Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Nov 21, 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
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Funding

Birth Defects and Child Health

• "This could be me": exploring the impact of genetic risk for Huntington's disease young caregivers.
  Dondanville Danielle S et al. Journal of community genetics 2018 Nov
• Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
  Elmas M et al. Molecular biology reports 2018 Nov
• Modern methods in diagnostics and research of molecular bases of rare diseases.
  Kmoch Stanislav et al. Casopis lekaru ceskych 2018 157(3) 133-136
• Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
  Sharma Neeraj et al. PLoS genetics 2018 Nov 14(11) e1007723
• Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
  Lee Jennifer et al. Ophthalmic genetics 2018 Nov 1-6

Cancer

• Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views.
  Medendorp Niki M et al. Journal of community genetics 2018 Nov
• When to obtain genomic data in acute myeloid leukemia (AML) and which mutations matter.
  Roloff Gregory W et al. Blood advances 2018 Nov 2(21) 3070-3080
• Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer.
  McCuaig Jeanna M et al. Cancers 2018 Nov 10(11)
• Results of morphological screening for Lynch syndrome during the period 2013-2016.
  Dušek Martin et al. Ceskoslovenska patologie 2018 54(2) 86-92
• Natural Disease History, Outcomes, and Co-mutations in a Series of Patients With BRAF-Mutated Non-small-cell Lung Cancer.
  Myall Nathaniel J et al. Clinical lung cancer 2018 Oct
• Duodenal tumor risk in Lynch syndrome.
  Hammoudi Nassim et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018 Oct
• Budget impact analysis of comprehensive genomic profiling in patients with advanced non-small cell lung cancer.
  Signorovitch James et al. Journal of medical economics 2018 Nov 1-27
• Advances in HER2-Targeted Therapy: Novel Agents and Opportunities Beyond Breast and Gastric Cancer.
  Meric-Bernstam Funda et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Nov
• Panel-based next-generation sequencing identifies prognostic and actionable genes in childhood acute lymphoblastic leukemia and is suitable for clinical sequencing.
  Ishida Hisashi et al. Annals of hematology 2018 Nov
• The impact of UGT1A1 genetic polymorphism on toxicity in unresectable pancreatic cancer patients undergoing FOLFIRINOX.
  Shirasu Hiromichi et al. Cancer science 2018 Nov
• NCI-MATCH Update: More Labs, New Arms, and Initial Findings
  NCI, November 15, 2018
• Consumer and clinician perspectives on personalising breast cancer prevention information.
  Keogh L A et al. Breast (Edinburgh, Scotland) 2018 Nov 4339-47
• RAS genes in colorectal carcinoma: pathogenesis, testing guidelines and treatment implications.
  Saeed Omer et al. Journal of clinical pathology 2018 Nov
• Probabilistic cost-utility analysis and expected value of perfect information for the Oncotype multigenic test: a discrete event simulation model.
  Ibarrondo Oliver et al. Gaceta sanitaria 2018 Nov
• Impact of a Clinical Decision Support System on Guideline Adherence of Surveillance Recommendations for Colonoscopy After Polypectomy.
  Magrath Melissa et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Nov 16(11) 1321-1328
• OncoBase: a platform for decoding regulatory somatic mutations in human cancers.
  Li Xianfeng et al. Nucleic acids research 2018 Nov
• Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome.
  Kanaya Nobuhiko et al. Breast cancer (Tokyo, Japan) 2018 Nov
• The Clinical Impact of the Genomic Landscape of Mismatch Repair-Deficient Cancers.
  Germano Giovanni et al. Cancer discovery 2018 Nov
• Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation.
  Wu Xinyu et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Nov
• Effect of Diets, Familial History, and Alternative Therapies on Genomic Instability of Breast Cancer Patients.
  Paz Márcia Fernanda Correia Jardim et al. Applied biochemistry and biotechnology 2018 Nov
• Cutaneous sebaceous tumours and Lynch syndrome: long-term follow-up of 60 patients.
  Marcoval J et al. Clinical and experimental dermatology 2018 Nov
• Budget Impact of Next-Generation Sequencing for Molecular Assessment of Advanced Non-Small Cell Lung Cancer.
  Yu Tiffany M et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 Nov 21(11) 1278-1285
• Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
  van Marcke C et al. Critical reviews in oncology/hematology 2018 Dec 132138-144

Chronic Disease

• Causal Effects of Blood Lipids on Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study.
  Zeng Ping et al. Human molecular genetics 2018 Nov
• Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).
  Özdemir Taha R et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Nov

General Practice

• Use of polygenic risk scores of nicotine metabolism in predicting smoking behaviors.
  Chen Li-Shiun et al. Pharmacogenomics 2018 Nov
• OMIM.org: leveraging knowledge across phenotype-gene relationships.
  Amberger Joanna S et al. Nucleic acids research 2018 Nov

Heart, Lung, Blood and Sleep Diseases

• Association Between Obesity and Cardiovascular Outcomes- A Systematic Review and Meta-analysis of Mendelian Randomization Studies
  H Riaz, JAMA Network Open, November 16, 2018
• Adiposity and Cardiometabolic Outcomes- What Can Meta-analyses of Mendelian Randomization Studies Contribute?
  K Wade, JAMA Network Open, November 16, 2018
• Sickle cell screening in Europe: the time has come.
  Shook Lisa M et al. British journal of haematology 2018 Nov
• Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
  Domínguez Fernando et al. Journal of the American College of Cardiology 2018 Nov 72(20) 2471-2481
• The Clinical Course of a Genetic Dilated Cardiomyopathy: Letting the Cat Out of the BAG3.
  Shaw Robin M et al. Journal of the American College of Cardiology 2018 Nov 72(20) 2482-2484
• Genetic Testing and Counseling for Hypertrophic Cardiomyopathy.
  Cirino Allison L et al. Cardiology clinics 2019 Feb 37(1) 35-43
• Arrhythmogenic Cardiomyopathy in 2018: ARVC/ALVC or Both?
  Bennett Richard G et al. Heart, lung & circulation 2018 Oct
• Incidence of cardiovascular disease in familial combined hyperlipidemia: A 15-year follow-up study.
  Luijten Jim et al. Atherosclerosis 2018 Nov 2801-6
• Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists.
  Boffi Lucia et al. Italian journal of pediatrics 2018 Nov 44(Suppl 2) 122
• Insulin resistance in children with familial hyperlipidemia.
  Terlemez Semiha et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Nov
• Clinical and Experimental Human Sleep-Wake Pharmacogenetics.
  Landolt Hans-Peter et al. Handbook of experimental pharmacology 2018 Nov
• Direct blood PCR: TaqMan-probe based detection of the venous thromboembolism associated mutations factor V Leiden and prothrombin c.20210G>A without DNA extraction.
  Kathrin Geiger et al. Clinica chimica acta; international journal of clinical chemistry 2018 Nov

Newborn Screening

• A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns.
  Paquin Ryan S et al. Social science & medicine (1982) 2018 Nov
• The Effect of Delayed and Early Diagnosis in Siblings, and Importance of Newborn Screening for SCID.
  Krantz Matthew S et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2018 Nov
• Newborn screening in mucopolysaccharidoses.
  Donati Maria Alice et al. Italian journal of pediatrics 2018 Nov 44(Suppl 2) 126

Pharmacogenomics

• An Effective Approach to Teaching Pharmacogenomics in the First Year of Pharmacy Curriculum.
  Gálvez-Peralta Marina et al. American journal of pharmaceutical education 2018 Oct 82(8) 6345
• Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update.
  Relling Mary V et al. Clinical pharmacology and therapeutics 2018 Nov
• Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine.
  Mahmutovic Lejla et al. Human genomics 2018 Nov 12(1) 50
• Epilepsy control with carbamazepine monotherapy from a genetic perspective.
  Ullah Shakir et al. BMC pharmacology & toxicology 2018 Nov 19(1) 73

Reproductive Health

• Prenatal diagnostics of chromosomal aberrations in the Czech Republic: Actual data and important trends.
  Šípek Antonín et al. Casopis lekaru ceskych 2018 157(3) 137-140

Funding

• Implementation Science for Cancer Control: Advanced Centers (P50 Clinical Trial Optional)
  NCI FOA, November 15, 2018
• Implementation Science for Cancer Control: Developing Centers (P50 Clinical Trial Optional)
  NCI FOA, November 15, 2018

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