Genomics & Health Impact Update
Volume 30 Number 21 May 23-30, 2013
It's a Genomic World!
- New blog post: Genomes at CDC: Man, mouse, and microbe—it's a genomic world!
- CDC 2013 publications in genomics
- CDC 2012 publications in genomics
- CDC new initiative: Advanced Molecular Detection (AMD) and response to infectious disease outbreaks
- CDC video: Director's briefing: Advanced-molecular detection
- Did you know that human genes have been associated with almost all diseases, including diseases with infectious and environmental causes, diseases of children and adult-onset chronic diseases. Search the HuGE Navigator for additional information on genes, diseases, infectious agents and environmental factors
- CDC information: Breast and ovarian cancer and family health history
- CDC information: Genetic testing for breast and ovarian cancer
- CDC blog post: Implementing evidence-based genomic tests at the intersection of public health & healthcare in Michigan & Connecticut
- My medical choice: my mother fought cancer for almost a decade and died at 56. By Angelina Jolie, New York Times May 14
- Jolie's double mastectomy shines light on preventing cancer, NPR News, May 15
- The choice, by Dr Mark Robson, Huffington Post, May 17
- What Angelina Jolie forgot to mention, by Dr H. Gilbert Welch, CNN, May 17
- Breast cancer: What is the risk? By Ben Carter BBC News, May 17
- Did you know: 1217 genes have been reported in relation to the risk of breast cancer, including 70 genomewide association studies. The most frequently studied genes are BRCA1 and BRCA2. To find out more, visit the HuGE Navigator
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [PDF 342.83 KB]
Robert C. Green, Jonathan S. Berg, Wayne W. Grody, et al. ACMG
- ACMG clarifies statements on return of incidental findings [PDF 132.05 KB]
- CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy
- EGAPP approach to classification of incidental findings: Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies. [PDF 656.44 KB]
Katrina A.B. Goddard et al. Genetics in Medicine May 2013
- Ethics and genomic incidental findings: Laboratories have an obligation to report clinically beneficial incidental findings.
Amy L. McGuire et al. Science May 16
- Patient autonomy and incidental findings in clinical genomics: Returning genetic incidental findings without patient consent is misguided.
Susan M. Wolf et al. Science May 16
- Genetic testing guidelines under fire, By Rachael Rettner, Fox News, May 20
Debate heats up on ACMG's incidental findings recommendations, Genome Web, May 20 [by free subscription only]
ACMG guidelines on IFs – responding to the response…, Genomes Unzipped, May 16
May is Mental Health Month
- CDC report on children’s mental health describes, for the first time, federal activities that track U.S. children’s mental disorders.
- CDC information on suicide prevention: Suicide is a serious public health problem that can have lasting harmful effects on individuals, families, and communities
- CDC information: Risk factors for suicide include family history of suicide
- Did you know 189 genes have been studied in relation to suicide risk, including 9 genomewide association studies. To find out more, visit the HuGE Navigator
- US Preventive Services Task Force recommends that family history of depression be considered with other risk factors when screening adults for depression
May is High Blood Pressure Month
- CDC Grand Round: Public health and clinical approaches to better identify, treat, and control high blood pressure
- World Health Organization: Silent killer, global public health crisis
- CDC information: Learn about high blood pressure
- MMWR article: Self-reported hypertension and use of antihypertensive medications among adults, United States, 2005-2009. Apr 5
- Risk factors for high blood pressure include family history. [PDF 94.84] Collect and act on your family history to cut your own risk from high blood pressure
- Did you know: 1522 genes have been reported with hypertension, including 70 genomewide association studies.
May is National Stroke Awareness Month
- CDC information: It’s a good time to make sure you know how to avoid a stroke, how to recognize when it happens, and what to do
- CDC stroke information: Stroke is a leading cause of death in the United States.
- CDC stroke information: Genomics and family history family health history is an important tool for identifying people at increased risk for stroke
- Did you know? 921 genes have been reported in relation to risk of stroke, including 53 genomewide association studies. To find out more, visit the HuGENavigator
May is Brain Tumor Awareness Month
- National Cancer Institute: A snapshot of brain & central nervous system cancers
- Mayo Clinic: Brain tumor risk factors include genetic diseases and family history
- Search CDC State Cancer Profiles Home Page for statistics on brain tumors and other cancers
- Did you know? 280 genes have been reported in relation to brain tumors, including 3 genomewide association studies. To find out more, visit the HuGE Navigator
- CDC and Emory University course: Translational Research in Genomic Medicine, Emory University, Atlanta, Georgia, August 15-16, 2013
A 2-day multi-disciplinary course on establishing the validity and utility of genomic applications in clinical medicine and disease prevention. Register now
- National Human Genome Research Institute: Genomic medicine pilot demonstration projects
Associations among family history of cancer, cancer screening and lifestyle behaviors: a population-based study
Bostean G, et al. Cancer Causes Control 2013 May
Colonoscopic surveillance of first-degree relatives of colorectal cancer patients in a faecal occult blood screening programme
Sassoli de Bianchi P, et al. Cancer Epidemiol 2013 May
Genetic risk assessment for women with epithelial ovarian cancer: Referral patterns and outcomes in a university gynecologic oncology clinic
Petzel SV, et al. J Genet Couns 2013 May
Individually tailored screening of breast cancer with genes, tumour phenotypes, clinical attributes, and conventional risk factors
Wu YY, et al. Br J Cancer 2013 May
- Special series on precision oncology. J Clin Oncology, May 20
Ethics, Policy and Law
Does a duty of disclosure foster special treatment of genetic research participants?
Hayeems RZ, et al. J Genet Couns 2013 May
Growing use of genomic data reveals need to improve consent and privacy standards
Kuehn B. JAMA 2013;309(20):2083-2084
Genomics in Practice
Effects of hypothetical type 2 diabetes genetic testing on parents' efforts to prevent diabetes in children
Tarini BA, et al. Clin Pediatr (Phila) 2013 May
- Medicine's future: A genomics curriculum for clinicians, A new CME curriculum tool from the National Coalition for Health Professional Edcuation in Genetics, May 21
- cobas® EGFR mutation test for lung cancer, FDA, May 17
The clinical utility of gene expression testing on the diagnostic evaluation of patients presenting to the cardiologist with symptoms of suspected obstructive coronary artery disease: results from the IMPACT (Investigation of a Molecular Personalized Coronary Gene Expression Test on Cardiology Practice Pattern) trial.
McPherson JA, et al. Crit Pathw Cardiol 2013 Jun;12(2):37-42
- The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
Jana Vandrovcova Genetics in Medicine May 16
Guidelines and Recommendations
- Whole-genome sequencing in health care Recommendations of the European Society of Human Genetics
Carla G van El et al. Eur J Hum Genet 2013; 21, 580–584
- Draft: risk assessment, genetic counseling, and genetic testing for BRCA-related cancer, U.S. Preventive Services Task Force Recommendation Statement, April 2013
- Comments of FORCE on the proposed USPSTF guidelines on BRCA counseling and testing, May 19
- Conference proceedings : 2013 Newborn Screening and Genetic Testing Symposium May 5-10, 2013
- CDC newborn screening: Family stories
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study
Inoue T, et al. J Hum Genet 2013 May
- Secretray Advisory Committee on Heritable Disorders of Newborns and Children recommends Pompe disease to be added to the universal newborn screening panel
Public Health Sciences
Using web-based familial risk information for diabetes prevention: a randomized controlled trial
Wijdenes M, et al. BMC Public Health 2013 May;13(1):485
Reviews and Commentaries on Science & Technology
- Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
Boone P, Campbell I, Baggett B, et al. Genome Res. 2013.
- Microbiomes R Us -- another form of science marketing, The Mermaid’s Tale Blog, May 21
- Pathogen genome tracks Irish potato famine back to its roots, by Ewen Callaway, Nature News, May 21
- Identifying the genomic determinants of aging and longevity in human population studies: Progress and challenges
Deelen J, Beekman M, Capri M, et al. BioEssays 2013; 35(4);386-396
- Molecular genetic testing and the future of clinical genomics
Sara Huston Katsanis & Nicholas Katsanis Nature Reviews Genetics, May 17
- Epigenetics: BPA and imprinting disruption.
Darren J. Burgess Nature Reviews Genetics, May 2013
- Genetic testing to form part of normal cancer care, by Dr Philippa Brice, PHG Foundation, May 20
- Cancer risk gene testing announced, BBC News, May 20
- Cancer, genomics and technological solutionism: A time to be wary, by Ashutosh Jogalekar, Scientific American, May 20
- The outrageous cost of a gene test, The New York Times, May 20
- Genetic testing for women at risk of cancer, The New York Times, May 16
- Who's your daddy? The perils of personal genomics, by Daniel Engber, Slate, May 21
Tools and Databases
A toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action
Nacul LC, et al. J Public Health (Oxf) 2013 May
- Review of PHG toolkit published, PHG Foundation, May 21
- PatientsLikeMe calls for researcher participation in new Open Research Exchange™ platform, patientslikeme, May 20
CDC authors are indicated in bold
Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral
Bellcross CA, Leadbetter S, Alford SH, Peipins LA. Cancer Epidemiol Biomarkers Prev. 2013 Apr;22(4):728-35.
Development of a genomic DNA reference material Panel for Myotonic Dystrophy Type 1 (DM1) genetic testing
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.. J Mol Diagn 2013 May
Comparative effectiveness research in cancer genomics and precision medicine: current landscape and future prospects
Simonds NI, Khoury MJ, Schully SD, Armstrong K, Cohn WF, Fenstermacher DA, Ginsburg GS, Goddard KA, Knaus WA, Lyman GH, Ramsey SD, Xu J, Freedman AN. J Natl Cancer Inst. 2013 May 9.
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