Genomics & Health Impact Update
Volume 30 Number 25 June 20 - June 27, 2013
CDC information: Public health action is now needed beyond newborn screening
Looking back at Myriad: A user’s guide, Genomic Law Report, Jun 19
Myriad ruling causes confusion, Nature News, Jun 18
Myriad, finally: Supreme Court surprises by not surprising, Genomics Law Report, Jun 18
The global alliance wants your genome data - why that's a good thing, Mark Wanner, Jackson Lab, Jun 17
I discovered the BRCA genes and I am delighted the Supreme Court ruled they cannot be patented, by Sara Reardon, Jun 15
7 takeaways from Supreme Court's gene patent decision, National Geographic, Jun 14
Gene patents invalid: final decision from Supreme Court, by Dr Philippa Brice, PHG Foundation, Jun 14
AMA welcomes an end to human gene patents, AMA, Jun 13
Clarity on patenting nature, New York Times editorial, Jun 13
CDC information: Why is family history important to your health?
Collect your family health history and share it with your provider: a tool from the US Surgeon General
CDC paper: Cancer genetics toolkit improves access to genetic services using family history in primary care,
Scheuner M et al, Genetics in Medicine Jun 13
Personalizing prenatal care using family health history: a new March of Dimes electronic screening tool, Bruce K Lin, Emily Edelman, Joseph D McInerney,et al. Personalized Medicine May 2013, Vol. 10, No. 3, Pages 307-318
Development & evaluation of a family history screening tool for common chronic disease prevention in primary care.
Walter FM, Prevost AT, Birt L et al. Br J Gen Pract. 2013 Jun;63(611):393-400.
Impact of Genomics on Economy and Health
Billion dollar impact of the Human Genome Project? PHG Foundation, Jun 13
Eyebrows cocked at genomics impact numbers, Genomeweb Daily, June 13
Genomic Medicine: A decade of successes, challenges, and opportunities
McCarthy J et al. Sci Trans Med Jun 2013
CDC harnesses technology to protect people and save lives, by Carlos Dominguez, The Hill Congress Blog, Jun 11
Sickle Cell Disease
CDC podcast: A century of sickle cell
CDC information: Sickle cell disease quiz- test your knowledge
Wellcome image of the month: Sickle cell disease, Wellcome Trust, Jun 19
CDC paper: Sickle cell disease in Africa: a neglected cause of early childhood mortality.
Grosse SD, Odame I, Atrash HK, et al. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S398-405.
Genome exhibit opens at Smithsonian, Blog post by Dr. Francis Collins, June 13th, 2013
Fifth annual consumer genomics conference, Sept 25-27, Boston, MA
The 5th Annual Personalized Medicine Conference- The Emerging Practice of Personalized Medicine, October 21-22, Boston, MA
Sixth International Conference on Birth Defects and Disabilities in the Developing World, Nov 10-13, Cebu, Philippines5th Pan Arab Human Genetics Conference and the Golden Helix Symposium 2013, with the theme “Genomics Into Healthcare”, November 17-19, 2013. Dubai, UAE
PCORI’s Engagement Awards: A New Opportunity to Build New Research Partnerships
by Anne C. Beal, MD, MPH, Susan Sheridan, MBA, MIM, and Suzanne Schrandt, JD, Jun 17
NIH Funding: Person-Centered Outcomes Research Resource (U2C)
Breast cancer index identifies early stage ER+ breast cancer patients at risk for early and late distant recurrence
Zhang Y, et al. Clin Cancer Res 2013 Jun
Singer CF, et al. Clin Genet 2013 Jun
Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention.
Lu KH, et al. Fam Cancer. 2013 Jun 14
Improving identification of Lynch syndrome patients: a comparison of research data with clinical records
Tan YY, et al. Int J Cancer 2013 Jun;132(12):2876-83
Mutational heterogeneity in cancer and the search for new cancer-associated genes.
Michael S. Lawrence et al. Nature, Jun 16
Prognostic utility of cell cycle progression score in men with prostate cancer after primary external beam radiation therapy
Freedland SJ, et al. Int J Radiat Oncol Biol Phys 2013 Jun
Selective estrogen receptor modulators and pharmacogenomic variation in ZNF423 regulation of BRCA1 expression: Individualized breast cancer prevention
James N. Ingle, Mohan Liu, D. Lawrence Wickerham Cancer Discovery 2013 Jun 17
Identifying women most likely to respond to preventive breast cancer therapy, Medical News Today, Jun 17
Towards a vaccine to prevent cancer in Lynch syndrome patients.
von Knebel Doeberitz M,et al. Fam Cancer. 2013 Jun 13
Genetic variants could help direct breast cancer prevention therapy, by Rebecca Voelker, JAMA News, Jun 13
Ethics, Policy and Law
Genetic data and electronic health records: a discussion of ethical, logistical and technological considerations
Shoenbill K, et al. J Am Med Inform Assoc 2013 Jun
Poking holes in genetic privacy, by Gina Kolata, New York Times, Jun 16
Using multiple methods to characterize the phenotype of individuals with a family history of major depressive disorder
Watters AJ, et al. J Affect Disord 2013 Jun
A comprehensive assay for CFTR mutational analysis using next-generation sequencing
Ahmad N. Abou Tayoun et al. Clin Chemistry, May 2013
Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)
Mayer K, et al. Eur J Hum Genet 2013 Jun
Clinical utility of KRAS and BRAF mutations in a cohort of patients with colorectal neoplasms submitted for microsatellite instability testing
Cushman-Vokoun AM, et al. Clin Colorectal Cancer 2013 Jun
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders
Gary Stobbe et al. Genetics in Medicine, Jun 13
Next-generation carrier screening
Mark A. Umbarger et al. Genetics in Medicine Jun 13
Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF 275.11 KB]
Alison M Meynert et al. BMC Bioinformatics 2013, 14:195
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study
Wei X, et al. Eur J Hum Genet 2013 Jun
Guidelines and Recommendations
ACMG standards and guidelines for fragile X testing: a revision to the disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American College of Medical Genetics and Genomics
Kristin G. Monaghan et al. Genetics in Medicine, Jun 13
AHRQ Evidence Report: Oral Contraceptive Use for the Primary Prevention of Ovarian Cancer[PDF 6.85 MB] Insufficient evidence on oral contraceptive use solely for prevention of ovarian cancer, including for women with BRCA mutations/family history
Best practice guidelines for the use of Next Generation Sequencing (NGS) Applications in genome diagnostics: A national collaborative study of Dutch Genome Diagnostic Laboratories
Weiss MM, et al. Hum Mutat 2013 Jun
Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey
Dilli D, et al. J Clin Res Pediatr Endocrinol 2013 Jun;5(2):73-9
Pharmacogenetic testing in the UK clinical setting
Bartlett MJ, et al. Lancet 2013 Jun;381(9881):1903
Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study
Qi QW, et al. Chin Med J (Engl) 2013 Jun;126(11):2007-10
Knowledge, attitudes and decision-making in Czech women with atypical results of prenatal screening tests for the most common chromosomal and morphological congenital defects in the fetus: Selected questionnaire results
Skutilova V Biomed Pap Med Fac Univ Palacky Olomouc Czech 2013 Jun
Public Health Sciences
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records
McDavid A, et al. PLoS One 2013;8(6):e63481
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study
Perera MA, et al. Lancet 2013 Jun
Genome-wide comparison of medieval and modern Mycobacterium leprae
Verena J. Schuenemann et al. Science, Jun 17
Mechanistic Evidence in Evidence-Based Medicine: A Conceptual Framework
Goodman SN, Gerson J. Research White Paper June 13
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Morrison AC, Voorman A, et al. Nat Genet. 2013 Jun 16.
Reviews and Commentaries on Science & Technology
Pitfalls of predicting complex traits from SNPs
Naomi R. Wray, Jian Yang, Ben J. Hayes, et al. Nature Reviews Genetics 14,507–515 2013 Jun 18
Nature Reviews Genetics Translational Genetics Series: Articles document the many ways in which genetic knowledge is changing medical practice
CDC authors are indicated in bold
Prevalence and genetic diversity of norovirus among patients with acute diarrhea in Guatemala
Estevez A, Arvelo W, Hall AJ, Lopez MR, Lopez B, Reyes L, Moir JC, Gregoricus N, Vinje J, Parashar UD, Lindblade KA. J Med Virol. 2013 Apr 17.
Isolation and full genomic characterization of Batai virus from mosquitoes, Italy 2009
Huhtamo E, Lambert AJ, Costantino S, Servino L, Krizmancic L, Boldorini R, Allegrini S, Grasso I, Korhonen EM, Vapalahti O, Lanciotti RS, Ravanini P. J Gen Virol. 2013 Jun;94(Pt 6):1242-8.
The geometric increase in meta-analyses from China in the genomic era
Ioannidis JP, Chang CQ, Lam TK, Schully SD, Khoury MJ. PLoS One. 2013 Jun 12;8(6):e65602.
Telomere length and elevated iron: the influence of phenotype and HFE genotype
Mainous AG, Wright RU, Hulihan MM, Twal WO, McLaren CE, Diaz VA, McLaren GD, Argraves WS, Grant AM. Am J Hematol. 2013 Jun;88(6):492-6.
A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians
Maren T. Scheuner, Alison B. Hamilton, Jane Peredo, Taylor J. Sale, Colletta Austin, Stuart C. Gilman, M. Scott Bowen, Caroline Lubick Goldzweig, Martin Lee, Brian S. Mittman & Elizabeth M. Yano. Genetics in Medicine, June 13
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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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