Published on 06/11/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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The impact of parental history on children's risk of asthma: a study based on the National Health and Nutrition Examination Survey-III.
Xu Rengyi et al. J Asthma Allergy 2015 851-61 -
Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon.
Wonkam Ambroise et al. Public Health Genomics 2015 Jun 4. -
High acceptance of an early dyslexia screening test involving genetic analyses in Germany.
Wilcke Arndt et al. Eur. J. Hum. Genet. 2015 Jun 3.
Cancer
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Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing.
Brookes Clare et al. Sultan Qaboos Univ Med J 2015 May 15(2) e218-25 -
Delivering precision medicine in oncology today and in future-the promise and challenges of personalised cancer medicine: a position paper by the European Society for Medical Oncology (ESMO).
Ciardiello F et al. Ann. Oncol. 2014 Sep 25(9) 1673-8 -
Completeness of pedigree and family cancer history for ovarian cancer patients.
Son Yedong et al. J Gynecol Oncol 2014 Oct 25(4) 342-8 -
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 Laura et al. J. Am. Coll. Surg. 2015 Apr 23. -
Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment.
Veldwijk Jorien et al. Eur. J. Hum. Genet. 2015 Jun 3. -
Universal tumor screening for lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers.
Hunter Jessica Ezzell et al. Cancer 2015 Jun 2. -
The importance of biobanking in cancer research.
Castillo-Pelayo Tania et al. Biopreserv Biobank 2015 Jun 13(3) 172-7
Chronic Disease
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Familial Hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association Guidelines: Myths, Oversimplification, and Misinterpretation Versus Facts.
Knowles Joshua W et al. Am. J. Cardiol. 2015 May 9.
Ethics/Policy/Law
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FDA's draft guidance on laboratory-developed tests increases clinical and economic risk to adoption of pharmacogenetic testing.
Levy Kenneth D et al. J Clin Pharmacol 2015 Jul 55(7) 725-7 -
Why the Americans with Disabilities Act Matters for genetics.
Clayton Ellen Wright et al. JAMA 2015 Jun 9. 313(22) 2225-6 -
New consent requirements for newborn screening raise concerns.
Yan Wudan 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 Michelle J et al. JAMA 2015 Jun 8.
Practice
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Stakeholder analysis in pharmacogenomics and genomic medicine in Greece.
Mitropoulou Christina et al. Public Health Genomics 2014 17(5-6) 280-6 -
A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.
Burgess Kelly R et al. J Genet Couns 2015 Jun 6. -
23andWe. How can doctors decode direct-to-consumer genetic testing?
Pritchard Melissa et al. Pharos Alpha Omega Alpha Honor Med Soc 2015 78(2) 16-21 -
Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers.
Mavroidopoulou Vasiliki 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 Patrícia et al. J Community Genet 2015 Jun 4. -
Towards a European consensus for reporting incidental findings during clinical NGS testing.
Hehir-Kwa Jayne Y et al. Eur. J. Hum. Genet. 2015 Jun 3. -
Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.
Sanderson Saskia C et al. Eur. J. Hum. Genet. 2015 Jun 3. -
The Science, Applications, and Ethical Concerns Surrounding Low Copy Number DNA Analysis.
Schulz Rebecca et al. Genet Test Mol Biomarkers 2015 Jun 19(6) 281-2
Pharmacogenomics
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Development of a pharmacogenetic-based warfarin dosing algorithm and its performance in Brazilian patients: highlighting the importance of population-specific calibration.
Santos Paulo Caleb Junior Lima et al. Pharmacogenomics 2015 Jun 8. 1-12 -
"Getting off the Bus Closer to Your Destination": Patients' Views about Pharmacogenetic Testing.
Trinidad Susan Brown et al. Perm J 2015 Jun 1. -
DruGeVar: an online resource triangulating drugs with genes and genomic biomarkers for clinical pharmacogenomics.
Dalabira Eleni et al. Public Health Genomics 2014 17(5-6) 265-71 -
Clinical Implementation of Cardiovascular Pharmacogenomics.
Pereira Naveen L et al. Mayo Clin. Proc. 2015 Jun 90(6) 701-4
Reproductive Health
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The Israeli national population program of genetic carrier screening for reproductive purposes.
Zlotogora J et al. Genet. Med. 2015 Apr 16. -
Reprogenetics, Genetic Tools and Reproductive Risk: Attitudes and Understanding Among Ethnic Groups in Israel.
Simonstein Frida et al. J Genet Couns 2015 Jun 9. -
Preconception counseling: do patients learn about genetics from their obstetrician gynecologists?
Mandelberger Adrienne H et al. J. Assist. Reprod. Genet. 2015 Jun 9. -
Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.
Amant Frédéric, et al. JAMA oncology 2015 9 0. (6) 814-9 -
Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for ß-Thalassaemia in the Middle East: A Scoping Review.
Saffi Marwa et al. Public Health Genomics 2015 May 29. -
State-offered ethnically targeted reproductive genetic testing.
Clayton Ellen Wright et al. Genet. Med. 2015 Jun 4. -
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus.
Buchanan Janet A et al. J. Med. Genet. 2015 Jun 3.
Tools/Databases
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GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes.
Eleftheriou Stergiani V et al. Database (Oxford) 2015 2015 -
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.
Hoehndorf Robert et al. Sci Rep 2015 510888
News/ Reviews/Comments
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Panel Tells F.D.A. to Back Second Drug to Help Heart,
by Gina Kolata, New York Times, June 10 -
A new way to treat high cholesterol?
By Matt Sloane, Web MD, June 10 -
In the future, treatments tailored to patients,
by Robert Weisman, Boston Globe, June 6 -
A surprising match: Cancer immunotherapy and mismatch repair,
by Francis Collins, NIH Director?s Blog, June 9 -
Irreproducible biology research costs put at $28 billion per year,
by Monya Baker, Nature News, June 9 -
The coming era of human phenotyping.
et al. Nat. Biotechnol. 2015 Jun 9. 33(6) 567 -
Why do healthy people have harmful mutations?
By Ricki Lewis, PLOS Blogs, June 4 -
Something interesting is happening,
NIMH Director's Blog, June 9 -
New, potent cholesterol-lowering drug gets FDA advisory approval,
by Carina Storrs, CNN, June 10 -
Federal panel backs approval of new drug to fight heart attacks,
by Gina Kolata, New York Times, June 9 -
There's still a lot we don't know about the new cholesterol-lowering drugs,
by Julia Belluz, Vox, June 11 -
Genetic test for 'familial' heart risk extended,
BBC, June 9