Published on 08/12/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Changing incidence of cystic fibrosis in Wisconsin, USA.
Parker-McGill Katelyn et al. Pediatr. Pulmonol. 2015 Aug 10. -
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne Jenifer et al. Am. J. Med. Genet. A 2015 Aug 6. -
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
Jaeken Jaak et al. Eur. J. Hum. Genet. 2015 Aug 5.
Cancer
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Personalized medicine and economic evaluation in oncology: all theory and no practice?
Garattini Livio et al. Expert Rev Pharmacoecon Outcomes Res 2015 Aug 9. 1-6 -
Incidence and Mortality of Colorectal Cancer in Individuals with a Family History of Colorectal Cancer.
Schoen Robert E et al. Gastroenterology 2015 Aug 5. -
Exploration of Male Attitudes on Partnerships and Sexuality with Female BRCA1/2 Mutation Carriers.
Mauer Caitlin et al. J Genet Couns 2015 Aug 8. -
The current state of cancer genetic counseling access and availability.
Knapke Sara et al. Genet. Med. 2015 Aug 6. -
No Detrimental Effect of a Positive Family History on Long-Term Outcomes Following Radical Prostatectomy.
Brath Johannes M S et al. J. Urol. 2015 Jul 31. -
Derivation and Validation of a Scoring System to Stratify Risk for Advanced Colorectal Neoplasia in Asymptomatic Adults: A Cross-sectional Study.
Imperiale Thomas F et al. Ann. Intern. Med. 2015 Aug 11. -
Population Landscape of Familial Cancer.
Frank C et al. Sci Rep 2015 512891
Chronic Disease
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A Systematic Review and Narrative Synthesis of Health Economic Studies Conducted for Hereditary Haemochromatosis.
de Graaff Barbara et al. Appl Health Econ Health Policy 2015 Aug 9. -
Can patients be accurately assessed for familial hypercholesterolaemia in primary care?
Bell Damon A et al. Heart Lung Circ 2014 Dec 23(12) 1153-7
Ethics/Policy/Law
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Return of genetic testing results in the era of whole-genome sequencing.
Knoppers Bartha Maria et al. Nat. Rev. Genet. 2015 Aug 4. -
Chloe's Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing.
Caplan Arthur L et al. PLoS Biol. 2015 Aug 13(8) e1002219
Practice
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Medical genetics and genomic medicine in Chile: opportunities for improvement.
Castillo Taucher Silvia et al. Mol Genet Genomic Med 2015 Jul 3(4) 243-7 -
Anticipation of Personal Genomics Data Enhances Interest and Learning Environment in Genomics and Molecular Biology Undergraduate Courses.
Weber K Scott et al. PLoS ONE 2015 10(8) e0133486 -
Emergency medical genomes: a breakthrough application of precision medicine.
Kingsmore Stephen F et al. Genome Med 2015 7(1) 82 -
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong Jessica X et al. Am. J. Hum. Genet. 2015 Aug 6. 97(2) 199-215 -
Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.
Wynn Julia et al. J Genet Couns 2015 Aug 5.
Newborn Screening
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An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782
Pharmacogenomics
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Cost-effectiveness of combinatorial pharmacogenomic testing for treatment-resistant major depressive disorder patients.
Hornberger John et al. Am J Manag Care 2015 21(6) e357-65 -
Cost-effectiveness analysis of pharmacogenetic-guided warfarin dosing in Thailand.
Chong Huey Yi et al. Thromb. Res. 2014 Dec 134(6) 1278-84
Reproductive Health
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Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.
Viuff Mette Hansen et al. Hum. Reprod. 2015 Aug 6. -
It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.
Wilfond Benjamin S et al. Mol Genet Genomic Med 2015 Jul 3(4) 239-42 -
Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.
Sachs Amy et al. Prenat. Diagn. 2015 Aug 5.
Tools/Databases
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SpeedSeq: ultra-fast personal genome analysis and interpretation.
Chiang Colby et al. Nat. Methods 2015 Aug 10.
News/ Reviews/Comments
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Enthusiasm for personalized medicine is premature, prominent public health scholars argue,
Medical News Today, Aug 6, 2015 -
NEJM perspective: Focus on precision medicine distracting from efforts seeking healthier population,
Genome Web, Aug 6, 2015 [by free subscription only] -
The Angelina effect and the mixed blessing of celebrities and risk awareness,
by Hilda Bastian, PLoS Blogs, Aug 9, 2015 -
NIH launches website for new genomic data sharing policy,
Genome Web, Aug 10, 2015 [by free subscription only] -
Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions,
by Steven Benowitz, NHGRI, Aug 7, 2015 -
New method improves detection of causal genes,
by Rebecca Burbidge, PHG Foundation, Aug 11, 2015 -
Show Us What Your Genes Can Do, Teen Genes Video Challenge,
The American Society of Human Genetics, Aug 12, 2015 -
Obesity gene? Gene discovered that could be an important cause of obesity,
Science Daily, Aug 10, 2015 -
How many diseases does it take to map a SNP? Fifteen years on,
by Anne Buchanan, the Mermaid's Tale, Aug 9, 2015 -
Autism mutation isolated  could be treated with specific enzyme,
by Seth Augenstein, Bioscience Technology, Aug 7, 2015 -
Looking at Beijing's skyline.
Jamrozy Dorota, et al. Nature reviews. Microbiology 2015 9 0. (9) 528
Funding
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CDC earmarks $2.3M for NGS, bioinformatic approaches to combat infectious disease,
Genome Web, Aug 7, 2015 [by free subscription only]