Publication Date: Nov 22, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- CFTR Modulator Therapy for Cystic Fibrosis.
Grasemann Hartmut et al. The New England journal of medicine 2017 Nov - The Actionability of Exome sequencing testing results.
Stivers Tanya et al. Sociology of health & illness 2017 Nov 39(8) 1542-1556 - The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
H Lochmuller et al, Eur J Human Genetics, Nov 21, 2017 - Marking 15 years of the Genetic and Rare Diseases Information Center.
Lewis Janine et al. Translational science of rare diseases 2017 May 2(1-2) 77-88 - Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Schofield Deborah et al. NPJ genomic medicine 2017 2 - A Wish Realized: Genetic testing solves a family medical mystery
Mayo Clinic, Nov 16, 2017 - Extreme Parenting: How the mothers and fathers of children with ultra rare disorders spearhead their own support and research strategies.
K Edwards, Genome Magazine, Nov 16, 2017 - A Life Saved By Genetic Sequencing
K Raven, Yale Medicine, Nov 20, 2017 - Man Receives First In Vivo Gene-Editing Therapy- The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.
K Grens, The Scientist, Nov 15, 2017 - Progress in Diagnostic Genetic Testing for Inherited Eye Disease.
Wiggs Janey L et al. JAMA ophthalmology 2017 Nov - Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
Rim John Hoon et al. JAMA ophthalmology 2017 Nov - Telomere Length and Childhood Stress Don’t Always Correlate
K Zimmer, the Scientist, Nov 17, 2017
Cancer
- Genetics and Genomics: An Oncology Nurse's Journey in Practice.
Mahon Suzanne M et al. Clinical journal of oncology nursing 2017 Dec 21(6) 715-721 - Precision Medicine: Accelerating the Science to Revolutionize Cancer Care
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Brant Jeannine M et al. Clinical journal of oncology nursing 2017 Dec 21(6) 722-729 - The evolving role of genomic testing in assessing prognosis of patients with myelodysplastic syndromes.
Steensma David P et al. Best practice & research. Clinical haematology 2017 Dec 30(4) 295-300 - Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
Rosenthal Eric T et al. Cancer genetics 2017 Dec 218-21958-68 - Analysis of factors influencing molecular testing at diagnostic of colorectal cancer.
Thiebault Quentin et al. BMC cancer 2017 Nov 17(1) 765 - New Histopathological & Genetic Features to Improve Active Surveillance Selection for Low-Risk Prostate Cancer.
Wong Lih-Ming et al. Anti-cancer agents in medicinal chemistry 2017 Nov - The European Society for Medical Oncology (ESMO) Precision Medicine Glossary.
Yates L R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov - The utility of blood neuroendocrine gene transcript measurement in the diagnosis of bronchopulmonary neuroendocrine tumours and as a tool to evaluate surgical resection and disease progression.
Filosso Pier Luigi et al. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2017 Nov - Germline Genetic Features of Young Individuals with Colorectal Cancer.
Stoffel Elena M et al. Gastroenterology 2017 Nov - Efficacy of proximal colectomy for surgical management of right-sided first colorectal cancer in Lynch Syndrome mutation carriers.
Hiatt Molly J et al. American journal of surgery 2017 Nov - Novel Strategies on Personalized Medicine for Breast Cancer Treatment: An Update.
Chan Carmen W H et al. International journal of molecular sciences 2017 Nov 18(11) - The Predictive Value of PITX2 DNA Methylation for High-Risk Breast Cancer Therapy: Current Guidelines, Medical Needs, and Challenges.
Aubele Michaela et al. Disease markers 2017 20174934608 - A metastasis biomarker (MetaSite Breast™ Score) is associated with distant recurrence in hormone receptor-positive, HER2-negative early-stage breast cancer.
Sparano Joseph A et al. NPJ breast cancer 2017 342 - The Era of Multigene Panels Comes? The Clinical Utility of Oncotype DX and MammaPrint.
Xin Ling et al. World journal of oncology 2017 Apr 8(2) 34-40 - Impact of Oncotype DX on chemotherapy assignment: a retrospective single-center study on female breast cancer patients.
Panousis Dimitris et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 22(5) 1199-1208 - A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings.
Rana Huma Q et al. Journal of community genetics 2017 Nov - Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine.
Cheng Liang et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Nov - Biological and clinical implications of telomere dysfunction in myeloid malignancies.
Kishtagari Ashwin et al. Therapeutic advances in hematology 2017 Nov 8(11) 317-326 - CU doctor's work on hereditary cancer took him halfway around the world to help a woman and her family
J Anderson, World Herald, Nov 17, 2017 - Dr. Henry Lynch to be honored again for his cancer research
J Anderson, World Herald, Nov 17, 2017 - These 14 Women Are Grateful for Their BRCA Diagnosis—Here’s Why
J Sinrich, Readers Digest, Nov 2017 - Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer.
Park Sungmin et al. World journal of surgery 2017 Nov - Impact of a decision aid about stratified ovarian cancer risk-management on women's knowledge and intentions: a randomised online experimental survey study.
Meisel Susanne F et al. BMC public health 2017 Nov 17(1) 882 - Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
Zlotogora Joël et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov - Core Clinical Data Elements for Cancer Genomic Repositories: A Multi-stakeholder Consensus.
Conley Robert B et al. Cell 2017 Nov 171(5) 982-986 - Biospecimen donation among black and white breast cancer survivors: opportunities to promote precision medicine.
Sheppard Vanessa B et al. Journal of cancer survivorship : research and practice 2017 Nov
Chronic Disease
- Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.
Snoek Rozemarijn et al. Kidney international 2017 Dec 92(6) 1325-1327 - Genetic testing for exercise prescription and injury prevention: AIS-Athlome consortium-FIMS joint statement.
Vlahovich Nicole et al. BMC genomics 2017 Nov 18(Suppl 8) 818 - Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease.
Hunter S et al. Molecular psychiatry 2017 Nov - What if You Knew Alzheimer’s Was Coming for You?
P Kennedy, NY Times, Nov 17, 2017 - Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa.
Adadey Samuel Mawuli et al. Omics : a journal of integrative biology 2017 Nov 21(11) 638-646
Ethical, Legal and Social Issues (ELSI)
- Ethics and Genetics: Examining a Crossroads in Nursing Through a Case Study
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Curr Beamer Laura Curr et al. Clinical journal of oncology nursing 2017 Dec 21(6) 730-737 - Consent, ethics and genetic biobanks: the case of the Athlome project.
Thompson Rachel et al. BMC genomics 2017 Nov 18(Suppl 8) 830 - Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape.
Kalokairinou L et al. Journal of community genetics 2017 Nov - CRISPR cas9 - licensing the unlicensable.
Storz Ulrich et al. Journal of biotechnology 2017 Nov - What You Need to Know About FDA Oversight of Genomics Research
C Wagner, NHGRI, Nov 18. 2017 - Designing Ethical Trials of Germline Gene Editing.
Cwik Bryan et al. The New England journal of medicine 2017 Nov 377(20) 1911-1913 - Gene therapy: evidence, value and affordability in the US health care system.
Hampson Grace et al. Journal of comparative effectiveness research 2017 Nov - Re-Framing Biotechnology Regulation.
Peck Alison et al. Food and drug law journal 72(2) 314-40
Practice
- Taiwan Biobank: making cross-database convergence possible in the Big Data era.
Lin Jui-Chu et al. GigaScience 2017 Nov - Errors in Genetic Testing: Common Causes and Strategies for Prevention.
Mahon Suzanne M et al. Clinical journal of oncology nursing 2017 Dec 21(6) 673-676 - I paid $300 for DNA-based fitness advice and all I got was junk science
A Chen, The Verge, Nov 17, 2017 - Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" Strategy.
Mitropoulos Konstantinos et al. Omics : a journal of integrative biology 2017 Nov 21(11) 647-657 - Improving -Omics-Based Research and Precision Health in Minority Populations: Recommendations for Nurse Scientists.
Taylor Jacquelyn Y et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2017 Nov - Knowing is Not Enough—Act on Your Family Health History
- G-TRUST (Guideline Trustworthiness, Relevance, and Utility Scoring Tool)
- Genomics handbook provides customized education for physicians
K Palmer, NHGRI, Nov 16, 2017 - What's Happening to Your DNA Data?: Genetic Testing Services Abound, but Consumers Opting to Use Them Should Be Aware of the Pitfalls.
Grifantini Kristina et al. IEEE pulse 8(6) 10-14 - Developing a Clinician Friendly Tool to Identify Useful Clinical Practice Guidelines: G-TRUST.
Shaughnessy Allen F et al. Annals of family medicine 2017 Sep 15(5) 413-418 - Integrating surgery and genetic testing for the modern surgeon.
Caso Raul et al. Annals of translational medicine 2017 Oct 5(20) 399 - Prioritizing diversity in human genomics research.
Hindorff Lucia A et al. Nature reviews. Genetics 2017 Nov - Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Roy Somak et al. The Journal of molecular diagnostics : JMD 2017 Nov - Happy Thanksgiving 2017: Take time to collect, share, and act on your family health history, it may save your life!
MJ Khoury, Blog Post, November 20, 2017 - Mendelian Randomization: How the Natural Assortment of Genes Can Mimic Randomized Clinical Trials
JAMA Podcast, Nov 21, 2017 - Public health genomics information is now easily accessible online
W Yu and MJ Khoury, CDC Blog Post, November 20, 2017 - Genomics and Precision Medicine: How Can Emerging Technologies Address Population Health Disparities? Join the Conversation.
W Burke et al, CDC Blog Post, Nov 13, 2017 - National organizations support outreach efforts for NIH’s All of Us Research Program
NIH, Nov 16, 2017 - Prioritizing diversity in human genomics research
L Hindorff et al, Nat Rev Genetics, Nov 20, 2017 - Universal Genomics Instructor Handbook and Toolkit
Training Residents in Genomics - Mendelian randomization
CA Emdin et al, JAMA, Nov 21, 2017
Heart, Lung, Blood and Sleep Diseases
- Personalized medicine and Hispanic health: improving health outcomes and reducing health disparities - a National Heart, Lung, and Blood Institute workshop report.
Avilés-Santa M Larissa et al. BMC proceedings 2017 11(Suppl 11) 11 - Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results.
Smagarinsky Yana et al. Pilot and feasibility studies 2017 353 - Association of CETP Gene Variants With Risk for Vascular and Nonvascular Diseases Among Chinese Adults.
Millwood Iona Y et al. JAMA cardiology 2017 Nov - Recent development of risk-prediction models for incident hypertension: An updated systematic review.
Sun Dongdong et al. PloS one 2017 12(10) e0187240 - Personalized medicine-a modern approach for the diagnosis and management of hypertension.
Savoia Carmine et al. Clinical science (London, England : 1979) 2017 Nov 131(22) 2671-2685
Newborn Screening
- Newborn Screening for Spinal Muscular Atrophy and Lysosomal Storage Disorders Takes Advantage of Novel Therapies.
Andersson Hans C et al. The Journal of pediatrics 2017 Nov 1909-10 - Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
Burlina Alberto B et al. Journal of inherited metabolic disease 2017 Nov - Newborn Screening for Sickle Cell Disease in St. Vincent and the Grenadines: Results of a Pilot Newborn Screening Program.
Williams Shelly-Ann et al. Global pediatric health 2017 42333794X17739191
Pharmacogenomics
- Pharmacogenomics: Principles and Relevance to Oncology Nursing
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Dodson Crystal H et al. Clinical journal of oncology nursing 2017 Dec 21(6) 739-745 - Access to Guideline-Recommended Pharmacogenomic Tests for Cancer Treatments: Experience of Providers and Patients.
Wu Ann Chen et al. Journal of personalized medicine 2017 Nov 7(4) - Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update.
Amstutz Ursula et al. Clinical pharmacology and therapeutics 2017 Nov
Reproductive Health
- Dilemmas in Genetic Counseling for Low-Penetrance Neuro-Susceptibility Loci Detected on Prenatal Chromosomal Microarray Analysis.
Brabbing-Goldstein Dana et al. American journal of obstetrics and gynecology 2017 Nov - Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study.
Ainsworth Alessandra J et al. Gynecologic and obstetric investigation 2017 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.
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