Published on 07/20/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genome therapy could lead to new treatment for life-threatening blood disorders
Science Mag, July 17, 2017 -
New Vertex drugs show dramatic gains for tough-to-treat cystic fibrosis patients
A Feuerstein, StatNews, July 18, 2017 -
Emicizumab Prophylaxis in Hemophilia A with Inhibitors.
Oldenburg Johannes et al. The New England journal of medicine 2017 Jul -
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
Chérot E et al. Clinical genetics 2017 Jul -
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families.
Hartley Taila et al. Clinical genetics 2017 Jul -
Gene changes may increase risk of Tourette syndrome
NIH Research Matters, July 2017
Cancer
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Analysis of molecular subtypes for the increased HER2 equivocal cases caused by application of the updated 2013 ASCO/CAP HER2 testing guidelines in breast cancer.
Guo Lei et al. Breast cancer research and treatment 2017 Jul -
Clinical utility of a blood-based protein assay to increase screening of elevated-risk patients for colorectal cancer in the primary care setting.
Peabody John et al. Journal of cancer research and clinical oncology 2017 Jul -
Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer.
Gamble Charlotte et al. Annals of surgical oncology 2017 Jul -
Comparison of Oncotype DX® Recurrence Score® with other risk assessment tools including the Nottingham Prognostic Index in the identification of patients with low-risk invasive breast cancer.
Cotter Maura Bríd et al. Virchows Archiv : an international journal of pathology 2017 Jul -
F.D.A. Panel Recommends Approval for Gene-Altering Leukemia Treatment
By Denise Grady, The New York Times, July 12, 2017 -
Two-Drug Combination Approved for Lung Cancers with BRAF Mutations
NCI, July 18, 2017 -
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
Hahnen Eric et al. JAMA oncology 2017 Jul -
Outsmarting Colon Cancer
J Erdmann, Genome Magazine, Summer 2017 -
Australian recommendations for EGFR T790M testing in advanced non-small cell lung cancer.
John Thomas et al. Asia-Pacific journal of clinical oncology 2017 Jul -
Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry.
Manchanda Ranjit et al. American journal of obstetrics and gynecology 2017 Jul -
Outcome of HER2 Testing by FISH applying ASCO/CAP 2007 and 2013 guideline in IHC equivocal group of breast cancer: Experience at tertiary cancer care centre.
Panigrahi Manoj Kumar et al. South Asian journal of cancer 6(2) 45-46 -
Utilization of colonoscopy and colonoscopic findings among individuals aged 40-54 years with a positive family history of colorectal cancer: a cross-sectional study in general practice.
Plath Jasper et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2017 Jul -
CancerGD: A Resource for Identifying and Interpreting Genetic Dependencies in Cancer.
Bridgett Stephen et al. Cell systems 2017 Jul -
[Clinical utility of real-time fluorescent PCR for combined detection of anaplastic lymphoma kinase and c-ros oncogene 1 receptor tyrosine kinase in non-small cell lung cancer].
Bai D Y et al. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2016 Dec 38(12) 898-903 -
Prostate Cancer Screening in a New Era of Genetics.
Cheng Heather H et al. Clinical genitourinary cancer 2017 May -
Take Action to Lower Your Breast and Ovarian Cancer Risk.
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Draft Recommendation Statement: Ovarian Cancer Screening
US Preventive Services Task Force, July 2017 -
Prognostic role of methylated GSTP1, p16, ESR1 and PITX2 in patients with breast cancer: A systematic meta-analysis under the guideline of PRISMA.
Sheng Xianneng et al. Medicine 2017 Jul 96(28) e7476 -
Clinical Application of Targeted Deep Sequencing in Solid-Cancer Patients; Utility of Targeted Deep Sequencing for Biomarker-Selected Clinical Trial.
Kim Seung Tae et al. The oncologist 2017 Jul -
Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline Focused Update.
Krop Ian et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jul JCO2017740472 -
Genetic Biomarker Prevalence Is Similar in Fecal Immunochemical Test Positive and Negative Colorectal Cancer Tissue.
Levin Theodore R et al. Digestive diseases and sciences 2017 Mar 62(3) 678-688 -
Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
Nallamilli Babi Ramesh Reddy et al. Current protocols in human genetics 2017 Jul 9410.12.1-10.12.23 -
The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing.
Ryan E et al. Critical reviews in oncology/hematology 2017 Aug 11638-57 -
Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.
Wevers Marijke R et al. Journal of surgical oncology 2017 Jul
Chronic Disease
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Genetics of obesity.
Campbell Am Lesley V et al. Australian family physician 2017 46(7) 456-459 -
COPD National Action Plan
NHLBI, 2017 -
National Diabetes Statistics Report
CDC, July 2017 -
Obesity and microbiota: an example of an intricate relationship.
Duranti Sabrina et al. Genes & nutrition 2017 1218 -
Cost and yield considerations when expanding recruitment for genetic studies: the primary open-angle African American glaucoma genetics study.
Salowe Rebecca et al. BMC medical research methodology 2017 Jul 17(1) 101 -
The effect of CYP3A5 genetic polymorphisms on adverse events in patients with ulcerative colitis treated with tacrolimus.
Asada Ayumi et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2017 Jan 49(1) 24-28
Ethics/Policy/Law
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Big data's big bias: bringing noise and conflicts to US drug regulation.
Lenzer Jeanne et al. BMJ (Clinical research ed.) 2017 Jul 358j3275 -
A new era in the interpretation of human genomic variation
Science Mag, July 17, 2017 -
Sharing Clinical Research Data-Finding the Right Balance.
Lo Bernard et al. JAMA internal medicine 2017 Jul -
Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing.
Horn Ruth et al. Prenatal diagnosis 2017 Jul -
Direct-to-Consumer Genetic Testing and Orphan Drug Development.
Mason Matthew et al. Genetic testing and molecular biomarkers 2017 Jul
Practice
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Finding the Rare Pathogenic Variants in a Human Genome.
Evans James P et al. JAMA 2017 317(18) 1904-1905 -
Communication of Information about Genetic Risks: Putting Families at the Center.
Mendes Álvaro et al. Family process 2017 Jul -
An Evidence Framework for Genetic Testing.
Terry Sharon F et al. Genetic testing and molecular biomarkers 2017 Jul 21(7) 407-408 -
f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.
Tokutomi Tomoharu et al. BMC medical genetics 2017 Jul 18(1) 71 -
'Scientific wellness studyand a famed biologists spinoff companydivide researchers
R Cross, Science, July 19, 2017 -
Public genomes: the future of the NHS?
The Lancet, et al. Lancet (London, England) 2017 0 0. (10091) 203 -
Scientists Are Fed Up with Absurd Genetic Tests
M Humphrey, Frontline Genomics, July 17, 2017 -
What to know about DNA testing kits
K Nichols, ABC News, July 13, 2017 -
A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.
Laurino Mercy Y et al. Journal of genetic counseling 2017 Jul -
Transparency of genetic testing services for 'health, wellness and lifestyle': analysis of online prepurchase information for UK consumers.
Hall Jacqueline A et al. European journal of human genetics : EJHG 2017 Aug 25(8) 908-917 -
Scientists Push Back Against Booming Genetic Pseudoscience Market
KV Brown, Gizmodo, July 14, 2017 -
Integrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health
MJ Khoury, blog post, July 19, 2017 -
Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.
Zhong Adrina et al. Systematic reviews 2017 Jul 6(1) 140
Heart, Lung, Blood and Sleep Diseases
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The Cost-effectiveness of Genetic Screening for Familial Hypercholesterolemia: a Systematic Review.
Rosso A et al. Annali di igiene : medicina preventiva e di comunita 29(5) 464-480 -
Is ANGPTL3 a Target to Reduce Cardiovascular Risk?
NEJM video, July 18, 2017, -
Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy.
Christian Susan et al. Journal of genetic counseling 2017 Jul -
Biomarkers of stroke recovery: Consensus-based core recommendations from the Stroke Recovery and Rehabilitation Roundtable.
Boyd Lara A et al. International journal of stroke : official journal of the International Stroke Society 2017 Jul 12(5) 480-493
Newborn Screening
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Baby Genome Sequencing for Sale in China
A Regalado, MIT Review, June, 2017 -
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.
Chien Yin-Hsiu et al. The Journal of pediatrics 2017 Jul -
Idiopathic T cell lymphopenia identified in New York State Newborn Screening.
Albin-Leeds Stephanie et al. Clinical immunology (Orlando, Fla.) 2017 Jul
Pharmacogenomics
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Road to Recovery: New personalized treatments and technologies are helping people free themselves from opioid addiction.
Genome Magazine, Summer 2017 -
A cost-effectiveness analysis of maternal CYP2D6 genetic testing to guide treatment for postpartum pain and avert infant adverse events.
Moretti M E et al. The pharmacogenomics journal 2017 Jul -
Pharmacogenomics Implementation: Considerations for Selecting a Reference Laboratory.
Vo Teresa T et al. Pharmacotherapy 2017 Jul
Reproductive Health
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Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening Panel.
Stevens Blair et al. Obstetrics and gynecology 2017 Jul -
Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant Microdeletions.
Martin Kimberly et al. Clinical genetics 2017 Jul -
Direct-to-consumer DNA testing: the fallout for individuals and their families unexpectedly learning of their donor conception origins.
Crawshaw Marilyn et al. Human fertility (Cambridge, England) 2017 Jul 1-4 -
Patients' Knowledge of Prenatal Screening for Trisomy 21.
Sheinis Michal et al. Journal of genetic counseling 2017 Jul -
The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.
Boardman Felicity K et al. Health expectations : an international journal of public participation in health care and health policy 2017 Jul
Funding
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Ethical, Legal, and Social Implications (ELSI) of Genomics Research Project Grant Program (R01),
NIH, July 10, 2017 -
NIH to Fund Studies Examining Implications of Genome Research,
Genome Web, July 17, 2017 -
Ethical, Legal, and Social Implications (ELSI) of Genomics Exploratory/Developmental Research Grant Program (R21),
NIH, July 10, 2017 -
Ethical, Legal, and Social Implications (ELSI) of Genomics Small Research Grant Program (R03),
NIH, July 10, 2017