Genomics & Health Impact Update
Volume 31 Number 25 December 24 - January 9, 2014About the Update
Contents of the week
- Family History & the Holidays
- Hereditary Breast & Ovarian Cancer
- Pathogen Genomics & Public Health
- The Microbiome in Health & Disease
- Genomics Translation: The Road Less Traveled
- Genome Sequencing in the Clinic
- Heart Disease & Genomics
- Diabetes prevention & family history
- Lynch Syndrome Universal Screening
Assessing Genomic Sequencing Information for Health Care Decision Making: A Workshop
Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health
February 3 ~ Washington, DC
Cancer Epigenetics (Q1)
February 4-9 ~ Santa Fe, NM
Genomic Disorders 2014: The Genomics of Rare Diseases
March 5-7 ~ Cambridge, UK
European Summer School on Nutrigenomics
September 1-5 ~ Camerino, Italy
NIH seeks funding applications for data coordination and integration center, Genome Web, Dec 13 [by free subscription only]
Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations
Hongmei Nan, et al. JNCI, Dec 7
BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface
Lee AJ, et al. Br J Cancer 2013 Dec
Cancer genetic counselor information needs for risk communication: A qualitative evaluation of interview transcripts
Overby CL, et al. J Pers Med 2013;3(3)
Consortium launches genotyping effort
Cancer Discov 2013 Dec;3(12):1321-2
Network formed to discover new cancer susceptibility variants, NCI Cancer Epidemiology Matters News, Dec 2013
Do BRCA1 and BRCA2 mutation carriers have earlier natural menopause than their noncarrier relatives? Results from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer.
Collins IM, et al. J Clin Oncol. 2013 Nov 1;31(31):3920-5.
Identifying potential cancer driver genes by genomic data integration
Yong Chen et al. Nature, 2013 Dec 18
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations
Conner JR, et al. Gynecol Oncol 2013 Dec
Optimizing recruitment to a prostate cancer surveillance program among male BRCA1 mutation carriers: invitation by mail or by telephone
Galor A, et al. Hered Cancer Clin Pract 2013 Dec;11(1):17
When will genomics cure cancer? A conversation with the biogeneticist Eric S. Lander about how genetic advances are transforming medical treatment, by James Fallows, the Atlantic, Dec 22
In BRCA, tamoxifen may reduce contralateral breast cancer risk, Clinical Oncology, Dec 2013
Angelina didn't help educate people about breast cancer risk, by Maanvi Singh, National Public Radio Dec 20
Communication and technology in genetic counseling for familial cancer.
Lynch HT, et al Clin Genet. 2013 Nov 8
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Gastroenterology. 2013 Dec 9
Risk management options elected by women after testing positive for a BRCA mutation
Garcia C, et al. Gynecol Oncol 2013 Dec
Anticipate and Communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts, [PDF 1.73 MB] Presidential Commission for the Study of Bioethical Issues, Dec 2013
US Bioethics Commission report on incidental findings, PHG Foundation, Dec 17
The Bioethics Commission on Incidental Findings
Amy Gutmann, Science, December 13
Characteristics associated with informed consent for genetic studies in the ACCORD trial
Simons-Morton DG, et al. Contemp Clin Trials 2013 Dec
Medics should plan ahead for incidental findings- US bioethics commission weighs in on debate over how scientists and companies should handle inadvertent discoveries in diagnostic tests.
Erika Check Hayden, Nature Dec 12
Mining the human genome after Association for Molecular Pathology v. Myriad Genetics
Barbara J Evans, Genetics in Medicine, Dec 19
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases
Kleiderman E, et al. J Med Ethics 2013 Dec
Who should control genomic data?
Am J Med Genet A 2014 Jan;164(1): x–xi
ELSI* and the implemention of WGS / WES in clinical practice, PHG Foundation, Dec 17
David vs Goliath. But who is who? Stephan Struve, Genome Alberta, Dec 3
Family history of premature cardiovascular disease: blood pressure control and long-term mortality outcomes in hypertensive patients
Williamson C, et al. Eur Heart J. 2013 Dec 15.
First patients with rare inherited diseases are sequenced by Genomics England, Genomics England, Dec 20
The Angelina effect: immediate reach, grasp, and impact of going public.
Dina L.G. Borzekowski et al. Genetics in Medicine, Dec 19
Angelina Jolie’s faulty gene: newspaper coverage of a celebrity’s preventive bilateral mastectomy in Canada, the United States, and the United Kingdom.
Kalina Kamenova et al. Genetics in Medicine, December 19
Realising genomics in clinical practice, PHG Foundation, Dec 17
Effects of undergoing multiplex genetic susceptibility testing on parent attitudes towards testing their children
Madeo AC, et al. Ann Behav Med 2013 Dec
Whole-exome sequencing emerges as clinical diagnostic tool: Testing method proves useful for diagnosing wide range of genetic disorders
Levenson D Am J Med Genet A 2014 Jan;164(1):ix-x
Genetic testing may help direct treatment in epilepsy, Medscape, Dec 17 [by free subscription only]
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013
Krausz C, et al. Andrology 2014 Jan;2(1):5-19
Screening newborns for disease can leave families in limbo, by Nell Greenfieldboyce, National Public Radio, Dec 23
Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation
Bloss CS, et al. J Med Genet 2013 Dec
Pharmacogenomics primer course for first professional year pharmacy students
Nickola TJ & Munson AM Pharmacogenomics 2014 Jan;15(1):39-48
Cystic fibrosis carrier screening in a North American population
Zvereff VV, et al. Genet Med 2013 Dec
Genetic counselors' experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy
Horsting JM, et al. J Genet Couns 2013 Dec
Non-invasive method devised to sequence DNA of human eggs. The procedure could aid assisted reproduction, by Erika Check Hayden, Nature News, Dec 19
Prenatal beta-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice
Cousens NE, et al. Prenat Diagn 2013 Dec
Application of personalized medicine to chronic disease: a feasibility assessment
Dorfman R, et al. Clin Transl Med 2013 Dec;2(1):16
EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome
Haessler F, et al. BMC Psychiatry 2013 Dec;13(1):339
Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes
Shirts BH, et al. Genet Med 2013 Dec
A molecular marker of artemisinin-resistant Plasmodium falciparum malaria
Ariey F, et al. Nature 2013 Dec 18
Meta-analysis of gene-level tests for rare variant association
Liu D, et al. Nature Genetics 2013 Dec 15
New genetic analysis method holds promise for understanding causes of disease, Medical Xpress, Dec 17
Proteome-wide analysis and CXCL4 as a biomarker in systemic sclerosis
Bon L,et al. New Engl J of Med 2013 Dec 18
Resistance gene identified in malaria parasite, by Ewen Callaway, Nature, Dec 18
The emerging agenda of stratified medicine in neurology.
Paul M. Matthews Nature Reviews Neurology, Dec 10
Post-GWAS: where next? More samples, more SNPs or more biology? P Marjoram et al. Heredity, Jan 2014
A doctor’s intimate view of hemophilia, Claudia Dreifus, New York Times, Dec 23
Doing the genomic revolution right, by Trisha Page, Huffington Post, Dec 20
Gene research follows the crowd- GeneTalk links rare-disease geneticists, stokes collaborations, by Alex Philippidis, GEN Blog, Dec 19
Medicine in the genomic era, Howard Hughes Medical Institute Biointeractive Series
Participatory medicine: a driving force for revolutionizing healthcare
Leroy Hood and Charles Auffray Genome Medicine, December 2013
365 days: 2013 in review, Nature News, Dec 18
European bioinformatics infrastructure ELIXIR launched, by Philippa Brice, PHG Foundation, Dec 18
The start of a journey, Ewan's Blog-Bioinformatician at large, Dec 17
Smoking changes our genes, Uppsala University, Dec 17
Author post: Joint analysis of functional genomic data and genome-wide association studies of 18 human traits, Joe Pickrell, Haldane’s Sieve, Dec 16
Dual 'hidden' meaning within DNA code discovered, by Philippa Brice PHG Foundation, Dec 16
Harvard geneticist George Church on genome testing: “I wouldn’t wait. I didn’t wait.” By Callum Borchers, Boston Globe, Dec 13
Charting the RNA epigenome, Leah Eisenstadt, Broad Institute Blog, Dec 13
Education in Computational Biology Today and Tomorrow, PloS Computational Biology, Dec 13
Utah Genome Project aims to sequence several thousand individuals from variety of disease cohorts, Genome Web, Dec 11 [by free subscription only]
CDC authors are indicated in bold
Recommendations for returning genomic incidental findings? We need to talk!
Burke W, Matheny Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. Genet Med. 2013 Nov;15(11):854-9.
Identification of vaccine-derived polioviruses using dual-stage real-time RT-PCR.
Kilpatrick DR, Ching K, Iber J, Chen Q, Yang SJ, De L, Williams AJ, Mandelbaum M, Sun H, Oberste MS, Kew OM. J Virol Methods. 2013 Dec 6.
Personal history of diabetes, genetic susceptibility to diabetes, and risk of brain glioma: a pooled analysis of observational studies
Kitahara CM, Linet M, Brenner AV, Wang SS, Melin B, Wang Z, Inskip PD, Beane Freeman L, Braganza MZ, Carreon T, Feychting M, Gaziano JM, Peters U, Purdue MP, Ruder A, Sesso HD, Shu XO, Waters M, White E, Zheng W, Hoover RN, Fraumeni JF, Chatterjee N, Yeager M, Chanock SJ, Hartge P, Rajaraman P. Cancer Epidemiol Biomarkers Prev. 2013 Nov 12.
Epigenetic research in cancer epidemiology: Trends, opportunities, and challenges.
Verma M, Rogers S, Divi RL, Schully SD, Nelson S, Su LJ, Ross S, Pilch S, Winn DM, Khoury MJ. Cancer Epidemiol Biomarkers Prev. 2013 Dec 10
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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