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July 14-20, 2016
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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
- Clinical utility gene card for: Aniridia.
Richardson Rose et al. European journal of human genetics : EJHG 2016 Jul - Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi Aisha et al. Orphanet journal of rare diseases 2016 11(1) 94
Cancer
- Family History and Probability of Prostate Cancer, Differentiated by Risk Category: A Nationwide Population-Based Study.
Bratt Ola et al. Journal of the National Cancer Institute 2016 Oct 108(10) - Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.
Hermel David J et al. Familial cancer 2016 Jul - The Role of Knowledge on Genetic Counseling and Testing in Black Cancer Survivors at Increased Risk of Carrying a BRCA1/2 Mutation.
Hurtado-de-Mendoza Alejandra et al. Journal of genetic counseling 2016 Jul - Heather Hampel, MS, LGC, Highlights How Genetics Are Changing Cancer Treatment,
Ohio State University Comprehensive Cancer Center-James Cancer Hospital & Solove Research Institute, You Tube, June 30, 2016 - Longitudinal Study Charts Brain Tumor Evolution
A Blum, NCI, TCGA, July 8, 2016 - Advances in Melanoma Treatment
Genome Magazine, Summer 2016 - Genetic testing can help deliver precision medicine to men with advanced prostate cancer
Science News, July 7, 2016 - Economic impact of 21-gene recurrence score testing on early-stage breast cancer in Ireland.
Smyth Lillian et al. Breast cancer research and treatment 2015 Oct 153(3) 573-82 - A Risk-Scoring System Combined With a Fecal Immunochemical Test Is Effective in Screening High-Risk Subjects for Early Colonoscopy to Detect Advanced Colorectal Neoplasms.
Chiu Han-Mo et al. Gastroenterology 2016 Mar 150(3) 617-625.e3 - Individualized Mutation Detection in Circulating Tumor DNA for Monitoring Colorectal Tumor Burden Using a Cancer-Associated Gene Sequencing Panel.
Sato Kei A et al. PloS one 2016 11(1) e0146275 - EGFR Testing in Advanced Non-Small-Cell Lung Cancer, A Mini-Review.
Sheikine Yuri et al. Clinical lung cancer 2016 Jun - Development of a clinical decision support system using genetic algorithms and Bayesian classification for improving the personalised management of women attending a colposcopy room.
Bountris Panagiotis et al. Healthcare technology letters 2016 Jun 3(2) 143-9 - Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.
Erten Mujde Z et al. Digestive diseases and sciences 2016 Jul - Biomarker Signatures of Prostate Cancer
NIH Research Matters, July 12, 2016 - Next-generation sequencing in patients with advanced cancer: are we ready for widespread clinical use? A single institute's experience.
Grenader Tal et al. Anti-cancer drugs 2016 Jul - Genomic Impact of Neoadjuvant Therapy on Breast Cancer: Incomplete Response is Associated with Altered Diagnostic Gene Signatures.
Beitsch Peter et al. Annals of surgical oncology 2016 Jul - Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients: protocol of a controlled prospective clinical observational study.
Erim Yesim et al. BMC cancer 2016 16408 - Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the "Angelina Jolie Effect".
Staudigl Christine et al. BMC cancer 2016 16436 - Clinician-Reported Barriers to Implementing Breast Cancer Chemoprevention in the UK: A Qualitative Investigation.
Smith Samuel G et al. Public health genomics 2016 Jul
Chronic Diseases
- Diabetes: Still a geneticist's nightmare.
Rich Stephen S et al. Nature 2016 Jul - Genetics of diabetes remains complex
J Harris, PHG Foundation, July 12, 2016 - Genetics of type 2 diabetes revealed in unprecedented detail
Broad Institute, July 11, 2016 - Gut Bacteria Can Cause, Predict and Prevent Rheumatoid Arthritis
S Rosen, Mayo Clinic Blog, July 12, 2016 - Common vs rare, shared vs unique: a century of debate
M McCarthy blog post, July 2016 - International “Big Data” Study Offers Fresh Insights into T2D
Francis Collins NIH director blog, July 12, 2016 - Monogenic Diabetes: Implementation of translational genomic research towards precision medicine.
Vaxillaire Martine et al. Journal of diabetes 2016 Jul - Smoking and caffeine consumption: a genetic analysis of their association.
Treur Jorien L et al. Addiction biology 2016 Mar - Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
Mariani Louise-Laure et al. JAMA neurology 2016 Jul
Ethics, Policy and Law
- A framework for analyzing the ethics of disclosing genetic research findings.
Eckstein Lisa et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(2) 190-207
Genomics in Practice
- Embracing Complex Associations in Common Traits: Critical Considerations for Precision Medicine.
Hall Molly A et al. Trends in genetics : TIG 2016 Jul - Telomere Length and the Cancer-Atherosclerosis Trade-Off.
Stone Rivka C et al. PLoS genetics 2016 Jul 12(7) e1006144 - President Obama’s 1-million-person health study kicks off with five recruitment centers
J Kaiser, Science, July 2016 - Genetic Testing for Sports Performance, Responses to Training and Injury Risk: Practical and Ethical Considerations.
Williams Alun G et al. Medicine and sport science 2016 61105-19 - A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.
Duncavage Eric J et al. Archives of pathology & laboratory medicine 2016 Jul - Choices of Incidental Findings of Individuals Undergoing Genome Wide Sequencing, a Single Center's Experience.
Bishop Callie L et al. Clinical genetics 2016 Jul
Cardiovascular Diseases
- Statins in Heterozygous Familial Hypercholesterolemia
American College of Cardiology Foundation, July 11, 2016 - Long-Term Risk of Atherosclerotic Cardiovascular Disease in US Adults With the Familial Hypercholesterolemia Phenotype.
Perak Amanda M et al. Circulation 2016 Jul 134(1) 9-19 - Translational Research for Improving the Care of Familial Hypercholesterolemia: The "Ten Countries Study" and Beyond.
Watts Gerald F et al. Journal of atherosclerosis and thrombosis 2016 Jul - Heterozygous familial hypercholesterolemia hastens risk for CHD
Healio, July 7, 2016 - Systematic Review of Low-Density Lipoprotein Cholesterol Apheresis for the Treatment of Familial Hypercholesterolemia.
Wang Anthony et al. Journal of the American Heart Association 2016 5(7) - Diagnostic scoring for familial hypercholesterolaemia in practice.
Haralambos Kate et al. Current opinion in lipidology 2016 Aug 27(4) 367-74
Newborn Screening
- The Influence of Education on Public Trust and Consent Preferences With Residual Newborn Screening Dried Blood spots.
Rothwell Erin et al. Journal of empirical research on human research ethics : JERHRE 2016 Jul - Molecular newborn screening of four genetic diseases in Guizhou Province of South China.
Huang Shengwen et al. Gene 2016 Jul
Reproductive Health
- A genomic tool for better antenatal care
Genomics Education UK, July 11, 2016 - Awareness among Parents of β-Thalassemia Major Patients Regarding Prenatal Diagnosis and Premarital Screening in Day Care Centre of Transfusion Medicine Department.
Rudra S et al. Mymensingh medical journal : MMJ 2016 Jan 25(1) 12-7 - Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis.
Majumdar Gaurav et al. Journal of human reproductive sciences 9(2) 94-100 - Ethical issues in preconception genetic carrier screening.
Kihlbom Ulrik et al. Upsala journal of medical sciences 2016 Jul 1-4 - Carrier screening for beta-thalassemia in the Maldives: perceptions of parents of affected children who did not take part in screening and its consequences.
Waheed Fazeela et al. Journal of community genetics 2016 Jul
Pharmacogenomics
- Challenges of development and implementation of point of care pharmacogenetic testing.
Haga Susanne B et al. Expert review of molecular diagnostics 2016 Jul - Implementing algorithm-guided warfarin dosing in an ethnically diverse patient population using electronic health records and pre-emptive CYP2C9 and VKORC1 genetic testing.
Obeng Aniwaa Owusu et al. Clinical pharmacology and therapeutics 2016 Jul
News/Reviews/Commentaries
- Genetic Counselors Are Essential in Genetic Testing for Lynch Syndrome,
by Georgia Hurst, Cure, July 6, 2016 - FDA Releases Draft Guidances on Next-Generation Sequencing,
by Laura Panjwani, OncLive, July 7, 2016 - Researchers make advance in possible treatments for Gaucher, Parkinson's diseases,
NHGRI. July 12, 2016 - Why You Should Think Twice About At-Home Genetic Testing,
by Pim Suwannarat, U.S. News & World Report, July 11 - For Coffee Drinkers, the Buzz May Be in Your Genes,
By Anahad O'Connor, the New York Times, July 12, 2016 - Carl Zimmer’s Game of Genomes Season 1,
Stat News, July 12, 2016 - White House Proposes Measures to Speed Genomic Test Development,
by Toni Clarke, Medscape, July 8, 2016 - The Unbearably Slow Adoption of Genetic Cancer Tests,
by Ed Yong, the Atlantic, July 12, 2016
CDC-Authored Genomics Publications
- Cryptosporidium species and C. parvum subtypes in dairy calves and goat kids reared under traditional farming systems in Turkey.
Taylan-Ozkan Aysegul, Yasa-Duru Sibel, Usluca Selma, Lysen Colleen, Ye Jianbin, Roellig Dawn M, Feng Yaoyu, Xiao Lihua Experimental parasitology 2016 6 0. . - Risk Factors for Herpes Zoster Among Adults.
Marin Mona, Harpaz Rafael, Zhang John, Wollan Peter C, Bialek Stephanie R, Yawn Barbara P Open forum infectious diseases 2016 9 0. (3) ofw119. - Live virus vaccines based on a vesicular stomatitis virus (VSV) backbone: Standardized template with key considerations for a risk/benefit assessment.
Clarke David K, Hendry R Michael, Singh Vidisha, Rose John K, Seligman Stephen J, Klug Bettina, Kochhar Sonali, Mac Lisa Marie, Carbery Baevin, Chen Robert T, Vaccine 2016 7 0. . - Molecular and Growth-Based Drug Susceptibility Testing of Mycobacterium tuberculosis Complex for Ethambutol Resistance in the United States.
Yakrus Mitchell A, Driscoll Jeffrey, McAlister Allison, Sikes David, Hartline Denise, Metchock Beverly, Starks Angela M Tuberculosis research and treatment 2016 0 0. 3404860. - Complete Genome Sequences of 11 Haemophilus ducreyi Isolates from Children with Cutaneous Lesions in Vanuatu and Ghana.
Pillay Allan, Katz Samantha S, Abrams A Jeanine, Ballard Ronald C, Simpson Shirley V, Taleo Fasihah, Lahra Monica M, Batra Dhwani, Rowe Lori, Trees David L, Asiedu Kingsley, Chen Cheng-Yen Genome announcements 2016 0 0. (4) . - Maternal colonisation with Streptococcus agalactiae, and associated stillbirth and neonatal disease in coastal Kenya.
Seale Anna C, Koech Angela C, Sheppard Anna E, Barsosio Hellen C, Langat Joyce, Anyango Emily, Mwakio Stella, Mwarumba Salim, Morpeth Susan C, Anampiu Kirimi, Vaughan Alison, Giess Adam, Mogeni Polycarp, Walusuna Leahbell, Mwangudzah Hope, Mwanzui Doris, Salim Mariam, Kemp Bryn, Jones Caroline, Mturi Neema, Tsofa Benjamin, Mumbo Edward, Mulewa David, Bandika Victor, Soita Musimbi, Owiti Maureen, Onzere Norris, Walker A Sarah, Schrag Stephanie J, Kennedy Stephen H, Fegan Greg, Crook Derrick W, Berkley James A Nature microbiology 2016 7 0. (7) . - Genome-scale comparison of expanded gene families in Plasmodium ovale wallikeri and Plasmodium ovale curtisi with Plasmodium malariae and with other Plasmodium species.
Ansari Hifzur Rahman, Templeton Thomas J, Subudhi Amit Kumar, Ramaprasad Abhinay, Tang Jianxia, Lu Feng, Naeem Raeece, Hashish Yasmeen, Oguike Mary C, Benavente Ernest Diez, Clark Taane G, Sutherland Colin J, Barnwell John W, Culleton Richard, Cao Jun, Pain Arnab International journal for parasitology 2016 7 0. . - The use of whole genome sequencing for detecting antimicrobial resistance in nontyphoidal Salmonella.
McDermott Patrick F, Tyson Gregory H, Kabera Claudine, Chen Yuansha, Li Cong, Folster Jason P, Ayers Sherry L, Lam Claudia, Tate Heather P, Zhao Shaohua Antimicrobial agents and chemotherapy 2016 7 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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