Genomics & Health Impact Update
Volume 30 Number 24 June 13 - June 20, 2013
- Supreme Court says isolated human genes cannot be patented, Associated Press, Jun 13
- Supreme Court rules human genes may not be patented, The New York Times, Jun 13
- Court: Human genes cannot be patented, CNN, Jun 13
- Justices rule human genes cannot be patented, USA Today, Jun 13
- Opinion recap: No patent on natural gene work, Scotusblog, June 13
- The Impact of genomics on the U.S. economy: United for Medical Research 2013 report
- Billion dollar impact of the Human Genome Project? PHG Foundation, Jun 13
- CDC Advanced Molecular Detection Initiative
- CDC harnesses technology to protect people and save lives, by Carlos Dominguez, The Hill Congress Blog, Jun 11
- CDC blog post: Walking before running: genomic medicine 10 years after the human genome project
- CDC blog post: Public health genomics 15 years on
Cancer Screening in the Age of Genomics
Prostate Cancer Screening
- Untangling evidence: Prostate cancer screening, informed decision making and including risk due to family history or ancestry American Society for Clinical Oncology, June 2013
- U.S. Preventive Services Task Force, recommends against PSA-based screening for men who do not have symptoms (2012)
- EGAPP Evidence review: How effective are multigene panels in prostate cancer risk assessment [PDF 1.48 MB] (2013)
- Mainstream medicine moves beyond a one-size-fits-all approach to prostate cancer screening, Medcity News, Jun 2
Breast Cancer Screening
- Breast cancer screening: Conflicting guidelines and medicolegal risk
Allen Kachalia, Michelle M. Mello, JAMA May 30 2013
- Sorting through the arguments on breast screening
Michael G. Marmot, JAMA May 30
- Draft: risk assessment, genetic counseling, and genetic testing for BRCA-related cancer, U.S. Preventive Services Task Force Recommendation Statement, April 2013
Stratified Screening on the Basis of Genomics?
- Incorporating genomics into breast and prostate cancer screening: assessing the implications. Chowdhury S et al. Genetics in Medicine Feb 14
- 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
- Public health implications from 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 2013
Personalised medicine - the big questions, PHG Foundation, Jun 12
UK takes major step towards personalised medicine, PHG Foundation, Jun 12
- Measles is serious: Take care before and after travel
- CDC information: Measles is a highly contagious respiratory viral infection
- What do we know about genetic susceptibility to measles infections, complications, response to interventions and outcomes? The HuGENavigator lists 41 genetic associations on 89 genes studies since 2001. There are no genomwide association studies. Most common studies genes are HLA-related
- Unlocking Life's Code Exhibit at the Smithsonian Institution, opening June 14
- HRSA Webinar on Genetic Services and the Affordable Care Act, June 19
- Institute of Medicine workshop, Genomics-Enabled Drug Repurposing and Repositioning, June 24
- Adherence to microsatellite instability testing in young-onset colorectal cancer patients.
Kessels K,et al. Dis Colon Rectum. 2013 Jul;56(7):825-833.
Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer - the DNA microarray assay
Stojcev Z, et al. Acta Biochim Pol 2013 Jun
- Improving identification of lynch syndrome patients: a comparison of research data with clinical records.
Tan YY, McGaughran J, Ferguson K, et al. Int J Cancer. 2013 Jun 15;132(12):2876-83.
Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk
Tilanus-Linthorst MM, et al. Int J Cancer 2013 Jul;133(1):156-63
- Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing.
Flander L, Speirs-Bridge A, Rutstein A, et al. J Genet Couns. 2013 Jun 9.
Timing of referral for genetic counseling and genetic testing in patients with ovarian, fallopian tube, or primary peritoneal carcinoma
Novetsky AP, et al. Int J Gynecol Cancer 2013 Jun
- Can molecular subtype classification improve chemotherapy decision for patients with colorectal cancer? BioNews Texas, Jun 7
- Public Health England to launch largest cancer database, BBC News, Jun 12
- Significant under-use of genetic testing for inherited cancers puts health of entire families at risk, Science Daily, Jun 7
Ethics, Policy and Law
- Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem?
Steinsbekk KS, Kåre Myskja B, Solberg B. Eur J Hum Genet. 2013 Jan 9.
- The digital future of molecular medicine: Rethinking FDA regulation, [PDF 3.58 MB] by Peter Huber, Manhattan Institute, May 2013
- Be prepared for the big genome leak
Steven E. Brenner, Nature 498(7453): 139 2013 Jun 13
- An education in ‘re-identification’: Learning from the Personal Genome Project, by Leila Jamal, DNA Exchange, Jun 7
- Whole genome scans could reveal too much, National Public Radio, Jun 7
Development and evaluation of a brief self-completed family history screening tool for common chronic disease prevention in primary care
Walter FM, et al. Br J Gen Pract 2013 Jun;63(611):393-400
- Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims
Christian van der Werf, Astrid T Onderwater, Irene M van Langen and Ellen MA Smets Eur J Hum Genet, June 5
Family history of dilated cardiomyopathy among patients with heart failure from the HF-ACTION genetic ancillary study
Hudson L, et al. Clin Transl Sci 2013 Jun;6(3):179-83
Predictive value of having positive family history of cardiovascular disorders, diabetes mellitus, dyslipidemia, and hypertension in non-alcoholic Fatty liver disease patients
Ghamar-Chehreh ME, et al. Acta Med Iran 2013;51(5):307-13
Genomics in Practice
Assessing the utility of genetic tests
Sun F, et al. J Ambul Care Manage 2013 Jul-2013 Sep;36(3):222-32
Knowledge of and interest in genetic results among Parkinson disease patients and caregivers
Sakanaka K, et al. J Genet Couns 2013 Jun
Medical genetics and genetic counseling in Chile
Margarit SB, et al. J Genet Couns 2013 Jun
- Statins in the primary prevention of cardiovascular disease
Željko Reiner Nature Reviews Cardiology, Jun 4
What's the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals
Bensend TA, et al. J Genet Couns 2013 Jun
Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC)
Te Rijdt WP, et al. Eur J Hum Genet 2013 Jun
Clinical utility gene card for: Hereditary thrombocythemia
Hussein K, et al. Eur J Hum Genet 2013 Jun
Guidelines and Recommendations
Evidence-based recommendations for the practical management of familial mediterranean fever
Hentgen V, et al. Semin Arthritis Rheum 2013 Jun
- Parents’ interest in whole-genome sequencing of newborns.
Aaron J. Goldenberg et al. Genetics in Medicine, Jun 6
Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency
Forni S, et al. Mol Genet Metab 2013 May
Clinical delivery of pharmacogenetic testing services: a proposed partnership between genetic counselors and pharmacists
Mills R & Haga SB Pharmacogenomics 2013 Jun;14(8):957-68
Cost-effectiveness of pharmacogenetic-guided dosing of phenprocoumon in atrial fibrillation
Verhoef TI, et al. Pharmacogenomics 2013 Jun;14(8):869-83
Implementation and outcomes of a live continuing education program on pharmacogenomics
Kuo GM, et al. Pharmacogenomics 2013 Jun;14(8):885-95
First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing.
Nicolaides KH, Wright D, Poon LC, et al. Ultrasound Obstet Gynecol. 2013 Jun 7
Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies
Gil MM, S Quezada M, Bregant B, et al. Ultrasound Obstet Gynecol. 2013 Jun 7.
Public Health Sciences
Characterization of uterine leiomyomas by whole-genome sequencing
Mehine M, Kaasinen E, Mäkinen N, et al. N Engl J Med. 2013 Jun 5.
- Fibroids' genomic landscape revealed, Medscape, Jun 7
Genetic risk of suicidal behavior in bipolar spectrum disorder: analysis of 737 pedigrees
Manchia M, et al. Bipolar Disord 2013 Jun
- The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Omri Gottesman et al. Genetics in Medicine, Jun 6
Impact of atorvastatin treatment in first-degree relatives of patients with premature coronary artery disease with endothelial dysfunction: A double-blind, randomized, placebo-controlled crossover trial
Hong SJ, et al. Clin Cardiol 2013 Jun
- Mycobacterium tuberculosis mutation rate estimates from different lineages predict substantial differences in the emergence of drug-resistant tuberculosis
Christopher B Ford, et al. Nature Genetics Jun 9
- Patient stratification for preventive care in dentistry
W.V. Giannobile et al. J Dental Res Jun 2013
Understanding the expectations of patients with inherited retinal dystrophies
Combs R, et al. Br J Ophthalmol 2013 Jun
Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method
Eden M, et al. Br J Ophthalmol 2013 Jun
Reviews and Commentaries on Science & Technology
Clinical relevance of pharmacogenetics in gastrointestinal stromal tumor treatment in the era of personalized therapy
Angelini S, et al. Pharmacogenomics 2013 Jun;14(8):941-56
- Progress in global surveillance and response capacity 10 years after severe acute respiratory syndrome.
Braden CR et al. Emerging Infectious Diseases, Jun 2013
- Personalized cardiovascular medicine: concepts and methodological considerations.
Völzke H, Schmidt CO, Baumeister SE, Ittermann T, et al. Nat Rev Cardiol. 2013 Jun;10(6):308-16.
- Million veterans sequenced.
Josh P Roberts Nature Biotechnology, June 10
- Biology: The big challenges of big data
Vivien Marx Nature 498,255–260 Jun 13
Role of interactions in pharmacogenetic studies: leukotrienes in asthma
Via M, et al. Pharmacogenomics 2013 Jun;14(8):923-9
- Citizen science as a novel scientific instrument, by Caren Cooper, PLoS Blogs, Jun 12
- The promise in unraveling the mysteries of rare diseases, National Public Radio, Jun 10
- Public awareness of direct-to-consumer genetic tests, National Cancer Institute, HINTS, 2013 survey data
- What happened when I had my genome sequenced? Carole Cadwalladr, The Observer, Jun 8
- The challenge of personalizing health care, David Nash, Managed Care
- Epigenetics on the edge of human nature, goodbye to all that, by Jason Antrosio, Human Nature, Jun8
- “Epigenetics: Hope your week went well. It may have messed with your genes” by Nessa Carey, Nautilus, Jun 2013
- Equity in public health: An epigenetic perspective
Stapleton G, Schröder-Bäck P, Townend D Public Health Genomics 2013
- Data emphasise need for comprehensive analysis of mtDNA in mitochondrial disease patients, Medical News Today, Jun 10
- Sequencing studies in human genetics: design and interpretation [PDF 609.58 KB]
David B. Goldstein et al. Nature Review Genetics, Jun 2013
- Pleiotropy in complex traits: challenges and strategies.
Nadia Solovieff et al. Nature Review Genetics, Jun 11
Tools and Databases
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Gottesman O, et al. Genet Med 2013 Jun
CDC authors are indicated in bold
Genetic and phenotypic characterization of manufacturing seeds for a tetravalent dengue vaccine (DENVax)
Huang CY, Kinney RM, Livengood JA, Bolling B, Arguello JJ, Luy BE, Silengo SJ, Boroughs KL, Stovall JL, Kalanidhi AP, Brault AC, Osorio JE, Stinchcomb DT. PLoS Negl Trop Dis. 2013 May;7(5):e2243.
Mortality risk of black women and white women with invasive breast cancer by hormone receptors, HER2, and p53 status
Ma H, Lu Y, Malone KE, Marchbanks PA, Deapen DM, Spirtas R, Burkman RT, Strom BL, McDonald JA, Folger SG, Simon MS, Sullivan-Halley J, Press MF, Bernstein L. BMC Cancer. 2013 ;13:225.
Hepatocellular carcinoma and hepatitis B virus: family matters
McMahon BJ. Clin Gastroenterol Hepatol. 2013 Jun 1.
The genome sequence of Lone Star virus, a highly divergent bunyavirus found in the Amblyomma americanum tick
Swei A, Russell BJ, Naccache SN, Kabre B, Veeraraghavan N, Pilgard MA, Johnson BJ, Chiu CY. PLoS One. 2013 ;8(4):e62083.
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