Genomics & Health Impact Update
Volume 31 Number 15 October 18 - 24, 2013About the Update
Features of the Week
Reports & Publications
Whole-exome sequencing rises to top in largest clinical application for undiagnosed disease, by Liz Devitt, Nature Medicine, Oct 2
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
Yaping Yang et al. New Engl J Med Oct 2
Editorial: Next-generation sequencing for clinical diagnostics
Howard J. Jacob. New Engl J Med Oct 2
Gene scans solve mystery diseases in kids, adults, by Marilynn Marchione, Associated Press, Oct 2
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience
Caitlin B. Mauer et al. Genetics in Medicine, Oct 10
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Layla Shahmirzadi et al. Genetics in Medicine, Oct 10
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Ohba C, et al. Neurogenetics 2013 Oct
Live blog: Medicine gets personal with genomics Tweet chat live blog on genomics and how it is revolutionizing medicine, by Dr Richard Besser, ABC News, Oct 2
Finding common ground.
James P. Evans MD, Genetics in Medicine Oct 17
Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not
Crawford G, et al. Genet Med 2013 Oct
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine 2013 Aug 1
CDC blog post: On spinning wheels and genomes revealed: sequencing is no longer a sleeping controversy. Mar 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genetics in Medicine, Jun 2013
CDC information: Breast cancer awareness
CDC information: Breast cancer and family health history
Jolie's doctor says her story raises awareness, saves lives, by Liz Neporent via Good Morning America, Oct. 15
CDC podcast: Hereditary breast and ovarian cancer: BRCA and your patient
Breast cancer awareness: Jacqui Jeras talks about preventative mastectomy, by Greta Kreuz, ABC News, Oct 1
‘Decoding Annie Parker’ portrays hunt for breast cancer genes. Film follows both a cancer survivor and the researcher who found BRCA1, by Tina Hesman Saey, Science News, Oct 9
What does it mean to be genomically literate? National Human Genome Research Institute Meeting Report. Belen Hurle et al. Genetics in Medicine (2013)
NHGRI reports on first genomic literacy workshop, by Omar McCrimmon (2013)
Genes in Life from Genetic Alliance: How do my genes affect my health? Your health depends on a combination of your genes, choices, and environment
Genetics and genomics for healthcare: from the UK National Genetics and Genomics Education Center
CDC information on FoodCORE: Enhancing foodborne disease outbreak response
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)
The "Tom Hanks Effect": Diabetes docs see positives in actor's publicizing his diagnosis
Tom Hanks is one of 25 million Americans with diabetes. Here's how to reduce your chances of getting it too.
CDC information: Prediabetes: Am I at risk?
CDC information: Does diabetes run in your family? Take steps towards better health!
Lifestyle interventions for patients with and at risk for Type 2 Diabetes: A systematic review and meta-analysis.
Elizabeth Sumamo Schellenberg et al. Annals of Internal Medicine, Oct 15
CDC National Registry of Recognized Diabetes Prevention Programs: Can be used by health care providers to refer patients to a local program; and to also help people who want to make a lifestyle change to prevent type 2 diabetes.
Did you know? More than 3000 genes have been reported with risk of type 2 diabetes and its outcomes, including more than 120 genomewide association studies. To find out more, visit the HuGE Navigator
Gene-environment interactions in cancer epidemiology: A National Cancer Institute think tank report.
Carolyn M. Hutter et al. Genetic Epidemiology, Oct 2013
Tackling the complexity of genes and environments in cancer, NCI Cancer Bulletin (2012)
CDC paper: Recommendations and proposed guidelines for assessing the cumulative evidence on joint effects of genes and environments on cancer occurrence in humans
Paolo Boffetta et al. Int J Epidemiol (2012)
Boost for familial hypercholesterolaemia (FH) cascade testing, By Dr Philippa Brice, PHG Foundation, Oct 15
CDC podcast: Cascade screening for familial hypercholesterolemia
What is familial hypercholesterolemia? Information from the FH Foundation
American Society for Human Genetics, Boston, MA, October 22-26
Genomics Forum at the APHA Annual Meeting, Boston MA, November 2-6
Bio-IT World and Cambridge Healthtech Institute- Clinical Exome Sequencing Changing the Nature of Genetic Diagnosis, Lisbon, Portugal, December 4-5
Cambridge Healthtech Institute’s Inaugural Clinical Epigenetics- Interrogating Disease Epigenomes for Diagnostic, Prognostic & Therapeutic Utility, San Francisco, CA , February 10-12, 2014
Second Annual Meeting on Genomics in Medicine: Patient-centric view of genomic data, San Francisco, CA, February 13-14, 2014
American College of Medical Genetics and Genomics, Annual Meeting, Nashville TN, March 25-29, 2014
Human Genome Organization Meeting: Genome Variation and Human Health, Geneva, Switzerland, April 27-30, 2014
Canadian genomics projects focus on personalised medicine, by Dr Philippa Brice, PHG Foundation, Oct 16
Analytical validation of the Oncotype DX prostate cancer assay -- a clinical RT-PCR assay optimized for prostate needle biopsies
Knezevic D, et al. BMC Genomics 2013 Oct;14(1):690
Comprehensive identification of mutational cancer driver genes across 12 tumor types
David Tamborero et al. Nature, Oct 2
Disclosure pattern and follow-up after the molecular diagnosis of BRCA/CHEK2 mutations
Kegelaers D, et al. J Genet Couns 2013 Oct
Effect of the 12-gene colon cancer assay results on adjuvant treatment recommendations in patients with stage II colon cancer
Cartwright T, et al. Curr Med Res Opin 2013 Oct
Gene expression profiling and expanded immunohistochemistry tests to guide the use of adjuvant chemotherapy in breast cancer management: a systematic review and cost-effectiveness analysis
Ward S, et al. Health Technol Assess 2013 Oct;17(44):1-302
Genomics: Comparisons across cancers
Ashworth A, et al. Nature 502, 306-307 Oct 17
Going with the flow: From circulating tumor cells to DNA
Francois-Clement Bidard et al. Sci Trans Med, Oct 16
Impact of familial risk and mammography screening on prognostic indicators of breast disease among women from the Ontario site of the Breast Cancer Family Registry
Walker MJ, et al. Fam Cancer 2013 Oct
Improvement of the quality of BRAF testing in melanomas with nationwide external quality assessment, for the BRAF EQA group
Emile JF, et al. BMC Cancer 2013 Oct;13(1):472
Misperceptions of ovarian cancer risk in women at increased risk for hereditary ovarian cancer
Meiser B, et al. Fam Cancer 2013 Oct
Multidisciplinary one-stage risk-reducing gynaecological and breast surgery with immediate reconstruction in BRCA-gene carrier women
Khadim MF, et al. Eur J Surg Oncol 2013 Sep
Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer
Christoph Plas et al. Nature Reviews Genetics, Oct 9
Mutational landscape and significance across 12 major cancer types
Kandoth C, et al. Nature 502, 333-339 Oct 17
PS2-31: Implementation of universal Lynch syndrome screening in an integrated health care delivery system
Kauffman T, et al. Clin Med Res 2013 Sep;11(3):161
The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers
Borreani C, et al. Clin Genet 2013 Oct
Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?
Maheu C, et al. Psychooncology 2013 Oct
Communication of genetic test results to family and health-care providers following disclosure of research results
Graves KD, et al. Genet Med 2013 Oct
DREAMing of a patent-free human genome for clinical sequencing.
Kevin J McKernan et al. Nature Biotechnology, Oct 8
“I prefer a child with …”: designer babies, another controversial patent in the arena of direct-to-consumer genomics.
Sigrid Sterckx et al. Genetics in Medicine, Oct 3
“It’s our DNA, we deserve the right to test!” A content analysis of a petition for the right to access direct-to-consumer genetic testing
Yeyang Sut al. Personalized Medicine, Sep 2013
Life insurance: genomic stratification and risk classification
Joly Y, et al. Eur J Hum Genet 2013 Oct
PS3-13: Re-identification risk associated with sharing linked genomic and phenotypic data from the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH)
Walter L, et al. Clin Med Res 2013 Sep;11(3):148
UK push to open up patients’ data. Government faces obstacles to mining medical records.
Ewen Callaway, Nature Oct 15
Ethical issues in the use of biomedical data, PHG Foundation, Oct 18
Advance non-infringement ruling on BRCA patents sought, By Dr Philippa Brice, PHG Foundation, Oct 2
Family history in young onset Parkinson's disease
Malek N, et al. J Neurol Neurosurg Psychiatry 2013 Nov;84(11):e2
Nurses' attitudes, abilities and educational preference related to using family pedigrees in clinical practice
Pestka EL, et al. Int J Nurs Pract 2013 Oct;19(5):498-506
PS2-39: Family history data from Clarity and other sources
Fuller S & Seger D Clin Med Res 2013 Sep;11(3):155
Understanding family health information seeking: A test of the theory of motivated information management
Hovick SR J Health Commun 2013 Oct
Better technology vital for incorporating family histories, by Susan D. Hall, Fierce HealthIT, Oct 7
A1-2: Cost-effectiveness of interleukin 28b genotype-guided protease inhibitor therapy in treatment-naive patients with hepatitis C virus genotype 2 or 3
Bock J, et al. Clin Med Res 2013 Sep;11(3):142
Characterization of statin dose-response within electronic medical records
Wei WQ, et al. Clin Pharmacol Ther 2013 Oct
Consulting communities on feedback of genetic findings in international health research: sharing sickle cell disease and carrier information in coastal Kenya
Marsh V, et al. BMC Med Ethics 2013 Oct;14(1):41
Current sickle cell disease management practices in Nigeria
Galadanci N, et al. Int Health 2013 Oct
Economic evaluation of cardio inCode, a clinical-genetic function for coronary heart disease risk assessment
Ramirez de Arellano A, et al. Appl Health Econ Health Policy 2013 Sep
Genetic testing and Alzheimer's disease: implications for psychiatric-mental health nursing
Schutte DL J Psychosoc Nurs Ment Health Serv 2013 Oct:1-5
Primary care patient willingness for genetic testing for salt-sensitive hypertension: a cross sectional study
Okayama M, et al. BMC Fam Pract 2013 Oct;14(1):149
PS3-48: Assessing appropriate treatment of familial hypercholesterolemia in children
Underland L, et al. Clin Med Res 2013 Sep;11(3):174
Public health genomics and personalized prevention: lessons from the COGS project
Pashayan N, et al. J Intern Med 2013 Nov;274(5):451-6
Clinical utility gene card for: Huntington’s disease
Carsten Saft et al. Eur J Hum Genet, Oct 9
Clinical utility gene card for: Xeroderma pigmentosum
Steffen Schubert et al. Eur J Hum Genet, Oct 9
Clinical utility gene card for: 16p13.11 microdeletion syndrome
Maria Tropeano et al. Eur J Hum Genet, Oct 9
Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
Cavarzere P, et al. J Endocrinol Invest 2013 Sep
A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, et al. Human Mutation, Sep 30
Can genotype be used to tailor treatment of obesity? State of the art and guidelines for future studies and applications
Corella D & Ordovas JM Minerva Endocrinol 2013 Sep;38(3):219-35
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and peginterferon alpha based regimens
Muir AJ, et al. Clin Pharmacol Ther 2013 Oct
Guidelines for biomarker testing in metastatic melanoma: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology
Martin-Algarra S, et al. Clin Transl Oncol 2013 Oct
Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update
Wolff AC, et al. J Clin Oncol 2013 Oct
Appropriateness of newborn screening for Alpha-1 antitrypsin deficiency; analysis and recommendations from a workshop
Teckman J, et al. J Pediatr Gastroenterol Nutr 2013 Oct
NA-newborn screening: Gaps in the evidence
Wilcken B Science 2013 Oct;342(6155):197-8
Simple newborn screening saving babies' lives, by Wendy Leonard, Deseret News, Oct 8
The tests that babies need, by Jane E. Brody, New York Times, Oct 14
Delivering pharmacogenetic testing in a primary care setting
Mills R, et al. Pharmgenomics Pers Med 2013;6:105-12
PS3-2: Informatics challenges to implement pharmacogenetics to clinical practice
Zhou Z, et al. Clin Med Res 2013 Sep;11(3):147-8
Breakthroughs in prenatal screening, by Jane Brody, New York Times, Oct 7
Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings
Edelman EA, et al. Matern Child Health J 2013 Oct
A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)
O'Mahony C, et al. Eur Heart J 2013 Oct
A validated risk model to predict 90-day VTE events in post-surgical patients
Pannucci CJ, et al. Chest 2013 Oct
B4-1: An Overview of Kaiser Permanente's research program on genes, environment, and health
Schaefer C, et al. Clin Med Res 2013 Sep;11(3):146
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
Ferran Casals et al PLoS Genetics, Oct 2013
Personalized genomic disease risk of volunteers.
Manuel L. Gonzalez-Garay et al. PNAS, Sep 30
Primaquine failure and cytochrome P-450 2D6 in plasmodium vivax malaria.
Bennett JW et al. N Engl J Med 2013; 369:1381-1382
The return of unexpected research results in a biobank study and referral to health care for heritable Long QT syndrome.
Haukkala A, et al. Public Health Genomics. 2013 Sep 11:241-250.
Common variants associated with plasma triglycerides and risk for coronary artery disease
Ron Do et al. Nature Genetics, Oct 5
Measures of gene expression in sputum cells can identify TH2-high and TH2-low subtypes of asthma.
Michael C. Peters et al. J All Clin Immunol, Sep 2013
Genetically dictated change in host mucus carbohydrate landscape exerts a diet-dependent effect on the gut microbiota.
Purna C. Kashyap et al. PNAS, Sep 2013
Genetic makeup and diet interact with the microbiome to impact health, Science News, Sep 25
Newly discovered gene regulator could precisely target sickle cell disease, Science Daily News, Oct 10
Proposed treatment to fix genetic diseases raises ethical issues, by Rob Stein, National Public Radio, Oct 9
The way forward: Realizing the promise of precision medicine and big data. Peter Yu, ASCO Connection, Oct 7
Large scale sequencing efforts go beyond genetic variations towards function, by nextgenseek, Oct 5
Is direct to consumer genetic testing profitable? Seqonomics blog, Oct 6
Genes play a role in breast cancer risk for some; lifestyle changes cut risk for many, Nanci Hellmich, USA Today, Oct 1
Where are all the miracle drugs? The human genome was sequenced about 13 years ago. We were supposed to have major medical advances in a decade, by Brian Palmer, Slate Magazine, Sep 30
The Human Genome Project wasn’t overhyped. The payoff just took time, by Sasha Kamb Xconomy, Oct 3
Genomics England and the 100,000 genomes, by Caroline Wright, Genomes Unzipped, Oct 4
Should you get tested for the breast cancer gene? Beth Greenfield, Shine Staff, Oct 3
Why I love genetics, By Razib Khan, Discover Magazine, Oct 7
US to enter the fray on mitochondrial replacement, by Dr Philippa Brice, PHG Foundation, Oct 10
Small bits of genetic material fight cancer's spread, ScienceNews, Oct 15
Our bodies, our data: New technologies have launched the life sciences into the age of big data. Biologists must now make sense of their windfall, by Emily Singer, Quanta Magazine, Oct 3
Our genomes are talking to us - are we good listeners? By Aaron Krol, Clinical Informatics News, Oct 8
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
Availability of an assay for detecting Mycobacterium tuberculosis, including rifampin-resistant strains, and considerations for its use — United States, 2013
MMWR Weekly October 18, 2013 / 62(41);821-824
Development of a reverse genetics system to generate recombinant Marburg virus derived from a bat isolate.
Albariño CG, Uebelhoer LS, Vincent JP, Khristova ML, Chakrabarti AK, McElroy A, Nichol ST, Towner JS. Virology. 2013 Nov;446(1-2):230-7.
Genetic variants within the MHC region are associated with immune responsiveness to childhood vaccinations.
Yucesoy B, Talzhanov Y, Johnson VJ, Wilson NW, Biagini RE, Wang W, Frye B, Weissman DN, Germolec DR, Luster MI, Barmada MM. Vaccine. 2013 Sep 26. pii: S0264-410X(13)01267-X.
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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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