Published on 02/08/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
-
The DNA database that is key to beating our rarest diseases,
The Guardian, February 3, 2018 -
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
Wu Lily et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 Jan 1-7 -
Parental attitudes and expectations towards receiving genomic test results in healthy children.
Kulchak Rahm Alanna et al. Translational behavioral medicine 2018 Jan 8(1) 44-53 -
The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Reale Chiara et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 Jan -
A database for screening and registering late onset Pompe disease in Turkey.
Gokyigit Munevver Celik et al. Neuromuscular disorders : NMD 2017 Dec -
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Fernandez Bridget A et al. Dialogues in clinical neuroscience 2017 Dec 19(4) 353-371 -
The Cost of a Cure: Sticker shock fuels uncertainty over access to gene therapies even among insured.
G Uyeno, Genome Magazine, Feb 2018 -
Study of first-graders shows fetal alcohol spectrum disorders prevalent in U.S. communities
NIH Research Matters, Feb 6, 2018 -
Translational research to enable personalized treatment of cystic fibrosis.
Hagemeijer Marne C et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Dec -
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Jamuar Saumya S et al. The Journal of pediatrics 2018 Feb -
Cystic Fibrosis: Lungs Bacterial Population Changes in the First Few Years of Life
Frontline Genetics, Feb 7, 2018 -
Paediatric genomics: diagnosing rare disease in children.
Wright Caroline F et al. Nature reviews. Genetics 2018 Feb -
[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].
Demougeot L et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Jan -
Now You Can Genetically Test Your Child For Disease Risks. Should You?
By Sarah Elizabeth Richards, Smithsonian.com, February 5, 2018 -
Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics.
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb -
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton Emma J et al. Kidney international 2018 Feb -
Engaging a Community for Rare Genetic Disease: Best Practices and Education From Individual Crowdfunding Campaigns.
Ortiz Romina Alicia et al. Interactive journal of medical research 2018 Feb 7(1) e3 -
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti Sabina et al. European journal of human genetics : EJHG 2018 Feb
Cancer
-
Integrating the Genetics of Race and Ethnicity Into Cancer Research: Trailing Jane and John Q. Public.
Newman Lisa A et al. JAMA surgery 2018 Jan -
Impact of genomic alterations on lapatinib treatment outcome and cell-free genomic landscape during HER2 therapy in HER2-positive gastric cancer patients.
Kim S T et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Feb -
Personalized medicine in colorectal cancer diagnosis and treatment: a systematic review of health economic evaluations.
Guglielmo Annamaria et al. Cost effectiveness and resource allocation : C/E 2018 162 -
Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.
Spoto Clothaire P E et al. Seminars in diagnostic pathology 2018 Jan -
Talking with Children About Adult-Onset Hereditary Cancer Risk: A Developmental Approach for Parents.
Werner-Lin Allison et al. Journal of genetic counseling 2018 Jan -
Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer.
Takeda Takashi et al. Journal of gynecologic oncology 2018 Jan -
Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.
Kaphingst Kimberly A et al. Translational behavioral medicine 2018 Jan 8(1) 71-79 -
Development of a personalized therapeutic strategy for ERBB-gene-mutated cancers.
Milewska Malgorzata et al. Therapeutic advances in medical oncology 2018 101758834017746040 -
Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer.
Yadav Siddhartha et al. Clinical breast cancer 2017 Dec -
Molecular Testing Guideline for the Selection of Patients With Lung Cancer for Treatment With Targeted Tyrosine Kinase Inhibitors: American Society of Clinical Oncology Endorsement of the College of American Pathologists/International Association for the Study of Lung Cancer/Association for Molecular Pathology Clinical Practice Guideline Update.
Kalemkerian Gregory P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Feb JCO2017767293 -
BRCA Breast Cancer Patients Finally Have a Non-Chemotherapy Treatment Option
D Sabin, Genome Magazine, Feb 2018 -
Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience.
Jung Hyun Ae et al. Annals of laboratory medicine 2018 May 38(3) 196-203 -
Breast Cancer Screening in the High-risk Population.
Vecchio Mary M et al. Asia-Pacific journal of oncology nursing 5(1) 46-50 -
RAS mutation testing in patients with metastatic colorectal cancer in French clinical practice: A status report in 2014.
Lièvre Astrid et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018 Jan -
Practical guide for the comparison of two next-generation sequencing systems for solid tumour analysis in a universal healthcare system.
Maxwell Perry et al. Journal of clinical pathology 2018 Jan -
Liquid Biopsy in Prostate Cancer: A Case for Comprehensive Genomic Characterization of Circulating Tumor Cells.
Boral Debasish et al. Clinical chemistry 2018 Feb 64(2) 251-253 -
Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk.
Aspinwall Lisa G et al. Translational behavioral medicine 2018 Jan 8(1) 29-43 -
It's Been Five Years Since My Diagnosis Of Breast Cancer And I'm Only Just Beginning To Move On -
If I live, I'll be the first generation in the history of my family to have survived not just one, but two, cancer diagnoses
Huffington Post Blog, Feb 5, 2018 -
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.
Lindeman Neal I et al. The Journal of molecular diagnostics : JMD 2018 Jan -
Molecular subtyping of breast cancer improves identification of both high and low risk patients.
Rossing Maria et al. Acta oncologica (Stockholm, Sweden) 2018 Jan 57(1) 58-66 -
Feasibility study to assess the impact of a lifestyle intervention ('LivingWELL') in people having an assessment of their family history of colorectal or breast cancer.
Anderson Annie S et al. BMJ open 2018 Feb 8(2) e019410 -
"Guys Don't Have Breasts": The Lived Experience of Men Who Have BRCA Gene Mutations and Are at Risk for Male Breast Cancer.
Skop Michelle et al. American journal of men's health 2018 Feb 1557988317753241 -
Endoscopic screening for hereditary diffuse gastric cancer: one size does not fit all.
de Almeida Artifon Everson Luiz et al. Gastrointestinal endoscopy 2018 Feb 87(2) 405-407 -
Inheritance Matters: The Race to Prevent New Ovarian Cancer Cases
SC. Modesitt, Onc Live, Feb 1, 2018 -
7 Things YOU Can Do to Prevent Cancer
Look in your genes. Your family's health and cancer history can affect you now and in the future. -
Current concepts in molecular genetics and management guidelines for pancreatic cystic neoplasms: an essential update for radiologists.
Kulzer Matthew et al. Abdominal radiology (New York) 2018 Feb -
Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Lammert Jacqueline et al. Breast cancer research and treatment 2018 Feb -
Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients.
Rodríguez-Balada M et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2018 Feb -
Study Finds Biological Differences in Lung Tumors of African Americans and Whites
NCI Blog, Jan 2018 -
"Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome.
Suttman Alexandra et al. Journal of genetic counseling 2018 Feb -
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.
Swanson Casey L et al. Gynecologic oncology 2018 Feb -
Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.
Weigl Korbinian et al. Clinical epidemiology 2018 10143-152
Chronic Disease
-
RNA-Targeted Therapies and Amyotrophic Lateral Sclerosis.
Mathis Stéphane et al. Biomedicines 2018 Jan 6(1) -
Creative Minds: Building Better Computational Models of Common Disease
NIH Director's Blog, Feb 8, 2018 -
A transcript-wide association study in physical activity intervention implicates molecular pathways in chronic disease
K Claypool et al, BIORxIV, Feb 5, 2018 -
Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis.
Tosolini Andrew P et al. Frontiers in molecular neuroscience 2017 10405 -
Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.
El Lakis Mustapha et al. Journal of the American College of Surgeons 2018 Feb -
The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor's Perspective.
Verbrugge Jennifer et al. Journal of genetic counseling 2018 Feb -
Alpha-Adrenergic Receptors in PTSD - Failure or Time for Precision Medicine?
Ressler Kerry J et al. The New England journal of medicine 2018 Feb 378(6) 575-576 -
The prospects of CRISPR-based genome engineering in the treatment of neurodegenerative disorders.
Shin Jun Wan et al. Therapeutic advances in neurological disorders 2018 111756285617741837 -
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba Marta et al. PloS one 2018 13(2) e0191228 -
Living with a Rare Health Condition: The Influence of a Support Community and Public Stigma on Communication, Stress, and Available Support.
Zhu Xun et al. Journal of applied communication research : JACR 2017 45(2) 179-198 -
Advances in Understanding the Molecular Basis of the Mediterranean Diet Effect.
Corella Dolores et al. Annual review of food science and technology 2018 Jan -
Patient communication of cancer genetic test results in a diverse population.
Ricker Charité N et al. Translational behavioral medicine 2018 Jan 8(1) 85-94 -
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall Emilie et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2018 Jan -
Apolipoprotein E variants and genetic susceptibility to combat-related post-traumatic stress disorder: a meta-analysis.
Roby Yang et al. Psychiatric genetics 2017 Aug 27(4) 121-130 -
Making pretest genomic counseling optional: lessons from the RAVE study.
Sutton Erica J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb
Ethics/Policy/Law
-
Is It Ethical to Test Apparently "Healthy" Children for Autosomal Dominant Polycystic Kidney Disease and Risk Medicalizing Thousands?
Harris Tess et al. Frontiers in pediatrics 2017 5291 -
Reconsidering the duty to warn genetically at-risk relatives.
Rothstein Mark A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb -
Outer Limits of Biotechnologies: A Jewish Perspective.
Loike John D et al. Rambam Maimonides medical journal 2018 Jan 9(1) -
A search for insomnia genes involving 1.3 million people is the largest genetic study ever
A Regalado, MIT Tech Review, Feb 2,2018
Practice
-
Is "Precision Medicine" Ready to Use in Primary Care Practice? No: It Is Barely Ready for Testing.
Prasad Vinay, et al. American family physician 2017 12 0. (12) 769-770 -
Introduction to the Special Issue on Clinical and Public Health Genomics: Opportunities for translational behavioral medicine research, practice, and policy.
Graves Kristi D et al. Translational behavioral medicine 2018 Jan 8(1) 4-6 -
The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study.
Allen Caitlin G et al. Translational behavioral medicine 2018 Jan 8(1) 105-112 -
The research participant perspective related to the conduct of genomic cohort studies: A systematic review of the quantitative literature.
Goodman Deborah et al. Translational behavioral medicine 2018 Jan 8(1) 119-129 -
Social and behavioral science priorities for genomic translation.
Koehly Laura M et al. Translational behavioral medicine 2018 Jan 8(1) 137-143 -
Growing Pains
K Stoll, DNA Exchange, Feb 2, 2018 -
On the importance of engaging both scientists and our communities in spreading awareness of personalized genetic technologies
Genes to Genomes, Feb 7, 2018 -
Role of genetic polymorphism in nutritional supplementation therapy in personalized medicine.
Penes Nicolae Ovidiu et al. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2017 58(1) 53-58 -
Judging DNA Day Essay Submissions: A Look Inside the Process
ASHG Blog Post, Feb 8, 2018 -
Personal Genome Project Canada Makes Case for WGS in Healthcare
Clinical Omics, Feb 5, 2018 -
Is "Precision Medicine" Ready to Use in Primary Care Practice? Yes: It Offers Patients More Individualized Ways of Managing Their Health.
Feero W Gregory, et al. American family physician 2017 12 0. (12) 767-768 -
Sequencing Human Genome with Pocket-Sized "Nanopore" Device
NIH Director's blog, Feb 6, 2018 -
Cloud computing for genomic data analysis and collaboration.
Langmead Ben et al. Nature reviews. Genetics 2018 Jan -
Translation research to apply genomics to improve health promotion: Is it worth the investment?
McBride Colleen M et al. Translational behavioral medicine 2018 Jan 8(1) 54-58 -
Data and medicine: A revolution in health care is coming- Welcome to Doctor You
The Economist, Feb 1, 2018 -
Moving knowledge into action for more effective practice, programmes and policy: protocol for a research programme on integrated knowledge translation.
Graham Ian D, et al. Implementation science : IS 2018 2 0. (1) 22 -
Cracks in the code: Why mapping your DNA may be less reliable than you think
C Abraham, the Globe and Mail, Feb 3, 2018 -
Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.
Tsui Nancy B Y et al. Scientific reports 2018 Jan 8(1) 1853 -
What Does Personalized Medicine Really Mean?
L Esposito, US News, Jan 26, 2018 -
Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey.
Hickey Kathleen T et al. Nurse education today 2018 Jan 6312-17 -
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
Ardui Simon et al. Nucleic acids research 2018 Feb -
Future perspectives of genome-scale sequencing.
Steyaert Wouter et al. Acta clinica Belgica 2018 Feb 73(1) 7-10 -
Effect of co-payment on behavioral response to consumer genomic testing.
Liu Wendy et al. Translational behavioral medicine 2018 Jan 8(1) 130-136 -
Precision medicine in the treatment of primary immunodeficiency diseases.
Leiding Jennifer W et al. Current opinion in allergy and clinical immunology 2018 Feb
Heart, Lung, Blood and Sleep Diseases
-
February is American Heart Month
-
A comparative analysis of phenotypic predictors of mutations in familial hypercholesterolemia.
Chan Dick C et al. The Journal of clinical endocrinology and metabolism 2018 Feb -
Lessons from ten years of genome-wide association studies of asthma.
Vicente Cristina T et al. Clinical & translational immunology 2017 Dec 6(12) e165 -
Casey's Story A Family History of Heart Disease
the FH Foundation, Jan 2018 -
Lipoprotein profile assessed by 2D-1H-NMR and subclinical atherosclerosis in children with familial hypercholesterolaemia.
Rodríguez-Borjabad Cèlia et al. Atherosclerosis 2018 Jan 270117-122 -
Heart disease risk information, encouragement, and physical activity among Mexican-origin couples: Self- or spouse-driven change?
Skapinsky Kaley F et al. Translational behavioral medicine 2018 Jan 8(1) 95-104 -
How to Control Asthma with Personalized Management: Where Do We Stand Now?
Wang Meng et al. Current drug metabolism 2018 Jan -
A 3-gene panel improves the prediction of left ventricular dysfunction after acute myocardial infarction.
Boileau Adeline et al. International journal of cardiology 2018 Mar 25428-35 -
Lomitapide in homozygous familial hypercholesterolemia: cardiology perspective from a single-center experience.
Sperlongano Simona et al. Journal of cardiovascular medicine (Hagerstown, Md.) 2018 Mar 19(3) 83-90 -
The cost-effectiveness of screening strategies for familial hypercholesterolaemia in Poland.
Pelczarska Aleksandra et al. Atherosclerosis 2018 Jan 270132-138 -
Familial hypercholesterolemia: experience from France.
Rabès Jean-Pierre et al. Current opinion in lipidology 2018 Jan -
Disclosure of Cardiac Variants of Uncertain Significance Results in an Exome Cohort.
Lawal T A et al. Clinical genetics 2018 Jan -
Asthma in children: Working together to get it under control
CDC Vital Signs, Feb 2018 -
Impact of family history of coronary artery disease on in-hospital clinical outcomes in ST-segment myocardial infarction.
Agarwal Manyoo A et al. Annals of translational medicine 2018 Jan 6(1) 3 -
An Evaluation of the Cost-effectiveness of Comprehensive MTM Integrated with Point-of-Care Phenotypic and Genetic Testing for U.S. Elderly Patients After Percutaneous Coronary Intervention.
Okere Arinze Nkemdirim et al. Journal of managed care & specialty pharmacy 2018 Feb 24(2) 142-152 -
CYP2C19 and ABCB1 genetic polymorphisms correlate with the recurrence of ischemic cardiovascular adverse events after clopidogrel treatment.
Hou Xumin et al. Journal of clinical laboratory analysis 2018 Feb -
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo Roberta et al. American journal of hematology 2018 Feb -
An update on new and emerging therapies for cystic fibrosis.
Hudock Kristin M et al. Expert opinion on emerging drugs 2017 Dec 22(4) 331-346
Newborn Screening
-
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30 -
Shared decision making: Implications for return of results from whole-exome and whole-genome sequencing.
Vadaparampil Susan T et al. Translational behavioral medicine 2018 Jan 8(1) 80-84 -
Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.
Maurel C et al. Molecular neurobiology 2018 Jan -
A comparison of views regarding the use of de-identified data.
Goodman Deborah et al. Translational behavioral medicine 2018 Jan 8(1) 113-118
Pharmacogenomics
-
Factors influencing the impact of pharmacogenomic prescribing on adherence to nicotine replacement therapy: A qualitative study of participants from a randomized controlled trial.
Wright Alison J et al. Translational behavioral medicine 2018 Jan 8(1) 18-28 -
Pharmacokinetic and pharmacodynamic re-evaluation of a genetic-guided warfarin trial.
Zambon Carlo Federico et al. European journal of clinical pharmacology 2018 Feb -
Pharmacoeconomics of genotyping-based treatment decisions in patients with chronic pain.
Morlock Robert et al. Pain reports 2017 Sep 2(5) e615 -
A brief review of the genetics and pharmacogenetics of opioid use disorders.
Berrettini Wade et al. Dialogues in clinical neuroscience 2017 Sep 19(3) 229-236 -
Estimating cost savings of pharmacogenetic testing for depression in real-world clinical settings.
Maciel Alejandra et al. Neuropsychiatric disease and treatment 2018 14225-230 -
CDC Rx Awareness Campaign
-
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy.
Goetz Matthew P et al. Clinical pharmacology and therapeutics 2018 Jan -
New international practice guidelines for tamoxifen treatment based on CYP2D6 genotype
Mayo Clinic, Feb 2018 -
P450 Pharmacogenetics in Indigenous North American Populations.
Henderson Lindsay M et al. Journal of personalized medicine 2018 Feb 8(1) -
Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.
Phillips Elizabeth J et al. Clinical pharmacology and therapeutics 2018 Feb -
From pharmacogenomics to pharmaco-omics - individualized care for every patient
S Rosen, Mayo Clinic, Individualized Medicine Blog, 2017 -
Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine.
Brown Sherry-Ann et al. Journal of personalized medicine 2018 Jan 8(1)
Reproductive Health
-
Effect of knowledge on women's likely uptake of and willingness to pay for non-invasive test (NIPT).
Lo Tsz-Kin et al. European journal of obstetrics, gynecology, and reproductive biology 2018 Jan -
Exome and genome sequencing in reproductive medicine.
Normand Elizabeth A et al. Fertility and sterility 2018 Jan