Volume 34 Number 6 February 12-19, 2015
Birth Defects and Child Health
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.
Jaeken Jaak, et al. Eur. J. Hum. Genet. 2015 Feb 4 .
Jaeken Jaak, et al. Eur. J. Hum. Genet. 2015 Feb 4 .
Cancer
Development of the Informing Relatives Inventory (IRI): Assessing index patients' knowledge, motivation and self-efficacy regarding the disclosure of hereditary cancer risk information to relatives.
de Geus Eveline, et al. Int J Behav Med 2014 Dec 17.
de Geus Eveline, et al. Int J Behav Med 2014 Dec 17.
External quality assessment unravels interlaboratory differences in quality of RAS testing for anti-EGFR therapy in colorectal cancer.
Tack Véronique, et al. Oncologist 2015 Feb 5.
Tack Véronique, et al. Oncologist 2015 Feb 5.
Improving recognition and referral of patients with an increased familial risk of colorectal cancer: results from a randomised controlled trial.
Dekker Nicky, et al. Colorectal Dis 2014 Dec 19.
Dekker Nicky, et al. Colorectal Dis 2014 Dec 19.
Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey.
Barrow P, et al. Clin Genet. 2015 Feb 4.
Barrow P, et al. Clin Genet. 2015 Feb 4.
Oncotype DX in women and men with ER-positive, HER2-negative early stage breast cancer who are lymph node negative: A review of clinical effectiveness and guidelines
Ottawa (ON):Canadian Agency for Drugs and Technologies in Health 2014 Feb 20.
Ottawa (ON):Canadian Agency for Drugs and Technologies in Health 2014 Feb 20.
PCA3 in prostate cancer and tumor aggressiveness detection on 407 high-risk patients: a National Cancer Institute experience.
Merola Roberta, et al. J. Exp. Clin. Cancer Res. 2015 Feb 6 34 (1): 15.
Merola Roberta, et al. J. Exp. Clin. Cancer Res. 2015 Feb 6 34 (1): 15.
The impact of stratifying by family history in colorectal cancer screening programs.
Goede S Lucas, et al. Int. J. Cancer 2015 Feb 6.
Goede S Lucas, et al. Int. J. Cancer 2015 Feb 6.
Chronic Diseases
A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.
Otten Ellen, et al. Eur. J. Hum. Genet. 2015 Feb 4.
Otten Ellen, et al. Eur. J. Hum. Genet. 2015 Feb 4.
Abdominal aortic diameter is increased in males with a family history of abdominal aortic aneurysms: results from the Danish VIVA-trial.
Joergensen T M M, et al. Eur J Vasc Endovasc Surg 2014 Dec 48 (6): 669-75.
Joergensen T M M, et al. Eur J Vasc Endovasc Surg 2014 Dec 48 (6): 669-75.
Association between Family History Risk Categories and Prevalence of Diabetes in Chinese Population.
Zhang Jinping, et al. PLoS ONE 2015 10 (2): e0117044.
Zhang Jinping, et al. PLoS ONE 2015 10 (2): e0117044.
Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome
Hirschtritt ME, et al. JAMA Psychiatry 2015 Feb 11
Hirschtritt ME, et al. JAMA Psychiatry 2015 Feb 11
Familial hypercholesterolemia: Underdiagnosed, risks underappreciated; new treatments on horizon, Cardiology Today, February 2015
Cardiology Today, February 2015Ethics, Policy and Law
Ethical challenges of big data in public health. [PDF 131.96 KB]
Effy Vayena et al. PLOS Computational Biology, February 2015
Effy Vayena et al. PLOS Computational Biology, February 2015
Ethical issues in genetics and public health in Latin America with a focus on Argentina.
Penchaszadeh Victor B, et al. J Community Genet 2015 Feb 10.
Penchaszadeh Victor B, et al. J Community Genet 2015 Feb 10.
Genomics in Practice
Focus group discussions on secondary variants and next-generation sequencing technologies.
Christenhusz Gabrielle M, et al. Eur J Med Genet 2015 Feb 3.
Christenhusz Gabrielle M, et al. Eur J Med Genet 2015 Feb 3.
Is there a space for place in family history assessment? Underserved community views on the impact of neighborhood factors on health and prevention.
Hartmann Christopher D, et al. J Prim Prev 2015 Feb 7.
Hartmann Christopher D, et al. J Prim Prev 2015 Feb 7.
Next generation DNA sequencing: A review of the cost effectiveness and guidelines
Ottawa (ON):Canadian Agency for Drugs and Technologies in Health 2014 Feb 6.
Ottawa (ON):Canadian Agency for Drugs and Technologies in Health 2014 Feb 6.
Newborn Screening
Neonatal screening for sickle cell disease and other hemoglobinopathies in "the changing Europe".
Rolla Roberta, et al. Clin. Lab. 2014 60 (12): 2089-93.
Rolla Roberta, et al. Clin. Lab. 2014 60 (12): 2089-93.
Reproductive Health
Policy statement on preconception carrier screening, by Dr. Philippa Brice, PHG Foundation, Feb 10
by Dr. Philippa Brice, PHG Foundation, Feb 10Expanded carrier screening in reproductive medicine: New joint statement is released in ACOG’s Obstetrics & Gynecology, Newswise, Feb 6
Newswise, Feb 6Expanded carrier screening in reproductive medicine: New joint statement is released in ACOG's Obstetrics & Gynecology, 
[PDF 1.31 MB] American College of Medical Genetics and Genomics, Feb 5
[PDF 1.31 MB] American College of Medical Genetics and Genomics, Feb 5Non-invasive prenatal testing: A review of the cost effectiveness and guidelines
Ottawa (ON):Canadian Agency for Drugs and Technologies in Health 2014 Feb 10.
Ottawa (ON):Canadian Agency for Drugs and Technologies in Health 2014 Feb 10.
Reviews, News and Commentaries
Fresh from the biotech pipeline—2014
Chris Morrison Nature Biotechnology 2015; 33:125-128
Chris Morrison Nature Biotechnology 2015; 33:125-128
Work that matters: Toward consequential environmental epidemiology
Frumkin, Howard, Epidemiology, March, 2015
Frumkin, Howard, Epidemiology, March, 2015
Patients and genomics: dual drivers of health system change? PHG Foundation, Feb 11
PHG Foundation, Feb 11Head and neck cancer: Building the evidence base for precision oncology, by Dr. Francis Collins, NIH Director’s Blog, Feb 10
by Dr. Francis Collins, NIH Director’s Blog, Feb 10Policy statement on preconception carrier screening, PHG Foundation, Feb 10
PHG Foundation, Feb 10The genome war, round two, by Reid J. Robison, Precision Medicine, Feb 10
, by Reid J. Robison, Precision Medicine, Feb 10A never-ending genetic quest. Mary-Claire King’s pioneering gene work, from breast cancer to human rights, New York Times, Feb 9
New York Times, Feb 9Why precision medicine will not create a medical revolution, by Michael White, Pacific Standard, Feb 9
by Michael White, Pacific Standard, Feb 9Articles of the week: human genetics to assess on-target adverse drug events, by Robert Plenge, Plenege Gen Blog, Feb 7
by Robert Plenge, Plenege Gen Blog, Feb 7Medicine just for you, by the Editorial Board, New York Times, Feb 7
by the Editorial Board, New York Times, Feb 7Genetic screening deemed cost-effective in non–small cell lung cancer, The ASCO Post, Feb 6
The ASCO Post, Feb 6Will the President's plan move precision medicine beyond the hype? By Turna Ray, Genome Web, Feb 6 [by free subscription only]
By Turna Ray, Genome Web, Feb 6 [by free subscription only]Doctor, have you had your DNA tested? By Robert Klitzman, M.D. , New York Times, Feb 5
By Robert Klitzman, M.D. , New York Times, Feb 5Launch of new genomics initiative draws enthusiastic industry, academic partners, UC Berkeley News Center, Feb 5
UC Berkeley News Center, Feb 5Populations, individuals and imprecise disease prediction, by Ann Buchanan, Mermaid Tale Blog, Feb 5
by Ann Buchanan, Mermaid Tale Blog, Feb 5The problem with precision medicine, by Cynthia Graber , New Yorker, Feb 5
by Cynthia Graber , New Yorker, Feb 5Exploring genomic causal 'precision', by Ken Weiss , Mermaid Tale Blog, Feb 4
by Ken Weiss , Mermaid Tale Blog, Feb 4Tools and Databases
MedGen: NCBI Online Portal for Medical Genetics. Links various information on diseases, tests, guidelines and consumer resources
NCBI Online Portal for Medical Genetics. Links various information on diseases, tests, guidelines and consumer resources 
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