Genomics & Health Impact Update
Volume 31 Number 17 October 31 - November 7, 2013About the Update
Contents of the week
- Genomic Screening
- Familial Hypercholesterolemia
- Sudden Death in the Young
- Attention Deficit Hyperactivity Disorder
- Amyotrophic Lateral Sclerosis
- Healthy Aging & Family History
- Alzheimer's Disease & Genomics
- Sickle Cell Disease
- Stroke Awareness
Genomics Forum at the APHA Annual Meeting November 2-6, 2013, Boston MA
Genetics and Primary Care Institute: Genetics in Your Practice: Genetic Red Flags in Well-Checks, November 14, 2013, Webinar
A pilot study using next-generation sequencing in advanced cancers: Feasibility and challenges
Weiss G, et al. PLoS One 2013 8(10): e76438
A genomics-based classification of human lung tumors
The Clinical Lung Cancer Genome Project (CLCGP) and Network Genomic Medicine (NGM), Sci Transl Med 5(209):209ra153 2013 Oct 30
Genetic testing raises hope for lung cancer treatments, BBC News, Oct 30
Hereditary cancer risk assessment: essential tools for a better approach
Gomy I & Del Pilar Estevez Diz M Hered Cancer Clin Pract 2013 Oct;11(1):16
Perceptions, knowledge, and satisfaction with contralateral prophylactic mastectomy among young women with breast cancer: a cross-sectional survey
Rosenberg SM, et al. Ann Intern Med.2013 Sep 17;159(6):373-81
Women with breast cancer who opt for contralateral prophylactic mastectomy may overestimate future risk
Jin J JAMA 2013 Oct;310(15):1548
The impact of a genomic assay (Oncotype DX) on adjuvant treatment recommendations in early breast cancer
de Boer RH, et al. Med J Aust 2013 Aug;199(3):205-8
Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling
Richter S, et al. Ann Oncol 2013 Nov;24 Suppl 8:viii69--viii74
Prospects for biomarker based breast cancer profiling, PHG Foundation, Oct 30
Informed consent for return of incidental findings in genomic research.
Paul S. Appelbaum et al. Genetics in Medicine, Oct 24
New FDA Report, October 2013- Paving the Way for Personalized Medicine [PDF 854.45 KB] FDA's Role in a New Era of Medical Product Development
22-year longitudinal study of repetitive colonoscopy in patients with a family history of colorectal cancer
Randall JK, et al. Ann R Coll Surg Engl 2013 Nov;95(8):586-90
Digital family histories for data mining
Hoyt R, et al. Perspect Health Inf Manag 2013;10:1a
Family history tools for primary care are not ready yet to be implemented. A systematic review
de Hoog CL, et al. Eur J Gen Pract 2013 Oct
A genetic counselor’s guide to using next-generation sequencing in clinical practice. Flavia M. Facio et al., J Genet Counseling, October 2013
Effect of time to treatment on response to C1 esterase inhibitor concentrate for hereditary angioedema attacks
Craig TJ, et al. Ann Allergy Asthma Immunol 2013 Sep;111(3):211-5
The value of a genetic counselor: Improving identification of cancer genetic counseling patients with chart review
Eichmeyer JN, et al. J Genet Couns 2013 Oct
The economic burden of genetic tests for the infertile male: a pilot algorithm to improve test predictive value
Khurana KK, et al. J Urol 2013 Oct
Benefits, issues, and recommendations for personalized medicine in oncology in Canada
Butts C, et al. Curr Oncol 2013 Oct;20(5):e475-83
Diagnosis and treatment of polycystic ovary syndrome: An Endocrine Society clinical practice guideline
Legro R, et al. JCEM 2013 Oct 22
UK Genetic Testing Network recommends 60 new tests for NHS, by Dr Philippa Brice, PHG Foundation, Oct 29
Long-term follow-up of cystic fibrosis newborn screening: Psychosocial functioning of adolescents and young adults
Tluczek A, et al. J Cyst Fibros 2013 Oct
Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: implementation of a protocol to identify only the disease states of sickle cell disease
Moat SJ, et al. Clin Chem 2013 Oct
Parents’ interest in whole-genome sequencing of newborns
Goldenberg A, et al. Genetics in Medicine 2013 Jun 6
ASHG panelists discuss interest in sequencing-based newborn screening, Genome Web, Oct 29 [by free subscription only]
A pharmacogenetics service experience for pharmacy students, residents, and fellows
Drozda K, et al. Am J Pharm Educ 2013 Oct;77(8):175
Clinical validity of cytochrome P450 metabolism and serotonin gene variants in psychiatric pharmacotherapy
Altar C, et al. International Review of Psychiatry Vol. 25, No. 5, Pages 509-533
Stakeholder views on pharmacogenomic testing
Patel HN, et al. Pharmacotherapy 2013 Oct
Towards the implementation of CYP2D6 and CYP2C19 genotypes in clinical practice: Update and report from a pharmacogenetic service clinic
Muller DJ, et al. Int Rev Psychiatry 2013 Oct;25(5):554-71
Clinical utility of chromosomal microarray analysis in prenatal diagnosis: Report of first 6 months in clinical practice
Klugman S, et al. J Matern Fetal Neonatal Med 2013 Oct
A transcriptional signature for active TB: Have We found the needle in the haystack?
Cattamanchi A, et al. PLoS Med 10(10): e1001538
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Lambert J, et al. Nature Genetics 2013 Oct 27
Genetic insights into Alzheimer's disease, PHG Foundation, Oct 28
A century after Fisher: time for a new paradigm in quantitative genetics.
Ronald M. Nelson et al. Trends in Genetics, October 24
Genome hacker uncovers largest-ever family tree- Gigantic genealogy linking 13 million people sheds light on how genes influence complex traits.
Heidi Ledford, Nature 28 October 2013
Are we there yet or do strange things about life require new thinking? The Mermaid's Tale, Oct 30
Guest post: Human genetics is microbial genomics, Genome Unzipped, Oct 30
This just in: genes 'for' disease might be an outdated concept! Mermaid Blog, posted by Anne Buchanan, Oct 29
Genetics’ rite of passage- Find a gene, slap high-fives around the lab, publish to huzzahs, and then … uh-oh, by David Dobbs, Slate, Oct 27
Why the U.K. wants a genomic national health service- The U.K. plans to sequence 100,000 National Health Service patients by 2017—in a bold push to be a genomic medicine leader. Susan Young, MIT Reviews, Oct 25
Researchers spar over tests for breast cancer risks, Science Insider, Oct 24
Transcription and epigenetics.
Alex Eccleston et al, Nature, October 23
Decoding a genomic revolution: TedMed Video by Manolis Kellis, October 2013
RAvariome: a genetic risk variants database for rheumatoid arthritis based on assessment of reproducibility between or within human populations.
Nagai Y, et al. Database (Oxford). 2013 Oct 23;2013(0):bat073.
CDC authors are indicated in bold
Molecular characterization of ambiguous mutations in HIV-1 polymerase gene: Implications for monitoring HIV infection status and drug resistance.
Zheng DP, Rodrigues M, Bile E, Nguyen DB, Diallo K, Devos JR, Nkengasong JN, Yang C. PLoS One. 2013 Oct 17;8(10):e77649.
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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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