Published on 10/19/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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The accuracy of hospital ICD-9-CM codes for determining Sickle Cell Disease genotype.
Snyder Angela B, et al. Journal of rare diseases research & treatment 2017 0 0. (4) 39-45 -
Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen Cleo C et al. Pediatrics 2017 Oct 140(4) -
Maternal Social Disadvantage and Newborn Telomere Length in Archived Dried Blood Spots from the Michigan Neonatal Biobank.
Needham Belinda L et al. Biodemography and social biology 2017 63(3) 221-235 -
Genetics, hormonal influences, and pretertm birth.
Rood Kara M et al. Seminars in perinatology 2017 Sep -
Progress in rare diseases research 2010-2016: an IRDiRC perspective.
Dawkins Hugh Js et al. Clinical and translational science 2017 Aug -
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau Alban-Elouen et al. Nature reviews. Cardiology 2017 Sep -
False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use.
Hayeems Robin Z et al. Pediatrics 2017 Oct -
Recommendations for collaborative paediatric research including biobanking in Europe: a Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) initiative.
Kuemmerle-Deschner Jasmin B et al. Annals of the rheumatic diseases 2017 Oct -
Family History Collection Practices: National Survey of Pediatric Primary Care Providers.
Tarini Beth A et al. Clinical pediatrics 2017 Oct 9922817733693 -
FDA Panel Endorses Gene Therapy For A Form Of Childhood Blindness
R Stein, NPR, All Things Considered, Oct 12, 2017 -
FDA Vote Sets Stage for Gene Therapy's Future
E Mullin, Technology Review, Oct 12, 2017
Cancer
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5 Things to Know about BRCA Mutations and Pancreatic Cancer
Pancreatic Cancer Action Network, October 12, 2017 -
A Window Into Clinical Next-Generation Sequencing-Based Oncology Testing Practices.
Nagarajan Rakesh et al. Archives of pathology & laboratory medicine 2017 Oct -
Next-Generation Sequencing from Liquid Biopsies in Lung Cancer Patients: Advances in Comprehensive Biomarker Testing.
Sholl Lynette M et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Oct 12(10) 1464-1466 -
Utilization of individualized prostate cancer and genomic biomarkers for the practicing urologist.
McMahon Gregory C et al. Reviews in urology 2017 19(2) 97-105 -
F.D.A. Approves Second Gene-Altering Treatment for Cancer
D Grady, New York Times, Oct 18, 2017 -
Cost-effectiveness of surveillance and prevention strategies in BRCA1/2 mutation carriers.
Yamauchi Hideko et al. Breast cancer (Tokyo, Japan) 2017 Oct -
Tumor DNA Sequencing in Cancer Treatment
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Prognostic value of genetic mutations in adolescent and young adults with acute myeloid leukemia.
Kuwatsuka Yachiyo et al. International journal of hematology 2017 Oct -
Key differences between 13 KRAS mutation detection technologies and their relevance for clinical practice.
Sherwood James L et al. ESMO open 2017 2(4) e000235 -
Evidence for Genetic Risk Contributing to Long-Term Adverse Treatment Effects in Childhood Cancer Survivors.
Gramatges Maria Monica et al. Annual review of medicine 2017 Oct -
Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study.
Mella Sara et al. Hereditary cancer in clinical practice 2017 1516 -
Cost-effectiveness of Gene Expression Classifier Testing of Indeterminate Thyroid Nodules Utilizing a Real Cohort Comparator.
Shapiro Scott et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2017 Oct 157(4) 596-601 -
Concordance between Comprehensive Cancer Genome Profiling in Plasma and Tumor Specimens.
Müller Judith N et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Oct 12(10) 1503-1511 -
Preclinical therapeutic efficacy of a novel blood-brain barrier-penetrant dual PI3K/mTOR inhibitor with preferential response in PI3K/PTEN mutant glioma.
Koul Dimpy et al. Oncotarget 2017 Mar 8(13) 21741-21753 -
Profile of the Roche cobas® EGFR mutation test v2 for non-small cell lung cancer.
Malapelle Umberto et al. Expert review of molecular diagnostics 2017 Mar 17(3) 209-215 -
Cost-effectiveness of IDH testing in diffuse gliomas according to the 2016 WHO classification of tumors of the central nervous system recommendations.
DeWitt John C et al. Neuro-oncology 2017 Jun -
HSD3B1-A Predictive Biomarker in Advanced Prostate Cancer.
Hahn Andrew W, et al. JAMA oncology 2018 4 0. (4) 562-563 -
How are Multifactorial Beliefs about the Role of Genetics and Behavior in Cancer Causation associated with Cancer Risk Cognitions and Emotions in the U.S. Population?
Hamilton Jada G et al. Psycho-oncology 2017 Oct -
Facilitating decision-making in women undergoing genetic testing for hereditary breast cancer: BRECONDA randomized controlled trial results.
Sherman Kerry A et al. Breast (Edinburgh, Scotland) 2017 Oct 3679-85 -
Correlating Ki67 and other prognostic markers with Oncotype DX recurrence score in early estrogen receptor-positive breast cancer.
Tan Aaron C et al. Asia-Pacific journal of clinical oncology 2017 Sep -
Outcome of elevated CA125 values from primary care following implementation of ovarian cancer guidelines.
Crawford S Michael et al. Family practice 2017 Sep -
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2.
Eoh Kyung Jin et al. Cancer research and treatment : official journal of Korean Cancer Association 2017 Sep -
Faulty BRCA1, BRCA2 genes: how poor is the prognosis?
O'Quigley John et al. Annals of epidemiology 2017 Sep
Chronic Disease
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Ethnic and population differences in the genetic predisposition to human obesity.
Stryjecki C et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2017 Oct -
Disclosure of personalized rheumatoid arthritis risk using genetics, biomarkers, and lifestyle factors to motivate health behavior improvements:A randomized controlled trial.
Sparks Jeffrey A et al. Arthritis care & research 2017 Oct -
Precision medicine in asthma: linking phenotypes to targeted treatments.
Chung Kian F et al. Current opinion in pulmonary medicine 2017 Oct -
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi Ebun et al. PloS one 2017 12(7) e0181874 -
The contribution of genetics and environment to obesity.
Albuquerque David et al. British medical bulletin 2017 Sep 123(1) 159-173 -
Genetic aetiology of glycaemic traits: approaches and insights.
Wheeler Eleanor et al. Human molecular genetics 2017 Oct 26(R2) R172-R184 -
Understanding Obesity? Fat Chance!
K Weiss, Mermaid Tale, Oct 15, 2017 -
The clinical utility of human leucocyte antigen B27 in axial spondyloarthritis.
Lim Chong Seng Edwin et al. Rheumatology (Oxford, England) 2017 Sep
Ethics/Policy/Law
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Navigating social and ethical challenges of biobanking for human microbiome research.
Chuong Kim H et al. BMC medical ethics 2017 Jan 18(1) 1 -
Ethical considerations in prenatal testing: Genomic testing and medical uncertainty.
Richardson Anastasia et al. Seminars in fetal & neonatal medicine 2017 Oct -
A review of international coverage and pricing strategies for personalized medicine and orphan drugs.
Degtiar Irina et al. Health policy (Amsterdam, Netherlands) 2017 Sep -
Cousins, Genetic Diagnosis and Liability of Clinicians: Smith & Another v University of Leicester NHS Trust [2016] EWHC 817 (QB).
Fay Michael et al. Medical law review 2017 Jul
Practice
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Human genomics: Cracking the regulatory code.
Ward Michelle C, et al. Nature 2017 0 0. (7675) 190-191 -
"I passed the test!" Evidence of diagnostic misconception in the recruitment of population controls for an H3Africa genomic study in Cape Town, South Africa.
Masiye Francis et al. BMC medical ethics 2017 Feb 18(1) 12 -
NIH completes atlas of human DNA differences that influence gene expression
NIH, October 11, 2017 -
News, Events, & Media from the AllofUs Research Program
NIH, AllofUs Research Program, 2017 -
Precision medicine at the crossroads.
Olson Maynard V, et al. Human genomics 2017 10 0. (1) 23 -
Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling.
Cragun Deborah et al. Journal of genetic counseling 2017 Oct -
Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients.
VandenBoom Emily et al. Journal of genetic counseling 2017 Oct -
Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research.
Viberg Johansson Jennifer et al. Patient education and counseling 2017 Sep -
Personomics: The Missing Link in the Evolution from Precision Medicine to Personalized Medicine.
Ziegelstein Roy C et al. Journal of personalized medicine 2017 Oct 7(4) -
New challenges of public health: bringing the future of personalised healthcare into focus.
Ricciardi Walter et al. European journal of public health 2017 Oct 27(suppl_4) 36-39 -
The price of whole-genome sequencing may be decreasing, but who will be sequenced?
Marshall Deborah A et al. Personalized medicine 2017 May 14(3) 203-211 -
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.
Wei Wei-Qi et al. PloS one 2017 12(7) e0175508 -
Using Cost-Effectiveness Analysis to Quantify the Value of Genomic-Based Diagnostic Tests: Recommendations for Practice and Research.
Spackman Eldon et al. Genetic testing and molecular biomarkers 2017 Oct -
DNA sequencing at 40: past, present and future.
Shendure Jay, et al. Nature 2017 0 0. (7676) 345-353 -
GA4GH Strikes Formal Collaborations with 15 International Genomic Data Initiatives
Global Alliance for Genomics and Health, Oct 15, 2017 -
Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges.
Paternoster Lavinia et al. PLoS genetics 2017 Oct 13(10) e1006944 -
An ace in the hole for DNA sequencing.
Eisenstein Michael, et al. Nature 2017 0 0. (7675) 285-288 -
GA4GH Announces New Strategic Plan, Vision To Create Standards
Bio IT Word, Oct 17, 2017
Heart, Lung, Blood and Sleep Diseases
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Children with hypercholesterolemia of unknown cause: Value of genetic risk scores.
Sjouke Barbara et al. Journal of clinical lipidology 10(4) 851-859 -
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.
Cirino Allison L et al. Circulation. Cardiovascular genetics 2017 Oct 10(5) -
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.
Sedaghat-Hamedani Farbod et al. European heart journal 2017 Oct -
Hypertrophic Cardiomyopathy Gene Testing: Go Big?
Puckelwartz Megan J et al. Circulation. Cardiovascular genetics 2017 Oct 10(5) -
2017 Update of ESC/EAS Task Force on practical clinical guidance for proprotein convertase subtilisin/kexin type 9 inhibition in patients with atherosclerotic cardiovascular disease or in familial hypercholesterolaemia.
Landmesser Ulf, et al. European heart journal 2018 4 0. (14) 1131-1143
Newborn Screening
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Public Attitudes Toward Expanded Newborn Screening.
DeLuca Jane M et al. Journal of pediatric nursing 2017 Oct -
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Kraszewski Jennifer N, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 0. (6) 608-613 -
NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.
Kanegae Marilia Pyles P et al. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 35(1) 25-32
Pharmacogenomics
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Pharmacogenomics of triazole antifungal agents: implications for safety, tolerability and efficacy.
Amsden Jarrett R et al. Expert opinion on drug metabolism & toxicology 2017 Oct -
Pharmacogenomics in the treatment of mood disorders: Strategies and Opportunities for personalized psychiatry.
Amare Azmeraw T et al. The EPMA journal 2017 Sep 8(3) 211-227 -
Association and clinical utility of NAT2 in the prediction of isoniazid-induced liver injury in Singaporean patients.
Chan Sze Ling et al. PloS one 2017 12(10) e0186200 -
Impact of the CYP2C19 genotype on voriconazole exposure in adults with invasive fungal infections.
Hamadeh Issam S et al. Pharmacogenetics and genomics 2017 May 27(5) 190-196 -
Comparison of the Guidelines of the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group.
Bank Pcd et al. Clinical pharmacology and therapeutics 2017 Jun
Reproductive Health
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Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors.
Martin Linda et al. Midwifery 2017 Sep 561-8 -
Cell-free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: a systematic review of economic evaluations.
Nshimyumukiza L et al. Clinical genetics 2017 Oct -
Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives.
Traeger-Synodinos Joanne et al. Expert review of molecular diagnostics 2017 Mar 17(3) 281-291 -
Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies.
Beulen L et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Jun 49(6) 721-728 -
Psychological distress in post-partum women after non-invasive prenatal testing (NIPT) in Japan.
Takeda Eri et al. The journal of obstetrics and gynaecology research 2017 Oct -
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Petersen Andrea K et al. American journal of obstetrics and gynecology 2017 Oct -
Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Oct