Genomics & Health Impact Update
Volume 31 Number 14 September 30 - October 12, 2013About the Update
What is EGAPP? An evidence-based approach to genomic medicine
EGAPP recommendation: Does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?
Genetics in Medicine 2013 Sep 26
EGAPP review: Testing of CYP2C19 variants and platelet reactivity for guiding antiplatelet treatment, AHRQ, Evidence Reviews, Sep 25
EGAPP initiative: Lessons learned, 2005-2012
Perspective from the National Cancer Institute: The benefits of looking across many cancer genomes.
The Cancer Genome Atlas Pan-Cancer analysis project, Nature Genetics, Sep 27
Focus on TCGA pan cancer analysis, by Orli Bahcall, Nature Genetics Free Association blog, Sep 27
Cancer cartography- Mapping the DNA of thousands of tumours will help understand them, The Economist, Sep 28
A field maturing: The 2013 Consumer Genetics Conference, Bio IT World, Sep 30
Impact of direct-to-consumer genomic testing at long term follow-up.
Bloss CS, et al J Med Genet. 2013 Jun;50(6):393-400
Characteristics of genomic test consumers who spontaneously share results with their health care provider.
Darst BF, et al Health Commun. 2013
Scientific foundation for personal genomic tests: recommendations for action
Khoury MJ, Genetics in Medicine 2009
CDC blog post: Think after you spit, personal genomic tests & teachabe moment (2012)
Genetics in Medicine series on integration of genomics into electromic health records.
The undiscovered country: the future of integrating genomic information into the EHR
Joseph Kannry MD and Marc S. Williams MD, Genetics in Medicine, Sep 26
Processes and factors involved in decisions regarding return of incidental genomic findings in research
Robert Klitzman et al. Genetics in Medicine, Sep 26
Practical challenges in integrating genomic data into the electronic health record. Abel N. Kho et al. Genetics in Medicine, Sep 26
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record
Peter Tarczy-Hornoch et al. Genetics in Medicine, Sep 26
NHGRI Division of Genome Medicine plans, directs, funds and facilitates multi-disciplinary research to identify and advance approaches for the use of genomic data to improve diagnosis, treatment and prevention of disease
CDC paper: Beyond base pairs to bedside: A population approach for using genomics to improve health.
Khoury MJ, et al. Am J Publ Health 2012
CDC paper: The arrival of genomic medicine to the clinic is only the beginning of the journey. [PDF 165.38 KB]
Evans J, et al. Genetics in Medicine, 2013
Global public health in an age of genomics, by Dr Philippa Brice, PHG Foundation, Sep 30
The public health benefits of genomics in the control of infectious diseases (notably diagnosis, outbreak monitoring and accelerated vaccine design) are becoming very evident;
CDC blog post: Genomes at CDC, man, mouse and microbes (2013)
My Family Health Protrait: A tool from the Surgeon General, collect your family history in Spanish
Diabetes brochure in Spanish: Family history and diabetes-Take steps towards better health!
Genomic health disparities, Type 2 diabetes and Mexican-Americans
Liliana Uribe-Bruce et al. Endoc Reviews (2012)
Did you know? 1758 genes have been reported with HIV Infections, risk and outcomes, including 27 genomewide association studies. The top reported genes are CCR5 and HLA-B. To find out more, visit the HuGE Navigator
HLA-B*5701 testing to predict abacavir hypersensitivity in HIV treatment
Joseph D. Ma, Kelly C. Lee, and Grace M. Kuo PLoS Currents Evidence on Genomic Tests.
Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing (2012), Clinical Pharmacology & Therapeutics
Genetics and Primary Care Institute webinar: Integrating Genetics in Your Practice: Overview of Genetic Testing and Screening. Oct 8
Education is key
Seton-Rogers S Nature Reviews Cancer 13, 680 2013 Sep 24
Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach.
Hartman DJ, et al. Hum Pathol. 2013 Sep 10.
Selective screening missed 13% of Lynch syndrome–associated colorectal cancers, The Oncology Report, Sep 24
Alderton GK Nature Reviews Cancer 13, 681 2013 Sep 24
Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers
Bosse K, et al. Arch Gynecol Obstet 2013 Sep
Validation of a proliferation-based expression signature as prognostic marker in early stage lung adenocarcinoma
Wistuba II, et al. Clin Cancer Res 2013 Sep
Draft NIH genomic data sharing policy request for public comments, a notice by the National Institutes of Health, Federal Register, Sep 20
Public consultation on NIH genomic data sharing policy, PHG Foundation, Sep 24
Ethical issues in infectious disease genomics, PHG Foundation, Sep 19
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
Facio FM, et al. Eur J Hum Genet 2013 Mar;21(3):261-5
Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia
Boyd HA, et al. Am J Epidemiol 2013 Sep
Collection of family health history for assessment of chronic disease risk in primary care
Powell KP, et al. N C Med J 2013 Jul-2013 Aug;74(4):279-86
Development and validation of a primary care-based family health history and decision support program (MeTree)
Orlando LA, et al. N C Med J 2013 Jul-2013 Aug;74(4):287-96
Actionable, pathogenic incidental findings in 1,000 participants exomes.
Michael O. Dorschner et al, Am J Human Genetics, Sep 19
Hereditary hemochromatosis: Missed diagnosis or misdiagnosis?
Cherfane CE, et al. Am J Med 2013 Sep
Opportunities for genomic clinical decision support interventions.
Casey Lynnette Overby et al, Genetics in Medicine, Sep 19
Predictive genetic testing for complex diseases: a public health perspective
Marzuillo C, et al. QJM 2013 Sep
Clinical utility gene card for: Cystinosis
Levtchenko E, et al. Eur J Hum Genet 2013 Sep
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Ostern R, et al. BMC Med Genet 2013 Sep;14(1):94
ACMG Standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
Sarah T. South et al. Genetics in Medicine, Sep 26
Ensuring the integrity of clinical practice guidelines: a tool for protecting patients
Lenzer J, et al. BMJ. 2013 Sep 17;347:f5535.
Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat (DG10), NICE, Sep 20
Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Northrup H, et al. Pediatric Neurology vol 49 iss 4 pg 243-254 2012 Oct
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Krueger D, et al. Pediatric Neurology vol 49 iss 4 pg 255-265 2012 Oct
Utility of integrated pharmacogenomic testing to support the treatment of major depressive disorder in a psychiatric outpatient setting.
Hall-Flavin DK et al, Pharmacogenet Ge. 2013 Oct;23(10):535-48.
Impact of CYP3A4*22 allele on tacrolimus pharmacokinetics in early period after renal transplantation: Toward updated genotype-based dosage guidelines
Elens L, et al. Ther Drug Monit 2013 Oct;35(5):608-16
A nondegenerate code of deleterious variants in mendelian loci contributes to complex disease risk.
David R. Blair et al. Cell, Sep 26
Diverse sources of C. difficile infection identified on whole-genome sequencing
Eyre D, et al. N Engl J Med 2013; 369:1195-1205 2013 Sep 26
The emergence of commercial genomics: Analysis of the rise of a biotechnology subsector during the Human Genome Project, 1990-2004
Wiechers IR, et al. Genome Med 2013 Sep;5(9):83
A host-based rt-PCR gene expression signature to identify acute respiratory viral infection.
Zaas AK, et al. Sci Transl Med. 2013 Sep 18;5(203):203ra126.
Distinguishing between viral and bacterial infections using genomic test, Medical News Today, Sep 20
A systematic approach to assessing the clinical significance of genetic variants.
Duzkale H, et al. Clin Genet. 2013 Sep 4.
Global public health in an age of genomics, by Dr Philippa Brice, PHG Foundation, Sep 30
The next-generation sequencing revolution and its impact on genomics [PDF 664.59 KB]
Daniel C. Koboldt et al. Cell. Sep 2013
Personalized medicine and genetic malpractice
Gary E. Marchant & Rachel A. Lindor Genetics in Medicine, Sep 26
Mapping human epigenomes.
Chloe M. Rivera, Bing Ren Cell, Sep 26
DNA takes mystery out of medicine- New field of genomics helped crack patient's baffling case and shed light on future of health care, by Jules Knox, The Province, Sep 26
A BRCA journey, PLoS Biologue, Sep 27
Different cancers, same mutations. Scientists document common genetic alterations in cancers of different origins, by Ruth Williams, The Scientist, Sept 26
Steve Jobs left a legacy on personalized medicine. A type of DNA test the Apple CEO hoped might save his life is becoming widely available, Antonio Regalado, MIT Technology Review, Sep 27
When will gene therapy come to the U.S.? Several gene therapies are or will soon be in late-stage human trials. One of them could be the first to get FDA approval for sale in the U.S., by Susan Young, MIT Reviews, Sep 30
Single-cell analysis: toward the clinic
Michael R Speicher Genome Med Aug 2013
Incidentally,...... (Interpreting incidental findings from DNA sequence data), by Anne Buchanan, The Mermaid's Tale, Sep 25
A dispatch from the genetic frontier, by Theo Bloom, PLos Blogs, Sep 24
The bursting of the big data bubble, Cathy O’Neill, September 22
Opinion: Translational research in crisis. Turning discoveries made in academic labs into innovative therapies requires a radically new approach. By Masoud H. Manjili, The Scientist, Sep 10
Opinion: Reasons for the R&D crisis. Response to an opinion in The Scientist charting current pitfalls in translational research. By Jan Brábek and Michael Fernandes, The Scientist, Sep 23
Gene therapy with a difference, The New York Times, Sep 23
Genomics: Why individualized medicine matters, by Angelina Reyes, UCONN Today, Sep 23
A unified GMDR method for detecting gene–gene interactions in family and unrelated samples with application to nicotine dependence.
Guo-Bo Chen, et al. Human Genetics 2013
The NCI Cancer Genomics and Epidemiology Navigator online searchable database: provides linked information on cancer genomics & epidemiology funding, publications, and genomic tests
CDC authors are indicated in bold
Collaborative cancer epidemiology in the 21st century: the model of cancer consortia.
Burgio MR Jr, Ioannidis JP, Kaminski BM, Derycke E, Rogers S, Khoury MJ, Seminara D.
Cancer Epidemiol Biomarkers Prev. 2013 Sep 19.
Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study—United States, 1997–2007
Jill Glidewell MSN, MPH, Jennita Reefhuis PhD, Sonja A. Rasmussen MD, MS, Alison Woomert PhD, Charlotte Hobbs MD, PhD, Paul A. Romitti PhD & Krista S. Crider PhD
Application of real time RT-PCR for the genetic homogeneity and stability tests of the seed candidates for live attenuated influenza vaccine production.
Shcherbik S, Sergent SB, Davis WG, Shu B, Barnes J, Kiseleva I, Larionova N, Klimov A, Bousse T. J Virol Methods. 2013 Sep 18.
Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from Lynch syndrome in the index case or her relatives.
Stewart A Phd. PLoS Curr. 2013 Sep 16;5.
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