Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Nov 29, 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 validation of the Charcot-Marie-Tooth Disease Infant Scale.
  Mandarakas Melissa R et al. Brain : a journal of neurology 2018 Nov
• Perceptions of parents of children with hearing loss of genetic origin in South Africa.
  Gardiner Sinead Amber et al. Journal of community genetics 2018 Nov
• Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
  Al-Hashmi Nadia et al. Case reports in genetics 2018 20186737938
• The accuracy of computer-based diagnostic tools for the identification of concurrent genetic disorders.
  Wadhwa Raoul R et al. American journal of medical genetics. Part A 2018 Nov
• Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
  Ardiçli Didem et al. Neuropediatrics 2018 Nov
• Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.
  Heimall Jennifer et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 129-140
• integRATE: a desirability-based data integration framework for the prioritization of candidate genes across heterogeneous omics and its application to preterm birth.
  Eidem Haley R et al. BMC medical genomics 2018 Nov 11(1) 107
• DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene.
  Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov
• Genetic moderation of the effects of the Family Check-Up intervention on children's internalizing symptoms: A longitudinal study with a racially/ethnically diverse sample.
  Lemery-Chalfant Kathryn et al. Development and psychopathology 2018 Dec 30(5) 1729-1747
• Genetic Susceptibility for Childhood BMI has no Impact on Weight Loss Following Lifestyle Intervention in Danish Children.
  Hollensted Mette et al. Obesity (Silver Spring, Md.) 2018 Dec 26(12) 1915-1922
• Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
  Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov

Cancer

• No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer.
  Jacobson Michelle et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1497-1510
• Association of PI3K Pathway Mutations with Early Positron-Emission Tomography/CT Imaging Response after Radioembolization for Breast Cancer Liver Metastases: Results of a Single-Center Retrospective Pilot Study.
  Deipolyi Amy R et al. Journal of vascular and interventional radiology : JVIR 2018 29(9) 1226-1235
• Use of Next-Generation Sequencing Tests to Guide Cancer Treatment: Results From a Nationally Representative Survey of Oncologists in the United States 
  JN Friedman et al, JCO, November 2018
• Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors.
  Dicks Elizabeth et al. Journal of community genetics 2018 Nov
• Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.
  Chan Sock Hoai et al. NPJ genomic medicine 2018 330
• Evaluating Clinical Genome Sequence Analysis by Watson for Genomics.
  Itahashi Kota et al. Frontiers in medicine 2018 5305
• A narrative overview of the patients' outcomes after multigene cancer panel testing: Thorough evaluation of its implications for genetic counselling.
  Esteban I et al. European journal of medical genetics 2018 Nov
• Lynch Syndrome diagnosis in Ireland: The impact of universal mismatch repair protein testing. 
  L Corrigan et al, JCO, November 2018
• Rechallenge for Patients With RAS and BRAF Wild-Type Metastatic Colorectal Cancer With Acquired Resistance to First-line Cetuximab and Irinotecan: A Phase 2 Single-Arm Clinical Trial.
  Cremolini Chiara et al. JAMA oncology 2018 Nov
• Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion.
  Stoffel Elena M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Nov JCO1801489
• Germline Genetics of Prostate Cancer: Time to Incorporate Genetics into Early Detection Tools.
  Fantus Richard J et al. Clinical chemistry 2018 Nov
• Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
  Giri Veda N et al. The Prostate 2018 Nov
• Risk Reduction and Survival Benefit of Risk-Reducing Salpingo-oophorectomy in Hereditary Breast Cancer: Meta-analysis and Systematic Review.
  Xiao Ye-Lei et al. Clinical breast cancer 2018 Oct
• Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification.
  Toland Amanda E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov
• Impact of family history of colorectal cancer on age-specific prevalence of colorectal neoplasia.
  Park Chan Hyuk et al. Journal of gastroenterology and hepatology 2018 Nov
• Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.
  Singer Christian F et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10654-60

Chronic Disease

• Familial Mediterranean fever: breaking all the (genetic) rules.
  Stella Alessandro et al. Rheumatology (Oxford, England) 2018 Nov
• Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
  Siji Annes et al. BMC medical genetics 2018 Nov 19(1) 200

Ethical, Legal and Social Issues (ELSI)

• Consent for Genetic Biobanking in a Diverse Multisite CKD Cohort.
  Troost Jonathan P et al. Kidney international reports 2018 Nov 3(6) 1267-1275
• FDA approves ‘precision medicine’ drug for different cancers with same mutation
  L McGinley, Washington Post, November 26, 2018
• Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia.
  Newson Ainsley J et al. Twin research and human genetics : the official journal of the International Society for Twin Studies 2018 Nov 1-5
• Thought leader perspectives on benefits and harms in precision medicine research.
  Beskow Laura M et al. PloS one 2018 13(11) e0207842
• Attitudes of publics who are unwilling to donate DNA data for research.
  Middleton Anna et al. European journal of medical genetics 2018 Nov

General Practice

• Experiences and perspectives on the return of secondary findings among genetic epidemiologists.
  Stein Catherine M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov
• Genetic variation is associated with PTSD risk and aversive memory: Evidence from two trauma-Exposed African samples and one healthy European sample.
  Wilker Sarah et al. Translational psychiatry 2018 Nov 8(1) 251
• Statistical pitfalls of personalized medicine
  S Senn, Nature News, November 27, 2018
• Qualitative study of system-level factors related to genomic implementation.
  Zebrowski Alexis M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov

Heart, Lung, Blood and Sleep Diseases

• Familial history of hypertension-induced impairment on heart rate variability was not observed in strength-trained subjects.
  Santa-Rosa F A et al. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2018 Nov 51(12) e7310
• Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
  Lamont Ryan E et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1417-1423
• A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in TP63 gene in Arrhythmogenic Cardiomyopathy patients.
  Poloni Giulia et al. Heart rhythm 2018 Nov
• Variants in APOA5 and ADIPOQ Moderate Improvements in Metabolic Syndrome during a One-Year Lifestyle Intervention.
  Lowry Dana E et al. Lifestyle genomics 2018 Nov 1-10
• Cancer specific survival in patients with sickle cell disease.
  Brunson Ann et al. British journal of haematology 2018 Nov
• Prevalence and correlates of growth failure in young African patients with sickle cell disease.
  Alexandre-Heymann Laure et al. British journal of haematology 2018 Nov
• Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.
  Lopes A P et al. Pulmonology 2018 Dec 24 Suppl 11-21

Newborn Screening

• Newborn screening for 3-hydroxy-3-methylglutaric aciduria using direct analysis in real-time mass spectrometry.
  Huang Zhongping et al. Journal of mass spectrometry : JMS 2018 Nov
• Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
  Dorsey Morna J et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 1-11

Pharmacogenomics

• Pharmacogenetics: The Solution for All Future Challenges?
  van Gelder Teun et al. Drug research 2018 Nov 68(S 01) S24
• Pharmacogenomics and Psychiatric Nursing.
  White Michelle Marie et al. Issues in mental health nursing 2018 Nov 1-5
• A Pharmacogenomic-based Antidepressant Treatment for Patients with Major Depressive Disorder: Results from an 8-week, Randomized, Single-blinded Clinical Trial.
  Han Changsu et al. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology 2018 Nov 16(4) 469-480
• The Case for Pharmacogenetics-Guided Prescribing of Codeine in Children.
  Gammal Roseann S et al. Clinical pharmacology and therapeutics 2018 Nov
• Pharmacogenetics of treatments for inflammatory bowel disease.
  Lucafò Marianna et al. Expert opinion on drug metabolism & toxicology 2018 Nov

Reproductive Health

• Refining the ethics of preimplantation genetic diagnosis: A plea for contextualized proportionality.
  Dondorp Wybo et al. Bioethics 2018 Nov

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.

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB