Genomics & Health Impact Update
Volume 31 Number 12 September 19 -26 , 2013About the Update
Genome sequencing for healthy individuals.
Saskia C. Sanderson. Trends in Genetics, Sep 11
If I'm healthy, why should I have my genome sequenced? Mermaid Tale Blogpost, Aug 6
Should you get sequenced? Nancy Snyderman, NBC News, August 2013
Sequenced from the start. Nature Editorial- “The day when all children will be sequenced at birth — if not before — draws ever nearer”, September 11
Whole genome sequencing in support of wellness and health maintenance. [PDF 262.34 KB]
Patel C et al. Genome Medicine, June 2013
Should we sequence everyone's genome? No.
Frances Flinter BMJ 2013;346:f3132
Should we sequence everyone's genome? Yes.
John Burn BMJ 2013;346:f3133
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine 2013 Aug 1
CDC blog post: On spinning wheels and genomes revealed: sequencing is no longer a sleeping controversy. March 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genetics in Medicine, Jun 2013
ACMG recommendations on incidental findings are flawed scientifically and ethically
Holtzman NA Genet Med 2013 Sep;15(9):750-1
Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard Townsend A, et al. Genet Med 2013 Sep;15(9):751-2
Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing.
Barbara J. Evans, Genetics in Medicine, Sep 12
Disclosing incidental findings in genetics contexts: A review of the empirical ethical research
Christenhusz GM, et al. Eur J Med Genet 2013 Sep
CDC report: Antibiotic resistance threats in the United States, 2013 gives a first-ever snapshot of the burden and threats posed by the antibiotic-resistant germs having the most impact on human health.
CDC Director's video briefing: Serious health threat of antibiotic-resistant germs, Sep 16
New national strategies to tackle antibiotic resistance, by Dr Philippa Brice, PHG Foundation, Sep 17
Genomic analysis of superbug provides clues to antibiotic resistance. Science Daily (2011)
Coping with antibiotic resistance: contributions from genomics.
Gian Maria Rossolini et al. Genome Medicine (2010)
Antimicrobial drug resistance, information from the National Institute on Allergy and Infectious Diseases
Genomics Research: The underpinning of infectious disease prevention and control strategies. Public Health Genomics special issue (2013)
What is genetic counseling and who are genetic counselors? Information from the National Society for Genetic Counselors
One health insurer will require patients to get genetic counseling before testing for selected genetic conditions. Matthew Sturdevant, Hartford Courant August 2013
American Society For Clinical Oncology: New insurance policy on cancer genetic testing poses risks to high quality cancer care. Sep 6
High cholesterol in the family: A heart disease risk you may not know you have, by Jennifer J Brown, PhD, Everyday Health
International Familial Hypercholesterolemia Summit: From awareness to action, September 19, Annapolis, Maryland
What is familial hypercholesterolemia? It is a common genetic condition associated with premature heart disease and stroke, FH Foundation information
CDC podcast: Cascade screening in familial hypercholesterolemia
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society
Eur Heart J, Aug 15
New CDC blog post: Genetic epidemiology-what a difference 20 years can make!
Human genome epidemiology: Building the evidence base for using genomic information to improve health and prevent disease
The Human Genome Epidemiology Navigator (HuGE Navigator): An online continuously update curated database of epidemiologic studies of human genetic variation in relation to human diseases
GWAS Integrator: Provides robust lookup and analytic functionalities for all published GWAS studies that are available in several databases
Genetic epidemiology with a capital E, Ten years after
Muin J. Khoury, et al. Genetic Epidemiology (2011)
Newborn screening: Saving lives for 50 years- What do you know about newborn screening? Take CDC quiz to find out
CDC information on newborn screening
Each year, millions of babies in the U.S. are routinely screened, using a few drops of blood from the newborn's heel, for certain genetic, endocrine, and metabolic disorders
March of Dimes information: Early detection due to Newborn Screening saves & improves the lives of 12000 babies a year
CDC information: 25 years a champion for health equity
CDC information: Health disparities in cancer
Society, genetics, and health, American Journal Public Health, October 2013 supplement
Integrating social science and behavioral genetics: Testing the origin of socioeconomic disparities in depression
Briana Mezuk et al. AJPH, October 2013
Deep integration: Letting the epigenome out of the bottle.
Arline T. Geronimus. AM J Public Health, October 2013
Clinical Genomics in the 21st Century: Jackson Laboratory, Oct. 5-6 Farmington, CT
The 32nd National Society For Genetic Counsellors Annual Education Conference, Oct 9-12, 2013, Annaheim, CA
Genomics Forum, American Public Health Association, Nov 2-6, Boston, MA
Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.
Arts-de Jong M, et al. Int J Gynecol Cancer. 2013 Aug 21
Association between documented family history of cancer and screening for breast and colorectal cancer
Carney PA, et al. Prev Med 2013 Sep
Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).
Andrés R et al. Clin Transl Oncol. 2013 Aug 27.
Genetic counseling, cancer screening, breast cancer characteristics, and general health among a diverse population of BRCA genetic testers.
Beattie MS, et al. J Health Care Poor Underserved. 2013;24(3):1150-66.
Lynch syndrome in high risk Ashkenazi Jews in Israel.
Goldberg Y, et al. Fam Cancer. 2013 Aug 30.
A molecular signature predictive of indolent prostate cancer
Shazia Irshad, et al. Sci Transl Med 11 September 2013; 5(202):202ra122
Genetic test could identify aggressive prostate cancers, Global Post, Sep 11
A national survey of hereditary colorectal cancer services in the UK.
Kevin J Monahan et al. Frontline Gastroenterology, Sep 16
Plateau effect of prostate cancer risk-associated SNPs in discriminating prostate biopsy outcomes
Ren S, et al. Prostate 2013 Aug
Calls for genetic screening of ovarian cancer patients, PHG Foundation, Sep 18
Enhancing informed choice to undergo health screening: a systematic review.
Biesecker BB, et al. Am J Health Behav. 2013 May;37(3):351-9.
Ethical, legal, and social implications of incorporating genomic information into electronic health records
Hazin R, et al. Genet Med 2013 Sep
The ethics of contacting family members of a subject in a genetic research study to return results for an autosomal dominant syndrome
Taylor HA & Wilfond BS Am J Bioeth 2013 Oct;13(10):61
Breast cancer gene patents: the Canadian story, CBC News, Sep 18
The relationship of a family history for hypertension, myocardial infarction, or stroke with cardiovascular physiology in young women
McBride CA, et al. Reprod Sci 2013 Sep
Genetic screening for the predisposition to venous thromboembolism: a cost-utility analysis of clinical practice in the Italian health care system
Compagni A, et al. Value Health 2013 Sep-2013 Oct;16(6):909-21
Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007
Shea L, et al. Hum Genet 2013 Sep
JScreen public health initiative launches to fight Jewish genetic diseases, Woodruff Health Sciences Center, Emory University, Sep. 16
Offering prenatal diagnostic tests: European guidelines for clinical practice guidelines
Skirton H, et al. Eur J Hum Genet 2013 Sep
Special report: Exome sequencing for clinical diagnosis of patients with suspected genetic disorders, Technology Evaluation Center (TEC), Sep 2013
Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil
de Castro Lobo CL, et al. Pediatr Blood Cancer 2013 Sep
Pharmacotherapy effects on smoking cessation vary with nicotine metabolism gene (CYP2A6)
Chen LS, et al. Addiction 2013 Sep
Taking part in a pharmacogenetic clinical trial: assessment of trial participants understanding of information disclosed during the informed consent process
Rose D, et al. BMC Med Ethics 2013 Sep;14(1):34
The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: A survey of obstetric hospital clients of a prenatal testing laboratory.
Nishiyama M, et al. J Genet Couns. 2013 Aug 24.
Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.
Liane Ioannou et al. Genetics in Medicine, Sept 12
The cost-effectiveness of maturity-onset diabetes of the young genetic testing - translating genomic advances into practical health applications
Naylor RN, et al. Diabetes Care 2013 Sep
The establishment of core competencies for Canadian genetic counsellors: Validation of practice based competencies
Ferrier RA, et al. J Genet Couns 2013 Sep
Genetic susceptible locus in NOTCH2 interacts with arsenic in drinking water on risk of Type 2 Diabetes.
Pan WC, et al. PLoS One. 2013 Aug 14;8(8):e70792
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
Franceschini N, et al. Am J Hum Genet. 2013 Sep 5;93(3):545-54.
Genes tied to high blood pressure found in black Americans, U.S. News & World Report, Sep 16
Genotype- and phenotype-directed personalization of antiplatelet treatment in patients with non-ST elevation acute coronary syndromes undergoing coronary stenting
Ahn SG, et al. Korean Circ J 2013 Aug;43(8):541-9
A host-based RT-PCR gene expression signature to identify acute respiratory viral infection
Zaas A, et al. Sci Transl Med 5(203):203ra126 2013 Sep 18
Study supports potential of PCR-based blood test for respiratory virus infection, Genome Web, Sep 18 [by free subscription only]
Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research
Ioannou L, et al. Genet Med 2013 Sep
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
Peter A C 't Hoen et al. Nature Biotechnology, September 15
The return of unexpected research results in a biobank study and referral to health care for heritable Long QT syndrome
Haukkala A, et al. Public Health Genomics 2013 Sep:241-50
Stakeholder engagement: a key component of integrating genomic information into electronic health records
Hartzler A, et al. Genet Med 2013 Sep
The genetics of asthma and allergic diseases: pieces of the puzzle are starting to come together.
Laprise C, Bouzigon E. Curr Opin Allergy Clin Immunol. 2013 Oct;13(5):461-2.
Tumour heterogeneity in the clinic
Bedard P, et al. Nature 501, 355-364 2013 Sep 18
NIH approves first uses of HeLa genome, Nature blog post, Sep 17
DNA double take, Carl Zimmern, The New York Times, Sep 16
Uncovering functional variation in humans by genome and transcriptome sequencing, Genomes Unzipped blog, Sep 16
Why personalised medicine is bad for us all, by Donna Dickenson, New Scientist, Sep 16
The college class that could reveal your real father- College students are testing their own DNA, but the results — from paternity to genetic diseases — can be a shock, by K Cengel, Salon News, Sep 14
After disasters, DNA science is helpful, but often too pricey, National Public Radio Health news, Sep 13
How personalized will medicine get? National Public Radio Health news, Sep 13
10 reasons the human genome matters in medicine, GENENEWS Highlights, Sep 12
Economics of gene sequencing, by Jeanna Smialek , Bloomberg News, Sep 12
NIH scientists pursue new therapies to improve rare disease drug development, NIH News, Sep 12
Answering common questions about genetic testing, Videos from the NHS Education Center, UK
The rise of the digital epidemiologist: Using big data to track outbreaks and disasters, M Braga, Financial Post, Sep 9
10 reasons for the data science mania, by Robin Bloor, Sep 5
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