Published on 02/15/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Novo Mutations Can be Important in Autism
Front Line Genomics, Feb 12, 2018 -
Duchenne Muscular Dystrophy Care Considerations
CDC Information, Feb 2018 -
Rady Children's Institute sets Guinness world record
A pediatric genetics nonprofit in San Diego recently proved it could sequence a whole genome in a world record time of 19.5 hours. P Sisson, San Diego Herald, Feb 2018 -
Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
Heimall Jennifer et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Aug 23(8) 1229-1240 -
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
Jéru Isabelle et al. European journal of human genetics : EJHG 2016 24(11) -
Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era.
Wiencek Joesph R et al. Clinical chemistry 2018 Feb -
NIH releases first dataset from unprecedented study of adolescent brain development
NIH, Feb 13, 2018 -
World Rare Disease Day: February 28, 2018
Global Genes, Feb 2018 -
Research matters: How a brother with Down syndrome inspired a PhD in tuberculosis and an ardor for science communication
Wright Meredith et al. PLoS pathogens 2018 Feb 14(2) e1006816 -
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell Gloria T et al. Neurology. Genetics 2018 Feb 4(1) e212 -
Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology.
Gravholt Claus H et al. Endocrine reviews 2018 Feb -
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan.
Birnkrant David J et al. The Lancet. Neurology 2018 Feb -
Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.
Estilow Timothy et al. The American journal of occupational therapy : official publication of the American Occupational Therapy Association 72(2) 7202345010p1-7202345010p5
Cancer
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Precision Medicine: Hope or Hype?
M Barbor, ASCO Post, Feb 10, 2018 -
Screening for Ovarian Cancer: US Preventive Services Task Force Recommendation Statement.
, et al. JAMA 2018 0 0. (6) 588-594 -
Circulating Cell-Free Tumor DNA Analysis of 50 Genes by Next-Generation Sequencing in the Prospective MOSCATO Trial.
Jovelet Cécile et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Jun 22(12) 2960-8 -
Next-Generation Sequencing in Diffuse Large B-Cell Lymphoma Highlights Molecular Divergence and Therapeutic Opportunities: a LYSA Study.
Dubois Sydney et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Jun 22(12) 2919-28 -
Precision Medicine for Diffuse Large B-cell Lymphoma.
Lim Megan S et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Jun 22(12) 2829-31 -
Population-Based BRCA1/2 Testing in Ashkenazi Jews: Ready for Prime Time.
Lynce Filipa et al. Journal of the National Comprehensive Cancer Network : JNCCN 2016 14(6) 809-12 -
Prognostic value and their clinical implication of 89-gene signature in glioma.
Shahid Muhammad et al. Oncotarget 2016 Aug 7(32) 51237-51250 -
The 21-gene recurrence score in special histologic subtypes of breast cancer with favorable prognosis.
Turashvili Gulisa et al. Breast cancer research and treatment 2017 Aug 165(1) 65-76 -
PRECISION ONCOLOGY DECISION SUPPORT: CURRENT APPROACHES AND STRATEGIES FOR THE FUTURE.
Kurnit Katherine C et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Feb -
Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel.
Fernandez-Rozadilla Ceres et al. British journal of cancer 2018 Feb -
Identification of a Good-Prognosis IDH-Mutant-Like Population of Patients with Diffuse Gliomas.
Wang Z et al. Current molecular medicine 2018 Feb -
Leveraging Genomics for Head and Neck Cancer Treatment.
Kemmer J D et al. Journal of dental research 2018 Feb 22034518756352 -
Genotyping and mRNA profiling reveal actionable molecular targets in biliary tract cancers.
Papadopoulou Kyriaki et al. American journal of cancer research 2018 8(1) 2-15 -
GDISC: a web portal for integrative analysis of gene-drug interaction for survival in cancer.
Spainhour John Christian Givhan et al. Bioinformatics (Oxford, England) 2017 May 33(9) 1426-1428 -
Key Lessons Learned from Moffitt's Molecular Tumor Board: The Clinical Genomics Action Committee Experience.
Knepper Todd C et al. The oncologist 2017 Feb 22(2) 144-151 -
Breast cancer multigene testing trends and impact on chemotherapy use.
Ray G Thomas et al. The American journal of managed care 2016 May 22(5) e153-60 -
The Clinical Impact of BRCA2 Loss in Prostate Cancer.
Bryant Helen E et al. European urology 2016 69(6) 996-7 -
FDA Approval Summary: Dabrafenib and Trametinib for the Treatment of Metastatic Non-Small Cell Lung Cancers Harboring BRAF V600E Mutations.
Odogwu Lauretta et al. The oncologist 2018 Feb -
A Two-Phase Approach to Developing SNAP: an iPhone Application to Support Appointment Scheduling and Management for Women with a BRCA Mutation.
Scherr Courtney Lynam et al. Journal of genetic counseling 2018 Feb -
Genetic Testing and Early Onset Colon Cancer.
Chung Daniel C et al. Gastroenterology 2018 Feb -
The prognostic value of a seven-microRNA classifier as a novel biomarker for the prediction and detection of recurrence in glioma patients.
Chen Wanghao et al. Oncotarget 2016 Aug 7(33) 53392-53413 -
Precision medicine and oncology: an overview of the opportunities presented by next-generation sequencing and big data and the challenges posed to conventional drug development and regulatory approval pathways.
Doherty M et al. Annals of oncology : official journal of the European Society for Medical Oncology 2016 27(8) 1644-6 -
The Yet Unrealized Promise of Ovarian Cancer Screening.
Drescher Charles W, et al. JAMA oncology 2018 4 0. (4) 456-457 -
Association Between Circulating Tumor DNA and Pseudoprogression in Patients With Metastatic Melanoma Treated With Anti-Programmed Cell Death 1 Antibodies.
Lee Jenny H et al. JAMA oncology 2018 Feb e175332 -
Utilization of genomic testing in advanced non-small cell lung cancer among oncologists in the Veterans Health Administration.
Arney Jennifer et al. Lung cancer (Amsterdam, Netherlands) 2018 Feb 11625-29 -
Harnessing genomics to improve outcomes for women with cancer in India: key priorities for research.
Sundar Sudha et al. The Lancet. Oncology 2018 Feb 19(2) e102-e112 -
Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma.
Wrzeszczynski Kazimierz O et al. Methods in molecular biology (Clifton, N.J.) 2018 17411-29 -
Targeted deep sequencing of circulating tumor DNA in metastatic pancreatic cancer.
Berger Andreas W et al. Oncotarget 2018 Jan 9(2) 2076-2085 -
A miRNA-based classification of renal cell carcinoma subtypes by PCR and in situ hybridization.
Meo Ashley Di et al. Oncotarget 2018 Jan 9(2) 2092-2104 -
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma.
Romero Arenas Minerva A et al. Annals of surgical oncology 2018 Feb -
The new NICE guideline for Lynch syndrome testing explained
Cancer UK, 2018 -
Screening for Ovarian Cancer in Asymptomatic Women.
Lu Karen H, et al. JAMA 2018 0 0. (6) 557-558 -
The Lloyd family: Three sisters, Mary, Sandra and Kerry Lloyd all developed breast cancer within 15 months of each other
Genomics England, 2018 -
Planning a Genomic Characterization Study? Tips for Collecting and Processing Biospecimens
NCI, Jan 2018 -
Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care.
Ha Vu T Dung et al. BMC medical genomics 2018 Feb 11(1) 18 -
Integrated Epigenomics Analysis Reveals a DNA Methylation Panel for Endometrial Cancer Detection Using Cervical Scrapings.
Huang Rui-Lan et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jan 23(1) 263-272 -
KRAS Targeted Cancer Strategy Shows Early Promise
NIH Director Blog, Feb 13, 2018 -
A Personal Attack: New genetic findings in prostate cancer are opening up more precise therapies for men with advanced metastatic disease.
J Erdmann, Genome Magazine, Jan 2018 -
A 13-gene expression-based radioresistance score highlights the heterogeneity in the response to radiation therapy across HPV-negative HNSCC molecular subtypes.
Foy Jean-Philippe et al. BMC medicine 2017 Sep 15(1) 165 -
Male BRCA mutation carriers: clinical characteristics and cancer spectrum.
Ibrahim Mohammed et al. BMC cancer 2018 Feb 18(1) 179 -
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Bhola Priya T et al. Familial cancer 2018 Feb
Chronic Disease
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Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry.
Reidy Kimberly J et al. Current opinion in pediatrics 2018 Feb -
Precision Nutrition and Type 2 Diabetes Management: Is It Ready for Prime Time?
Harvard School of Public Health, Feb 2018 -
Genome-Wide Analysis Studies and Chronic Kidney Disease.
Piras Doloretta et al. Kidney diseases (Basel, Switzerland) 2017 Dec 3(3) 106-110 -
How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration?
McCarty Catherine A et al. Optometry and vision science : official publication of the American Academy of Optometry 2018 Feb
Ethics/Policy/Law
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Seen At 11: Genetic Testing Results Could Prevent Users From Getting Insurance,
CBS New York, February 7, 2018 -
Communicating Identifiability Risks to Biobank Donors.
Kasperbauer T J et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2018 Jan 27(1) 123-136 -
Identification and genomic data
A Hall, PHG Foundation, Feb 2018 -
Privacy Challenges of Genomic Big Data.
Shen Hong et al. Advances in experimental medicine and biology 2017 1028139-148 -
Laying the Groundwork for Real-World Genomic Data Sharing by 2020
Frontline Genomics, Feb 9, 2018
Practice
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Application of the GRADE Approach in the Development of Guidelines and Recommendations in Genomic Medicine.
Rafiq Muhammad et al. Genomics insights 2018 111178631017753360 -
Willingness to pay for personalised nutrition across Europe.
Fischer Arnout R H et al. European journal of public health 2016 Aug 26(4) 640-4 -
Clinical interpretation of copy number variants in the human genome.
Nowakowska Beata et al. Journal of applied genetics 2017 Nov 58(4) 449-457 -
Why precision medicine is not the best route to a healthier world.
Rey-López Juan Pablo et al. Revista de saude publica 2018 Feb 5212 -
Characteristics of genetic diseases in consanguineous populations in the genomic era: lessons from Arab communities in North Israel.
Shalev S A et al. Clinical genetics 2018 Feb -
[Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry].
Huang Hui et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Feb 35(1) 1-8 -
The "New Genetics" in Clinical Practice: A Brief Primer.
Milunsky Aubrey et al. Journal of the American Board of Family Medicine : JABFM 30(3) 377-379 -
23andMe resumes giving consumers genetic health information: Company's tests for rare and common diseases aren't diagnostic.
et al. American journal of medical genetics. Part A 2017 Aug 173(8) 2003-2004 -
Understanding the Precision in "Precision Medicine".
Chabner Bruce A et al. The oncologist 2016 21(9) 1029-30 -
Patient-centered research and practice in the era of genomics: a novel approach.
Salek Sam et al. Haematologica 2016 101(7) 792-3 -
I took three DNA genetic tests for diet and fitness and got three VERY different results
V Chalmers, Healthista, Feb 6, 2018 -
Attitudes towards Personal Genomics and Sharing of Genetic Data among Older Swiss Adults: A Qualitative Study.
Mählmann Laura et al. Public health genomics 2018 Feb -
"Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.
Nelson Sarah C et al. Journal of genetic counseling 2018 Feb -
The promise of precision medicine for health systems.
Shapiro Stephen D et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1907-1908 -
Population Testing for High Penetrance Genes: Are We There Yet?
Wentzensen Nicolas et al. Journal of the National Cancer Institute 2018 Feb -
Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.
Nouri Narges et al. Journal of medical ethics and history of medicine 2017 1012 -
Clinical Utility of Genotyping Human Erythrocyte Antigens.
Wilkinson David S et al. Laboratory medicine 2016 Aug 47(3) e28-31 -
Day in the life: trainee genetic counsellor
Genomics Education UK, Feb 12, 2018 -
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
Azzariti Danielle R et al. Cold Spring Harbor molecular case studies 2018 Feb 4(1) -
Genetic testing is about to redraw a lot of family trees,
by Linda Rodriguez McRobbie, Boston Globe, February 11, 2018 -
Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory.
Wakefield Emily et al. Journal of genetic counseling 2018 Feb -
How is genetic testing evaluated? A systematic review of the literature.
Pitini Erica et al. European journal of human genetics : EJHG 2018 Feb -
Developing a 2020 vision for genomics: NHGRI launches new round of strategic planning
NHGRI Feb 12, 2018 -
2017 was the year consumer DNA testing blew up
A Regalado, Tech Rev, Feb 2018 -
Electronic health record problem lists: accurate enough for risk adjustment?
Daskivich Timothy J et al. The American journal of managed care 2018 Jan 24(1) e24-e29 -
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Reuter Miriam S et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Feb 190(5) E126-E136 -
Real Stories: The Power of Personal Stories for Communicating Genomic Information
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Annual review 2017
PHG Foundation, Jan 2018 -
Informatics and Machine Learning to Define the Phenotype.
Basile Anna Okula et al. Expert review of molecular diagnostics 2018 Feb
Heart, Lung, Blood and Sleep Diseases
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Million Hearts® 2022: A Compelling Call to Action
CDC Grand Rounds, Feb 22, 2018 -
Advances in the diagnosis and treatment of Von Willebrand disease.
Sharma Ruchika et al. Blood 2017 130(22) 2386-2391 -
Effect of polymorphisms in the CD36 and STAT3 genes on different dietary interventions among patients with coronary artery disease: study protocol for a randomized controlled trial.
Portal Vera Lucia et al. Trials 2016 17(1) 437 -
Factor VIII Inhibitors: Generating a National Blueprint for Future Research
NHLBI Conference, May 15-18, 2018 -
Signs and symptoms of a bleeding disorder
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Taking personalized medicine to heart.
et al. Nature medicine 2018 Feb 24(2) 113 -
Genomics and Precision Medicine for Clinicians and Scientists in Hypertension.
Dominiczak Anna et al. Hypertension (Dallas, Tex. : 1979) 2017 69(4) e10-e13 -
Relationship between genetic and environmental factors and hypercholesterolemia in children.
Robledo Jorge A et al. Archivos argentinos de pediatria 2016 Oct 114(5) 419-25 -
Guidance for Pediatric Familial Hypercholesterolemia 2017.
Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2018 Feb -
Best Practices for Cardiovascular Disease Prevention Programs
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Genetic Predisposition to High Blood Pressure and Lifestyle Factors: Associations with Midlife Blood Pressure Levels and Cardiovascular Events.
Pazoki Raha et al. Circulation 2017 Dec -
Advances in the diagnosis and treatment of Von Willebrand disease.
Sharma Ruchika et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 379-384 -
Next generation sequencing applications for cardiovascular disease.
Kalayinia Samira et al. Annals of medicine 2018 Mar 50(2) 91-109 -
Hemophilia Gene Therapies Show Promise.
Abbasi Jennifer, et al. JAMA 2018 2 0. (6) 539 -
Fact Sheets: Sickle Cell Disease (SCD)
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Facts about Congenital Heart Defects
The causes of most cases are unknown but some are caused by genetic diseases and gene-environment interactions -
Gene therapies for hemophilia hit the mark in clinical trials.
Pickar Adrian K et al. Nature medicine 2018 Feb 24(2) 121-122 -
Genetic Origins of Tetralogy of Fallot.
Morgenthau Ari et al. Cardiology in review 26(2) 86-92 -
Genetic Programming of Hypertension.
Ahn Sun-Young et al. Frontiers in pediatrics 2017 5285 -
Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease.
Thériault Sébastien, et al. Circulation. Genomic and precision medicine 2018 1 0. (1) e001849 -
Find FH Patients in your practice
Machine learning tool from the FH Foundation -
Genetic cardiovascular disease: Is your family at risk?
S Buckles, Mayo clinic, Feb 13, 2018 -
Screening for rare genetic variants associated with atherosclerosis: opportunity for personalized medicine.
Peterlin Ana et al. Current vascular pharmacology 2018 Feb
Pharmacogenomics
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Evaluation of prescriber responses to pharmacogenomics clinical decision support for thiopurine S-methyltransferase testing.
Ubanyionwu Samuel et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2018 Feb 75(4) 191-198 -
Education and Knowledge in Pharmacogenomics: Still a Challenge?
Giri Jyothsna et al. Clinical pharmacology and therapeutics 2018 Feb -
Impact of SLC22A1 and CYP3A5 genotypes on imatinib response in chronic myeloid leukemia: a systematic review and meta-analysis.
Cargnin Sarah et al. Pharmacological research 2018 Feb -
Depression and Pharmacogenetics.
Ampong David Nana et al. Archives of psychiatric nursing 2018 Feb 32(1) 71-74
Reproductive Health
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Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.
Janssens Sandra et al. BMC medical ethics 2017 Aug 18(1) 46 -
[Data analysis of non-invasive prenatal testing based on special loci in cell-free fetal DNA].
Xuan Liming et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Feb 35(1) 56-59 -
Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing.
Lynch Frances L et al. Journal of genetic counseling 2018 Feb -
Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy.
Burns Joseph K et al. Neuromuscular disorders : NMD 2016 Sep 26(9) 551-9 -
High-throughput, non-invasive prenatal testing for fetal RHD genotype to guide antenatal prophylaxis with anti-D immunoglobulin: a cost-effectiveness analysis.
Saramago Pedro et al. BJOG : an international journal of obstetrics and gynaecology 2018 Feb -
THE PRICE OF ABANDONING DIAGNOSTIC TESTING FOR CELL FREE FETAL DNA SCREENING.
Evans Mark I et al. Prenatal diagnosis 2018 Feb -
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Halliday Jane L et al. European journal of human genetics : EJHG 2018 Feb -
Reproductive decision making: interviews with mothers of children with undiagnosed developmental delay.
Pond Emily et al. Journal of community genetics 2018 Feb -
Importance of complete phenotyping in prenatal whole exome sequencing.
Aarabi Mahmoud et al. Human genetics 2018 Feb -
Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.
Amor David J et al. Reproductive health 2018 Feb 15(1) 26 -
Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor.
Rietzler Jennifer L et al. Journal of genetic counseling 2018 Feb -
Genetic Counseling Overview for the Obstetrician-Gynecologist.
Hoskovec Jennifer M et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 1-12