Genomics & Health Impact Update
Volume 30 Number 18 May 2-9, 2013
Online Human Genomic Databases for Health Research & Practice
The Human Genome Epidemiology Navigator (HuGE Navigator):
- The Human Genome Epidemiology Navigator (HuGE Navigator): An online continuously update curated database of epidemiologic studies of human genetic variation in relation to human diseases
- GWAS Integrator: Provides robust lookup and analytic functionalities for all published GWAS studies that are available in several databases
The Genomic Applications in Practice and Prevention Knowledge Base (GAPPKb)
- The Genomic Applications in Practice and Prevention Knowledge Base (GAPPKb): Online resource providing access to information on applications of genomic research for use in public health and health care
- The GAPP Finder: A searchable database of genetic tests and applications in transition from research to clinical and public health practice
- Evidence Aggregator: Database of information on genomic tests and applications is collected from various sources of summaries, reviews, guidelines and recommendations
- CDC Article: Horizon scanning for new genomic tests. Gwinn M et al. Genetics in Medicine
NIH Genetic Testing Registry (GTR)
- The GTR is housed at the National Center for Biotechnology Information - it has info on 3000 genetic tests for 2100 diseases- Check it out
- NIH director’s blog: An evolving app for genetic tests, Apr 30
- CDC information: The big push to defeat malaria
- CDC information: Human genetic factors and malaria
- CDC information: Protective effects of sickle cell trait against malaria-associated mortality and morbidity
- Malaria diagnostics and surveillance in the post-genomic era: A review
Lucchi N, Oberstaller L, Kissinger J, et al. Public Health Genomics, 2013;16:37-43
- Since 2001, 206 genes have been reported in relation to risk of malaria and its outcomes, including 7 genomewide association studies. Find out more using the HuGENavigator
- CDC information: The value of vaccination
- CDC information: Protect your baby with immunization
- CDC information: Vaccine safety and human genetic variation
- Review: on Genomic sequencing in pre- and clinical vaccine research
Prachi P et al. Public Health Genomics, 2013;16-:62-68
- Did you know that 228 publications have reported on genetic factors in vaccine health effects in populations, including 9 genomewide association studies. To find out more visit the HuGE Navigator
DNA at Age 60
- DNA at 60: Still much to learn. On the diamond jubilee of the double helix, we should admit that we don't fully understand how evolution works at the molecular level. By Philip Ball and Nature magazine. Scientific American, Apr 28
- Blog post: DNA’s double anniversary By Dr. Francis Collins, NIH Director, Apr 25
- DNA sequencing costs- data from the NHGRI genome sequencing program
- DNA day contest winners: American Society for Human Genetics, Apr 25
- CDC information: Nearly a half million babies in the United States—that's 1 out of every 9—are born premature each year
- A risk factor for premature birth is having a previous premature birth, from the Mayo Clinic
- CDC information: Preterm birth information: My last baby was born early. Is there anything I can do in this pregnancy to keep it from happening again?
- Genetic and environmental factors both play a role in increasing the risk of prematurity
- The genomics of preterm birth: from animal models to human studies.
Katherine Y Bezold et al. Genome Medicine 2013, 5:34 (29 April 2013)
- Since 2001, 461 genes have been reported in relation to risk of premature birth including 115 genomewide association studies To find out more, visit the HuGE Navigator
May is Asthma Awareness Month
- CDC information: Learn to control your asthma
- CDC asthma public health information
- NHLBI information: What causes asthma? Family history and genetic factors play a role
- Did you know that 1054 genes have been reported in relation to the risk of asthma including 61 genomewide association studies. To find out more, visit the HuGE Navigator
May is Arthritis Awareness Month
- CDC information: It is the perfect time to pump up your physical activity
- CDC arthritis public health information: Arthritis is the most common cause of disability in the United States
- CDC information: Arthritis risk factors including specific genetic factors
- There are 100+ forms of arthritis. Osteoarthritis and rheumatoid arthritis are most common, Mayo Clinic
Did you know that 1360 genes have been reported in relation to the risk of arthritis including 124 genomewide association studies. To find out more, visit the HuGE Navigator.
May is High Blood Pressure Month
- CDC feature: When it comes to blood pressure, make control your goal
- CDC information: Learn about high blood pressure and its risk factors including genetics
Risk factors for high blood pressure include family history. [PDF 94.84 KB] Collect and act on your family history to cut your risk from high blood pressure
From the HuGE Navigator: 1537 genes have been reported with hypertension, including 76 genomewide association studies.
- CDC and Emory University course: Translational Research in Genomic Medicine, Emory University, Atlanta, Georgia, August 15-16, 2013
A 2-day multi-disciplinary course on establishing the validity and utility of genomic applications in clinical medicine and disease prevention. Register now
2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening: 50 Years of Newborn Screening- Celebrating the Past and Preparing for the Future, [PDF 2.80 MB] Atlanta, GA May 5–10, 2013
- National Coalition for Health Professional Education in Genetics: Integrating genetics and genomics into your pediatric primary care practice August 9-10, 2013 Chicago, Illinois
- International Genetic Epidemiology Society Annual Meeting, Chicago, September 15-17, Illinois
A prospective clinical utility and pharmacoeconomic study of the impact of the 21-gene Recurrence Score® assay in oestrogen receptor positive node negative breast cancer
Davidson JA, et al. Eur J Cancer 2013 Apr
The Beginning of the End of the Beginning in Cancer Genomics
Steensman D The New England Journal of Medicine 2013 May 1
BRCA1/2 sequence variants of uncertain significance: A primer for providers to assist in discussions and in medical management
Lindor NM, et al. Oncologist 2013 Apr
Evaluation of 2-year experience with EGFR mutation analysis of small diagnostic samples
Hlinkova K, et al. Diagn Mol Pathol 2013 Apr
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
The Cancer Genome Atlas Research Network NEJM 2013 May 1
Implementation of tumor testing for Lynch syndrome in endometrial cancers at a large academic medical center
Moline J, et al. Gynecol Oncol 2013 Apr
Integrated genomic characterization of endometrial carcinoma
The Cancer Genome Atlas Research Network Nature 497, 67–73 2013 May 2
Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.
Helfand BT, Loeb S, Hu Q, et al. J Urol. 2013 May;189(5):1697-701.
- Researchers devise 'genetic correction' to improve PSA test ability to gauge prostate cancer risk, Genome Web, Apr 29 [by free subscription only]
Prediction of BRCA1 germ-line mutation status in patients with breast cancer using histoprognosis grade, MS110, Lys27H3, Vimentin, and KI67
Hassanein M, et al. Pathobiology 2013 Apr;80(5):219-27
Ethics, Policy & Law
- Self-guided management of exome and whole-genome sequencing results: Changing the results return model.
Joon-Ho Yu et al. Genetics in Medicine, Apr 25
- Professor re-identifies anonymous individuals from DNA database. HealthBeat, Apr 26
Family history, comorbidity and risk of thoracic aortic disease: a population-based case-control study
Olsson C, et al. Heart 2013 Apr
Impact of a family history of epilepsy on the diagnosis of epilepsy in southern Saudi Arabia
Babtain FA Seizure 2013 Apr
Clinical utility gene card for: Alstrom syndrome - update 2013
Marshall JD, et al. Eur J Hum Genet 2013 Apr
Guidelines and Recommendations
- ACMG position statement on prenatal/preconception expanded carrier screening.
Grody W, et al. Genetics in Medicine, Apr 25
- American College of Medical Genetics and Genomics technical standards and guidelines: Microarray analysis for chromosome abnormalities in neoplastic disorders
Linda D. Cooley et al. Genetics in Medicine, Apr 25
Clinical Neuropathology Practice Guide 3-2013: Levels of evidence and clinical utility of prognostic and predictive candidate brain tumor biomarkers
Berghoff AS, et al. Clin Neuropathol 2013 May-2013 Jun;32(3):148-58
Best ethical practices for clinicians and laboratories in the provision of non-invasive prenatal testing
Allyse MA, et al. Prenat Diagn 2013 Apr
Public Health Sciences
Prevalence of Alzheimer's pathologic endophenotypes in asymptomatic and mildly impaired first-degree relatives
Lampert EJ, et al. PLoS One 2013;8(4):e60747
Reviews and Commentaries on Science & Technology
- Health care leaders push for 'precision medicine', KQED Apr 30
- The impact of genomics in the practice of medicine Video from the GET Conference 2013
- Genomics and outbreak investigation: from sequence to consequence.
Esther R Robinson et al. Genome Medicine, Apr 2013
- Intestinal microbes and heart disease -- we are what we eat. Mermaid’s tale blog Apr 26
- Microbes: The trillions of creatures governing your health. By Richard Conniff. Smithsonian magazine, May 2013
- How big data will save your life. Even as patient information moves to electronic records, important data is often siloed. By Lucas Mearian, ComputerWorld, Apr 25
- DNA: the 'smartest' molecule in existence? By Jennifer Green and Dhruti Shah, BBC Science, Apr 24
Tools and Databases
- Reg4All: A new system for connecting health information Video presentation from GET Conference 2013
- Disease gene prioritization. Yana Bromberg. PloS Computational Biology Apr 2013
- My CancerGenome: Database of genomically informed cancer medicine
US cancer-genome repository hopes to speed research, by Erika Check Hayden, Nature New Blog, May 2
Western Database of Lipid Variants (WDLV): A catalogue of genetic variants in monogenic dyslipidemias
Fu J, et al. Can J Cardiol 2013 Apr
CDC authors are indicated in bold
The arrival of genomic medicine to the clinic is only the beginning of the journey
Evans JP, Khoury MJ. Genet Med. 2013 Apr;15(4):268-9.
Genetic relatedness of dengue viruses in Key West, Florida, USA, 2009-2010
Munoz-Jordan JL, Santiago GA, Margolis H, Stark L. Emerg Infect Dis. 2013 ;19(4):652-654.
Genetic variability and the classification of hepatitis E virus
Smith DB, Purdy MA, Simmonds P. J Virol. 2013 Apr;87(8):4161-9.
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