Publication Date: May 31, 2018
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Lee Jin Sook et al. Annals of laboratory medicine 2018 Sep 38(5) 473-480
Cancer
- A method to measure clinical practice patterns of breast cancer genomic diagnostics in health systems.
Atehortua Nelson A et al. Personalized medicine 2012 Aug 9(6) 585-592 - Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.
Kurian Allison W et al. JAMA oncology 2018 May - Gene expression profiling in prognosis of distant recurrence in HR-positive and HER2-negative breast cancer patients.
Huang Tzu-Ting et al. Oncotarget 2018 May 9(33) 23173-23182 - The Role of Interleukin-31 Polymorphisms in Non-Small Cell Lung Cancer Genetic Susceptibility and Clinical Outcome.
Yang Yongfeng et al. Genetic testing and molecular biomarkers 2018 May 22(5) 314-319 - BRCA Mutations in the Young, High-Risk Female Population: Genetic Testing, Management of Prophylactic Therapies, and Implications for Plastic Surgeons.
Salibian Ara A et al. Plastic and reconstructive surgery 2018 Jun 141(6) 1341-1350 - Protocol for M 3 P: A Comprehensive and Clinical Oriented Targeted Sequencing Panel for Routine Molecular Analysis in Multiple Myeloma.
Barrio Santiago et al. Methods in molecular biology (Clifton, N.J.) 2018 1792117-128 - Analysis of Global Gene Expression Profiles.
Kassambara Alboukadel et al. Methods in molecular biology (Clifton, N.J.) 2018 1792157-166 - Concurrent risk-reduction surgery in patients with increased lifetime risk for breast and ovarian cancer: an analysis of the National Surgical Quality Improvement Program (NSQIP) database.
Elmi Maryam et al. Breast cancer research and treatment 2018 May - Systematic Functional Annotation of Somatic Mutations in Cancer.
Ng Patrick Kwok-Shing et al. Cancer cell 2018 Mar 33(3) 450-462.e10 - One gene - many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.
Yehia Lamis et al. Endocrine-related cancer 2018 May - PARP Inhibitor Shows Promise in Patients With BRCA-Mutated Pancreatic Cancer
ASCO Post, May 23, 2018 - Science Saturday: Arresting melanoma’s molecular drivers
D Sparks, Mayo Clinic, May 26, 2018 - Interest and Uptake of MC1R Testing for Melanoma Risk in a Diverse Primary Care Population: A Randomized Clinical Trial.
Hay Jennifer L et al. JAMA dermatology 2018 May - Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2-Reply.
King Mary-Claire et al. JAMA oncology 2018 May - Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
Narod Steven et al. JAMA oncology 2018 May - Association of patient navigation with care coordination in an Lynch syndrome screening program.
Miesfeldt Susan et al. Translational behavioral medicine 2018 May 8(3) 450-455 - Did This Botched Patient Have an "Unnecessary Double Mastectomy?!"
M Khalife, E-Online, May 29, 2018 - Colorectal cancer screening for average risk adults: 2018 guideline update from the American Cancer Society
MD Andrew et al, Cancer, May 30, 2018
Chronic Disease
- Existing and novel biomarkers for precision medicine in systemic sclerosis.
Wermuth Peter J et al. Nature reviews. Rheumatology 2018 May - "Biomarking" the transition from genetic risk to kidney disease.
Kruzel-Davila Etty et al. Kidney international 2018 Jun 93(6) 1270-1272 - Plasma biomarkers are associated with renal outcomes in individuals with APOL1 risk variants.
Nadkarni Girish N et al. Kidney international 2018 Jun 93(6) 1409-1416 - Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
Di Fonzo Alessio et al. Current neurology and neuroscience reports 2018 May 18(7) 37 - Schizophrenia ‘risk genes’ are not so risky if the mother’s pregnancy was healthy
S Begley, Stat News, May 28, 2018 - The first DNA-based genetic test: Huntington’s Disease
E Amsen, TGMI, May 25, 2018 - Genes, Environment and Schizophrenia: The Placenta is the Missing Link
Frontline Genomics, May 29, 2018
Ethical, Legal and Social Issues (ELSI)
- "It's our DNA, we deserve the right to test!" A content analysis of a petition for the right to access direct-to-consumer genetic testing.
Su Yeyang et al. Personalized medicine 2013 Sep 10(7) 729-739
General Practice
- Implementation of a patient-facing genomic test report in the electronic health record using a web-application interface.
Williams Marc S et al. BMC medical informatics and decision making 2018 May 18(1) 32 - Translational -omics: Future potential and current challenges in precision medicine.
Wafi Arsalan et al. Methods (San Diego, Calif.) 2018 May - Identical Twins Hint at How Environments Change Gene Expression
Studying twins has long offered insight into the interplay of nature and nurture. Epigenetics is the next frontier. E Hayasaki, The Atlantic, May 2018 - Secondary findings in exome slices, virtual panels, and anticipatory sequencing.
Biesecker Leslie G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May - More than an information service: are counselling skills needed by genetics professionals in the genomic era?
Skirton Heather et al. European journal of human genetics : EJHG 2018 May - Grandma’s trauma – a critical appraisal of the evidence for transgenerational epigenetic inheritance in humans
K Mitchell, Wiring the Brain, May 29, 2018 - Submit a Suggestion for a New Evidence Review,
AHRQ, May 2018 - How Accurate Is Direct-To-Consumer Genetic Testing? From Gold(ish) To Garbage
E Matloff, Forbes, May 2018 - The Role of Libraries in Precision Health,
Eric Dishman delivers the 2018 Leiter Lecture, NIH, May 29, 2018 - Are You a Future Genetic Counselor?
E Ramos, Color Blog, May 29, 2018 - QALYs in 2018—Advantages and Concerns
PJ Neumann et al, JAMA, May 2018 - DNA donors must demand stronger protection for genetic privacy
M Marks, et al, Stat News, May 30, 2018 - Big Data and Predictive Analytics: Recalibrating Expectations
ND Shah et al, JAMA, May 29, 2018 - An open-source, integrated pedigree data management and visualization tool for genetic epidemiology.
Ranaweera Thilina et al. International journal of epidemiology 2018 Apr - Routine DNA Screening Moves Into Primary Care
M Andrews, NPR, May 22, 2018 - Scalable, Updating Return of Genetic Test Results from 2018 Forward
E Matloff, My Gene Counsel, May 2018 - Genomics Disparities Twitter Chat:
NASEM Rountable on Genomics and Precision Health, June 21,2018
Heart, Lung, Blood and Sleep Diseases
- Atherosclerotic Cardiovascular Disease in South Asians in the United States: Epidemiology, Risk Factors, and Treatments: A Scientific Statement From the American Heart Association.
Volgman Annabelle Santos et al. Circulation 2018 May - Estimated costs of hospitalization due to coronary artery disease attributable to familial hypercholesterolemia in the Brazilian public health system.
Bahia Luciana R et al. Archives of endocrinology and metabolism 2018 May - Basic vs More Complex Definitions of Family History in the Prediction of Coronary Heart Disease: The Multi-Ethnic Study of Atherosclerosis.
Patel Jaideep et al. Mayo Clinic proceedings 2018 Mar - Our Journey and Destination
The FH Foundation, May 2018 - Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association.
Musunuru Kiran et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e000046
Newborn Screening
- 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 2017 Oct
Pharmacogenomics
- A Pharmacokinetic and Pharmacogenetic Analysis of Osteosarcoma Patients Treated With High-Dose Methotrexate: Data From the OS2006/Sarcoma-09 Trial.
Lui Gabrielle et al. Journal of clinical pharmacology 2018 May - The Role of Pharmacogenomics in Bipolar Disorder: Moving Towards Precision Medicine.
Pisanu Claudia et al. Molecular diagnosis & therapy 2018 May - Systematic evaluation of clinical practice guidelines for pharmacogenomics.
Beckett Robert D et al. Pharmacogenomics 2018 Jun 19(8) 693-700 - Professional opportunity for pharmacists to integrate pharmacogenomics in medication therapy.
Cohn Iris et al. Canadian pharmacists journal : CPJ = Revue des pharmaciens du Canada : RPC 151(3) 167-169 - Projected impact of a multigene pharmacogenetic test to optimize medication prescribing in cardiovascular patients.
Dong Olivia M et al. Pharmacogenomics 2018 May - Genetic profiling in acute myeloid leukemia: a path to predicting treatment outcome.
Visani Giuseppe et al. Expert review of hematology 2018 May 1-7 - Pharmacogenomics in liver transplantation: testing the recipient and the ex-vivo donor liver.
Kisor David F et al. Pharmacogenomics 2018 Jun 19(9) 753-756 - On the Marketing and Use of Pharmacogenetic Tests for Psychiatric Treatment.
Zubenko George S et al. JAMA psychiatry 2018 May - AMCP Partnership Forum: Managing Care in the Wave of Precision Medicine.
et al. Journal of managed care & specialty pharmacy 2018 May 1-6
Reproductive Health
- Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson Michelle L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr - What’s in your genome? Parents-to-be want to know
The Conversation, May 24, 23018 - Preimplantation genetic testing of Robertsonian translocation by SNP array-based preimplantation genetic haplotyping.
Wang Jing et al. Prenatal diagnosis 2018 May
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
.png)
No hay comentarios:
Publicar un comentario