Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Aug 2, 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

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Development and content validation of the Muscular Dystrophy Child Health Index of Life with Disabilities questionnaire for children with Duchenne muscular dystrophy.
  Propp Roni et al. Developmental medicine and child neurology 2018 Jul
• First Patient Receives Gene Therapy for Rare Liver Disorder 
  U Conn Health, YouTube video, July 26, 2018
• [Genetic diagnostics of retinal dystrophies : Breakthrough with new methods of DNA sequencing].
  Bolz H J et al. Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2018 Jul
• A critical view on transgenerational epigenetic inheritance in humans.
  Horsthemke Bernhard et al. Nature communications 2018 Jul 9(1) 2973
• Therapeutic Drug Monitoring in Pediatric IBD: Current Application and Future Perspectives.
  Lega S et al. Current medicinal chemistry 2018 25(24) 2840-2854
• The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.
  Arnett Anne B et al. Current opinion in psychology 2018 Jul 271-5
• Integrating -Omics Approaches into Human Population-Based Studies of Prenatal and Early-Life Exposures.
  Everson Todd M et al. Current environmental health reports 2018 Jul
• Exposure to tobacco smoke and low birth weight: from epidemiology to metabolomics.
  Dessì Angelica et al. Expert review of proteomics 2018 Jul
• Recent advances in developing therapeutics for cystic fibrosis.
  Strug Lisa J et al. Human molecular genetics 2018 Aug 27(R2) R173-R186
• Survival Patterns and Cancer Determinants in Families with Myotonic Dystrophy Type I.
  Best Ana et al. European journal of neurology 2018 Jul
• Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses.
  Saville Jennifer T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul

Cancer

• No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
  Engel Christoph et al. Gastroenterology 2018 Jul
• DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
  Richardson Marcy E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• Routine molecular analysis for Lynch syndrome among adenomas or colorectal cancer within a national screening program.
  Goverde A et al. Gastroenterology 2018 Jul
• What You Need to Know About Genetic and Molecular Testing
  A Rosenzweig, Pan Can, July 26, 2018
• Liquid Biopsy, Key for Precision Medicine Sequencing Circulating Tumor DNA Can Provide a More Complete Molecular Picture 
  A Picher, GEN News, July 23, 2018
• A Review of Molecular Predictors of Response to Neoadjuvant Chemotherapy in Muscle-invasive Bladder Cancer.
  Degener Stephan et al. Mini reviews in medicinal chemistry 2018 18(13) 1133-1142
• Would Routine Genomic Testing For Cancer And Heart Risk Make Economic Sense?
  A Weintraub, Forbes, July 30, 2018
• The Present and Future of Liquid Biopsies in Non-Small Cell Lung Cancer: Combining Four Biosources for Diagnosis, Prognosis, Prediction, and Disease Monitoring.
  Bracht Jillian Wilhelmina Paulina et al. Current oncology reports 2018 Jul 20(9) 70
• Application of 21-gene recurrence score results and ASTRO suitability criteria in breast cancer patients treated with intraoperative radiation therapy (IORT).
  Schwartzberg Barbara S et al. American journal of surgery 2018 Jul
• A systematic review on the frequency of BRCA promoter methylation in breast and ovarian carcinomas of BRCA germline mutation carriers: Mutually exclusive, or not?
  Vos Shoko et al. Critical reviews in oncology/hematology 2018 Jul 12729-41
• The clinical significance of platelet-derived growth factors (PDGFs) and their receptors (PDGFRs) in gastric cancer: A systematic review and meta-analysis.
  Qian Hai et al. Critical reviews in oncology/hematology 2018 Jul 12715-28
• Coping Mechanisms, Psychological Distress, and Quality of Life Prior to Cancer Genetic Counseling.
  Di Mattei Valentina E et al. Frontiers in psychology 2018 91218
• BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
  Kowalik Artur et al. PloS one 2018 13(7) e0201086
• NIH and Prostate Cancer Foundation launch large study on aggressive prostate cancer in African-American men
  NCI, July 2018
• The Impact of EndoPredict Clinical Score on Chemotherapy Recommendations in Women with Invasive ER + /HER2 - Breast Cancer Stratified as Having Moderate or Poor Prognosis by Nottingham Prognostic Index.
  Mokbel Kinan et al. Anticancer research 2018 Aug 38(8) 4747-4752
• Predictors for High Microsatellite Instability in Patients with Colorectal Cancer Fulfilling the Revised Bethesda Guidelines.
  Arakawa Keiichi et al. Anticancer research 2018 Aug 38(8) 4871-4876
• Integrative omics analyses broaden treatment targets in human cancer.
  Sengupta Sohini et al. Genome medicine 2018 Jul 10(1) 60
• Analysis of a large cohort of non-small cell lung cancers submitted for somatic variant analysis demonstrates that targeted next-generation sequencing is fit for purpose as a molecular diagnostic assay in routine practice.
  Moore David Allan et al. Journal of clinical pathology 2018 Jul
• Sex Differences in Using Systemic Inflammatory Markers to Prognosticate Patients with Head and Neck Squamous Cell Carcinoma.
  Lin Ching Ying et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Jul
• Next-Generation Sequencing Identifies a Highly Accurate miRNA Panel That Distinguishes Well-Differentiated Thyroid Cancer from Benign Thyroid Nodules.
  Mazeh Haggi et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Jul
• Association of Circulating Tumor Cells With Late Recurrence of Estrogen Receptor-Positive Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
  Sparano Joseph et al. JAMA oncology 2018 Jul
• A comprehensive review of exceptional responders to anticancer drugs in the biomedical literature.
  Nishikawa Go et al. European journal of cancer (Oxford, England : 1990) 2018 Jul 101143-151
• Men's and Women's Approaches to Disclosure About BRCA-Related Cancer Risks and Family Planning Decision-Making.
  Dean Marleah et al. Qualitative health research 2018 Jul 1049732318788377
• Molecular therapies and precision medicine for hepatocellular carcinoma.
  Llovet Josep M et al. Nature reviews. Clinical oncology 2018 Jul
• Clinical potential of circulating tumour DNA in patients receiving anticancer immunotherapy.
  Cabel Luc et al. Nature reviews. Clinical oncology 2018 Jul
• Genomic testing for pancreatic cancer in clinical practice as real-world evidence.
  Hayashi Hideyuki et al. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2018 Jul
• Overview of Precision Oncology Trials: Challenges and Opportunities.
  Fountzilas Elena et al. Expert review of clinical pharmacology 2018 Jul

Chronic Disease

• Evidence behind the use of molecular tests in melanocytic lesions and practice patterns of these tests by dermatopathologists.
  Emanuel Patrick O et al. Journal of cutaneous pathology 2018 Jul
• CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation.
  Vavvas Demetrios G et al. Proceedings of the National Academy of Sciences of the United States of America 2018 115(4) E696-E704
• Association Between Midlife Risk Factors and Late-Onset Epilepsy: Results From the Atherosclerosis Risk in Communities Study.
  Johnson Emily L et al. JAMA neurology 2018 Jul
• Effect of Apolipoprotein E ?4 Carrier Status on Cognitive Response to Acetylcholinesterase Inhibitors in Patients with Alzheimer's Disease: A Systematic Review and Meta-Analysis.
  Cheng Ying-Chih et al. Dementia and geriatric cognitive disorders 2018 Jul 45(5-6) 335-352
• Trans- and inter-generational epigenetic inheritance in allergic diseases.
  Mørkve Knudsen Toril et al. The Journal of allergy and clinical immunology 2018 Jul
• Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in Canada.
  Kalatharan Vinusha et al. Canadian journal of kidney health and disease 2018 52054358118789368
• Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
  Chyra Kufova Zuzana et al. Journal of clinical pathology 2018 Aug 71(8) 687-694
• Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries
  JA Flannick et al, BioRXIV, July 31, 2018
• Navigating the evidentiary turn in public health: Sensemaking strategies to integrate genomics into state-level chronic disease prevention programs.
  Senier Laura et al. Social science & medicine (1982) 2018 Aug 211207-215
• Association Between Midlife Risk Factors and Late-Onset Epilepsy: Results From the Atherosclerosis Risk in Communities Study.
  Johnson Emily L et al. JAMA neurology 2018 Jul

Ethical, Legal and Social Issues (ELSI)

• 23andMe Is Sharing Genetic Data with Drug Giant: The genetics testing company and GlaxoSmithKline are using 5 million people’s data to develop medical treatments 
• Privacy best practices for consumer genetic testing services
  Future of Privacy Forum, July 31, 2018
• A framework for enhancing ethical genomic research with Indigenous communities.
  Claw Katrina G et al. Nature communications 2018 Jul 9(1) 2957
• Gene editing in human development: ethical concerns and practical applications.
  Rossant Janet et al. Development (Cambridge, England) 2018 Jul 145(16)
• Disclosure of Genetic Risk: When Genetic Relatives Are Not Family Members.
  Gabriel Jazmine L et al. The American journal of bioethics : AJOB 2018 Jul 18(7) 77-79
• Medical Devices; Immunology and Microbiology Devices; Classification of the Next Generation Sequencing Based Tumor Profiling Test. Final order.
  et al. Federal register 2018 Jun 83(121) 28994-6
• [Ethical dilemmas in a general practitioner's clinic due to incidental findings resulting from whole genome sequencing].
  Wouters Roel H P et al. Nederlands tijdschrift voor geneeskunde 2018 Jun 162
• Privacy-Preserving Linkage of Genomic and Clinical Data Sets.
  Baker Dixie et al. IEEE/ACM transactions on computational biology and bioinformatics 2018 Jul

General Practice

• The case for population screening for BRCA, Lynch Syndrome, and FH 
  Color Genomics, YouTube, June 2018
• Comparison of 2 Treatment Models: Precision Medicine and Preventive Medicine.
  Psaty Bruce M et al. JAMA 2018 Jul
• UMN Expert: Consumer genetic testing
  H Zierhut, University of Minnesota, July 26, 2018
• The Path to Routine Genomic Screening in Health Care
  M Murray, Annals of Internal Medicine, July 30, 2018
• Physician-Reported Benefits and Barriers to Clinical Implementation of Genomic Medicine: A Multi-Site IGNITE-Network Survey.
  Owusu Obeng Aniwaa et al. Journal of personalized medicine 2018 Jul 8(3)
• Scientists on the Spot: Sequencing the human genome to influence patient healthcare.
  Schmidt Constanze et al. Cardiovascular research 2018 Jul 114(9) e66-e67
• The Current State and Future of CRISPR-Cas9 gRNA Design Tools.
  Wilson Laurence O W et al. Frontiers in pharmacology 2018 9749
• The new era of precision population health: insights for the All of Us Research Program and beyond.
  Lyles Courtney R et al. Journal of translational medicine 2018 Jul 16(1) 211
• Lifestyle Genomics: Addressing the Multifactorial Nature of Personalized Health.
  Mutch David M et al. Lifestyle genomics 2018 Jul 1-8
• Genetics and genomic medicine in Argentina.
  Vishnopolska Sebastián A et al. Molecular genetics & genomic medicine 2018 Jul
• The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
  Jackson Leigh et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• Early Outcome Data Assessing Utility of a Post-Test Genomic Counseling Framework for the Scalable Delivery of Precision Health.
  Sturm Amy C et al. Journal of personalized medicine 2018 Jul 8(3)
• What Personal Genome Testing Can and Can't Do-The limitations of personal genome service testing 
  M Shermer, Scientific American, August 2018

Heart, Lung, Blood and Sleep Diseases

• FH Foundation Genetic Testing Consensus Statement on FH
  You Tube, July 30, 2018
• Do More Genetic Testing for Familial High Cholesterol - Expert panel makes recommendations on cascade screening, specific genes to test
  C Phend, Medpage Today, July 30, 2018
• Clinical Genetic Testing for Familial Hypercholesterolemia
  AC Sturm et al, JACC, August 6, 2018
• FH Foundation Announces Consensus Statement on Genetic Testing for Familial Hypercholesterolemia (FH)
  The FH Foundation, July 30, 2018
• Whole-genome sequencing for HCM screening.
  Fernandez-Ruiz Irene et al. Nature reviews. Cardiology 2018 Jul
• Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.
  Song Tingting et al. Journal of clinical laboratory analysis 2018 Jul e22630
• Gene therapy in hemophilia A: a cost-effectiveness analysis.
  Machin Nicoletta et al. Blood advances 2018 Jul 2(14) 1792-1798
• Development of a Hydroxyurea Decision Aid for Parents of Children With Sickle Cell Anemia.
  Crosby Lori E et al. Journal of pediatric hematology/oncology 2018 Jul
• Prevalence and Pharmacologic Management of Familial Hypercholesterolemia in an Unselected Contemporary Cohort of Patients With Stable Coronary Artery Disease.
  De Luca Leonardo et al. Clinical cardiology 2018 Jul
• Precision Medicine and Personalized Medicine in Cardiovascular Disease.
  Currie Gemma et al. Advances in experimental medicine and biology 2018 1065589-605
• Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.
  Medeiros Domingo Argelia et al. Swiss medical weekly 2018 148w14638
• Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management.
  Mytilinaiou Maria et al. Frontiers in pharmacology 2018 9707
• Attainment of Recommended Lipid Targets in Patients With Familial Hypercholesterolemia: Real-World Experience With PCSK9 Inhibitors.
  Razek Omar et al. The Canadian journal of cardiology 2018 Aug 34(8) 1004-1009
• Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease.
  Belisário André Rolim et al. Hematology, transfusion and cell therapy 40(2) 166-181
• Clinical Genetic Testing for Familial Hypercholesterolemia,
  Journal of the American College of Cardiology, Volume 72, Issue 6, August 2018
• Genetic score identifies young patients at risk for MI
  ASPC, July 28, 2018
• Scoring atherosclerosis in the search of evidence-based personalized medicine.
  Ricci Fabrizio et al. International journal of cardiology 2018 26130-31
• Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: clinical aspects.
  Meier Nathaniel M et al. Cardiovascular diagnosis and therapy 2018 Jun 8(3) 316-324

Newborn Screening

• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
  Ginalska-Malinowska Maria et al. Developmental period medicine 2018 22(2) 197-200
• Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
  Yang Chi-Ju et al. BMC pediatrics 2018 18(1) 110

Pharmacogenomics

• Pharmacogenetics of anticancer drug sensitivity and toxicity in colorectal cancer.
  Moradi-Marjaneh Reyhaneh et al. Current pharmaceutical design 2018 Jul
• Teaching students in clinical programs about pharmacogenomics: do they understand drug-drug interactions?
  O'Brien Travis J et al. Personalized medicine 2018 Jul
• Diagnostic accuracy of NUDT15 gene variants for thiopurine-induced leukopenia: a systematic review and meta-analysis.
  Cargnin Sarah et al. Pharmacological research 2018 Jul
• Impacts of GRIN3A, GRM6 and TPH2 genetic polymorphisms on quality of life in methadone maintenance therapy population.
  Wang Ruey-Yun et al. PloS one 2018 13(7) e0201408
• Pharmacogenomics and the Future of Pharmacy 
  J Sederstrom, Drug Topics, July 2018
• Impact of incorporating ABCB1 and CYP4F2 polymorphisms in a pharmacogenetics-guided warfarin dosing algorithm for the Brazilian population.
  Tavares Letícia C et al. European journal of clinical pharmacology 2018 Jul
• Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.
  Valencic Erica et al. Current medicinal chemistry 2018 25(24) 2764-2782
• CYP2D6 basic genotyping as a potential tool to improve the antiemetic efficacy of ondansetron in prophylaxis of postoperative nausea and vomiting.
  Niewinski Przemyslaw A et al. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2018 Jul
• Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine.
  Ramsey Laura B et al. Clinical pharmacology and therapeutics 2018 Jul

Reproductive Health

• Noninvasive Prenatal Genetic Screening Using Cell-free DNA 
  MA Allyse et al, JAMA, July 30, 2018
• Prospective observations study protocol to investigate cost-effectiveness of various prenatal test strategies after the introduction of noninvasive prenatal testing.
  Kim So Yeon et al. BMC pregnancy and childbirth 2018 Jul 18(1) 307
• Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent In situ Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome.
  Xu Chao et al. Chinese medical journal 2018 Aug 131(15) 1808-1812
• Fetal DNA sequencing potentially could reduce need for invasive prenatal diagnostic procedures
  NIH, August 1, 2018
• Sequencing of Circulating Cell-free DNA during Pregnancy.
  Bianchi Diana W et al. The New England journal of medicine 2018 Aug 379(5) 464-473

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.