Volume 35 Number 4 July 23-30, 2015
Cancer
Brave-ish new world-what's needed to make precision oncology a practical reality.
MacConaill LE et al. JAMA Oncol 2015 Jul 16.
MacConaill LE et al. JAMA Oncol 2015 Jul 16.
Feasibility of large-scale genomic testing to facilitate enrollment onto genomically matched clinical trials.
Meric-Bernstam F et al. J. Clin. Oncol. 2015 May 26.
Meric-Bernstam F et al. J. Clin. Oncol. 2015 May 26.
Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone.
Taber JM et al. J Behav Med 2015 Jul 16.
Taber JM et al. J Behav Med 2015 Jul 16.
High prevalence of hereditary cancer syndromes in adolescents and young adults with colorectal cancer
Mork ME, et al. Journal of Clinical Oncology July 20, 2015
Mork ME, et al. Journal of Clinical Oncology July 20, 2015
The gynecological surveillance of women with Lynch syndrome in Sweden.
Tzortzatos G et al. Gynecol. Oncol. 2015 Jul 12.
Tzortzatos G et al. Gynecol. Oncol. 2015 Jul 12.
Treatment decision making and genetic testing for breast cancer: mainstreaming mutations
Katz S, et al. JAMA 2015 July 23
Katz S, et al. JAMA 2015 July 23
Tumor genetic screening programs: A call to action.
Hyman DM et al. J. Clin. Oncol. 2015 Jul 20.
Hyman DM et al. J. Clin. Oncol. 2015 Jul 20.
[2014 update of the GEFPICS' recommendations for HER2 status determination in breast cancers in France].
Penault-Llorca F et al. Ann Pathol 2014 Oct 34(5) 352-65
Penault-Llorca F et al. Ann Pathol 2014 Oct 34(5) 352-65
Chronic Diseases
A case for inclusion of genetic counselors in cardiac care: A case for genetic counselors.
Arscott P et al. Cardiol Rev 2015 Jul 16.
Arscott P et al. Cardiol Rev 2015 Jul 16.
A framework for bridging the gap in the care of familial hypercholesterolaemia in the community: pragmatic and economic perspectives.
Purchase S et al. Int J Evid Based Healthc 2014 Dec 12(4) 244-54
Purchase S et al. Int J Evid Based Healthc 2014 Dec 12(4) 244-54
Familial risk for lifestyle-related chronic diseases: can family health history be used as a motivational tool to promote health behaviour in young adults?
Prichard I et al. Health Promot J Austr 2015 Jul 16.
Prichard I et al. Health Promot J Austr 2015 Jul 16.
Lessons learned from family history in ocular genetics.
Marino MJ et al. Curr Opin Ophthalmol 2015 Jul 18.
Marino MJ et al. Curr Opin Ophthalmol 2015 Jul 18.
Routine genetic testing for thoracic aortic aneurysm and dissection in a clinical setting.
Ziganshin BA, et al. Ann Thorac Surg. 2015 Jul 15. pii: S0003-4975(15)00735-3.
Ziganshin BA, et al. Ann Thorac Surg. 2015 Jul 15. pii: S0003-4975(15)00735-3.
Users evaluate a detailed familial risk questionnaire as valuable and no more time consuming than a simple enquiry in a web-based diabetes risk assessment tool.
Wijdenes M et al. Public Health 2015 Jul 14.
Wijdenes M et al. Public Health 2015 Jul 14.
Personalized care for aortic aneurysms, based on gene testing, has arrived, by Ziba Kashef, Yale News, Jul 16
by Ziba Kashef, Yale News, Jul 16Ethics, Policy and Law
Informed consent, and an ethico-legal framework for paediatric observational research and biobanking: the experience of an Italian birth cohort study.
Toccaceli V et al. Cell Tissue Bank 2014 Dec 15(4) 579-90
Toccaceli V et al. Cell Tissue Bank 2014 Dec 15(4) 579-90
Start me up: ways to encourage sharing of genomic information with research participants.
Angrist Misha et al. Nat. Rev. Genet. 2015 Jul 17. 16(8) 435-6
Angrist Misha et al. Nat. Rev. Genet. 2015 Jul 17. 16(8) 435-6
The double helix: Applying an ethic of care to the duty to warn genetic relatives of genetic information.
Weaver M et al. Bioethics 2015 Jul 21.
Weaver M et al. Bioethics 2015 Jul 21.
Unwarranted optimism in media portrayals of genetic research on addiction overshadows critical ethical and social concerns.
Ostergren JE et al. J Health Commun 2015 20(5) 555-65
Ostergren JE et al. J Health Commun 2015 20(5) 555-65
Genomics in Practice
Achieving high-sensitivity for clinical applications using augmented exome sequencing
Patwardhan A, et al. Genome Medicine 2015, 7:71 Jul 16
Patwardhan A, et al. Genome Medicine 2015, 7:71 Jul 16
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Genome Biol. 2015 16(1) 134
Genome Biol. 2015 16(1) 134
Genetic testing: Low-cost clinical testing for Mendelian diseases.
Waldron D et al. Nat. Rev. Genet. 2015 Jul 17. 16(8) 439
Waldron D et al. Nat. Rev. Genet. 2015 Jul 17. 16(8) 439
Making personalized health care even more personalized: Insights from activities of the IOM Genomics Roundtable.
David SP et al. Ann Fam Med 2015 Jul 13(4) 373-80
David SP et al. Ann Fam Med 2015 Jul 13(4) 373-80
Optimal screening for genetic diseases.
Nævdal E et al. Econ Hum Biol 2014 Dec 15129-39
Nævdal E et al. Econ Hum Biol 2014 Dec 15129-39
Prevention, use of health services, and genes: Implications of genetics for policy formation.
Wehby GL et al. J Policy Anal Manage 2015 34(3) 519-36
Wehby GL et al. J Policy Anal Manage 2015 34(3) 519-36
Secondary findings and carrier test frequencies in a large multiethnic sample.
Gambin T et al. Genome Med 2015 7(1) 54
Gambin T et al. Genome Med 2015 7(1) 54
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing.
Sukenik-HR et al. Genet. Med. 2015 Jul 16.
Sukenik-HR et al. Genet. Med. 2015 Jul 16.
[Implementation of Italian guidelines on public health genomics in Italy: a challenging policy of the NHS].
Boccia S et al. Epidemiol Prev 38(6 Suppl 2) 29-34
Boccia S et al. Epidemiol Prev 38(6 Suppl 2) 29-34
High-risk world of rare genetic diseases: Research efforts improving, by Andrew Porterfield, Genetic Literacy Project, Jul 19
by Andrew Porterfield, Genetic Literacy Project, Jul 19Newborn Screening
Current and future perspective of newborn screening: an Indian scenario.
Kaur G et al. J. Pediatr. Endocrinol. Metab. 2015 Jul 18.
Kaur G et al. J. Pediatr. Endocrinol. Metab. 2015 Jul 18.
Parental education and the WHO neonatal G-6-PD screening program: a quarter century later.
Kaplan M et al. J Perinatol 2015 Jul 16.
Kaplan M et al. J Perinatol 2015 Jul 16.
Pharmacogenomics
Clinical practice recommendations on genetic testing of CYP2C9 and VKORC1 variants in warfarin therapy.
Shaw Kai et al. Ther Drug Monit 2015 Aug 37(4) 428-36
Shaw Kai et al. Ther Drug Monit 2015 Aug 37(4) 428-36
Reproductive Health
Non-invasive prenatal diagnosis for BRCA mutations - a qualitative pilot study of health professionals' views.
Bennett J et al. J Genet Couns 2015 Jul 16.
Bennett J et al. J Genet Couns 2015 Jul 16.
Prenatal diagnosis of DNA copy number variations by genomic single-nucleotide polymorphism array in fetuses with congenital heart defects.
Tang S et al. Fetal. Diagn. Ther. 2015 Jul 10.
Tang S et al. Fetal. Diagn. Ther. 2015 Jul 10.
Reviews, News and Commentaries
Younger adults with Alzheimer's are key to drug search, by John Hamilton, NPR, Jul 23
by John Hamilton, NPR, Jul 23Genetics study points toward eyedrop treatment for cataracts, by Eryn Brown, Los Angeles Times, Jul 22
by Eryn Brown, Los Angeles Times, Jul 22US tailored-medicine project aims for ethnic balance, by Sara Reardon, Nature News, Jul 21
by Sara Reardon, Nature News, Jul 21Big tech has your email and photos. Now it’s on a quest to own your DNA, by Daniela Hernandez, The Huffington Post, Jul 20
by Daniela Hernandez, The Huffington Post, Jul 20Clinical interpretation in genetic variation: when is a variant a mutation? Genomics Education Programme, Jul 20
Genomics Education Programme, Jul 20Doctors challenge Vertex over high price of cystic fibrosis drug, by Robert Weisman, Boston Globe, Jul 20
by Robert Weisman, Boston Globe, Jul 20The information within ourselves, Forbes, Jul 20
Forbes, Jul 20From lab bench to hospital bedside, faster, by Bradley J. Fikes, The San Diego Union Tribune, Jul 19
by Bradley J. Fikes, The San Diego Union Tribune, Jul 19No good deed goes unpunished, The Economist, Jul 18
The Economist, Jul 18Stem cell hope for mitochondrial disease sufferers, by Rebecca Burbidge, PHG Foundation, Jul 17
by Rebecca Burbidge, PHG Foundation, Jul 17Variation in the prevalence of familial hypercholesterolemia around the world, by Lena Mathews, American College of Cardiology, Jul 17
by Lena Mathews, American College of Cardiology, Jul 17The UK’s plan to sequence 100,000 human genomes, by Victoria Turk, Motherboard, Jul 17
by Victoria Turk, Motherboard, Jul 17How to succeed at clinical genome sequencing, by Dan Koboldt, Mass Genomics, Jul 16
by Dan Koboldt, Mass Genomics, Jul 16What comes next for direct-to-consumer genetics? By Aaron Krol, Bio IT World, Jul 16
By Aaron Krol, Bio IT World, Jul 16Why you should share your genetic profile, by David Haussler, San Francisco Chronicle, Jul 16
by David Haussler, San Francisco Chronicle, Jul 16Precision medicine can change health care – if we overcome silo thinking, by Enakshi Singh, diginomica, Jul 15
by Enakshi Singh, diginomica, Jul 15Tools and Databases
Zodiac: A comprehensive depiction of genetic interactions in cancer by integrating TCGA data.
Zhu Y, et al. J Natl Cancer Inst. 2015 May 8;107(8). pii: djv129.
Zhu Y, et al. J Natl Cancer Inst. 2015 May 8;107(8). pii: djv129.
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