Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update offers links to genomics news and publications relevant to population health and health care. The Update highlights family health history and genomic tests, along with relevant data, policy, and legislation. Please send your comments to: genetics@cdc.gov.
Thursday, March 15, 2012 Volume 28 Number 11
Highlights of the Week:
Spotlight

New Blog Post: The public health approach to genetic testing in the 21st century: Saving lives and saving unnecessary healthcare costs
- New report: “Personalized Medicine: Trends and prospects for the new science of genetic testing and molecular diagnostics"[PDF 703.72 KB]
- Spending on genetic tests is forecast to rise sharply by 2021
Announcements
- March is National Colorectal Cancer Awareness Month, CDC Feature
- Two new members of the EGAPP Working Group, with experience and expertise in pharmacogenomics and public health, will be selected in 2012. Nominate yourself or someone you know today!
- Blog Post: Can Sudden Cardiac Death of the Young be Prevented?
- NIH's GTR: Genetic Testing Registry
provides a central location for voluntary submission of genetic test information by providers.
- US health Institute launches genetic test database, Bio News, March 5
- Confused by genetic tests? NIH’s new online tool may help, NIH News, February 29
- New NIH database brings clarity to genetic tests, Science Insider, February 29
Genomic Pulse
- Between September 1, 2009 and March 15, 2012, The CDC has tracked 419 new genomic tests that are been proposed for use in clinical practice. To find out more, visit the GAPP Finder page.
Picks of the Week
- Daily aspirin reduces colorectal cancer risk in patients with Lynch syndrome
- Daily aspirin reduces colorectal cancer incidence in patients with Lynch syndrome
Barton MK CA Cancer J Clin 2012 Mar
- Daily aspirin reduces colorectal cancer incidence in patients with Lynch syndrome
- Predictive genetic testing in minors for late-onset conditions
- Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments
Mand C, et al. J Med Ethics 2012 Mar
- Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments
- Whole Genome Sequencing and the Physician
- Whole Genome Sequencing and the Physician
Thorogood A, et al. Clin Genet 2012 Mar
- Whole Genome Sequencing and the Physician
- Recommendations for Genetic Testing of Inherited Eye Diseases
- Ophthalmologists receive new genetic testing guidelines, Medscape, March 13
- Recommendations for Genetic Testing of Inherited Eye Diseases
American Academy of Ophthalmology
- Race and genetics in the doctor’s office
- Race and genetics in the doctor’s office, CMAJ, March 13
- Whole-genome sequencing infringes gene patents: myth or reality?
- Debunking the myth that whole-genome sequencing infringes thousands of gene patents.
Holman CM. Nat Biotechnol. 2012 Mar 7;30(3):240-4.
- Debunking the myth that whole-genome sequencing infringes thousands of gene patents.
Topics
Genomic Tests
Expert recommendations for the laboratory diagnosis of MPS VI
Wood T, et al. Mol Genet Metab 2012 Feb
Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases
Mercado RC, et al. Genet Med 2012 Mar
Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility
USPSTF
Opportunity to comment on US BRCA research plan, PHG Foundation, March 13
The cost-effectiveness of screening lung cancer patients for targeted drug sensitivity markers.
Atherly AJ, Camidge DR. Br J Cancer. 2012 Feb 28.
Making personalized cancer therapies more cost effective, Medical News Today, March 13
CYP2D6 Genotype and Tamoxifen Response in Postmenopausal Women with Endocrine-Responsive Breast Cancer: The Breast International Group 1-98 Trial.
Regan MM, Leyland-Jones B, Bouzyk M, et al. J Natl Cancer Inst. 2012 Mar 6.
CYP2D6 and UGT2B7 Genotype and Risk of Recurrence in Tamoxifen-Treated Breast Cancer Patients.
Rae JM, Drury S, Hayes DF, et al. J Natl Cancer Inst. 2012 Mar 6.
CYP2D6 genotype not predictive of tamoxifen effectiveness, Medscape Today, March 9
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base and PLoS Currents Evidence on Genomic Tests.
Family Health History
A Family History Health Quiz, The Dr Oz Show, March 7
Practice and Programs
Direct-to-Consumer Genetic Testing: What Are We Talking About?
Weaver M & Pollin TI J Genet Couns 2012 Mar
Managing the Breast in Patients Who Test Positive for Hereditary Breast Cancer
Euhus D Ann Surg Oncol 2012 Mar
Personalized Medicine: Challenge and Promise
Kaur JS & Petereit DG J Cancer Educ 2012 Mar
How genomic medicine is changing medical practice, Medscape, March 13
Uncertainty Management and Communication Preferences Related to Genetic Relativism Among Families Affected by Down Syndrome, Marfan Syndrome, and Neurofibromatosis
Parrott R, Peters K, Traeder T. Health Communication 2011 Dec;1-9
Beliefs about genes, god, can change health communication strategies, Science Daily, March 12
Policy and Legislation
Assessing public attitudes on the retention and use of residual newborn screening blood samples: A focus group study
Rothwell E, et al. Soc Sci Med 2012 Feb
Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study
Bollinger JM, et al. Genet Med 2012 Mar
Sampling Populations of Humans Across the World: ELSI Issues
Knoppers BM, et al. Annu Rev Genomics Hum Genet 2012 Mar
Opinion: On the gene patent debate, The Scientist, March 7
Public Health Science
A randomized trial of genetic information for personalized nutrition
Nielsen DE & El-Sohemy A Genes Nutr 2012 Mar
Association of Age at Diagnosis and Genetic Mutations in Patients With Neuroblastoma
Cheung N, Zhang J, Lu C, et al. JAMA 2012;307(10):1062-1071
Neuroblastoma genetics tell tale of 2 tumor types, Medscape, March 13
194 human genome epidemiology articles have recently been added, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in bold
Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: a report of the association for molecular pathology.
Funkhouser WK Jr, Lubin IM, Monzon FA, Zehnbauer BA, Evans JP, Ogino S, Nowak JA. J Mol Diagn. 2012 Mar;14(2):91-103.
Using genotyping and geospatial scanning to estimate recent Mycobacterium tuberculosis transmission, United States
Moonan PK, Ghosh S, Oeltmann JE, Kammerer JS, Cowan LS, Navin TR. Emerg Infect Dis. 2012 Mar;18(3):458-65.
Using PCR-based detection and genotyping to trace Streptococcus salivarius meningitis outbreak strain to oral flora of radiology physician assistant
Srinivasan V, Gertz RE, Shewmaker PL, Patrick S, Chitnis AS, O'Connell H, Benowitz I, Patel P, Guh AY, Noble-Wang J, Turabelidze G, Beall B. PLoS One. 2012 ;7(2):e32169.
View previous CDC-authored publications
Let's Go Surfing
Genomics contest underscores challenges of personalized medicine
Scudellari M Nat Med 2012;18(3):326
NHGRI to fund projects using patients' genomes in clinical care, Genome Web, March 8 [by free subscription only]
PCTs fail patients by not funding genetic tests for familial hypercholesterolaemia, GP, March 8
Cost of gene sequencing falls, raising hopes for medical advances, The New York Times, March 7
Students see future of genetic science, YNN, March 7
Events and Training
4th International Symposium on Hereditary Breast and Ovarian Cancer: From Theory to Practice
April 25-27 ~ Montréal, Canada
Evolution in the genome era
May 7-9 ~ Venice, Italy
Genetic Analysis of Complex Human Diseases
May 21-24 ~ Miami Beach, FL
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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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