Volume 35 Number 13 September 24-30, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Early screening in children at genetic risk of coeliac disease.
Mennini M et al. J. Pediatr. Gastroenterol. Nutr. 2015 Sep 16.
Mennini M et al. J. Pediatr. Gastroenterol. Nutr. 2015 Sep 16.
Special report: chromosomal microarray for the genetic evaluation of patients with global developmental delay, intellectual disability, and autism spectrum disorder.
Technol Eval Cent Assess Program Exec Summ 2015 Aug 30(2) 1-4
Technol Eval Cent Assess Program Exec Summ 2015 Aug 30(2) 1-4
The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
Stafler P et al. J. Cyst. Fibros. 2015 Sep 16.
Stafler P et al. J. Cyst. Fibros. 2015 Sep 16.
Toward personalized medicine: does genetic diagnosis of pediatric cardiomyopathy influence patient management?
Lee TM et al. Prog. Pediatr. Cardiol. 2015 Jul 1. 39(1) 43-47
Lee TM et al. Prog. Pediatr. Cardiol. 2015 Jul 1. 39(1) 43-47
Cancer
Breast cancer survivors' knowledge of hereditary breast and ovarian cancer following genetic counseling: An exploration of general and survivor-specific knowledge items.
Scherr CL et al. Public Health Genomics 2015 Sep 22.
Scherr CL et al. Public Health Genomics 2015 Sep 22.
Genetic diversity of pancreatic ductal adenocarcinoma and opportunities for precision medicine.
Knudsen ES et al. Gastroenterology 2015 Sep 15.
Knudsen ES et al. Gastroenterology 2015 Sep 15.
Utility of Oncotype DX risk assessment in patients with invasive lobular carcinoma.
Tsai ML et al. Clin. Breast Cancer 2015 Aug 19.
Tsai ML et al. Clin. Breast Cancer 2015 Aug 19.
Chronic Diseases
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
Zentner D et al. Med. J. Aust. 2015 Sep 21. 203(6) 261
Zentner D et al. Med. J. Aust. 2015 Sep 21. 203(6) 261
Ethics, Policy and Law
Attitudes of the general public towards the disclosure of individual research results and incidental findings from biobank genomic research in Australia.
Fleming J et al. Intern Med J 2015 Sep 21.
Fleming J et al. Intern Med J 2015 Sep 21.
Participant satisfaction with a preference-setting tool for the return of individual research results in pediatric genomic research.
Holm IA et al. J Empir Res Hum Res Ethics 2015 Oct 10(4) 414-26
Holm IA et al. J Empir Res Hum Res Ethics 2015 Oct 10(4) 414-26
Supreme Court to Myriad Genetics: Synthetic DNA is patentable but isolated genes are not.
Weinmeyer R et al. AMA J Ethics 2015 17(9) 849-53
Weinmeyer R et al. AMA J Ethics 2015 17(9) 849-53
The National Institutes of Health Oversight of Human Gene Transfer Research: Enhancing science and safety.
O'Reilly M et al. Adv. Exp. Med. Biol. 2015 87131-47
O'Reilly M et al. Adv. Exp. Med. Biol. 2015 87131-47
United States Food and Drug Administration regulation of gene and cell therapies.
Bailey AM et al. Adv. Exp. Med. Biol. 2015 8711-29
Bailey AM et al. Adv. Exp. Med. Biol. 2015 8711-29
Scientists must be part of the ethical debate on human genetics, by Philip Ball, the Guardian, September 21, 2015
Genomics in Practice
Exploring the potential emotional and behavioural impact of providing personalised genomic risk information to the public: A focus group study.
Smit AK et al. Public Health Genomics 2015 Sep 22.
Smit AK et al. Public Health Genomics 2015 Sep 22.
Genomics is rapidly advancing precision medicine for immunological disorders.
Zhang Y et al. Nat. Immunol. 2015 Sep 18. 16(10) 1001-4
Zhang Y et al. Nat. Immunol. 2015 Sep 18. 16(10) 1001-4
PhenomeCentral: A portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Buske OJ et al. Hum. Mutat. 2015 Oct 36(10) 931-40
Buske OJ et al. Hum. Mutat. 2015 Oct 36(10) 931-40
Precision medicine initiative boosts funding for NCI efforts: Proposal would help broaden availability of targeted therapies.
Printz C et al. Cancer 2015 Oct 1. 121(19) 3369-70
Printz C et al. Cancer 2015 Oct 1. 121(19) 3369-70
The Precision Medicine Initiative Cohort Program – Building a research foundation for 21st century medicine [PDF 2.24 MB],
Precision Medicine Initiative (PMI) Working Group Report to the Advisory Committee to the Director, NIH, September 17, 2015
Precision Medicine Initiative (PMI) Working Group Report to the Advisory Committee to the Director, NIH, September 17, 2015
NIH unveils precision medicine, genomics, big data analytics plan, by Jennifer Bresnick, Health IT Analytics, September 21, 2015
To (genetic) test or not to test, that is the question.
Mushlin AI et al. J Comp Eff Res 2015 Sep 21.
Mushlin AI et al. J Comp Eff Res 2015 Sep 21.
Reproductive Health
Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study.
Hayeems RZ et al. CMAJ Open 3(2) E236-43
Hayeems RZ et al. CMAJ Open 3(2) E236-43
Reviews, News and Commentaries
FDA: The steps we’re taking to push precision medicine forward, by Meghana Keshavan, Med City News, September 23, 2015
Dr. Henry T. Lynch Symposium: Advances in hereditary cancer — summary by G, I have Lynch Syndrome, September 22, 2015
Who knows what it means, Genome Web, September 21, 2015 [by subscription only]
87-year-old Creighton University doctor finds motivation in tracking cancer families, by Rick Ruggles, Omaha.com, September 20, 2015
Genomics will redraw the rare disease map: The "Rarity Catch-22", CVID, Primary Immune and Rare Disease Blog, September 19, 2015
NIH moves forward on genetic database while hoping for funding, iHealthBeat, September 18, 2015
Enthusiasm for personalized cancer drugs runs ahead of the science, by Asher Mullard, Nature News, September 17, 2015
For some children with cancer, genomic information may help guide treatment decisions, Cancer Currents Blog, NCI, September 17, 2015
Is fish oil good for you? Depends on your DNA, by Elizabeth Pennisi, Science News, September 17, 2015
Cure for sickle cell in adults validated, Science Daily, September 16, 2015
Pres. Obama's precision medicine initiative, the human genome project, and your individualized genetic data, by Samantha Olson, Medical Daily, September 16, 2015
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