Publication Date: Feb 22, 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
- Why We Screen for Down Syndrome Anyway
Genome Magazine, Jan 2018 - Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Dillon Oliver James et al. European journal of human genetics : EJHG 2018 Feb - Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain Gregory et al. European journal of human genetics : EJHG 2018 Feb - Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Oyrer Julia et al. Pharmacological reviews 2018 Jan 70(1) 142-173 - Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
Bahamat Abeer A et al. Cytogenetic and genome research 2018 Feb - Effective screening leads to better outcomes in sickle cell disease.
Shook Lisa M et al. Archives of disease in childhood 2018 Feb - Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.
Mackley Michael P et al. European journal of human genetics : EJHG 2018 Feb - Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results.
Werner-Lin Allison et al. American journal of medical genetics. Part A 2018 Mar 176(3) 578-588 - Neonatal epilepsy genetics.
Axeen Erika J T et al. Seminars in fetal & neonatal medicine 2018 Jan - Autism Shares Brain Signature with Schizophrenia and Bipolar Disorder- Gene expression patterns in the brains of people with these conditions, new research finds
Scientific American, Feb 8, 2018 - Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek J C et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2018 Feb - Twin Sisters Share a Diagnosis - Tay-Sachs Disease - and a Desire to Make a Difference
Mayo Clinic Blog, Jan 2018 - What Works When You Need to Crowdfund for Sequencing
Rare Daily, Feb 2018
Cancer
- Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin Mev et al. BMC medical genetics 2018 Feb 19(1) 26 - Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience.
Rust Kelly et al. BJOG : an international journal of obstetrics and gynaecology 2018 Feb - No Mutation Left Behind: The Impact of Reporting Recurrent Genetic Abnormalities on Outcomes of Patients with Acute Myeloid Leukemia.
Brunner Andrew M et al. Acta haematologica 2018 Feb 139(2) 128-130 - A study of association of Oncotype DX recurrence score with DCE-MRI characteristics using multivariate machine learning models.
Saha Ashirbani et al. Journal of cancer research and clinical oncology 2018 Feb - Perceptions about screening for prostate cancer using genetic lifetime risk assessment: a qualitative study.
Kirkegaard Pia et al. BMC family practice 2018 Feb 19(1) 32 - Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk.
Willis Amanda M et al. Journal of genetic counseling 2018 Feb - Does oophorectomy reduce breast cancer mortality for BRCA mutation carriers after breast cancer?
Jacobson Michelle et al. Expert review of anticancer therapy 2018 Feb - Family History and Breast Cancer Risk Among Older Women in the Breast Cancer Surveillance Consortium Cohort.
Braithwaite Dejana et al. JAMA internal medicine 2018 Feb - Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
West Allison H et al. Familial cancer 2018 Feb - The Perils of Single-Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next-Generation Sequencing.
Casasanta Nicole et al. The oncologist 2018 Feb - Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations.
Rebbeck Timothy R et al. Human mutation 2018 Feb - Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors.
Jeon Jihyoun et al. Gastroenterology 2018 Feb - Incidence, Survival, and Risk Factors for Adults with Acute Myeloid Leukemia Not Otherwise Specified and Acute Myeloid Leukemia with Recurrent Genetic Abnormalities: Analysis of the Surveillance, Epidemiology, and End Results (SEER) Database, 2001-2013.
Song Xiaolu et al. Acta haematologica 2018 Feb 139(2) 115-127 - Enhancing decision-making about adjuvant chemotherapy in early breast cancer following EndoPredict testing.
Fallowfield Lesley et al. Psycho-oncology 2018 Feb - Validating a breast cancer score in Spanish women. The MCC-Spain study.
Dierssen-Sotos Trinidad et al. Scientific reports 2018 Feb 8(1) 3036 - Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer.
Grant Robert C et al. Journal of genetic counseling 2018 Feb - Patient-Centered Care in Breast Cancer Genetic Clinics.
Brédart Anne et al. International journal of environmental research and public health 2018 Feb 15(2) - Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.
Soto José Luis et al. Medicina clinica 2018 Feb - Women with hereditary breast cancer predispositions should avoid using their smartphones, tablets, and laptops at night.
Mortazavi Seyed Ali Reza et al. Iranian journal of basic medical sciences 2018 Feb 21(2) 112-115 - Doctors Said Immunotherapy Would Not Cure Her Cancer. They Were Wrong.
G Kolata, NY Times, Feb 19, 2018 - Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing.
Lorans Marie et al. Clinical colorectal cancer 2018 Jan - Genetic Testing for Hereditary Breast Cancer: The Decision to Decline.
White V Brook et al. The American surgeon 2018 Jan 84(1) 154-160 - Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
Eng Kevin H et al. PLoS genetics 2018 Feb 14(2) e1007194 - Challenging Standard-of-Care Paradigms in the Precision Oncology Era.
Subbiah Vivek et al. Trends in cancer 2018 Feb 4(2) 101-109 - Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
Freitas Ana Catarina et al. Ecancermedicalscience 2018 12804 - Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices
Toland AE, et al. Genetics in Medicine, Feb 15 2018
Chronic Disease
- The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease.
Holman Melissa A et al. Journal of genetic counseling 2018 Feb - Genomic screening for monogenic forms of diabetes.
Biesecker Leslie G et al. BMC medicine 2018 Feb 16(1) 25 - Effect of Low-Fat vs Low-Carbohydrate Diet on 12-Month Weight Loss in Overweight Adults and the Association With Genotype Pattern or Insulin Secretion-The DIETFITS Randomized Clinical Trial
CD Gardner et al, JAMA, Feb 20, 2018 - The daunting polygenicity of mental illness: making a new map.
Hyman Steven E et al. Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2018 Mar 373(1742) - National ALS Biorepository
Ethical, Legal and Social Issues (ELSI)
- A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.
Turbitt Erin et al. European journal of human genetics : EJHG 2018 Feb - Incidental inequity.
Nowak Kristen J et al. European journal of human genetics : EJHG 2018 Feb - Ethical quandaries around expanded carrier screening in third-party reproduction.
Mertes Heidi et al. Fertility and sterility 2018 Feb 109(2) 190-194 - Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening.
van der Burg Simone et al. Bioethics 2018 Mar 32(3) 171-183 - Genetic Testing between Private and Public Interests: Some Legal and Ethical Reflections.
Sándor Judit et al. Frontiers in public health 2018 68
General Practice
- Whole genome sequencing in the clinic: empowerment or too much information?
Berberich Amanda J et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Feb 190(5) E124-E125 - Patients' Attitudes Towards the Return of Incidental Findings After Research with Residual Tissue: A Mixed Methods Study.
Vermeulen Eric et al. Genetic testing and molecular biomarkers 2018 Feb - The Forefront of Genomics
Watch a video from the National Human Genome Research Institute, Feb 2018 - Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.
Schmidlen Tara et al. Journal of genetic counseling 2018 Feb - Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Schwarze Katharina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb - Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Schwarze Katharina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb - The Dubious Science of Genetics-Based Dating
J Mansky, Smithsonian Magazine, Feb 14, 2018 - Matching DNA to a diet doesn't work: 'We didn't even come close,' researcher says
S Begley, Stat News, Feb 20, 2018 - Direct-to-consumer genetic tests at an all-time high… but how can healthcare professionals be equipped to support patients who are worried and distressed about their results?
Genomics Education UK, Feb 20, 2018 - Genomics and Health Disparities Lecture Series- Exploring the Role of Genomics in Achieving Health Equality
NHGRI, 2018 - 1 in 25 Americans Have Access to Personal Genetic Data
Frontline Genomics, Feb 2018 - Forecasts of genetic fate just got a lot more accurate
A Regalado, MIT Tech Review, Feb 21, 2018 - APPLaUD: access for patients and participants to individual level uninterpreted genomic data.
Thorogood Adrian et al. Human genomics 2018 Feb 12(1) 7 - Academic medical centers as innovation ecosystems to address population -omics challenges in precision medicine.
Silva Patrick J et al. Journal of translational medicine 2018 Feb 16(1) 28 - A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.
Morales Joannella et al. Genome biology 2018 Feb 19(1) 21 - Leveraging the Learning Health Care Model to Improve Equity in the Age of Genomic Medicine.
Blizinsky Katherine D et al. Learning health systems 2018 Jan 2(1) - Genetic Diagnostics for Neurologists.
Silveira-Moriyama Laura et al. Continuum (Minneapolis, Minn.) 2018 Feb 24(1, Child Neurology) 18-36 - Awareness and attitude of the public toward personalized medicine in Korea.
Lee Iyn-Hyang et al. PloS one 2018 13(2) e0192856 - Review of Statistical Methods for Gene-Environment Interaction Analysis
SS Han et al, Curr Epi Reports, Feb 2018
Heart, Lung, Blood and Sleep Diseases
- Genetic determinants of heart failure: facts and numbers.
Czepluch Frauke S et al. ESC heart failure 2018 Feb - Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
Scotet Virginie et al. BMC pregnancy and childbirth 2018 Feb 18(1) 53 - Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Verhagen Judith M A et al. International journal of cardiology 2018 Feb - Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.
Setia Nitika et al. Indian journal of pediatrics 2018 Feb - American Heart Association Precision Medicine Platform.
Kass-Hout Taha A et al. Circulation 2018 Feb 137(7) 647-649 - CRISPR could end sickle cell disease, but signing up black patients for clinical trials will be a hard sell
UL McFarling, Stat News, Feb 21, 2018 - Proprotein Convertase Subtilisin-Kexin type-9 (PCSK9) and triglyceride-rich lipoprotein metabolism: Facts and gaps.
Baragetti Andrea et al. Pharmacological research 2018 Feb 1301-11 - Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Cardiovascular Diseases: A Literature Review.
Fiatal Szilvia et al. Frontiers in public health 2017 5358 - Prescribing Patterns of Proprotein Convertase Subtilisin-Kexin Type 9 Inhibitors in Eligible Patients with Clinical Atherosclerotic Cardiovascular Disease or Heterozygous Familial Hypercholesterolemia
DG Karalis et al, Am J Cardio, Feb 2018
Pharmacogenomics
- Pharmacogenetic information in clinical guidelines - the European perspective.
Swen Jesse J et al. Clinical pharmacology and therapeutics 2018 Feb - Research directions in the clinical implementation of pharmacogenomics - An Overview of US programs and projects.
Volpi Simona et al. Clinical pharmacology and therapeutics 2018 Feb - Implementing pharmacogenomics decision support across seven European countries: The Ubiquitous Pharmacogenomics (U-PGx) project.
Blagec Kathrin et al. Journal of the American Medical Informatics Association : JAMIA 2018 Feb - Economics of Pharmacogenetic-Guided Treatments: Underwhelming or Overstated?
Hughes Dyfrig A et al. Clinical pharmacology and therapeutics 2018 Feb
Reproductive Health
- From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.
Monni Giovanni et al. Journal of clinical medicine 2018 Feb 7(2) - Clinical Management of Women with Monogenic Diabetes During Pregnancy.
Dickens Laura T et al. Current diabetes reports 2018 Feb 18(3) 12 - Expanded carrier screening: what the reproductive endocrinologist needs to know.
Dungan Jeffrey et al. Fertility and sterility 2018 Feb 109(2) 183-189 - Whole Exome Sequencing: Applications in Prenatal Genetics.
Jelin Angie C et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 69-81 - Is it time to move towards non-invasive prenatal screening for Down syndrome and screening for pre-eclampsia?
Wang Rui et al. BJOG : an international journal of obstetrics and gynaecology 2018 Mar 125(4) 397-398 - Expanded Carrier Screening.
Gregg Anthony R et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 103-112 - Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.
Brison Nathalie et al. Prenatal diagnosis 2018 Jan
Tools/Databases
- Multiplexed and portable nucleic acid detection platform with Cas13, Cas12a, and Csm6.
Gootenberg Jonathan S et al. Science (New York, N.Y.) 2018 Feb
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.
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