June 30 - July 7, 2016
Health Impact Weekly Scan
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
Kunz Joachim B et al. Annals of hematology 2016 Feb 95(3) 397-402 - Sickle Cell Trait Screening of Collegiate Athletes: Ethical Reasons for Program Reform.
Ferrari Rosalie et al. Journal of genetic counseling 2015 Dec 24(6) 873-7
Cancer
- The Holy Grail of Liquid Biopsies
Genome Magazine, June 23, 2016 - FACT SHEET: At Cancer Moonshot Summit, Vice President Biden Announces New Actions to Accelerate Progress Toward Ending Cancer As We Know It
White House, June 28, 2016 - Use and Costs for Tumor Gene Expression Profiling Panels in the Management of Breast Cancer From 2006 to 2012: Implications for Genomic Test Adoption Among Private Payers.
Roberts Megan C et al. Journal of oncology practice / American Society of Clinical Oncology 2015 Jul 11(4) 273-7 - Benefit-Risk Summary of Crizotinib for the Treatment of Patients With ROS1 Alteration-Positive, Metastatic Non-Small Cell Lung Cancer.
Kazandjian Dickran et al. The oncologist 2016 Jun - When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.
Meiser B et al. European journal of human genetics : EJHG 2016 Jun - Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer.
Chiba Akiko et al. Annals of surgical oncology 2016 Jun - The integration of BRCA testing into oncology clinics.
Percival Natalie et al. British journal of nursing (Mark Allen Publishing) 2016 Jun 25(12) 690-4
Chronic Diseases
- The Evolution of Genetics: Alzheimer's and Parkinson's Diseases.
Singleton Andrew et al. Neuron 2016 Jun 90(6) 1154-63 - Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers Elise et al. The Lancet. Neurology 2016 Jul 15(8) 857-68 - Genetic variants in Alzheimer disease - molecular and brain network approaches.
Gaiteri Chris et al. Nature reviews. Neurology 2016 Jun
Ethics, Policy and Law
- Data Sharing and Inductive Learning — Toward Healthy Birth, Growth, and Development
N. L'ntshotsholé Jumbe, et al, NEJM, June 23, 2016 - Private matters: Can someone identify me from my genotype? And so what if they do?
L Beil, Genome Magazine, June 23, 2016 - They’re going to CRISPR people. What could possibly go wrong?
S Begeley, StatNews, June 24, 2016 - Why Knowing Your Genetic Data Can Be a Tricky Proposition,
by Laura Landro, the Wall Street Journal, June 26, 2016 - Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers.
Kleiderman E et al. Clinical genetics 2015 Oct 88(4) 320-6 - Gene-therapy trials must proceed with caution
Nature editorial, June 28, 2016 - Return of individual genomic research results: what do consent forms tell participants?
Pereira Stacey et al. European journal of human genetics : EJHG 2016 Jun - Ethical and Legal Challenges Associated with Public Molecular Autopsies.
Moore Quianta L et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 309-18 - Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings.
Sabatello Maya et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 292-308
Genomics in Practice
- Will precision medicine improve public health
NCI online webinar debate by Drs S Galea and M. Khoury, June 27, 2016 - The molecular hallmarks of epigenetic control
CD Allis, Nature Rev Genetics, June 27, 2016 - Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.
Swerdlow Daniel I et al. International journal of epidemiology 2016 Jun - The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
Nguyen M T et al. Clinical genetics 2015 Oct 88(4) 313-9 - Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.
Ahram Mamoun et al. Journal of genetic counseling 2015 Dec 24(6) 1001-10 - Supporting genetics in primary care: investigating how theory can inform professional education.
Wilson Brenda J et al. European journal of human genetics : EJHG 2016 Jun - Genome variation in precision medicine
Nature Genetics editorial, June 28, 2016 - Ready or Not: The genomic revolution is here, and literacy should begin in the high school classroom.
G Fowler, Genome Magazine, June 23, 2016 - Understanding public reactions to commercialization of biobanks and use of biobank resources.
Nicol Dianne et al. Social science & medicine (1982) 2016 Jun 16279-87 - Epigenome-wide Association Studies and the Interpretation of Disease -Omics.
Birney Ewan et al. PLoS genetics 2016 Jun 12(6) e1006105 - A crowdsourcing approach for reusing and meta-analyzing gene expression data.
Shah Naisha et al. Nature biotechnology 2016 Jun - 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.
Doyle Debra Lochner et al. Journal of genetic counseling 2016 Jun
Cardiovascular Diseases
- These sisters are surviving a dangerous heart ailment together
Washington Post, June 27, 2016 - Enough Evidence, Time to Act!
Fatima Rodriguez and Joshua W. Knowles Circulation July 5, 2016 - Long-Term Risk of Atherosclerotic Cardiovascular Disease in US Adults With the Familial Hypercholesterolemia Phenotype
Perak AM, et al. Circulation 2016 July 5 - The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya Elena et al. Biochimica et biophysica acta 2016 Jul 1863(7 Pt B) 1799-805
Newborn Screening
- Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
Bleyle Lisa et al. Molecular genetics and metabolism reports 2016 Jun 711-5 - Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink Rachel C et al. European journal of human genetics : EJHG 2016 Jun - Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.
Kelly Nicole et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 231-40 - Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios.
Fost Norman et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 241-55 - Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.
Hörster Friederike et al. JIMD reports 2016 Jun - Newborn screening for congenital adrenal hyperplasia in New York State.
Pearce Melissa et al. Molecular genetics and metabolism reports 2016 Jun 71-7 - Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
Reproductive Health
- Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.
Sahoo Trilochan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
Pharmacogenomics
- Codeine Pharmacogenetics as a Proof of Concept for Pediatric Precision Medicine.
Hudak Mark L et al. Pediatrics 2016 Jun - Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease.
Gammal Roseann S et al. Pediatrics 2016 Jun
News/Reviews/Commentaries
- 4.50 from Paddington to Genomics - a look at the journey from arsenic and ancient alchemy to modern-day pharmacogenomics,
Genomics Education Programme, June 27, 2016 - Psychiatric problems common in siblings of people with autism.
by Ann Griswold, Spectrum News, June 23, 2016 - The ups and downs of data sharing in science
Nature editorial, June 21, 2016 - First Human Test of CRISPR Proposed,
by Antonio Regalado, MIT Technology Review, June 16, 2016 - These sisters are surviving a dangerous heart ailment together,
by Marlene Cimons, the Washington Post, June 27, 2016
CDC-Authored Genomics Publications
- Using Multiplex Molecular Testing to Determine the Etiology of Acute Gastroenteritis in Children.
Nicholson Maribeth R, Van Horn Gerald T, Tang Yi-Wei, Vinjé Jan, Payne Daniel C, Edwards Kathryn M, Chappell James D The Journal of pediatrics 2016 6 0. . - Genome Sequence of Vaccinia virus Strain Lister-Butantan, a Lister Vaccine Variant Used during a Smallpox Eradication Campaign in Brazil.
Assis Felipe, Trindade Giliane, Drumond Betânia, Frace Mike, Sammons Scott, Emerson Ginny, Li Yu, Carroll Darin, Batra Dhwani, Abrahão Jonatas, Kroon Erna Genome announcements 2016 0 0. (3) . - Common occurrence of Cryptosporidium hominis in horses and donkeys.
Jian Fuchun, Liu Aiqin, Wang Rongjun, Zhang Sumei, Qi Meng, Zhao Wei, Shi Yadong, Wang Jianling, Wei Jiujian, Zhang Longxian, Xiao Lihua Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2016 6 0. 261-266. - Purification and Characterization of Botulinum Neurotoxin FA from a Genetically Modified Clostridium botulinum Strain.
Pellett Sabine, Tepp William H, Bradshaw Marite, Kalb Suzanne R, Dykes Janet K, Lin Guangyun, Nawrocki Erin M, Pier Christina L, Barr John R, Maslanka Susan E, Johnson Eric A mSphere 0 0 0. (1) . - Human tuberculosis caused by Mycobacterium bovis in the United States, 2006-2013.
Scott Colleen, Cavanaugh Joseph S, Pratt Robert, Silk Benjamin J, LoBue Philip, Moonan Patrick K Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 6 0. . - Association of MHC region SNPs with irritant susceptibility in healthcare workers.
Yucesoy Berran, Talzhanov Yerkebulan, Michael Barmada M, Johnson Victor J, Kashon Michael L, Baron Elma, Wilson Nevin W, Frye Bonnie, Wang Wei, Fluharty Kara, Gharib Rola, Meade Jean, Germolec Dori, Luster Michael I, Nedorost Susan Journal of immunotoxicology 2016 6 0. 1-7. - Comparative genomics of Campylobacter fetus from reptiles and mammals reveals divergent evolution in host-associated lineages.
Gilbert Maarten J, Miller William G, Yee Emma, Zomer Aldert L, van der Graaf-van Bloois Linda, Fitzgerald Collette, Forbes Ken J, Méric Guillaume, Sheppard Samuel K, Wagenaar Jaap A, Duim Birgitta Genome biology and evolution 2016 6 0. . - Strain-Specific Virolysis Patterns of Human Noroviruses in Response to Alcohols.
Park Geun Woo, Collins Nikail, Barclay Leslie, Hu Liya, Prasad B V Venkataram, Lopman Benjamin A, Vinjé Jan PloS one 2016 0 0. (6) e0157787. - Molecular survey of arthropod-borne pathogens in sheep keds (Melophagus ovinus), Central Europe.
Rudolf Ivo, Betášová Lenka, Bischof Vlastimil, Venclíková Kristýna, Blažejová Hana, Mendel Jan, Hubálek Zdenek, Kosoy Michael Parasitology research 2016 6 0. . - 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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