Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB



Publication Date: Mar 9, 2017

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.

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Gene Therapy in a Patient with Sickle Cell Disease  
   Ramya Ramaswami, Resident 360 NEJM Blog, March 2017
• Sickle Cell Disease - A History of Progress and Peril.  
   Wailoo Keith et al. The New England journal of medicine 2017 376(9) 805-807
• Mitochondrial DNA maintenance defects.  
   El-Hattab Ayman W et al. Biochimica et biophysica acta 2017 Feb
• Clinical, Laboratory and Molecular Findings of 63 Patients with Severe Combined Immunodeficiency: A Decade´s Experience.  
   Fazlollahi M R et al. Journal of investigational allergology & clinical immunology 2017 Mar 0
• Teenager's sickle cell reversed with world-first therapy  
   J Gallagher, BBC News, March 2, 2017

Cancer

• Screening for Lynch Syndrome,  
   6abc, March 2, 2017
• BRCA And Me: The Impact Of Screening High-Risk Women Against Ovarian Cancer  
   C Presho, Huffington Post, March 2017
• Few people actually benefit from ‘breakthrough’ cancer immunotherapy  
   Stat News, March 2017
• Colorectal Cancer Incidence Patterns in the United States, 1974–2013  
   Siegel RL, et al. J Natl Cancer Inst (2017) 109 (8): djw322.
• Advanced Cancer Treatments Far From Big-Name Hospitals Precision medicine should become more widely available, and fewer patients will need to travel far for care  
   E Kincaid, WSJ, March 6, 2017
• Realizing the Potential of Cancer Prevention — The Role of Implementation Science  
   KM Emmons et al, NEJM, March 8, 2017
• Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review.  
   Prince Anya E R et al. Pharmacogenomics and personalized medicine 2017 1049-60
• Colorectal cancer rates rising sharply among Gen X and millennials,  
   by Laurie McGinley, Washington Post, February 28, 2017
• Prediction of years of life after diagnosis of breast cancer using omics and omic-by-treatment interactions  
   Agustín González-Reymúndez et al, Eur J Human Genetics, March 8, 2017
• Clinical use of biomarkers in breast cancer: Updated guidelines from the European Group on Tumor Markers (EGTM).  
   Duffy M J et al. European journal of cancer (Oxford, England : 1990) 2017 Feb 75284-298
• Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.  
   Leroy Bernard et al. Cancer research 2017 Mar
• Using lessons from breast, cervical, and colorectal cancer screening to inform the development of lung cancer screening programs.  
   Armstrong Katrina et al. Cancer 2016 122(9) 1338-42
• Noninvasive strategies for lung cancer testing  
   NIH Research Matters, March 7, 2017

Chronic Diseases

• Head injuries can alter hundreds of genes and lead to serious brain diseases  
   Science Magazine, March 6, 2017
• Schizophrenia and the dynamic genome.  
   Sullivan Patrick F et al. Genome medicine 2017 Mar 9(1) 22
• Bioactive Nutrients and Nutrigenomics in Age-Related Diseases.  
   Rescigno Tania et al. Molecules (Basel, Switzerland) 2017 Jan 22(1)
• Uncovering precision phenotype-biomarker associations in traumatic brain injury using topological data analysis.  
   Nielson Jessica L et al. PloS one 2017 12(3) e0169490
• Genetics and Other Risk Factors for Past Concussions in Active-Duty Soldiers.  
   Dretsch Michael N et al. Journal of neurotrauma 2017 Feb 34(4) 869-875
• Update on the genetic architecture of rheumatoid arthritis.  
   Kim Kwangwoo et al. Nature reviews. Rheumatology 2017 Jan 13(1) 13-24
• Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions.  
   Mirkovic Bojan et al. Frontiers in psychiatry 2016 7158
• Nutrigenomics of extra-virgin olive oil: A review.  
   Piroddi Marta et al. BioFactors (Oxford, England) 2017 Jan 43(1) 17-41
• Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.  
   Hercher Laura S et al. Journal of genetic counseling 2016 Dec 25(6) 1267-1275
• Systematic Review of Genetic Risk Factors for Sustaining a Mild Traumatic Brain Injury.  
   Panenka William J et al. Journal of neurotrauma 2017 Feb

Ethics, Policy and Law

• Ethical issues in genetic counseling.  
   Than Nandor Gabor et al. Best practice & research. Clinical obstetrics & gynaecology 2017 Jan
• Informed Consent  
   J Drazen et al, NEJM, March 2017
• Advanced Cancer Treatments Far From Big-Name Hospitals Precision medicine should become more widely available, and fewer patients will need to travel far for care  
   E Kincaid, WSJ, March 6, 2017
• Revamping the US Federal Common Rule: Modernizing Human Participant Research Regulations.  
   Hodge James G et al. JAMA 2017 Feb

Genomics in Practice

• Development and Psychometric Testing of the Criterion-Referenced Measurement Tool for Genetics.  
   Santelli Jeanine Seguin et al. Journal of nursing measurement 2016 24(1) 69-91
• The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.  
   Baldridge Dustin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar
• Expanding RN Scope of Knowledge-Genetics/Genomics: The New Frontier.  
   Rogers Margaret A et al. Journal for nurses in professional development 33(2) 56-63
• Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment.  
   Roy Somak et al. Archives of pathology & laboratory medicine 2016 Sep 140(9) 958-75
• The genetics and pathology of mitochondrial disease.  
   Alston Charlotte L et al. The Journal of pathology 2017 Jan 241(2) 236-250
• Detection of Mutations in Mitochondrial DNA by Droplet Digital PCR.  
   Sofronova J K et al. Biochemistry. Biokhimiia 2016 Oct 81(10) 1031-1037
• Presentation and Diagnostic Evaluation of Mitochondrial Disease.  
   Dimmock David P et al. Pediatric clinics of North America 2017 Feb 64(1) 161-171
• Standards for Reporting Implementation Studies (StaRI) Statement.  
   Pinnock Hilary et al. BMJ (Clinical research ed.) 2017 Mar 356i6795
• Mitochondrial disease and endocrine dysfunction.  
   Chow Jasmine et al. Nature reviews. Endocrinology 2017 Feb 13(2) 92-104
• A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling.  
   Athens Barbara A et al. Journal of genetic counseling 2017 Mar
• Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark.  
   Diness Birgitte Rode et al. Journal of genetic counseling 2017 Mar
• Decision Making on Medical Innovations in a Changing Health Care Environment: Insights from Accountable Care Organizations and Payers on Personalized Medicine and Other Technologies.  
   Trosman Julia R et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2017 Jan 20(1) 40-46

Cardiovascular Diseases

• Keys to Your Genetic Heart Health  
   AC Sturm, NSGC Blog Post, March 2017

Reproductive Health

• Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis.  
   Cheng Y Ky et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Mar
• Non-invasive Prenatal Testing: Exploring ethical issues in biology and medicine  
   Nuffeld Bioethics Report, March 2017
• Preferences regarding contemporary prenatal genetic tests among women desiring testing: implications for optimal testing strategies.  
   Kuppermann Miriam et al. Prenatal diagnosis 2016 May 36(5) 469-75
• Pre-implantation genetic screening among women experiencing recurrent failure of in vitro fertilization.  
   Hatirnaz Safak et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2017 Mar
• The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians.  
   Farrell Ruth M et al. Prenatal diagnosis 2016 Jun 36(6) 499-506
• The dos and don’ts of non-invasive prenatal testing  
   P Brice, PHG Foundation, March 7, 2017
• Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.  
   Tsai Ginger J et al. Journal of genetic counseling 2017 Mar

Pharmacogenomics

• Pharmacogenetics of anti-cancer drugs: State of the art and implementation - recommendations of the French National Network of Pharmacogenetics.  
   Quaranta Sylvie et al. Therapie 2017 Jan
• Assessing feasibility of delivering pharmacogenetic testing in a community pharmacy setting.  
   Haga Susanne B et al. Pharmacogenomics 2017 Mar 18(4) 327-335
• Assessment of patient perceptions of genomic testing to inform pharmacogenomic implementation.  
   Lee Yee Ming et al. Pharmacogenetics and genomics 2017 Mar

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.