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Genomics & Health Impact Update:

Volume 31   Number 3   July 18 - July 25, 2013

Spotlight: Aging and Health: Role of Genomics

elderly couple

CDC feature: Aging and health in America, 2013

Genetics and genomics of human aging.
Heather E. Wheeler and Stuart K. Kim Philos Trans R Soc Lond B Biol Sci. 2011 January 12; 366(1561): 43–50.

A genome-wide association study of aging.
Neurobiol Aging. 2011 Nov;32(11):2109.e15-28.

CDC infomation:Why is family history important for your health at any age?

Information on genomics in selected diseases related to aging:

Alzheimer's disease genetics fact sheet, from the National Institute on Aging

Age-related macular degeneration genetics, from the NIH Genetics Home Reference

Heart disease, genomics and family history, CDC information

Breast and ovarian cancer, genomics and family health history,  CDC information

Colorectal cancer, genomics and family history, CDC information

Features of the Week

Gene Therapy: Coming of Age?

helix strands

Glowing proof of gene therapy delivered to the eye, by Dr. Francis Collins, NIH Director, Jul 11

Gene therapy trial 'cures children', by James Gallagher Health and science reporter, BBC News, Jul 11

New stem cell gene therapy success, by Dr Philippa Brice, PHG Foundation, Jul 11

Gene therapy coming of age? Using lentiviral vectors to replace mutated genes in blood stem cells, scientists successfully treat two rare diseases apparently without causing harmful side effects, by Dan Cossins, The Scientist, Jul 11

Health researchers hack HIV to cure children with rare genetic disorders, Circa blog, Jul 13


Whole Genome Sequencing in Practice: Evolving Field

whole genome sequncingA father's hunt for his daughter's genetic defect, National Public Radio, Jul 13

Developments in clinical genome and exome sequencing, by Dr Philippa Brice PHG Foundation, Jul 15

The future of whole genome sequencing: A web focus from European Journal of Human Genetics

American College of Medical Genetics and Genomics recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Genetics in Medicine, Jul 4

Guidelines support the return of incidental genomic findings: recommendation suggests that labs should report children's mutations associated with certain adult-onset diseases
Levenson D Am J Med Genet A 2013 Jun;161(6):vii-viii

CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy

Next-generation DNA sequencing finds use as a diagnostic, C&En, Jul 15

Stakeholders' opinions on the implementation of pediatric whole exome sequencing: Implications for informed consent
Levenseller BL, et al. J Genet Couns 2013 Jul


Epigenetics: Implications for Health and Disease

Epi genetics with double helix

What is epigenetics? The Economist, Jul 11

Epigenetic vulnerability and the environmental influence on health.
Gomes MV, Pelosi GG. Exp Biol Med (Maywood). 2013 Jul 4

From promises to practical strategies in epigenetic epidemiology.
Mill J, Heijmans BT. Nat Rev Genet. 2013 Jul 2

CDC-NCI paper: Opportunities and challenges for selected emerging technologies in cancer epidemiology: Mitochondrial, epigenomic, metabolomic, and telomerase profiling.
Verma M et al. Cancer Epidemiology Biomarkers & Prevention 2013


The Future of Cancer Screening: Implications of New Genomic Knowledge

silver balls and one red ball

CDC Public Health Grand Rounds: Future of cancer screening: Public health approaches

CDC blog post: How can we use genetic testing in population screening for common diseases? Scientific and implementation challenges

CDC paper: How can polygenic inheritance be used in population screening for common diseases?
Khoury MJ et al. Genetics in Medicine Feb 14, 2013

Public health implications of genomics  and potential for risk stratification and screening
Hilary Burton et al. Nature Genetics 2013;45:349-351

Future cancer screening may be improved by the use of genetic information, PHG Foundation, March 27

CDC information: Breast and ovarian cancer and family health history

CDC information: Genetic testing for breast and ovarian cancer

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Diseases of the Week

Sickle Cell Anemia

sickle cell

Global burden of sickle cell anemia in children under five, 2010–2050: Modelling based on demographics, excess mortality, and interventions
Frédéric B. Piel, Simon I. Hay, Sunetra Gupta, et al. PLoS Med 10(7): e1001484.

Sickle cell anemia is on the rise worldwide, National Public Radio, Jul 17

CDC information on sickle cell disease

What do you know about Sickle Cell Disease: Take a CDC  quiz

CDC information: Sickle cell disease national resource directory & clickable state map



boy holding a blanket

CDC information: Autism spectrum disorders (ASDs) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges

CDC information: Autism, genomics and family history

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. [PDF 637.26 KB]
Yong-hui Jiang et al. Am J Hum Genetics July 2013

Did you know? 444 genes have been reported in relation to risk of autism, including 11 genomewide association studies. To find out more, visit the HuGE Navigator

Check out genetic conditions and available genetic tests associated with autism from the NIH Genetic Testing Registry

CDC’S SEED is the largest study in US looking at what puts kids at risk for autism, including genetic factors


Amyotrophic Lateral Sclerosis

person in wheelchair with child

Genetic counselling in ALS: facts, uncertainties and clinical suggestions
Chio A, et al. J Neurol Neurosurg Psychiatry 2013 Jul

The National ALS Registry is now recruiting participants in the biorepository pilot study. Learn more at  ALS Biorepository

CDC/ATSDR continuing education module on ALS

Genetics of Amyotrophic Lateral Sclerosis, from the NIHH Genetics Home Reference

Did you know that 173 genes have been reported in relation to risk of ALS, including 30 genomewide association studies. To find out more, viti the HuGE Navigator


Sudden Cardiac Death of the Young

teenagers playing scoccer

Screening for sudden cardiac death before participation in high school and collegiate sports [PDF 115.19 KB]
American College of Preventive Medicine Position Statement on Preventive Practice, Jul 2013

Sudden cardiac death of the young: surveillance and prevention project, Michigan Department of Community Health

Screening NCAA athletes for sudden cardiac death risk? Science Daily, Apr 19

Too young to die - An update on the impact of sudden cardiac death of the young in Michigan 1999 - 2011 [PDF 827.69 KB]

CDC blog post: Can sudden cardiac death of the young be prevented?

Did you know?  101 genes have been reported with risk of sudden cardiac death including 5 genomewide association studies. The most common reported genes are SCN5, KCNH2 and KCNQ1.


Hereditary Hemochromatosis

grandmother with adult grandson

CDC pop quiz: How much do you know about hemochromatosis?

CDC information: Genetics can play a major role in hemochromatosis

US Preventive Services Task force recommended against population screening for hemochromatosis and for cascade early detection in families

NIH Genetic Testing Registry: Find information about hereditary hemochromatosis clinical presentation, genetics and tests available

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Select Events

conference room

The Genomics of Common Diseases 2013, Keble College, Oxford, UK, September 7-10, 2013

The Second International Biobanking Summit (IBS-II): Future Directions, [PDF 459.68 KB] Graz, Austria, September 17, 2013



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Reports and Publications

stacked journals


Changes in specialists' perspectives on cancer genetic testing, prophylactic surgery and insurance discrimination: Then and now
Matloff ET, et al. J Genet Couns 2013 Jul

Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers
Pataky R, et al. BMC Cancer 2013 Jul;13(1):339

Diagnostic chest x-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers
John EM, et al. Cancer Epidemiol Biomarkers Prev 2013 Jul

International rates of breast reconstruction after prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers.
Semple J, Metcalfe KA, Lynch HT, et al. Ann Surg Oncol. 2013 Jun 6.

Linking distant relatives with BRCA gene mutations: potential for cost savings.
Senter L, O'Connor M, Oriyo F, et al. Clin Genet. 2013 May 31.

Population-based, risk-stratified genetic testing for ovarian cancer risk: A focus group study
Meisel SF, et al. Public Health Genomics 2013 Jul

Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers (EGTM) 2013 guidelines update
Duffy MJ, et al. Int J Cancer 2013 Jul


Ethics, Policy and Law

Empirical research on the ethics of genomic research.
Anna Middleton et al, Am J Med Genetics, Jun 2013 

Gene patenting - The Supreme Court finally speaks
Kesselheim AS, et al. N Engl J Med 2013 Jul

On the ethics of clinical whole genome sequencing of children
Thomas May, Kaija L. Zusevics, and Kimberly A. Strong, Pediatrics Perspectives 2013

Open invited letter to Genomics England by Michael Parker & others regarding whole genome sequencing in the National Health Service in the UK NHS [PDF 464.22 KB]


Family History

Identifying adolescents with high fasting glucose: The importance of adding grandparents' data when assessing family history of diabetes
Brandao M, et al. Prev Med 2013 Jul

Share healthy habits at your next family reunion, by Stacy Simon, American Cancer Society, Jul 1


Genomics in Practice

Clinical genomics in the world of the electronic health record
Marsolo K & Spooner SA Genet Med 2013 Jul

Consumer preferences for the predictive genetic test for Alzheimer disease
Huang MY, et al. J Genet Couns 2013 Jul

Return of results to the families of children in genomic sequencing: tallying risks and benefits.
Evans JP. Genet Med. 2013 Jun;15(6):435-6.


Genomic Tests

Clinical utility gene card for: Vici syndrome
Cullup T, et al. Eur J Hum Genet 2013 Jul

Variations in predicted risks in personal genome testing for common complex diseases
Kalf RR, Mihaescu R, Kundu S, et al. Genet Med. 2013 Jun 27.

Direct-to-consumer genetic testing kits vary in predictions of disease risk, Emory University, Jul 16

Primary care patients’ views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study
Wasson K, Sanders TN, Hogan NS, et al. J Community Genet. 2013 Jul 7.

How patients experience direct-to-consumer genetic testing, Science Daily, Jul 16

Laboratory developed tests, by Steve Gutman, Myraqa, Jul 11


Guidelines and Recommendations

A report by the Academy of Medical Sciences makes recommendations to address barriers to the widespread development and adoption of stratified medicine in the UK, in areas such as clinical development, regulation, and pricing and reimbursement. (Jul 11)

Realising the potential of stratified medicine, [PDF 2.35 MB] The Academy of Medical Sciences

How to deliver the potential of personalised medicine, PHG Foundation, Jul 12

Use of pharmacologic interventions for breast cancer risk reduction: American Society of Clinical Oncology clinical practice guideline, ASCO, Jul 8

ASCO updates guidelines for prevention and treatment of VTE in cancer patients,
Robert H. Carlson, Oncology Times, Jul 10

Institute of Medicine Workshop Report: Implementing a national cancer clinical trials system for the 21st century – second workshop summary, Jul 15

How to deliver the potential of personalised medicine, by Dr Philippa Brice, PHG Foundation, Jul 12


Newborn Screening

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Couce ML, et al. Orphanet J Rare Dis 2013 Jul;8(1):102



Pharmacogenomics in early-phase clinical development
Burt T & Dhillon S Pharmacogenomics 2013 Jul;14(9):1085-97


Prenatal Screening

'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening.
Ioannou L, Massie J, Lewis S, et al. J Community Genet. 2013 May 29.

A new era in noninvasive prenatal testing
Stephanie Morain, Michael F. Greene, and Michelle M. Mello, New England J Med Jul 17

New method for cheaper IVF genetic screening, by Dr Philippa Brice, PHG Foundation, Jul 16


Public Health Sciences

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications
Amélie Bonnefond et al. Nature Genetics, July 14

Insights into the phylogeny and coding potential of microbial dark matter
Christian Rinke et al. Nature. Jul 14

Meta-analyses of studies of the human microbiota
Catherine Lozupone, Jesse Stombaugh, Antonio Gonzalez, et al. Genome Research 2013 Jul 16

Rapid bacterial whole-genome sequencing to enhance diagnostic & public health microbiology.
Reuter S et al. JAMA Internal Medicine Jul 15

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia
Rensing-Ehl A, et al. Haematologica 2013 Jul

Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers
Tan YQ, et al. Hum Reprod 2013 Jul

The relationship between type 2 diabetes family history, body composition and blood basal glycemia in sedentary people
Bianco A, et al. Acta Diabetol 2013 Jul


Reviews and Commentaries on Science & Technology

Alliance aims for standardized, shareable genomic data
Bridget M. Kuehn, MSJ JAMA. 2013;310(3):248-249.

Influenza — Time to Target the Host?
J. Kenneth Baillie, and Paul Digard,  N Engl J Med 2013; 369:191-193 Jul 11

The deep epistemological problem in 'personalized genomic medicine' . . . that nobody wants to acknowledge, The Mermaid’s Tale, Jul 17

Further reflections on genomic screening, Genomes Unzipped, Jul 17

Gene signature predicts aspirin resistance, by Dr. Francis Collins, NIH Director’s Blog, Jul 16

Mapping cancer: Largest set of tumor genomes could lead to better anticancer drugs, Time, Jul 16

Fat-boosting gene mystery 'solved', by James Gallagher Health and science reporter, BBC News, Jul 15

How many microbes are hiding among us? By Elizabeth Pennisi , Science News, Jul 14

Do clinical trials work? By Clifton Leaf, New York Times, Jul 13

Better screening for deadly genetic diseases: Carrier screening can prevent disease in families, but some doubt that it can change population-level incidence of disease, by Susan Young, MIT Review, Jul 12

Podcast: George Church on genomics "Like a spaceship that was parked in our back yard",  Jul 12

The personalization of medicine, by Katherine Hobson, US News, Jul 12

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About the Genomics & Health Impact Update

The Update includes  genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive the update electronically every week sign-up here.


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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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