical oncology 2017 May -
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
Finkelman Brian S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 Apr 30(12) 1321-8 -
Identification of Genomic Somatic Variants in Cancer: From Discovery to Actionability.
Fawcett G L et al. Advances in clinical chemistry 78123-162 -
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31 -
Prognostic impact of epigenetic classification in chronic lymphocytic leukemia: The case of subset #2.
Bhoi Sujata et al. Epigenetics 2016 Jun 11(6) 449-55 -
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.
Li Wenhui L et al. The Journal of molecular diagnostics : JMD 2016 Jul 18(4) 480-93 -
Detection of Colorectal Cancer Using a Simplified SEPT9 Gene Methylation Assay Is a Reliable Method for Opportunistic Screening.
Wu Dong et al. The Journal of molecular diagnostics : JMD 2016 Jul 18(4) 535-45 -
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.
Villani Anita et al. The Lancet. Oncology 2016 Sep 17(9) 1295-305 -
CONNECT registry shows only 9 percent compliance with genetic testing guidelines for AML
Science Mag, June 5, 2017 -
Routine genomic testing is feasible, but only a subset of patients benefit
Science Mag, June 5, 2017 -
Routine Genomic Testing in Cancer Patients May Be Feasible
Cancer Network, ASCO, June 3, 2017
Chronic Disease
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Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case-control study protocol for dimethyl fumarate-induced lymphopenia.
Kowalec Kaarina et al. BMJ open 2017 Jun 7(5) e016276 -
The Genetic Diagnosis of Interstitial Lung Disease: A Need for an International Consensus.
Borie Raphael et al. American journal of respiratory and critical care medicine 2017 Jun 195(11) 1538-1539 -
Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels.
Klein Christopher J et al. Mayo Clinic proceedings 2017 Feb 92(2) 292-305 -
Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.
Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 Jun 1-11 -
Gene-Diet Interactions in Type 2 Diabetes: The Chicken and Egg Debate.
Ortega Ángeles et al. International journal of molecular sciences 2017 Jun 18(6)
Practice
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A Proposed Genomic Literacy, Education, and Engagement (GLEE) Initiative
NHGRI, June 6, 2017 -
Data Sharing Statements for Clinical Trials: A Requirement of the International Committee of Medical Journal Editors.
Taichman Darren B et al. JAMA 2017 Jun -
Beta Testing Begins for NIHs All of Us Research Program
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Personalized medicine in Europe: not yet personal enough?
Di Paolo Antonello et al. BMC health services research 2017 Apr 17(1) 289 -
The effect of the apolipoprotein E genotype on response to personalized dietary advice intervention: findings from the Food4Me randomized controlled trial.
Fallaize Rosalind et al. The American journal of clinical nutrition 2016 Sep 104(3) 827-36 -
Do It Youself Genetic Tests Create Challenge For Doctors,
CBS SF Bay Area, June 4, 2017 -
Are there any shortcuts on the translation highway to genomic medicine?
MJ Khoury, CDC Blog Post, June 1, 2017 -
Strength in Numbers: genetic sequencing of large populations is shaping the future of medicine
RL Collins, Harvard School of Arts and Sciences, June 5, 2017
Heart, Lung, Blood and Sleep Diseases
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Thrombophilia Testing in Provoked Venous Thromboembolism: A Teachable Moment.
Gupta Arjun et al. JAMA internal medicine 2017 Jun -
Family history of high blood pressure focuses trainers mission on heart health
American Heart Association News, May 31, 2017 -
Assessment of the clinical utility of adding common single nucleotide polymorphism genetic scores to classical risk factor algorithms in coronary heart disease risk prediction in UK men.
Beaney Katherine E et al. Clinical chemistry and laboratory medicine 2017 Jun -
Precision Cardiovascular Medicine: State of Genetic Testing.
Giudicessi John R et al. Mayo Clinic proceedings 2017 Apr 92(4) 642-662 -
Thrombophilia testing results in patients with a first venous thromboembolic event: should the selection criteria for testing be revisited?
Hirmerova Jana et al. International angiology : a journal of the International Union of Angiology 2017 Apr 36(2) 167-173
Pharmacogenomics
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The genetic basis of antiplatelet and anticoagulant therapy: A pharmacogenetic review of newer antiplatelets (clopidogrel, prasugrel and ticagrelor) and anticoagulants (dabigatran, rivaroxaban, apixaban and edoxaban).
O'Connor Cormac T et al. Expert opinion on drug metabolism & toxicology 2017 Jun
Reproductive Health
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Multi-omics and male infertility: status, integration and future prospects.
Sinha Ashima et al. Frontiers in bioscience (Scholar edition) 2017 Jun 9375-394 -
Initiative for standardization of reporting genetics of male infertility.
Traven Eva et al. Systems biology in reproductive medicine 2017 Feb 63(1) 58-66 -
Genetic Carrier Screening in the Twenty-first Century.
Yao Ruofan et al. Clinics in laboratory medicine 2016 Jun 36(2) 277-88 -
Preimplantation genetic diagnosis: a national multicenter obstetric and neonatal follow-up study.
Bay Bjorn et al. Fertility and sterility 2016 Nov 106(6) 1363-1369.e1 -
Current status of non-invasive prenatal testing in Japan.
Samura Osamu et al. The journal of obstetrics and gynaecology research 2017 Jun -
Genomics: Tool to predict and prevent male infertility.
Halder Ashutosh et al. Frontiers in bioscience (Scholar edition) 2017 Jun 9448-508 -
Infertility FAQs Frequently Asked Questions
Certain genetic conditions can cause infertility in men