Published on 05/18/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.
Tamura D et al. The British journal of dermatology 2017 May 176(5) 1125-1126 -
After four years, it took a geneticist a few hours to unravel a boys puzzling illness
A Bond, Stat News, May 16, 2017 -
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
Cheema Huma Arshad et al. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2016 Jun 26(6) 498-502 -
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors.
Hufton Margaret et al. Developmental medicine and child neurology 2017 May -
Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.
Christensen Kurt D et al. Journal of empirical research on human research ethics : JERHRE 2017 Apr 12(2) 97-106
Cancer
-
New, simple online tool guides genetic testing for Lynch syndrome
Dana Farber, May 2017 -
Liquid Biopsies Remain Wait and See for Some Clinicians
Gen BIO, May 15, 2017 -
Pathology update to the Manchester Scoring System based on testing in over 4000 families.
Evans D Gareth et al. Journal of medical genetics 2017 May -
Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome.
Kastrinos Fay et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 May JCO2016696120 -
Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality.
Stanesby Oliver et al. European journal of human genetics : EJHG 2017 May -
Application of Panel-Based Tests for Inherited Risk of Cancer.
Shah Payal D et al. Annual review of genomics and human genetics 2017 May -
Cost-Effectiveness of a Bronchial Genomic Classifier for the Diagnostic Evaluation of Lung Cancer.
Feller-Kopman David et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 May -
Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.
Rey Jean-Marc et al. The Journal of molecular diagnostics : JMD 2017 May -
Heightened perception of breast cancer risk in young women at risk of familial breast cancer.
Glassey Rachael et al. Familial cancer 2017 May -
Implementing liquid biopsies into clinical decision making for cancer immunotherapy.
Quandt Dagmar et al. Oncotarget 2017 Apr -
Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer.
Maxwell Kara N et al. Breast cancer research and treatment 2017 May -
Practice Patterns of Hereditary Ovarian Cancer Management in Korea.
Choi Min Chul et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 May -
Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years.
Anagnostopoulos Antonios et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 May -
Uptake of a 21-gene expression assay in breast cancer practice: views of academic and community-based oncologists.
O'Brien M A et al. Current oncology (Toronto, Ont.) 2017 Apr 24(2) e138-e145 -
Improving molecular testing and personalized medicine in non-small-cell lung cancer in Ontario.
Lim C et al. Current oncology (Toronto, Ont.) 2017 Apr 24(2) 103-110 -
Multigene expression profile testing in breast cancer: is there a role for family physicians?
O'Brien M A et al. Current oncology (Toronto, Ont.) 2017 Apr 24(2) 95-102 -
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Moghadasi Setareh et al. Journal of medical genetics 2017 May -
AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS).
Zeimet Alain G et al. Archives of gynecology and obstetrics 2017 May -
Next generation sequencing is informing phenotype: a TP53 example.
O'Shea R et al. Familial cancer 2017 May -
Multigene assays: Implications for breast cancer staging.
Greene Frederick L et al. Journal of surgical oncology 2017 May -
Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.
Healey Emma et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May -
Sociodemographic and attitudinal predictors of simultaneous and redundant multiple marker and cell-free DNA screening among women aged ⩾35 years.
Lewkowitz A K et al. Journal of perinatology : official journal of the California Perinatal Association 2017 May -
Multigene testing for breast cancer risk assessment: an illusion of added clinical value.
Sokolenko Anna et al. Chinese clinical oncology 2017 Apr 6(2) 15 -
Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.
Zehir Ahmet et al. Nature medicine 2017 May -
Roadmap to a Comprehensive Clinical Data Warehouse for Precision Medicine Applications in Oncology.
Foran David J et al. Cancer informatics 2017 161176935117694349 -
Decision making, quality of life and prophylactic gastrectomy in carriers of pathogenic CDH1 mutations.
Roberts Geoffrey et al. Translational gastroenterology and hepatology 2017 221 -
Circulating Tumor DNA as Biomarkers for Cancer Detection.
Han Xiao et al. Genomics, proteomics & bioinformatics 2017 Apr 15(2) 59-72 -
Selecting postoperative adjuvant systemic therapy for early stage breast cancer: A critical assessment of commercially available gene expression assays.
Hyams David M et al. Journal of surgical oncology 2017 Feb -
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
Frey Melissa K et al. Gynecologic oncology 2017 May -
Sample types applied for molecular diagnosis of therapeutic management of advanced non-small cell lung cancer in the precision medicine.
Han Yanxi et al. Clinical chemistry and laboratory medicine 2017 May -
Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing.
Maga Tara et al. Clinical and translational gastroenterology 2017 May 8(5) e92 -
Universal molecular screening does not effectively detect Lynch syndrome in clinical practice.
Brennan Beatrice et al. Therapeutic advances in gastroenterology 2017 Apr 10(4) 361-371
Chronic Disease
-
Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.
Jaitovich Groisman Iris et al. European journal of human genetics : EJHG 2017 May -
Gene-Environment Interactions in Preventive Medicine: Current Status and Expectations for the Future.
Narimatsu Hiroto et al. International journal of molecular sciences 2017 Jan 18(2) -
Gene and environment interaction: Is the differential susceptibility hypothesis relevant for obesity?
Dalle Molle Roberta et al. Neuroscience and biobehavioral reviews 2017 Feb 73326-339 -
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy Noémi B A et al. British journal of haematology 2016 Oct 175(2) 318-330 -
Educational Gaps in Molecular Diagnostics, Genomics, and Personalized Medicine in Dermatopathology Training: A Survey of US Dermatopathology Fellowship Program Directors.
Torre Kristin et al. The American Journal of dermatopathology 2017 May -
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Walsh Maie et al. Annals of clinical and translational neurology 2017 May 4(5) 318-325 -
The genetics of human longevity: an intricacy of genes, environment, culture and microbiome.
Dato Serena et al. Mechanisms of ageing and development 2017 Apr -
Things genes cant do
A Buchanan, Aeon Magazine, 2017 -
The Genetics of Pooched-Out Pooches - A mutation in some obesity-prone dog breeds might reveal new risk factors for obesity in humans and perhaps give rise to new drugs.
R Khamsi, New York Times, May 2017 -
Leveraging genomic data in smoking cessation trials in the era of Precision Medicine: Why and how.
Chen Li-Shiun et al. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2017 May -
A computational algorithm for personalized medicine in schizophrenia.
Lee Beom S et al. Schizophrenia research 2017 May
Ethics/Policy/Law
-
New Gene Tests Pose a Threat to Insurers
G Kolata, New York Times, May 2017 -
"My Whole Life is Ethics!" Ordinary Ethics and Gene Therapy Clinical Trials.
Addison Courtney et al. Medical anthropology 2017 May -
Gene patents still alive and kicking: their impact on provision of genetic testing for long QT syndrome in the Canadian public health-care system.
Ali-Khan Sarah E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
Practice
-
A Decade Later, a Patient Finds Out Her Genetic Test Was Wrong,
by Sarah Zhang, The Atlantic, May 11, 2017 -
Inter-Society Coordinating Committee for Practitioner Education in Genomics
-
Uninformed consent in nutrigenomic research.
Janssens A Cecile Jw et al. European journal of human genetics : EJHG 2017 May -
Patient and community attitudes toward perioperative biobanking and genomic research.
Liddell J et al. Anaesthesia and intensive care 2017 May 45(3) 384-395 -
Embracing an "African Ethos" to facilitate African immigrants participation in medical genetics and genomics research.
Buseh Aaron G et al. Nursing outlook 65(1) 9-17 -
Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test.
Shum Bennett O V et al. The Journal of molecular diagnostics : JMD 2017 May -
A 'joint venture' model of recontacting in clinical genomics: Challenges for responsible implementation.
Dheensa Sandi et al. European journal of medical genetics 2017 May -
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
Bick David et al. Journal of pediatric genetics 2017 Jun 6(2) 61-76 -
Generalizable Biomarkers in Critical Care: Toward Precision Medicine.
Sweeney Timothy E et al. Critical care medicine 2017 Jun 45(6) 934-939 -
Integration of biomarkers to advance precision nursing interventions for family research across the life span.
Corwin Elizabeth J et al. Nursing outlook 64(4) 292-8 -
Differential analysis of mutations in the Jewish population and their implications for diseases.
Einhorn Yaron et al. Genetics research 2017 May 99e3 -
Dissemination and Implementation Research: From a Reporting Framework to Precision Medicine.
Chambers David A et al. American journal of public health 2017 Jun 107(6) 839-840 -
G2C2 expands genomic resources for health professionals
K Palmer, NHGRI, May 2017 -
This $25,000 physical has found some serious health problems. Others say it has serious problems
R Cross, Science, May 12, 2017 -
Knowing your familys health history can help you stay healthier,
by Dr. Gretchen Wells, Lexington Herald Leader, May 14, 2017 -
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp Keith et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
Heart, Lung, Blood and Sleep Diseases
-
Heritability and risks associated with early onset hypertension: multigenerational, prospective analysis in the Framingham Heart Study.
Niiranen Teemu J et al. BMJ (Clinical research ed.) 2017 May 357j1949 -
New data on familial hypercholesterolaemia and acute coronary syndromes: The promise of PCSK9 monoclonal antibodies in the light of recent clinical trials.
Ellis Katrina L et al. European journal of preventive cardiology 2017 Jan 2047487317708890 -
The rationale and design of the national familial hypercholesterolemia registries in Turkey: A-HIT1 and A-HIT2 studies.
Kayikçioglu Meral et al. Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2017 Apr 45(3) 261-267 -
Transitioning from pediatric to adult health care with familial hypercholesterolemia: Listening to young adult and parent voices.
Sliwinski Samantha K et al. Journal of clinical lipidology 11(1) 147-159 -
Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Brown Emily E et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2017 May 1-4
Newborn Screening
-
New tools and approaches to newborn screening: ready to open Pandora's box?
Ficicioglu Can et al. Cold Spring Harbor molecular case studies 2017 May 3(3) a001842 -
An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
Blom Maartje et al. Clinical immunology (Orlando, Fla.) 2017 May -
Education for fathers about newborn screening and leftover dried blood spots.
Rothwell Erin et al. Journal of community genetics 2017 May -
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Brunelli Luca et al. American journal of medical genetics. Part A 2017 May
Pharmacogenomics
-
Genotype-guided dosing of warfarin through modeling and simulation.
Deng Jiexin et al. European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences 2017 May -
The Importance of Gene-Drug-Drug-Interactions in Pharmacogenomics Decision Support: An Analysis Based on Austrian Claims Data.
Blagec Kathrin et al. Studies in health technology and informatics 2017 236121-127 -
Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.
López-Flores Luis A et al. EXCLI journal 2017 16174-196 -
Personalized Therapeutics and Pharmacogenomics: Integral to Personalized Health Care.
Sadee Wolfgang et al. Pharmaceutical research 2017 May
Reproductive Health
-
Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.
Hill Melissa et al. Health expectations : an international journal of public participation in health care and health policy 2017 May -
Recommended practice for laboratory reporting of non-invasive prenatal testing (NIPT) of trisomies 13, 18 and 21: a consensus opinion.
Deans Zandra C et al. Prenatal diagnosis 2017 May