Volume 34 Number 23 June 11-18, 2015
Birth Defects and Child Health
High acceptance of an early dyslexia screening test involving genetic analyses in Germany.
Wilcke A et al. Eur. J. Hum. Genet. 2015 Jun 3.
Wilcke A et al. Eur. J. Hum. Genet. 2015 Jun 3.
Perspectives in genetics and sickle cell disease prevention in Africa: Beyond the preliminary data from Cameroon.
Wonkam A et al. Public Health Genomics 2015 Jun 4.
Wonkam A et al. Public Health Genomics 2015 Jun 4.
The impact of parental history on children's risk of asthma: a study based on the National Health and Nutrition Examination Survey-III.
Xu R et al. J Asthma Allergy 2015 851-61
Xu R et al. J Asthma Allergy 2015 851-61
Cancer
Completeness of pedigree and family cancer history for ovarian cancer patients.
Son Y et al. J Gynecol Oncol 2014 Oct 25(4) 342-8
Son Y et al. J Gynecol Oncol 2014 Oct 25(4) 342-8
Predicting the pathogenic potential of BRCA1 and BRCA2 gene variants identified in clinical genetic testing.
Brookes C et al. Sultan Qaboos Univ Med J 2015 May 15(2) e218-25
Brookes C et al. Sultan Qaboos Univ Med J 2015 May 15(2) e218-25
Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment.
Veldwijk J et al. Eur. J. Hum. Genet. 2015 Jun 3.
Veldwijk J et al. Eur. J. Hum. Genet. 2015 Jun 3.
The importance of biobanking in cancer research.
Castillo-Pelayo T et al. Biopreserv Biobank 2015 Jun 13(3) 172-7
Castillo-Pelayo T et al. Biopreserv Biobank 2015 Jun 13(3) 172-7
Universal tumor screening for Lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers.
Hunter JE et al. Cancer 2015 Jun 2.
Hunter JE et al. Cancer 2015 Jun 2.
Variation in contralateral prophylactic mastectomy rates according to racial groups in young women with breast cancer, 1998 to 2011: A report from the National Cancer Data Base.
Grimmer L et al. J. Am. Coll. Surg. 2015 Apr 23.
Grimmer L et al. J. Am. Coll. Surg. 2015 Apr 23.
Chronic Diseases
Familial hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association guidelines: Myths, oversimplification, and misinterpretation versus facts.
Knowles JW et al. Am. J. Cardiol. 2015 May 9.
Knowles JW et al. Am. J. Cardiol. 2015 May 9.
Ethics, Policy and Law
FDA's draft guidance on laboratory-developed tests increases clinical and economic risk to adoption of pharmacogenetic testing.
Levy KD et al. J Clin Pharmacol 2015 Jul 55(7) 725-7
Levy KD et al. J Clin Pharmacol 2015 Jul 55(7) 725-7
New consent requirements for newborn screening raise concerns.
Yan W et al. Nat. Med. 2015 Jun 4. 21(6) 542-3
Yan W et al. Nat. Med. 2015 Jun 4. 21(6) 542-3
Parental consent for the use of residual newborn screening bloodspots: Respecting individual liberty vs ensuring public health.
Bayefsky MJ et al. JAMA 2015 Jun 8.
Bayefsky MJ et al. JAMA 2015 Jun 8.
Why the Americans with Disabilities Act matters for genetics.
Clayton EW et al. JAMA 2015 Jun 9. 313(22) 2225-6
Clayton EW et al. JAMA 2015 Jun 9. 313(22) 2225-6
Genomics in Practice
23andWe. How can doctors decode direct-to-consumer genetic testing?
Pritchard M et al. Pharos Alpha Omega Alpha Honor Med Soc 2015 78(2) 16-21
Pritchard M et al. Pharos Alpha Omega Alpha Honor Med Soc 2015 78(2) 16-21
A comparison of telephone genetic counseling and in-person genetic counseling from the genetic counselor's perspective.
Burgess KR et al. J Genet Couns 2015 Jun 6.
Burgess KR et al. J Genet Couns 2015 Jun 6.
Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers.
Mavroidopoulou Vi et al. J. Hum. Genet. 2015 Jun 4.
Mavroidopoulou Vi et al. J. Hum. Genet. 2015 Jun 4.
Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.
Ashton-Prolla P et al. J Community Genet 2015 Jun 4.
Ashton-Prolla P et al. J Community Genet 2015 Jun 4.
Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe.
Malentacchi F et al. Drug Metabol Personal Ther 2015 Jun 1. 30(2) 121-8
Malentacchi F et al. Drug Metabol Personal Ther 2015 Jun 1. 30(2) 121-8
Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.
Sanderson SC et al. Eur. J. Hum. Genet. 2015 Jun 3.
Sanderson SC et al. Eur. J. Hum. Genet. 2015 Jun 3.
Stakeholder analysis in pharmacogenomics and genomic medicine in Greece.
Mitropoulou C et al. Public Health Genomics 2014 17(5-6) 280-6
Mitropoulou C et al. Public Health Genomics 2014 17(5-6) 280-6
The science, applications, and ethical concerns surrounding low copy number DNA analysis.
Schulz R et al. Genet Test Mol Biomarkers 2015 Jun 19(6) 281-2
Schulz R et al. Genet Test Mol Biomarkers 2015 Jun 19(6) 281-2
Towards a European consensus for reporting incidental findings during clinical NGS testing.
Hehir-Kwa JY et al. Eur. J. Hum. Genet. 2015 Jun 3.
Hehir-Kwa JY et al. Eur. J. Hum. Genet. 2015 Jun 3.
Pharmacogenomics
Clinical implementation of cardiovascular pharmacogenomics.
Pereira NL et al. Mayo Clin. Proc. 2015 Jun 90(6) 701-4
Pereira NL et al. Mayo Clin. Proc. 2015 Jun 90(6) 701-4
Development of a pharmacogenetic-based warfarin dosing algorithm and its performance in Brazilian patients: highlighting the importance of population-specific calibration.
Santos PC et al. Pharmacogenomics 2015 Jun 8. 1-12
Santos PC et al. Pharmacogenomics 2015 Jun 8. 1-12
DruGeVar: an online resource triangulating drugs with genes and genomic biomarkers for clinical pharmacogenomics.
Dalabira E et al. Public Health Genomics 2014 17(5-6) 265-71
Dalabira E et al. Public Health Genomics 2014 17(5-6) 265-71
"Getting off the bus closer to your destination": patients' views about pharmacogenetic testing.
Trinidad SB et al. Perm J 2015 Jun 1.
Trinidad SB et al. Perm J 2015 Jun 1.
Reproductive Health
Exploring the effectiveness of mandatory premarital screening and genetic counselling programmes for ß-thalassaemia in the Middle East: A scoping review.
Saffi M et al. Public Health Genomics 2015 May 29.
Saffi M et al. Public Health Genomics 2015 May 29.
Preconception counseling: do patients learn about genetics from their obstetrician gynecologists?
Mandelberger AH et al. J. Assist. Reprod. Genet. 2015 Jun 9.
Mandelberger AH et al. J. Assist. Reprod. Genet. 2015 Jun 9.
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus.
Buchanan JA et al. J. Med. Genet. 2015 Jun 3.
Buchanan JA et al. J. Med. Genet. 2015 Jun 3.
Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing
Amant F, et al. JAMA Oncol. 2015 June 5
Amant F, et al. JAMA Oncol. 2015 June 5
Reprogenetics, genetic tools and reproductive risk: Attitudes and understanding among ethnic groups in Israel.
Simonstein F et al. J Genet Couns 2015 Jun 9.
Simonstein F et al. J Genet Couns 2015 Jun 9.
State-offered ethnically targeted reproductive genetic testing.
Clayton ElW et al. Genet. Med. 2015 Jun 4.
Clayton ElW et al. Genet. Med. 2015 Jun 4.
The Israeli national population program of genetic carrier screening for reproductive purposes.
Zlotogora Jl et al. Genet. Med. 2015 Apr 16.
Zlotogora Jl et al. Genet. Med. 2015 Apr 16.
Reviews, News and Commentaries
The coming era of human phenotyping.
Nat. Biotechnol. 2015 Jun 9. 33(6) 567
Nat. Biotechnol. 2015 Jun 9. 33(6) 567
There's still a lot we don't know about the new cholesterol-lowering drugs, by Julia Belluz, Vox, June 11
by Julia Belluz, Vox, June 11A new way to treat high cholesterol? By Matt Sloane, Web MD, June 10
By Matt Sloane, Web MD, June 10New, potent cholesterol-lowering drug gets FDA advisory approval, by Carina Storrs, CNN, June 10
by Carina Storrs, CNN, June 10Panel tells F.D.A. to back second drug to help heart, by Gina Kolata, New York Times, June 10
by Gina Kolata, New York Times, June 10A surprising match: Cancer immunotherapy and mismatch repair, by Francis Collins, NIH Director?s Blog, June 9
by Francis Collins, NIH Director?s Blog, June 9Federal panel backs approval of new drug to fight heart attacks, by Gina Kolata, New York Times, June 9
by Gina Kolata, New York Times, June 9Genetic test for 'familial' heart risk extended, BBC, June 9
BBC, June 9Something interesting is happening, NIMH Director's Blog, June 9
NIMH Director's Blog, June 9Irreproducible biology research costs put at $28 billion per year, by Monya Baker, Nature News, June 9
by Monya Baker, Nature News, June 9In the future, treatments tailored to patients, by Robert Weisman, Boston Globe, June 6
by Robert Weisman, Boston Globe, June 6Why do healthy people have harmful mutations? By Ricki Lewis, PLOS Blogs, June 4
By Ricki Lewis, PLOS Blogs, June 4Tools and Databases
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.
Hoehndorf R et al. Sci Rep 2015 510888
Hoehndorf R et al. Sci Rep 2015 510888
GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes.
Eleftheriou SV et al. Database (Oxford) 2015 2015
Eleftheriou SV et al. Database (Oxford) 2015 2015
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