Publication Date: Nov 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Gene therapy: Transgenic stem cells replace skin
M Aragona et al, Nature News, November 7, 2017 - Six Genes May Hold Clues to Preterm Birth
Genome Magazine, Oct 2017 - The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.
van der Ploeg Ans T et al. The New England journal of medicine 2017 377(18) 1786-1787 - eRAM: encyclopedia of rare disease annotations for precision medicine.
Jia Jinmeng et al. Nucleic acids research 2017 Nov - November is National Prematurity Awareness Month
- Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Quarrell Oliver W et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Nov - Gene therapy creates boy’s replacement skin from his stem cells
R Lewis, Genetic Literacy Project, Nov 8, 2017 - Clinical Diagnostic Genetic Testing for Individuals With Developmental Disorders.
Muhle Rebecca A et al. Journal of the American Academy of Child and Adolescent Psychiatry 2017 Nov 56(11) 910-913 - Special issue: Fragile X syndrome
Science Signaling, Nov 7, 2017 - Gene Therapy Creates Replacement Skin to Save a Dying Boy
D Grady, NY Times, Nov 8, 2017
Cancer
- Genetic prognostication in uveal melanoma.
Dogrusöz Mehmet et al. Acta ophthalmologica 2017 Nov - Development of a high risk pancreatic screening clinic using 3.0 T MRI.
Barnes Chad A et al. Familial cancer 2017 Nov - Genome-wide DNA methylation analysis reveals a prognostic classifier for non-metastatic colorectal cancer (ProMCol classifier).
Gündert Melanie et al. Gut 2017 Nov - Prostate Cancer Germline Variations and Implications for Screening and Treatment.
Dias Alexander et al. Cold Spring Harbor perspectives in medicine 2017 Nov - Emerging molecular predictive and prognostic factors in acute myeloid leukemia.
McCurdy Shannon R et al. Leukemia & lymphoma 2017 Nov 1-19 - "Personalized Cancer Therapy": A Publicly Available Precision Oncology Resource.
Kurnit Katherine C et al. Cancer research 2017 Nov 77(21) e123-e126 - Genetic variants as ovarian cancer first-line treatment hallmarks: A systematic review and meta-analysis.
Assis Joana et al. Cancer treatment reviews 2017 Oct 6135-52 - Towards the use of precision medicine in predicting cutaneous squamous cell carcinoma risk among solid organ transplant recipients.
Nguyen M O et al. The British journal of dermatology 2017 177(4) 901-902 - Clinical utility of multigene profiling assays in early-stage breast cancer.
Chang M C et al. Current oncology (Toronto, Ont.) 2017 Oct 24(5) e403-e422 - Molecular Testing of Lung Cancers.
Shim Hyo Sup et al. Journal of pathology and translational medicine 2017 May 51(3) 242-254 - Circulating microRNAs Expressions as Genetic Biomarkers in Pancreatic Cancer Patients Continuous Non-Invasive Monitoring.
Sandesc Mihai et al. Clinical laboratory 2017 Oct 63(10) 1561-1566 - Proposal for the Creation of a National Strategy for Precision Medicine in Cancer: a position statement of SEOM, SEAP and SEFH.
Garrido Pilar et al. Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria 2017 Nov 41(6) 688-691 - Whom to Treat: Postdiagnostic Risk Assessment with Gleason Score, Risk Models, and Genomic Classifier.
Herlemann Annika et al. The Urologic clinics of North America 2017 Nov 44(4) 547-555 - Low yield of gastroscopy in patients with Lynch syndrome.
Galiatsatos Polymnia et al. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2017 Oct - Treating DNA Repair-deficient Breast Cancers
S Ravoori, AACR Blog Post, Nov 3, 2017 - A genetic roadmap of pancreatic cancer: still evolving.
Notta Faiyaz et al. Gut 2017 Oct - Lung cancer epigenetics: From knowledge to applications.
Duruisseaux Michaël et al. Seminars in cancer biology 2017 Sep - Development and clinical application of radiomics in lung cancer.
Chen Bojiang et al. Radiation oncology (London, England) 2017 Sep 12(1) 154 - Combination of ULK1 and LC3B improve prognosis assessment of hepatocellular carcinoma.
Wu Dong-Hao et al. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2017 Oct 97195-202 - Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.
Lynch Henry T et al. Familial cancer 2017 Oct - Genetic anticipation in Swedish Lynch syndrome families.
von Salomé Jenny et al. PLoS genetics 2017 Oct 13(10) e1007012 - Association of Alterations in Main Driver Genes With Outcomes of Patients With Resected Pancreatic Ductal Adenocarcinoma.
Qian Zhi Rong et al. JAMA oncology 2017 Nov - Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients.
Morgese Francesca et al. Oncotarget 2017 Sep 8(44) 75914-75923 - Gene network inherent in genomic big data improves the accuracy of prognostic prediction for cancer patients.
Kim Yun Hak et al. Oncotarget 2017 Sep 8(44) 77515-77526 - Genetic risk score to predict biochemical recurrence after radical prostatectomy in prostate cancer: prospective cohort study.
Oh Jong Jin et al. Oncotarget 2017 Sep 8(44) 75979-75988 - Actionable gene-based classification toward precision medicine in gastric cancer.
Ichikawa Hiroshi et al. Genome medicine 2017 Oct 9(1) 93 - Position paper: Rationale for the treatment of Wilms tumour in the UMBRELLA SIOP-RTSG 2016 protocol.
van den Heuvel-Eibrink Marry M et al. Nature reviews. Urology 2017 Oct - A plea for appraisal and appreciation of immunohistochemistry in the assessment of prognostic and predictive markers in invasive breast cancer.
Van Bockstal Mieke et al. Breast (Edinburgh, Scotland) 2017 Oct 3752-55 - Cancer Risk-Reducing Opportunities in Gynecologic Surgery.
Piszczek Carolyn et al. Journal of minimally invasive gynecology 2017 Oct - Universal Screening for Lynch Syndrome in Endometrial Cancers: Frequency of Germline Mutations and Identification of Patients with Lynch-Like Syndrome.
Dillon Jessica L et al. Human pathology 2017 Oct
Chronic Disease
- Hunt to Stop a Killer
Genome Magazine, Oct 2017 - Clinical practice guidelines or personalized medicine in chronic obstructive pulmonary disease?
Soler-Cataluña Juan José et al. Archivos de bronconeumologia 2017 Nov - New treatment paradigms for ADPKD: moving towards precision medicine.
Lanktree Matthew B et al. Nature reviews. Nephrology 2017 Oct - Genetics of Huntington disease.
Nance Martha A et al. Handbook of clinical neurology 2017 1443-14 - Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.
Torres Vicente E et al. The New England journal of medicine 2017 Nov - Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.
Bouwkamp Christian G et al. The American journal of psychiatry 2017 Nov 174(11) 1036-1050 - Clinical Genetic Testing for APOL1: Are we There Yet?
Young Bessie A et al. Seminars in nephrology 2017 Nov 37(6) 552-557
Ethics/Policy/Law
- FDA Eases Regulatory Path, Consumer Access to Genetic Health Risk Tests,
Genome Web, November 6, 2017
Practice
- What Happens When You Put 500,000 People's DNA Online
S Zhang, The Atlantic, Nov 6, 2017 - DNA Will Point the Way to Healthier Patients: The fast-growing field of personalized medicine can help doctors pinpoint optimal ways to treat illnesses and keep patients healthier.
E Gardner, US Health News, Nov 9, 2017 - Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Hu Xuyun et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov - Limitations and Pitfalls of Using Family Letters to Communicate Genetic Risk: a Qualitative Study with Patients and Healthcare Professionals.
Dheensa Sandi et al. Journal of genetic counseling 2017 Nov - Review of Clinical Next-Generation Sequencing.
Yohe Sophia et al. Archives of pathology & laboratory medicine 2017 Nov 141(11) 1544-1557 - You Can Get Your DNA Tested At An NFL Game. Should You?
D Levy, NPR, Nov 8, 2017 - The RARE List™
Approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide, Global Genes, Nov 2017 - FDA clears the way for more consumer genetic health tests to hit the market
Stat News, Nov 6, 2017
Cardiovascular Diseases
- Beta-blockers for preventing aortic dissection in Marfan syndrome.
Koo Hyun-Kyoung et al. The Cochrane database of systematic reviews 2017 Nov 11CD011103 - People at risk of familial hypercholesterolaemia should have DNA test, says NICE.
et al. BMJ (Clinical research ed.) 2017 Nov 359j5112 - Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong Ivone U S et al. Medical sciences (Basel, Switzerland) 2017 Oct 5(4) - A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders.
Zentner Dominica et al. European journal of medical genetics 2017 Nov - Cascade screening for familial hypercholesterolemia: Practical consequences.
Louter Leonora et al. Atherosclerosis. Supplements 2017 Nov 3077-85 - CaRe high - Cascade screening and registry for high cholesterol in Germany.
Schmidt Nina et al. Atherosclerosis. Supplements 2017 Nov 3072-76 - The future of nutrition: Nutrigenomics and nutrigenetics in obesity and cardiovascular diseases.
Peña-Romero Alicia Cristina et al. Critical reviews in food science and nutrition 2017 Jul 1-12
Newborn Screening
- Evaluation of newborn sickle cell screening programme in England: 2010-2016.
Streetly Allison et al. Archives of disease in childhood 2017 Nov - Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Borghesi Alessandro et al. Italian journal of pediatrics 2017 Nov 43(1) 100 - Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Tortorelli Silvia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov - Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Andraz Smon et al. Clinical biochemistry 2017 Oct - "Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
Viall Sarah et al. Molecular genetics and metabolism 2017 Oct
Pharmacogenomics
- An assessment of the impact of pharmacogenomics on health disparities: a systematic literature review.
Martin Antony et al. Pharmacogenomics 2017 Nov - Pharmacogenomics: Precision Medicine and Drug Response
Richard M. Weinshilboum et al, Mayo Clinic Proc, Nov 2017 - Economic Evaluation of Implementing a Novel Pharmacogenomic Test (IDgenetix(®)) to Guide Treatment of Patients with Depression and/or Anxiety.
Najafzadeh Mehdi et al. PharmacoEconomics 2017 Nov - Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis.
Manolio Teri A et al. Clinical pharmacology and therapeutics 2017 Nov - Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol.
Gao Xiaofeng et al. Pharmacogenomics 2017 Nov - Clinical Pharmacogenetics of Cytochrome P450-Associated Drugs in Children.
Aka Ida et al. Journal of personalized medicine 2017 Nov 7(4) - Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.
Cavallari Larisa H et al. JACC. Cardiovascular interventions 2017 Oct - Pharmacogenomics: Precision Medicine and Drug Response.
Weinshilboum Richard M et al. Mayo Clinic proceedings 2017 Nov 92(11) 1711-1722 - Integrating Pharmacogenomics in Practice: One GIFT at a Time or a Package Deal?
G Feero and MJ Khoury, CDC Blog Post, Nov 6, 2017
Reproductive Health
- Modern Family Planning
S Collins, Genome Magazine, Oct 2017 - Expanded carrier screening in gamete donors of Venezuela.
Urbina Maria Teresa et al. JBRA assisted reproduction 2017 Nov - Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals Karen L et al. Prenatal diagnosis 2017 Nov - Decision-making about prenatal genetic testing among pregnant Korean-American women.
Jun Myunghee et al. Midwifery 2017 Oct 56128-134
Funding
- NIH awards to test ways to store, access, share, and compute on biomedical data in the cloud
NIH, Nov 6, 2017 - Nutrigenetics and Nutrigenomics Approaches for Nutrition Research
NIH Funding Opportunity, Nov 2017
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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