Published on 09/07/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang Xuan et al. EBioMedicine 2017 Aug -
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
Krupp Deidre R et al. American journal of human genetics 2017 Aug -
Six Genes Linked With Preterm Births
M Fox, NBC News, Sep 6, 2017 -
Vision Screening in Children Aged 6 Months to 5 Years: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Jonas Daniel E, et al. JAMA 2017 0 0. (9) 845-858 -
Overview of the Genetic Basis and Epigenetic Mechanisms that Contribute to FASD Pathobiology.
Liyanage Vichithra R B et al. Current topics in medicinal chemistry 2017 17(7) 808-828 -
The significance of genetics in pathophysiologic models of premature birth.
Uberos Jose et al. Minerva pediatrica 2017 May -
Vision Screening in Children Aged 6 Months to 5 Years: US Preventive Services Task Force Recommendation Statement.
, et al. JAMA 2017 9 0. (9) 836-844
Cancer
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FDA Approves First CAR-T Cell Therapy for Pediatric Acute Lymphoblastic Leukemia
NIH Director's blog, September, 2p017 -
CAR T Cells: Engineering Patients' Immune Cells to Treat Their Cancers
NIH, August 31, 2017 -
Relevance of Spatial Heterogeneity of Immune Infiltration for Predicting Risk of Recurrence After Endocrine Therapy of ER+ Breast Cancer.
Heindl Andreas et al. Journal of the National Cancer Institute 2018 Feb 110(2) -
Comprehensive genomic profiling in routine clinical practice leads to a low rate of benefit from genotype-directed therapy.
Hilal Talal et al. BMC cancer 2017 Aug 17(1) 602 -
Interim analysis of survival in a prospective, multi-center registry cohort of cutaneous melanoma tested with a prognostic 31-gene expression profile test.
Hsueh Eddy C et al. Journal of hematology & oncology 2017 Aug 10(1) 152 -
Ownership of uncertainty: healthcare professionals counseling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result.
Kenen Regina et al. Genetic testing and molecular biomarkers 2011 Apr 15(4) 243-50 -
Implementation of Surgeon-Initiated Gene Expression Profile Testing (Onco type DX) Among Patients With Early-Stage Breast Cancer to Reduce Delays in Chemotherapy Initiation.
Losk Katya et al. Journal of oncology practice 2017 Aug JOP2017023788 -
Next Generation Sequencing A Novel Approach to Distinguish Multifocal Primary Lung Adenocarcinomas from Intrapulmonary Metastases.
Patel Snehal B et al. The Journal of molecular diagnostics : JMD 2017 Aug -
Genetic testing in women with breast cancer: implications for treatment.
Paterson Robin et al. Expert review of anticancer therapy 2017 Aug -
Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk.
Rahman Belinda et al. Familial cancer 2015 Mar 14(1) 135-44 -
Advances in the molecular genetics of gliomas - implications for classification and therapy.
Reifenberger Guido et al. Nature reviews. Clinical oncology 2017 Jul 14(7) 434-452 -
The BRCA1ness signature is associated significantly with response to PARP inhibitor treatment versus control in the I-SPY 2 randomized neoadjuvant setting.
Severson Tesa M et al. Breast cancer research : BCR 2017 Aug 19(1) 99 -
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
Sunga Annette Y et al. Cancer genetics 2017 Apr 212-2131-7 -
Referral to cancer genetic counseling: do migrant status and patients' educational background matter?
van der Giessen J A M et al. Journal of community genetics 2017 Sep -
IBM pitched its Watson supercomputer as a revolution in cancer care. ItÂ’s nowhere close
C Ross et al, Stat News, Sep 6, 2017 -
Nature, Nurture, and Cancer Risks: Genetic and Nutritional Contributions to Cancer.
Theodoratou Evropi et al. Annual review of nutrition 2017 Aug 37293-320 -
Economic Considerations in the Use of Novel Targeted Therapies for Lung Cancer: Review of Current Literature.
Albaba Hamzeh et al. PharmacoEconomics 2017 Aug -
The Hunt Continues for Early Ovarian Cancer Clues.
Kuehn Bridget M et al. JAMA 2017 Jul 318(1) 14-16 -
Crizotinib Shows Promise for Childhood Cancers
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Proposal for the creation of a national strategy for precision medicine in cancer: a position statement of SEOM, SEAP, and SEFH.
Garrido P et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2017 Aug -
The CDC's Role in the National Cancer Moonshot Initiative
L Richardson, Director, CDC Division of Cancer Control and Prevention -
Cancer's Circulating Secrets
A Bardelli, the Pathologist, August 2017 -
Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK.
Chandrasekaran Dhivya et al. Familial cancer 2015 Dec 14(4) 521-30 -
Cancer patients' intentions towards receiving unsolicited genetic information obtained using next-generation sequencing.
Bijlsma Rhodé M et al. Familial cancer 2017 Aug -
Genetic Ancestry Is not Associated with Breast Cancer Recurrence or Survival in U.S. Latina Women Enrolled in the Kaiser Permanente Pathways Study.
Engmann Natalie J et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Sep 26(9) 1466-1469
Chronic Disease
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'Battling my biology': psychological effects of genetic testing for risk of weight gain.
Meisel S F et al. Journal of genetic counseling 2014 Apr 23(2) 179-86 -
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B et al. Clinical genetics 2017 Sep -
Is telomere length associated with the cognitive response to a lifestyle intervention?
Science Mag, August 30, 2017 -
Identification of individuals by trait prediction using whole-genome sequencing data.
Lippert Christoph, et al. Proceedings of the National Academy of Sciences of the United States of America 2017 0 0. (38) 10166-10171 -
MODY in Ukraine: genes, clinical phenotypes and treatment.
Globa Evgenia et al. Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep -
September is World Alzheimer's Month
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Invited Commentary: Integrating Genomics and Social Epidemiology-Analysis of Late-Life Low Socioeconomic Status and the Conserved Transcriptional Response to Adversity.
Belsky Daniel W, et al. American journal of epidemiology 2017 0 0. (5) 510-513
Ethics/Policy/Law
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Precision medicine: a matter of regulation or collaboration?
Knoppers Bartha Maria et al. Journal of law and the biosciences 2016 Dec 3(3) 687-690 -
Readability of informed consent forms for whole-exome and whole-genome sequencing.
Niemiec Emilia et al. Journal of community genetics 2017 Aug -
Designing a standard of proof: the case for professional standards in next-generation sequencing laboratory-developed tests.
Walker Quinn et al. Journal of law and the biosciences 2017 Apr 4(1) 216-226 -
Falling giants and the rise of gene editing: ethics, private interests and the public good.
Capps Benjamin et al. Human genomics 2017 Aug 11(1) 20
Practice
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Why CRISPR Gene Editing is So Precise
KQED Science, Sep 5, 2017 -
Epidemiology as the scientific foundation for public health genomics
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Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.
Wolf Susan M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 0 0. (5) 545-553 -
Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study.
Landry Latrice et al. Journal of community genetics 2017 Sep -
Interest in and reactions to genetic risk information: The role of implicit theories and self-affirmation.
Taber Jennifer M et al. Social science & medicine (1982) 2017 Aug 190101-110 -
The social utility of clinical exome sequencing.
Timmermans Stefan et al. Patient education and counseling 2017 Aug -
Comparing the ability of OPTION(12) and OPTION(5) to assess shared decision-making in genetic counselling.
Vortel Martina A et al. Patient education and counseling 2016 Oct 99(10) 1717-23 -
Assessment of the impact of shared data on the scientific literature
M Milham et al, BioRxIV, September 4, 2017 -
Geography of Genetics and Genomics Research Funding in Africa.
Coles Eric et al. Global heart 2017 Jun 12(2) 173-176 -
One Test May Spot Cancer, Infections, Diabetes and More-Researchers are starting to diagnose more ailments using DNA fragments found in the blood
K McGowan, Scientific American, September 5, 2017 -
Impact of communicating personalized genetic risk information on perceived control over the risk: a systematic review.
Collins Ruth E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2011 Apr 13(4) 273-7 -
PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories.
Doig Kenneth D et al. Genome medicine 2017 Apr 9(1) 38 -
Information management: Data domination
G Donati et al, Nature, August 30, 2017 -
Why African Genomic Studies Can Solve the Continent's Health Issues
N Ngomi, sci tech connect, July 2017 -
Beyond editing to writing large genomes.
Chari Raj, et al. Nature reviews. Genetics 2017 0 0. (12) 749-760 -
Reaching for the next branch on the biobank tree of knowledge.
Cox Nancy J, et al. Nature genetics 2017 8 0. (9) 1295-1296
Heart, Lung, Blood and Sleep Diseases
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Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study.
Knowles Joshua W et al. Frontiers in cardiovascular medicine 2017 453 -
Can we afford not to screen for FH?
Stoekenbroek Robert M et al. European heart journal 2017 Jun 38(23) 1840-1842 -
The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.
Alallaf Faisal et al. The open cardiovascular medicine journal 2017 1166-75 -
FH and pregnancy
The FH Foundation blog, August 30, 2017
Newborn Screening
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Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
Chong S C et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Sep
Pharmacogenomics
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Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children with Cerebral Palsy.
McLaughlin Matthew J et al. PM & R : the journal of injury, function, and rehabilitation 2017 Aug -
Pharmacogenetics and precision medicine: Is inflammation a covert threat to effective genotype-based therapy?
Shah Rashmi R et al. Therapeutic advances in drug safety 2017 Sep 8(9) 267-272 -
The impact of Fc gamma receptor IIa and IIIa gene polymorphisms on the therapeutic response of rituximab in Egyptian adult immune thrombocytopenic purpura.
Ellithy Hend N et al. Hematology (Amsterdam, Netherlands) 2017 Aug 1-6
Reproductive Health
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Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome.
Kou K O et al. Hong Kong medical journal = Xianggang yi xue za zhi 2016 Jun 22(3) 223-30 -
No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.
Chitayat David et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e380-e394 -
No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.
Audibert Francois et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) 805-817 -
No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies.
Audibert François et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e347-e361 -
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
Dheedene Annelies et al. Prenatal diagnosis 2016 Aug 36(8) 699-707