Publication Date: Aug 30, 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
- Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots.
Shearer A Eliot et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2018 Aug 194599818797291 - Children with GJB2 gene mutations have various audiological phenotypes.
Wang Xianlei et al. Bioscience trends 2018 Aug - Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
Jurkute Neringa et al. European journal of human genetics : EJHG 2018 Aug - Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists.
McDowall F et al. British dental journal 2018 Aug 225(4) 335-339 - Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.
Oseni Ganiyu O et al. Molecular genetics & genomic medicine 2018 Aug - Current and emerging therapies to prevent hereditary angioedema attacks.
Lumry William R et al. The American journal of managed care 2018 Aug 24(14 Suppl) S299-S307 - Severity of hereditary angioedema, prevalence, and diagnostic considerations.
Bernstein Jonathan A et al. The American journal of managed care 2018 Aug 24(14 Suppl) S292-S298 - Just 21 People Are Known to Have This Rare Genetic Condition. Can You Help Us Find More?
L Sanders, New York Times, August, 2018 - Whose Odyssey Is It? Family-Centered Care in the Genomic Era.
Brosco Jeffrey P et al. The Hastings Center report 2018 Jul 48 Suppl 2S20-S22 - Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in South China.
Xia Yu et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018 Aug - Genetic testing in children and adolescents with intellectual disability.
Bass Nick et al. Current opinion in psychiatry 2018 Aug - Candidate genes linking maternal nutrient exposure to offspring health via DNA methylation: a review of existing evidence in humans with specific focus on one-carbon metabolism.
James Philip et al. International journal of epidemiology 2018 Aug
Cancer
- Can Transcriptomics Help Find the Right Time to Administer Chemotherapy?
CM Rey, GEN, August 2018 - Comparison of glioblastoma (GBM) molecular classification methods.
Lee Eunjee et al. Seminars in cancer biology 2018 Jul - This Is How I Told People About My BRCA Diagnosis — And How They Responded
S Altshule, Bustle.com, AUgust 27, 2018 - POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.
Rosner Guy et al. Diseases of the colon and rectum 2018 61(9) 1073-1079 - Imaging Phenotypes in Women at High Risk for Breast Cancer on Mammography, Ultrasound, and Magnetic Resonance Imaging Using the Fifth Edition of the Breast Imaging Reporting and Data System.
Marino Maria Adele et al. European journal of radiology 2018 Sep 106150-159 - A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.
Jenkins Lauren E et al. Dermatology online journal 2018 Jun 24(6) - Companions or patients? The impact of family presence in genetic consultations for inherited breast cancer: Relational autonomy in practice.
Gilbar Roy et al. Bioethics 2018 Jul 32(6) 378-387 - Cancer Molecular Screening and Therapeutics (MoST): a framework for multiple, parallel signal-seeking studies of targeted therapies for rare and neglected cancers.
Thavaneswaran Subotheni et al. The Medical journal of Australia 2018 Aug - Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
Cox Devin M et al. Molecular genetics & genomic medicine 2018 Aug - Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.
Miao Diana et al. Nature genetics 2018 Aug - Early genetic counseling and detection of CDH1 mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer.
Moslim Maitham A et al. Surgery 2018 Aug - Talazoparib for BRCA-mutated advanced breast cancer.
Gunjur Ashray et al. The Lancet. Oncology 2018 Aug - NICE Advice - Prolaris gene expression assay for assessing long-term risk of prostate cancer progression: © NICE (2016) Prolaris gene expression assay for assessing long-term risk of prostate cancer progression.
et al. BJU international 2018 Aug 122(2) 173-180 - OncoKids SM : A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.
Hiemenz Matthew C et al. The Journal of molecular diagnostics : JMD 2018 Aug - Universal Lynch Syndrome Screening Should be Performed in All Upper Tract Urothelial Carcinomas.
Ju Jennifer Y et al. The American journal of surgical pathology 2018 Aug - How and When to Consider Genetic Testing for Colon Cancer?
Ballester Veroushka et al. Gastroenterology 2018 Aug - Genetic secrets of long-term glioblastoma survivors.
Jovcevska Ivana et al. Bosnian journal of basic medical sciences 2018 Aug - Beyond microsatellite testing: assessment of tumor mutational burden identifies subsets of colorectal cancer who may respond to immune checkpoint inhibition.
Fabrizio David A et al. Journal of gastrointestinal oncology 2018 Aug 9(4) 610-617 - A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).
Mateo J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Aug - Cancer Screening
Recommendations for individual patients vary according to their level of risk, Jackson Labs, clinician education - Cancer genetics, precision prevention and a call to action
C Turnbull et al, Nature Genetics, August 29, 2018 - New Study Explains Why Genetic Mutations Cause Disease in Some People but Not in Others
Columbia Systems Biology News, August 2018
Chronic Disease
- All About Your A1C
CDC, August 2018 - Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
K Trajanoska et al, BMJ, August 29, 2018 - Daring to hope
M Wadman, Science, August 23, 2018 - Pharmacogenomic study on anti-VEGF medicine in treatment of macular Neovascular diseases: a study protocol for a prospective observational study.
Jing Jin et al. BMC ophthalmology 2018 Jul 18(1) 181 - Association of genetic risk score and chronic kidney disease in a Japanese population.
Fujii Ryosuke et al. Nephrology (Carlton, Vic.) 2018 Aug - A renal genetic risk score (GRS) is associated with kidney dysfunction in people with type 2 diabetes.
Zusi Chiara et al. Diabetes research and clinical practice 2018 Aug - The genetic risk of Alzheimer's disease beyond APOE ?4: systematic review of Alzheimer's genetic risk scores.
Stocker Hannah et al. Translational psychiatry 2018 Aug 8(1) 166 - Education, intelligence and Alzheimer's disease: Evidence from a multivariable two-sample Mendelian randomization study
EL Anderson et al, BioRXIV, AUgust 2018 - New Genes May Contribute to Alzheimer’s
Boston University Public Health, August 27, 2018 - Molecular diagnosis and classification of inflammatory bowel disease.
Zhang Hu et al. Expert review of molecular diagnostics 2018 Aug
Ethical, Legal and Social Issues (ELSI)
- FDA rejects Akcea rare-disease drug that uses gene-blocking technology
K Sheridan, Stat News, August 27, 2018 - Genomics, Big Data, and Broad Consent: a New Ethics Frontier for Prevention Science.
Fisher Celia B et al. Prevention science : the official journal of the Society for Prevention Research 2018 Aug - The Legal Dimensions of Genomic Sequencing in Newborn Screening.
Zacharias Rachel L et al. The Hastings Center report 2018 Jul 48 Suppl 2S39-S41 - My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.
Michelson Jeremy et al. The Hastings Center report 2018 Jul 48 Suppl 2S32-S34 - Eugenics Redux: "Reproductive Benefit" as a Rationale for Newborn Screening.
Paul Diane B et al. The Hastings Center report 2018 Jul 48 Suppl 2S12-S13 - A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information.
Lewis Megan A et al. The Hastings Center report 2018 Jul 48 Suppl 2S25-S27 - Are Parents Really Obligated to Learn as Much as Possible about Their Children's Genomes?
Johnston Josephine et al. The Hastings Center report 2018 Jul 48 Suppl 2S14-S15
General Practice
- In depth: Polygenic risk scoring
L Eisenstadt, Broad Institute, AUgust 27, 2018 - Assessment of Epidemiology Capacity in State Health Departments — United States, 2017
CDC MMWR, August 24, 2018 - Genomic Medicine XI: Research Directions in Genomic Medicine Implementation
NHGRI, September 5-6, 2018 - Introducing medical genetics services in Ethiopia using the MiGene Family History App.
Quinonez Shane C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - From hype to reality: data science enabling personalized medicine.
Fröhlich Holger et al. BMC medicine 2018 Aug 16(1) 150 - Nutrigenomics and the Future of Nutrition: Proceedings of a Workshop.
National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Food and Nutrition Board; Food Forum, 2018 - EVIDENCE REQUIRED BY HEALTH TECHNOLGY ASSESSMENT AND REIMBURSEMENT BODIES EVALUATING DIAGNOSTIC OR PROGNOSTIC ALGORITHMS THAT INCLUDE OMICS DATA.
Barna Alexandre et al. International journal of technology assessment in health care 2018 Aug 1-10 - How 500,000 Britons are critical to assessing global disease risk UK Biobank volunteers help develop genetic tests for common disorders worldwide
C Elwell, August 22, 2018 - Disabilities and Access to Health Care
CDC Information, 2018 - Influence of puberty timing on adiposity and cardiometabolic traits: A Mendelian randomisation study.
Bell Joshua A et al. PLoS medicine 2018 Aug 15(8) e1002641 - INTEGRATING COMMUNITY-LEVEL DATA RESOURCES FOR PRECISION MEDICINE RESEARCH.
Bush William S et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2018 23618-622 - Researchers find a way to mimic clinical trials using genetics A technique called Mendelian randomization could be the revolutionary tool drug companies have been waiting for.
G Tauber, MIT Tech Review, August 28, 2018 - The Beauty Of 'Small Data' In Medicine, From Measuring Kids To Tumor Mutations
I Kohane, WBUR, August 29, 2018 - Opinion: Consumer DNA Testing Is Crossing into Unethical Territories-Data don’t support many direct-to-consumer products, from telomere assessments to bespoke diets based on genetic sequences.
JD Loike, The Scientist, August 2018 - Consumer Genetic Testing Will Change Your Life. In Fact, It Probably Already Has.
E Matloff, Forbes, August 24, 2018
Heart, Lung, Blood and Sleep Diseases
- When to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy The Family Perspective
S Christian et al, CIrc Genomics Prec Medicine, August 2018 - In pediatric familial hypercholesterolemia, lipoprotein(a) is more predictive than LDL-C for early onset of cardiovascular disease in family members.
Zawacki Amy W et al. Journal of clinical lipidology 2018 Jul - Assessment of the QT Interval in Athletes: Red Flags and Pitfalls.
Ahluwalia Nikhil et al. Current treatment options in cardiovascular medicine 2018 Aug 20(10) 82 - Mimicking Factor VIII to Manage the Factor VIII-Deficient State.
Ragni Margaret V et al. The New England journal of medicine 2018 Aug 379(9) 880-882 - Clinical Utility of Genetic Testing in the Diagnosis of Familial Hypercholesterolemia
NLA Free Webinar, Thu, Oct 25, 2018 6:00 PM - 7:00 PM EDT - Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy.
Christian S et al. Journal of genetic counseling 2018 Aug - Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Natarajan Pradeep et al. Nature communications 2018 Aug 9(1) 3391 - In pediatric familial hypercholesterolemia, lipoprotein(a) is more predictive than LDL-C for early onset of cardiovascular disease in family members
AW Zawacki et al, J CLin Lipidology, August 2018 - Noncardiac genetic predisposition in sudden infant death syndrome.
Gray Belinda et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug - Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors.
Mahlangu Johnny et al. The New England journal of medicine 2018 Aug 379(9) 811-822
Newborn Screening
- Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
Puck Jennifer M et al. The Hastings Center report 2018 Jul 48 Suppl 2S7-S9 - Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope.
Currier Robert J et al. The Hastings Center report 2018 Jul 48 Suppl 2S37-S38 - Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns.
Lobitz Stephan et al. Annals of hematology 2018 Aug - Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
Dankert-Roelse Jeannette E et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Aug - Newborn screening for Cerebrotendinous Xanthomatosis is the Solution for Early Identification and Treatment.
DeBarber Andrea E et al. Journal of lipid research 2018 Aug - Using Newborn Sequencing to Advance Understanding of the Natural History of Disease.
Holm Ingrid A et al. The Hastings Center report 2018 Jul 48 Suppl 2S45-S46 - What Genomic Sequencing Can Offer Universal Newborn Screening Programs.
Powell Cynthia M et al. The Hastings Center report 2018 Jul 48 Suppl 2S18-S19 - Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies.
Johnston Josephine et al. The Hastings Center report 2018 Jul 48 Suppl 2S2-S6 - Families' Experiences with Newborn Screening: A Critical Source of Evidence.
Grob Rachel et al. The Hastings Center report 2018 Jul 48 Suppl 2S29-S31 - Commercial Interests, the Technological Imperative, and Advocates: Three Forces Driving Genomic Sequencing in Newborns.
Pereira Stacey et al. The Hastings Center report 2018 Jul 48 Suppl 2S43-S44
Pharmacogenomics
- The effect of pharmacogenomic testing on response and remission rates in the acute treatment of major depressive disorder: A meta-analysis.
Rosenblat Joshua D et al. Journal of affective disorders 2018 Aug 241484-491 - The role of pharmacogenetics of cytochrome P450s in phenytoin-induced DRESS syndrome.
Yasar Ümit et al. Central-European journal of immunology 2018 43(2) 220-221 - Impact of SLCO1B1 pharmacogenetic testing on patient and healthcare outcomes: A systematic review.
Vassy Jason L et al. Clinical pharmacology and therapeutics 2018 Aug
Reproductive Health
- ACOG Technology Assessment in Obstetrics and Gynecology No. 14: Modern Genetics in Obstetrics and Gynecology.
et al. Obstetrics and gynecology 2018 132(3) e143-e168 - Should every embryo undergo preimplantation genetic testing for aneuploidy? A review of the modern approach to in vitro fertilization.
Maxwell Susan M et al. Best practice & research. Clinical obstetrics & gynaecology 2018 Jul - Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Porter Kathryn M et al. Molecular genetics & genomic medicine 2018 Aug - Public funding for non-invasive prenatal testing for fetal aneuploidy - It's time.
Maxwell Susannah et al. The Australian & New Zealand journal of obstetrics & gynaecology 2018 Aug 58(4) 385-387 - Application of chromosomal microarray analysis in products of miscarriage.
Zhu Xiangyu et al. Molecular cytogenetics 2018 1144 - Noninvasive Prenatal Screening for Fetal Sex Chromosome Aneuploidies at Two Next-Generation Sequencing Platforms.
Xue Ying et al. Annals of clinical and laboratory science 2018 Jul 48(4) 501-505
News/ Reviews/Comments
- ACOG Technology Assessment in Obstetrics and Gynecology No. 14 Summary: Modern Genetics in Obstetrics and Gynecology.
et al. Obstetrics and gynecology 2018 Sep 132(3) 807-808
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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