Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Nov 1, 2018

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
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.
  Slavotinek Anne et al. Human genetics 2018 Oct
• Giving adolescents a voice: the types of genetic information adolescents choose to learn and why.
  Pervola Josie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
• Calculating the Effects of Autism Risk Gene Variants on Dysfunction of Biological Processes Identifies Clinically-Useful Information
  OJ Veatch et al, BIORXIV, October 22, 2018
• Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
  Li Ran et al. BioMed research international 2018 20183724630
• Young People Living at Risk of Huntington's Disease: The Lived Experience.
  Lewit-Mendes Miranda F et al. Journal of Huntington's disease 2018 Oct
• Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
  Ivanova Marianna E et al. Ophthalmic genetics 2018 Oct 1-8
• For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
  Plachý Luká? et al. Pediatric endocrinology reviews : PER 2018 Sep 16(1) 171-177
• Fragile X population carrier screening.
  Metcalfe Sylvia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(9) 1091-1092
• Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.
  Adams Dawn et al. Orphanet journal of rare diseases 2018 Oct 13(1) 185
• Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
  Yahalom Claudia et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018 Nov 256(11) 2157-2164
• Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
  Sarosiak Anna et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018 Nov 256(11) 2127-2134
• Relative frequency of inherited retinal dystrophies in Brazil.
  Motta Fabiana Louise et al. Scientific reports 2018 Oct 8(1) 15939
• A genotype-based database for variants causing the Sjögren-Larsson Syndrome.
  Weustenfeld Maximilian et al. Human mutation 2018 Oct

Cancer

• Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
  Latham Alicia et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Oct JCO1800283
• Preferred end coordinates and somatic variants as signatures of circulating tumor DNA associated with hepatocellular carcinoma.
  Jiang Peiyong et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Oct
• Prospective Genotyping of Hepatocellular Carcinoma: Clinical Implications of Next Generation Sequencing for Matching Patients to Targeted and Immune Therapies.
  Harding James J et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Oct
• Towards a precision medicine in venous thromboembolism associated to lung cancer.
  Jara-Palomares Luis et al. Journal of thoracic disease 2018 Sep 10(Suppl 26) S3064-S3066
• Clinical Utility of Rapid EGFR Genotyping in Advanced Lung Cancer.
  Dagogo-Jack Ibiayi et al. JCO precision oncology 2018 2018
• Decoding transcriptomic intra-tumour heterogeneity to guide personalised medicine in ovarian cancer.
  Tan Tuan Zea et al. The Journal of pathology 2018 Oct
• Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology Assays.
  Merker Jason D et al. Archives of pathology & laboratory medicine 2018 Oct
• Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.
  Emons Günter et al. Geburtshilfe und Frauenheilkunde 2018 Oct 78(10) 949-971
• Application of Cell-free DNA Analysis to Cancer Treatment.
  Corcoran Ryan B et al. The New England journal of medicine 2018 Nov 379(18) 1754-1765
• Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts.
  Rahm Alanna Kulchak et al. BMC health services research 2018 Oct 18(1) 824
• Comparing diagnostic and prognostic performance of two-gene promoter methylation panels in tissue biopsies and urines of prostate cancer patients.
  Moreira-Barbosa Catarina et al. Clinical epigenetics 2018 Oct 10(1) 132
• Revised Australian national guidelines for colorectal cancer screening: family history.
  Jenkins Mark A et al. The Medical journal of Australia 2018 Oct

Chronic Disease

• Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
  Chen Huey-Ling et al. The Journal of pediatrics 2018 Oct
• A Type 1 Diabetes Genetic Risk Score Can Identify Patients With GAD65 Autoantibody-Positive Type 2 Diabetes Who Rapidly Progress to Insulin Therapy.
  Grubb Anita L et al. Diabetes care 2018 Oct
• Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics.
  Diestro Jose Danilo B et al. Frontiers in neurology 2018 9830
• Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
  Mallawaarachchi Amali C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
• Prediction of treatment response in rheumatoid arthritis patients using genome-wide SNP data.
  Cherlin Svetlana et al. Genetic epidemiology 2018 Oct
• Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
  Patel Kashyap A et al. Clinical endocrinology 2018 Oct
• Novel genome-wide associations for suicidality in UK Biobank, genetic correlation with psychiatric disorders and polygenic association with completed suicide.
  RJ Strawbridge et al, BIORXIV, October 25, 2018

Ethical, Legal and Social Issues (ELSI)

• The 10th Oxbridge varsity medical ethics debate-should we fear the rise of direct-to-consumer genetic testing?
  Holland Christian Michael Armstrong et al. Philosophy, ethics, and humanities in medicine : PEHM 2018 Oct 13(1) 14
• Genomic Literacy and Awareness of Ethical Guidance for Genomic Research in Sub-Saharan Africa: How Prepared Are Biomedical Researchers?
  Ogunrin Olubunmi et al. Journal of empirical research on human research ethics : JERHRE 2018 Oct 1556264618805194
• A systematic literature review of individuals' perspectives on privacy and genetic information in the United States.
  Clayton Ellen W et al. PloS one 2018 13(10) e0204417
• Protecting Participants, Empowering Researchers: Providing Access to Genomic Summary Results
  ED Green et al, NHGRI, November 1, 2018
• FDA authorizes first direct-to-consumer test for detecting genetic variants that may be associated with medication metabolism
  FDA Press Release, October 31, 2018

General Practice

• Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.
  Tsai Ginger J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
• The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design.
  Lacaze Paul et al. European journal of human genetics : EJHG 2018 Oct
• HmtVar: a new resource for human mitochondrial variations and pathogenicity data.
  Preste Roberto et al. Nucleic acids research 2018 Oct
• Most Current Smokers Desire Genetic Susceptibility Testing and Genetically-Efficacious Medication.
  Chiu Ami et al. Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology 2018 Oct
• Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings.
  Boardman Felicity et al. Molecular genetics & genomic medicine 2018 Oct
• Genomic Literacy of Registered Nurses and Midwives in Australia: A Cross-Sectional Survey.
  Wright Helen et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2018 Oct
• In defense of precision public health 
  R Horton, Lancet, October 27, 2018
• Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.
  Scheuner Maren T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
• Psychiatric genetics researchers' views on offering return of results to individual participants.
  Kostick Kristin M et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018 Oct
• Moving Toward a Precision-Based, Personalized Framework for Prevention Science: Introduction to the Special Issue.
  August Gerald J et al. Prevention science : the official journal of the Society for Prevention Research 2018 Oct
• Factors Associated with Acceptability, Consideration and Intention of Uptake of Direct-To-Consumer Genetic Testing: A Survey Study.
  Stewart Kelly F J et al. Public health genomics 2018 Oct 1-8
• Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis.
  Maróti Zoltán et al. BMC genomics 2018 Oct 19(1) 778

Heart, Lung, Blood and Sleep Diseases

• Capitalizing on Insights from Human Genetics to Identify Novel Therapeutic Targets for Coronary Artery Disease.
  Young Erica P et al. Annual review of medicine 2018 Oct
• Emerging Genetic Therapy for Sickle Cell Disease.
  Orkin Stuart H et al. Annual review of medicine 2018 Oct
• A stroke gene panel for whole-exome sequencing.
  Ilinca Andreea et al. European journal of human genetics : EJHG 2018 Oct
• An update on the journey towards precision medicine in cardiology.
  Pitt Geoffrey S et al. European heart journal 2018 Oct 39(40) 3627-3628
• The prevalence, clinical status and genotype of cystic fibrosis patients living in Cuba using national registry data.
  Rodríguez-Calá Fidel et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Oct
• Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.
  Gibbs Charlotte et al. Journal of the American Heart Association 2018 Aug 7(16) e009706
• Combined association of cardiorespiratory fitness and family history of hypertension on the incidence of hypertension: a long-term cohort study of Japanese males.
  Gando Yuko et al. Hypertension research : official journal of the Japanese Society of Hypertension 2018 Oct
• Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.
  Li Shijie et al. Journal of the American Heart Association 2018 Oct 7(20) e009910
• Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia.
  Jones Laney K et al. Circulation. Genomic and precision medicine 2018 Aug 11(8) e002146
• When to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy.
  Christian Susan et al. Circulation. Genomic and precision medicine 2018 Aug 11(8) e002300
• Genetic risk, incident stroke, and the benefits of adhering to a healthy lifestyle: cohort study of 306 473 UK Biobank participants.
  Rutten-Jacobs Loes Ca et al. BMJ (Clinical research ed.) 2018 Oct 363k4168
• Systematic review study supports that sickle cell trait increases risk for some health conditions- More research needed to clarify all health outcomes associated with SCT
  J Mjoseth, NHGRI, October 30, 2018
• Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia.
  Izar Maria Cristina de Oliveira et al. Arquivos brasileiros de cardiologia 2018 Oct 111(4) 585-586
• Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
  Mariscalco Giovanni et al. Journal of the American Heart Association 2018 Aug 7(15) e009302
• Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review 
  RP Naik et al, Annals of Internal Medicine, October 2018
• A Global Call to Action on Familial Hypercholesterolemia 
  S Seim, The FH Foundation, October 321, 2018

Pharmacogenomics

• The Integrating Pharmacogenetics in Clinical Care (I-PICC) Study: Protocol for a point-of-care randomized controlled trial of statin pharmacogenetics in primary care.
  Vassy Jason L et al. Contemporary clinical trials 2018 Oct
• Implementing Clinical Pharmacogenomics in the Classroom: Student Pharmacist Impressions of an Educational Intervention Including Personal Genotyping.
  Frick Amber et al. Pharmacy (Basel, Switzerland) 2018 Oct 6(4)
• Effects of Delivering SLCO1B1 Pharmacogenetic Information in Randomized Trial and Observational Settings.
  Peyser Bruce et al. Circulation. Genomic and precision medicine 2018 Sep 11(9) e002228
• Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study.
  Grimsrud Kristin N et al. Journal of burn care & research : official publication of the American Burn Association 2018 Oct
• Interactions Between ABCB1 Genotype and Preoperative Statin Use Impact Clinical Outcomes Among Breast Cancer Patients.
  Tryggvadottir Helga et al. Frontiers in oncology 2018 8428
• Using a personalized clinical decision support system for bromdihydrochlorphenylbenzodiazepine dosing in patients with anxiety disorders based on the pharmacogenomic markers.
  Zastrozhin Michael S et al. Human psychopharmacology 2018 Oct e2677
• Clinical application and importance of one-step human CYP2C19 genotype detection.
  Zheng Ling-Jie et al. The Journal of international medical research 2018 Oct 300060518787718

Reproductive Health

• Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.
  Zeevi David A et al. Scientific reports 2018 Oct 8(1) 15941
• Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism after next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A).
  Palmerola Katherine L et al. Journal of assisted reproduction and genetics 2018 Oct
• Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
  Leung Gordon K C et al. BMC medical genomics 2018 Oct 11(1) 93
• Non-invasive pre-implantation genetic testing of human embryos: an emerging concept.
  Farra C et al. Human reproduction (Oxford, England) 2018 Oct
• Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.
  Deng Yuyuan et al. International journal of pediatric otorhinolaryngology 2018 Dec 115114-119
• Genetic abnormalities seen on CVS in early pregnancy failure.
  Gimovsky Alexis C et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Oct 1-191

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.