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Genomics & Health Impact Update

Volume 31   Number 2   July 11 - July 18, 2013

Spotlight: The Future of Cancer Screening: Implications of New Genomic Knowledge

siver balls and one red ball

CDC Public Health Grand Rounds: Future of cancer screening: Public health approaches, July 16, at 1 p.m. (EDT)

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

Features of the Week

Painkillers Overdose: Genetic Differences in Drug Metabolism

lots of pills and pill containers

CDC Vital Signs:  Prescription painkiller overdoses- a growing epidemic, especially among women

Skyrocketing epidemic among women: Prescription painkiller overdoses, by Tom Frieden, CDC Director, Huffington Post, Jul 6

Find out how opioid prescription drugs are affected by genetic differences in metabolism and which drugs have labels or dosing guidelinesPharmGKB: A comprehensive resource that curates knowledge about the impact of genetic variation on drug response for clinicians and researchers

PharmGKB: The Pharmacogenomics Knowledge Base
Thorn CF, et al. Methods Mol Biol 2013;1015:311-20

Should codeine & tramadol be avoided in ultrarapid metabolizers? And do the 10% of the population who are poor metabolizers not get any benefit at all?

Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of Cytochrome P450 2D6 (CYP2D6) genotype.
Relling M et al Clin Pharma Thera (2012) 91(2): 321–326.


Epigenetics: Implications for Health and Disease

Epigenetics with double helixWhat is epigenetics? Science special (2010)

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

Epigenetics and personalized medicine: prospects and ethical issues
Ruth Chadwick & Alan O’Connor Personalized Medicine 10(5):463-471

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

Epigenome-wide study of DNA methylation in breast cancer using prospectively collected samples, The ASCO Post, Jun 25


Health Disparities in Genomic Medicine: Role of Public Health

minorities with the American flag in the backgroundCDC blog post: Why we can’t wait? A public health approach to disparities in genomic medicine

Genomics and disparities in health and health care: Challenges and opportunities, [PDF 509.57 KB] presentation by  David R. Williams, Harvard University, NHGRI 10th Anniversary of Human Genome Project, April 2013

CDC paper: Utilization of epidermal growth factor receptor (EGFR) testing in the United States
Lynch J et al. Genet Med. 2013 Feb 28

Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk.
Levy DE et al. Genet Med 2012


Whole Genome Sequencing in Clinical Practice

genome sequenceingClinics unroll genome sequencing tests for undiagnosed disorders, SFARI, Jul 8

Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome
Wald NJ, Bestwick JP. PLoS One. 2013;8(3):e58732.

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
van El CG, Cornel MC, Borry P,  et al. Eur J Hum Genet. 2013 Jun;21(6):580-4.

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

Incidental findings in clinical genomics: a clarification by the American College of Medical Genetics & Genomics.
Green RC, Berg JS, Grody WW, et al. Genet Med. 2013 Jul;15(7):565-74.

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Diseases of the Week

July is Hemochromatosis Awareness Month

grandmother with adult grandson

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

CDC information: Genetics can play a major role in hemochromatosis

Did you know? More than 3000 genes have been reported in relation to hemochromatosis with the HFE gene as the most commonly associated with this condition. Find out more by visiting the HuGE Navigator

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


Lynch Syndrome

father, mother and son

EGAPP recommendation: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

CDC blog post: Making universal screening for Lynch syndrome a reality

Colorectal cancer: Cascade genetic testing in Lynch syndrome: room for improvement
Kory Jasperson  Nature Reviews Gastroenterology Hepatology, Jul 9

Population-based molecular screening for Lynch syndrome: Implications for personalized medicine
Robyn L. Ward, Sian Hicks and Nicholas J. Hawkins. J Clin Oncol Jul 10

Population-based universal screening for Lynch syndrome: Ready, set… how?
Joanne Ngeow and Charis Eng. J Clin Oncol July 10

Colorectal cancer: Cascade genetic testing in Lynch syndrome: room for improvement.
Nature Reviews Gastroenterol & Hepatology, July 2013


Cystic Fibrosis

grandmother with granddaughter

I lived my "What If..." 66 Roses blog post by Erin Moore July 2

Changes in cystic fibrosis airway microbiota at pulmonary exacerbation
Carmody L, Zhao J, Schloss P, et al. Annals of the American Thoracic Society, Vol. 10, No. 3 (2013), pp. 179-187.

Cystic fibrosis awareness toolKit, Cystic Fibrosis Foundation

Basics of lung care, Cystic Fibrosis Foundation

CDC facts: What is cystic fibrosis? [PDF 298.67 KB]

Cystic fibrosis is included in the universal panel for newborn screening in the United States. Find out more about cystic fibrosis.

What diseases has the Cystic Fibrosis gene (CFTR) been associated with? Find out more by visiting the HuGE Navigator

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Select Events

conference room

Dive into the Gene Pool: Integrating genetics and genomics into your pediatric primary care practice. Chicago, Illinois, August 9-10, 2013

Translational Research in Genomic Medicine: What can genomic medicine offer today? How can genomics improve screening and prevention of disease? Emory University-CDC Course, Atlanta, Georgia August 15-16, 2013.

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Funding Opportunities

piggy bank on top of a few books

Genomic Medicine Pilot Demonstration Projects (GMPDP), NHGRI, Jul 2

NHGRI funds new clinical genomics consortium, Genome Web, Jul 3 [by free subscription only]


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Reports and Publications

stacked journals


Clinical significance and prognostic value of microRNA expression signatures in hepatocellular carcinoma
Wei RR, et al. Clin Cancer Res 2013 Jun

Clinicians' attitudes toward general screening of the Ashkenazi-Jewish population for prevalent founder BRCA1/2 and LRRK2 mutations
Shkedi-Rafid S, et al. Public Health Genomics 2013 Jun

Comparison of PAM50 risk of recurrence score with Oncotype DX and IHC4 for predicting risk of distant recurrence after endocrine therapy
Dowsett M, et al. J Clin Oncol 2013 Jul

Decisional outcomes of maternal disclosure of BRCA1/2 genetic test results to children
Tercyak KP, et al. Cancer Epidemiol Biomarkers Prev 2013 Jul;22(7):1260-6

Telling kids about breast cancer genetic testing, CNN, The Chart blog post, Jul 4

Full disclosure: Why moms share results of their genetic breast cancer tests with their kids, Bonnie Rochman, Time, Jul 3

Establishing a program for individuals at high risk for breast cancer
Cadiz F, et al. J Cancer 2013;4(5):433-46

Fecal immunochemical test accuracy in familial risk colorectal cancer screening. 
Castro I,et al. Int J Cancer. 2013 Jul 1

Knowledge, attitudes and behavior of physicians regarding predictive genetic tests for breast and colorectal cancer
Marzuillo C, et al. Prev Med 2013 Jul

Phase III study of afatinib or cisplatin plus pemetrexed in patients with metastatic lung adenocarcinoma with EGFR mutations
Sequist LV, Yang JC, Yamamoto N, et al. J Clin Oncol. 2013 Jul 1.

Symptom control and quality of life in LUX-Lung 3: A phase III study of Afatinib or Cisplatin/Pemetrexed in patients with advanced lung adenocarcinoma with EGFR mutations.
Yang JC, Hirsh V, Schuler M, et al. J Clin Oncol. 2013 Jul 1.

Afatinib could be first-line option in EGFR-mutated NSCLC, Medscape, Jul 9 [by free subscription only]

Validation study of a non-invasive urine test for diagnosis and prognosis assessment of bladder cancer. Evidence for improved models
Mengual L, et al. J Urol 2013 Jul


Ethics, Policy and Law

Gene patenting — the Supreme Court finally speaks
Kresselheim A, Cook-Deegan R, Winickoff D, et al. New England J Med 2013 Jul 10

2 competitors sued by genetics company for patent infringement, The New York Times, Jul 10

Will the Supreme Court’s decision on “gene patents” stifle medical innovation? By Nicole Kling, Vector Blog, Jul 8


Family History

Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives
Brown CR, et al. J Vasc Surg 2013 Jun


Genomics in Practice

Bringing genome-wide association findings into clinical use
Teri A. Manolio Nature Reviews Genetics, Jul 9

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

Genetic evaluation of dilated cardiomyopathy.
Morales A, Hershberger RE. Curr Cardiol Rep. 2013 Jul;15(7):375

Screening for Down syndrome in the United States: results of surveys in 2011 and  2012
Palomaki GE, et al. Arch Pathol Lab Med 2013 Jul;137(7):921-6

Understanding of and attitudes to genetic testing for inherited retinal disease:  a patient perspective
Willis TA, et al. Br J Ophthalmol 2013 Jun

Usefulness of genetic testing for hypertrophic cardiomyopathy in real-world practice
Cobo-Marcos M, et al. Rev Esp Cardiol 2013 Jul

Screening for sudden cardiac death before participation in high school and collegiate sports: American College of Preventive Medicine position statement on preventive practice.
Mahmood S, Lim L, Akram Y, et al. Am J Prev Med. 2013 Jul;45(1):130-3.

Clinics unroll genome tests for undiagnosed disorders, Virginia Hughes, SFARI, Jul 8

Are physicians ready for the tsunami of genetic information that is headed towards the medical community? Jill Hagenkord, CLP News, July 3


Genomic Tests

Clinical utility gene card for: Beckwith-Wiedemann syndrome
Eggermann T, et al. Eur J Hum Genet 2013 Jul

Genetic tests obtainable through pharmacies: the good, the bad, and the ugly
Patrinos GP, et al. Hum Genomics 2013 Jul;7(1):17

Utility of genetic testing for the detection of late-onset hearing loss in neonates
Lim BG, et al. Am J Audiol 2013 Jul


Guidelines and Recommendations

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
van El CG et al. Eur J Hum Genet. 2013 Jun;21(6):580-4.

Incidental findings in clinical genomics: a clarification.
American College of Medical Genetics and Genomics Genetics in Medicine July 4

Stem cell research and therapy: The position of the National Society of Genetic Counselors
Brianne Kirkpatrick, et al. Journal of Genetic Counseling Aug 2013, Volume 22, Issue 4, pp 407-410


Newborn Screening

Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit
Han B, et al. Int J Pediatr Otorhinolaryngol 2013 Jun

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years
Kwan A, et al. J Allergy Clin Immunol 2013 Jul;132(1):140-50.e7

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California
Prach L, et al. J Mol Diagn 2013 Jun

Young adults' pre-existing knowledge of cystic fibrosis and sickle cell diseases: implications for newborn screening
Noke M & Ulph F J Genet Couns 2013 Jun



Genetic databases in pharmacogenomics: The Frequency of Inherited Disorders Database (FINDbase)
Georgitsi M & Patrinos GP Methods Mol Biol 2013;1015:321-36


Prenatal Screening

Development of noninvasive prenatal diagnosis of trisomy 21 by RT-MLPA with a new set of SNP markers
Li PQ, et al. Arch Gynecol Obstet 2013 Jul

Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome.
Wald NJ, Bestwick JP. PLoS One. 2013;8(3):e58732.

A stepwise α-thalassemia screening strategy in high-prevalence areas.
Alkindi SS et al. Eur J Haematol. 2013 May 13.


Public Health Sciences

A clinical molecular genetic service for United Kingdom families with choroideraemia
Ramsden SC, et al. Eur J Med Genet 2013 Jun

Aspirin exposure reveals novel genes associated with platelet function and cardiovascular events.
Voora D, Cyr D, Lucas J, et al. J Am Coll Cardiol. 2013 Jul 2.

Aspirin's ability to protect against heart attacks and stroke depends on genomic signature, Nature World News, Jul 5

Blood pressure in treated hypertensive individuals with the MTHFR 677TT genotype is responsive to intervention with riboflavin: findings of a targeted randomized trial.
Wilson CP, McNulty H, Ward M, et al. Hypertension. 2013 Jun;61(6):1302-8.

Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 
Joyce BJ van Meurs et al. AM J Clin Nutrit Jul 2013

Creation of a national resource with linked genealogy and phenotypic data: the Veterans Genealogy Project
Lisa A. Cannon-Albright et al. Genet Med 2013; 15: 541-547

Peripheral blood derived gene panels predict response to infliximab in rheumatoid arthritis and Crohn's disease.
Bertalan Mesko et al. Genome Medicine, Jun 28

Thematic analysis of cardiac care patients' explanations for declining contribution to a genomic research-based biobank
Williams PH, et al. Am J Crit Care 2013 Jul;22(4):320-7

Urinary-cell mRNA profile and acute cellular rejection in kidney allografts.
Manikkam Suthanthiran et al. New Engl J Med, Jul 3

Genes may reveal when aspirin won't reduce heart risk, by Nancy Shute, NPR, Jul 5


Reviews and Commentaries on Science & Technology

Genomic testing reaches into the womb
Malorye Allison Nature Biotechnology 31,595–601(2013) Jul 9

New tools automatically match patients with clinical trials
Alisa Opar Nature Medicine 19,793 2013 Jul 8

Pleiotropy, genomic background, and complexity, The Mermaids Tale, Jul 11

Editorial: The gap in medical testing, The New York Times, Jul 7

Big data is good for your health, by Sharon Terry, Genetic Alliance, Jul 1

TCGA data consumption by the scientific community, National Cancer Institute, The Cancer Genome Atlas, Jun 28

Variation and genetic control of protein abundance in humans
Linfeng Wu et al. Nature, July 3

Perspective- Toward patient-centered drug development in oncology
Ethan Basch New Engl J Med July 3, 2013

Gene sleuths find how some naturally resist cholera, Nicholas Wade, New York Times, Jul 3

Complex traits sequencing for disease architecture.
Mary Muers Nature Reviews Genetics, July 2

Will Genomics England deliver a genomics revolution for health? By Dr Philippa Brice, Jul 5

UK government to announce launch of Genomics England, by Dr Philippa Brice, Jul 5

The significance of (looking for) genes for educational achievement, Mermaid’s Tale Blog Post, Jul 8

Gut microbes for life: Most strains of gut microbes stay with us for decades, which may prove useful for tracking our health, by Ed Yong, The Scientist, Jul 4


Tools and Databases

AHRQ: Registry of Patients Registries (RoPR) is a database of registry specific information intended to promote collaboration, reduce redundancy, and improve transparency

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Can molecular testing indicate optimal treatment in metastatic colorectal cancer?
Office of Public Health Genomics, Centers for Disease Control and Prevention, CDC Expert Commentary, Medscape, 2013 Jul 1

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics
Kalman LV, Lubin IM, Barker S, du Sart D, Elles R, Grody WW, Pazzagli M, Richards S, Schrijver I, Zehnbauer B. Arch Pathol Lab Med 2013 Jul;137(7):983-8

View previous CDC-authored publications

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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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