Published on 03/08/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Key Findings: Tourette Syndrome, Other Conditions, and School Measures
NCBDDD, Mar 2018 -
Back On Her Feet After Five Surgeries
Ivanhoe Broadcast News, Feb 2018 -
Progress in Genetic Studies of Tourette's Syndrome.
Qi Yanjie et al. Brain sciences 2017 Oct 7(10) -
Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study).
Talebizadeh Zohreh et al. The patient 2018 Mar -
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux Thierry et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug 19(8) 875-882 -
Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research.
Sundby Anna et al. Human genomics 2018 Mar 12(1) 12 -
ECFS best practice guidelines: the 2018 revision.
Castellani Carlo et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar
Cancer
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Jury out on liquid biopsies for cancer.
Ratner Mark, et al. Nature biotechnology 2018 3 0. (3) 209-210 -
FDA Approves Consumer BRCA Test, And We Take Another Step Into The Brave New World Of Genomics
American Cancer Society Blog, Mar 6, 2018 -
Landscapes of childhood tumours.
Bandopadhayay Pratiti, et al. Nature 2018 3 0. (7696) 316-317 -
Prevent Colorectal Cancer: We Can Do It!
CA Gelb, CDC blog post, Mar 1, 2018 -
Genetic profiling using plasma-derived cell-free DNA in therapy-naïve hepatocellular carcinoma patients: a pilot study.
Ng C K Y et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Mar -
Molecular markers and new diagnostic methods to differentiate malignant from benign mesothelial pleural proliferations: a literature review.
Bruno Rossella et al. Journal of thoracic disease 2018 Jan 10(Suppl 2) S342-S352 -
Analysis of a gene panel for targeted sequencing of colorectal cancer samples.
Jensen Klaus Højgaard et al. Oncotarget 2018 Feb 9(10) 9043-9060 -
Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients.
Tecza Karolina et al. Oncotarget 2018 Feb 9(10) 9114-9136 -
Standardizing biomarker testing for Canadian patients with advanced lung cancer.
Melosky B et al. Current oncology (Toronto, Ont.) 2018 Feb 25(1) 73-82 -
Inherited DNA-Repair Defects in Colorectal Cancer.
AlDubayan Saud H et al. American journal of human genetics 2018 Mar 102(3) 401-414 -
Risk management decisions in women with BRCA1 and BRCA2 mutations.
Morgan Rosemary et al. American journal of surgery 2018 Feb -
Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.
Matsudate Yoshihiro et al. Journal of dermatological science 2017 Jun 86(3) 206-211 -
Serum APE1 as a predictive marker for platinum-based chemotherapy of non-small cell lung cancer patients.
Zhang Shiheng et al. Oncotarget 2016 Nov 7(47) 77482-77494 -
Receptor tyrosine kinase amplified gastric cancer: Clinicopathologic characteristics and proposed screening algorithm.
Park Cheol Keun et al. Oncotarget 2016 Nov 7(44) 72099-72112 -
How the future of clinical cancer diagnostics can contribute to overcoming race-associated cancer disparities.
Bollig-Fischer Aliccia et al. Expert review of molecular diagnostics 2016 16(12) 1233-1235 -
Assessing HER2 testing quality in breast cancer: variables that influence HER2 positivity rate from a large, multicenter, observational study in Germany.
Rüschoff Josef et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Feb 30(2) 217-226 -
Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review.
Merker Jason D, et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 6 0. (16) 1631-1641 -
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Lu Hongyang et al. BMC cancer 2018 Mar 18(1) 251 -
A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.
Hanley Gillian E et al. BMC cancer 2018 Mar 18(1) 254 -
Prognostic Biomarker Identification Through Integrating the Gene Signatures of Hepatocellular Carcinoma Properties.
Cai Jialin et al. EBioMedicine 2017 May 1918-30 -
A counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
Katona Bryson W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar -
Tumor PIK3CA Genotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data.
Zardavas Dimitrios et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Feb JCO2017748301 -
How common are BRCA mutations?
Dana Farber Blog, Mar 1, 2018 -
Efficacy, Tolerability, and Biomarker Analyses of Once-Every-2-Weeks Cetuximab Plus First-Line FOLFOX or FOLFIRI in Patients With KRAS or All RAS Wild-Type Metastatic Colorectal Cancer: The Phase 2 APEC Study.
Cheng Ann-Lii et al. Clinical colorectal cancer 2017 Jun 16(2) e73-e88 -
Quality of Life Analysis in Patients With RAS Wild-Type Metastatic Colorectal Cancer Treated With First-Line Cetuximab Plus Chemotherapy.
Yamaguchi Kensei et al. Clinical colorectal cancer 2017 Jun 16(2) e29-e37 -
Toward Molecularly Driven Precision Medicine in Lung Adenocarcinoma.
Liu David et al. Cancer discovery 2017 7(6) 555-557 -
Prospective Comprehensive Molecular Characterization of Lung Adenocarcinomas for Efficient Patient Matching to Approved and Emerging Therapies.
Jordan Emmet J et al. Cancer discovery 2017 7(6) 596-609 -
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
Klein Alison P et al. Nature communications 2018 Feb 9(1) 556 -
Awareness and Misconceptions of Breast Cancer Risk Factors Among Laypersons and Physicians.
Morère Jean-François et al. Current oncology reports 2018 Mar 20(Suppl 1) 15 -
Evaluating and improving the implementation of a community-based hereditary cancer screening program.
Greenberg Samantha et al. Journal of community genetics 2018 Mar -
Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey.
Brédart Anne et al. Journal of community genetics 2018 Mar -
Five genetic changes linked to pancreatic cancer risk
Z Kassam, Drug Target Review, Feb 2018 -
March Monthly News & Updates
Forcing Our Risk Empowered, March 2018 -
When it comes to home cancer tests, think before you spit
K Painter, USA Today, Mar 8, 2018
Chronic Disease
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National Chronic Kidney Disease Fact Sheet 2017
CDC, Mar 2018 -
"Well, good luck with that": reactions to learning of increased genetic risk for Alzheimer disease.
Zallen Doris T, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 3 0. -
Diabetes is actually five separate diseases, research suggests
J Gallagher, BBC News, Mar 2, 2018 -
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.
Shin Jun Wan et al. Human molecular genetics 2016 25(20) 4566-4576 -
Genetic risk score and risk of stage 3 chronic kidney disease.
Ma Jiantao et al. BMC nephrology 2017 Jan 18(1) 32 -
Genetic syndromes of severe insulin resistance.
Melvin A et al. Current opinion in genetics & development 2018 Feb 5060-67 -
Progress in defining the genetic contribution to type 2 diabetes susceptibility.
Morris Andrew P et al. Current opinion in genetics & development 2018 Feb 5041-51 -
The Role of Lipoprotein(a) in Chronic Kidney Disease.
Hopewell Jemma C et al. Journal of lipid research 2018 Jan -
National Kidney Month
NIDDK, Mar 2018
Ethics/Policy/Law
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FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes,
FDA, March 6, 2018 -
FDA approves new direct to consumer genetic test for 3 BRCA mutations
FORCE, Mar 6, 2018 -
Personalized Medicine: Ethical Aspects.
Sharrer G Terry et al. Methods in molecular biology (Clifton, N.J.) 2017 160637-50 -
Your DNA, Your Say.
Middleton Anna et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Apr 23(1) 74-80 -
Tearing down the walls: FDA approves next generation sequencing (NGS) assays for actionable cancer genomic aberrations.
Allegretti Matteo et al. Journal of experimental & clinical cancer research : CR 2018 Mar 37(1) 47 -
Genetics and Justice: Must One Theory Fit All Contexts?
Gunson Darryl et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2018 Apr 27(2) 250-260 -
23andMe Will Now Test for BRCA Breast-Cancer Genes
It's the first FDA-authorized genetic-cancer-risk test available without a doctor's note.
S Zhang, The Atlantic, Mar 6, 2018 -
NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations
NSGC, Mar 6, 2018
Practice
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The Role of Cost-Effectiveness Analysis in Precision Medicine and Public Health Genomics
CDC Public Health Genomics Webinar, March 27, 2018 -
How genomics is changing nursing
Genomics Education UK, Mar 7, 2018 -
NIH pilot project will match researchers to genes, gene variants of interest
NIH News Release, Mar 1, 2018 -
Dear John, Theres no point in waiting any longer. Lets call it quits
S Bowen et al, CDC Blog, Mar 7, 2018 -
We need to reach a common understanding about real world data
L Annemans, BMJ Blog, Mar 6, 2018 -
Can Meditation Change Your Genes?
S Begley, Mindful, Feb 2018 -
Meta-analysis and the science of research synthesis.
Gurevitch Jessica, et al. Nature 2018 3 0. (7695) 175-182 -
Will Personalized Medicine Mean Higher Costs for Consumers?
M Geruso et al, Harvard Business Review, Mar 1, 2018 -
Precision maps for public health.
Reich Brian J et al. Nature 2018 Mar 555(7694) 32-33 -
Genetics for your whole life.
Nature genetics 2018 3 0. (3) 317.Nature genetics 2018 3 0. (3) 317 -
The Downside of Precision Medicine
Genome Web, Mar 1, 2018 -
Effects of Diet on Telomere Length: Systematic Review and Meta-Analysis.
Pérez Lisiane Marçal et al. Public health genomics 2018 Feb -
Leadership, Literacy, and Translational Expertise in Genomics: Challenges and Opportunities for Social Work.
Werner-Lin Allison et al. Health & social work 2016 Aug 41(3) e52-e59 -
?Just a Bit of Fun?: How Recreational is Direct-to-Customer Genetic Testing?
Felzmann Heike et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 21(1) 20-32 -
Tackling e-health literacy
LM Martinez, Public Health Matters Blog, March 2018 -
A taxonomy of medical uncertainties in clinical genome sequencing.
Han Paul K J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug 19(8) 918-925 -
Bringing genetic testing to the hospital lab.
Hawkins Matthew J et al. Health management technology 2017 Apr 38(4) 24 -
Work in Progress: Classifying Evidence-based Genomic Applications for Practice and Prevention
D Dotson et al, CDC Blog Post, Mar 2018 -
Using Genetic Risk Scores in the Prevention and Control of Common Diseases: Opportunities and Challenges
CDC-NIH webinar, May 9, 2018 -
Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.
Cohen Stephanie A et al. Journal of genetic counseling 2018 Mar -
Preventing Dangerous CRISPR Errors
Frontline Genomics, Mar 1, 2018 -
Artificial Intelligence in Medical Practice: The Question to the Answer?
Miller D Douglas et al. The American journal of medicine 2018 Feb 131(2) 129-133 -
Artificial Intelligence, Physiological Genomics, and Precision Medicine.
Williams Anna Marie et al. Physiological genomics 2018 Jan -
Public Health Masterclass in Genomics
Genomics Education Program 5 Video, Mar 2018 -
Data can help to end malnutrition across Africa.
Annan Kofi, et al. Nature 2018 0 0. (7694) 7 -
World's largest family tree reveals environment's influence on lifespan
EC Hayden, Nature News, Mar 1, 2018 -
Answers to patients' top 5 questions on All of Us Research Program
B Murphy, AMA, Feb 26, 2018 -
Should personal genomics be a standard healthcare procedure?
By Anya Rakhecha and Jeffrey To, the Varsiety, March 5, 2018
Heart, Lung, Blood and Sleep Diseases
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PCSK9 inhibitor valuation: A science-based review of the two recent models.
Baum Seth J, et al. Clinical cardiology 2018 4 0. (4) 544-550 -
PCSK9 inhibitors in clinical practice: Delivering on the promise?
Stoekenbroek Robert M, et al. Atherosclerosis 2018 3 0. 205-210 -
Beyond fitness tracking: The use of consumer-grade wearable data from normal volunteers in cardiovascular and lipidomics research.
Lim Weng Khong et al. PLoS biology 2018 Feb 16(2) e2004285 -
Embedding patient experience at the heart of rare disease research
Genomics England, Feb 28, 2018 -
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert Johanna C, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 3 0. -
A large electronic-health-record-based genome-wide study of serum lipids.
Hoffmann Thomas J et al. Nature genetics 2018 Mar -
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas Gerardo et al. BMC medical genetics 2017 18(1) 82 -
Molecular diagnosis of familial hypercholesterolaemia.
Graham Colin A et al. Current opinion in lipidology 2017 Aug 28(4) 313-320 -
Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.
Kasparian Nadine A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar -
Pathways to pulmonary hypertension in sickle cell disease: the search for prevention and early intervention.
Shilo Natalie R et al. Expert review of hematology 2017 10(10) 875-890 -
Precision medicine in pulmonary hypertension: Start with the end (point).
Mathai Stephen C et al. International journal of cardiology 2018 Apr 257339-340
Pharmacogenomics
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Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano Soledad et al. Neuromuscular disorders : NMD 2017 May 27(5) 492-499 -
Efficacy of prospective pharmacogenetic testing in the treatment of major depressive disorder: results of a randomized, double-blind clinical trial.
Pérez Víctor et al. BMC psychiatry 2017 Jul 17(1) 250 -
Opioid Overdoses Treated in Emergency Departments
CDC Vital Signs, Mar 6, 2018 -
The cost-effectiveness of HLA-B*5801 screening to guide initial urate-lowering therapy for gout in the United States.
Jutkowitz Eric et al. Seminars in arthritis and rheumatism 2017 Apr 46(5) 594-600 -
Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics.
Ahmad Taha et al. Biochemical pharmacology 2018 Feb -
Impact of CYP2C19 Polymorphisms on Clinical Outcomes and Antiplatelet Potency of Clopidogrel in Caucasian Poststroke Survivors.
Tomek Ale? et al. American journal of therapeutics 25(2) e202-e212 -
Artificial intelligence: Will a machine pick your next medication?
S Buckles, Mayo Clinic Blogs, Jan 2018
Reproductive Health
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The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands.
Bouman Katelijne et al. BMC pregnancy and childbirth 2017 Jan 17(1) 4 -
Attitudes of European Geneticists Regarding Expanded Carrier Screening.
Janssens Sandra et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN 46(1) 63-71