Volume 34 Number 19 May 14-21, 2015
Human Genomics across the Lifespan
Cancer
BRCAPRO 6.0 model validation in male patients presenting for BRCA testing.
Mitri ZI et al. Oncologist 2015 May 6.
Mitri ZI et al. Oncologist 2015 May 6.
Childhood cancers in families with and without Lynch syndrome.
Heath JA et al. Fam. Cancer 2015 May 12.
Heath JA et al. Fam. Cancer 2015 May 12.
Derivation of a bronchial genomic classifier for lung cancer in a prospective study of patients undergoing diagnostic bronchoscopy.
Whitney DH et al. BMC Med Genomics 2015 May 6. 8(1) 18
Whitney DH et al. BMC Med Genomics 2015 May 6. 8(1) 18
Evaluation and comparison of two commercially available targeted next-generation sequencing platforms to assist oncology decision making.
Weiss GJ et al. Onco Targets Ther 2015 8959-67
Weiss GJ et al. Onco Targets Ther 2015 8959-67
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).
Vasen HF et al. J. Med. Genet. 2014 May 51(5) 283-93
Vasen HF et al. J. Med. Genet. 2014 May 51(5) 283-93
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: A cost-effectiveness analysis.
Gallego CJ, et al. J Clin Oncol. 2015 May 4. pii: JCO.2014.59.3665.
Gallego CJ, et al. J Clin Oncol. 2015 May 4. pii: JCO.2014.59.3665.
RAS testing in metastatic colorectal cancer: excellent reproducibility amongst 17 Dutch pathology centers.
Boleij A et al. Oncotarget 2015 Apr 12.
Boleij A et al. Oncotarget 2015 Apr 12.
[Recommendation for genetic testing in patients suffering from gynecological malignancy].
Zikán M et al. Ceska Gynekol 2015 80(2) 97-103
Zikán M et al. Ceska Gynekol 2015 80(2) 97-103
Screening for breast cancer by molecular testing for three founder mutations in the BRCA1 and BRCA2 genes among women of Ashkenazi Jewish heritage.
Palomaki GE et al. J Med Screen 2015 May 5.
Palomaki GE et al. J Med Screen 2015 May 5.
Survival in familial colorectal cancer: a Danish cohort study.
Lautrup CK et al. Fam. Cancer 2015 May 12.
Lautrup CK et al. Fam. Cancer 2015 May 12.
Understanding breast cancer subtypes, by Laura Martin, Cure Today, May 12
by Laura Martin, Cure Today, May 12FDA approves Roche KRAS mutation test for metastatic colorectal cancer patients, Genome Web, May 11 [by free subscription only]
Genome Web, May 11 [by free subscription only] MicroRNA and cancer therapeutics, by Alexa Lim, Science Friday, May 8
by Alexa Lim, Science Friday, May 8Chronic Diseases
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al. Am. J. Med. Genet. A 2015 May 5.
Wooderchak-Donahue W et al. Am. J. Med. Genet. A 2015 May 5.
Early initiation of statin treatment in children with familial hypercholesterolaemia.
Braamskamp MJ et al. Curr. Opin. Lipidol. 2015 Jun 26(3) 236-9
Braamskamp MJ et al. Curr. Opin. Lipidol. 2015 Jun 26(3) 236-9
General practitioners' knowledge and use of genetic counselling in managing patients with genetic cardiac disease in non-specialised settings.
Marathe JA et al. J Community Genet 2015 May 12.
Marathe JA et al. J Community Genet 2015 May 12.
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Han SM et al. PLoS ONE 2015 10(5) e0126706
Han SM et al. PLoS ONE 2015 10(5) e0126706
Incremental predictive value of 152 single nucleotide polymorphisms in the 10-year risk prediction of incident coronary heart disease: the Rotterdam Study.
de Vries PS, et al. Int J Epidemiol. 2015 May 6. pii: dyv070.
de Vries PS, et al. Int J Epidemiol. 2015 May 6. pii: dyv070.
Predicting sudden cardiac death using common genetic risk variants for coronary artery disease.
Hernesniemi JA et al. Eur. Heart J. 2015 Apr 23.
Hernesniemi JA et al. Eur. Heart J. 2015 Apr 23.
CAD genetic risk helps predict SCD
Duarte J. Nature Reviews Cardiology (2015)
Duarte J. Nature Reviews Cardiology (2015)
PsyGeNET: a knowledge platform on psychiatric disorders and their genes.
Gutiérrez-Sacristán A et al. Bioinformatics 2015 May 11.
Gutiérrez-Sacristán A et al. Bioinformatics 2015 May 11.
Ethics, Policy and Law
Managing the ethical issues of genomic research using pathology specimens.
Zeps N et al. Clin Biochem Rev 2015 Feb 36(1) 21-7
Zeps N et al. Clin Biochem Rev 2015 Feb 36(1) 21-7
Genomics in Practice
Aligning incentives to fulfil the promise of personalised medicine.
Dzau VJ et al. Lancet 2015 May 6.
Dzau VJ et al. Lancet 2015 May 6.
How to know when physicians are ready for genomic medicine
Vassy JL, et al. Sci Transl Med 13 May 2015
Vassy JL, et al. Sci Transl Med 13 May 2015
Prompting primary care providers about increased patient risk as a result of family history: Does it work?
Zazove P et al. J Am Board Fam Med 28(3) 334-42
Zazove P et al. J Am Board Fam Med 28(3) 334-42
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K et al. J. Med. Genet. 2015 May 7.
Boycott K et al. J. Med. Genet. 2015 May 7.
The predictive power of family history measures of alcohol and drug problems and internalizing disorders in a college population.
Kendler KS et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2015 May 6.
Kendler KS et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2015 May 6.
Technical guide for applications of gene expression profiling in human health risk assessment of environmental chemicals.
Bourdon-Lacombe JA et al. Regul. Toxicol. Pharmacol. 2015 May 2.
Bourdon-Lacombe JA et al. Regul. Toxicol. Pharmacol. 2015 May 2.
Newborn Screening
Inconclusive diagnosis of cystic fibrosis after newborn screening.
Ooi CY et al. Pediatrics 2015 May 11.
Ooi CY et al. Pediatrics 2015 May 11.
Pharmacogenomics
Making pharmacogenomic-based prescribing alerts more effective: A scenario-based pilot study with physicians.
Overby CL et al. J Biomed Inform 2015 May 7.
Overby CL et al. J Biomed Inform 2015 May 7.
Pharmacogenetics and the print media: what is the public told?
Almomani B et al. BMC Med. Genet. 2015 May 9. 16(1) 32
Almomani B et al. BMC Med. Genet. 2015 May 9. 16(1) 32
Returning pharmacogenetic secondary findings from genome sequencing: let's not put the cart before the horse.
Janssens ACW et al. Genet. Med. 2015 May 7.
Janssens ACW et al. Genet. Med. 2015 May 7.
Reproductive Health
Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population.
Li Wai-Hou et al. Taiwan J Obstet Gynecol 2015 Apr 54(2) 122-5
Li Wai-Hou et al. Taiwan J Obstet Gynecol 2015 Apr 54(2) 122-5
Prenatal screening for aneuploidies using QF-PCR and karyotyping: A comprehensive study in Iranian population.
Rostami P et al. Arch Iran Med 2015 May 18(5) 296-303
Rostami P et al. Arch Iran Med 2015 May 18(5) 296-303
The positive predictive value of cell free DNA screening: A call for full disclosure.
Grace MR et al. Am. J. Obstet. Gynecol. 2015 May 5.
Grace MR et al. Am. J. Obstet. Gynecol. 2015 May 5.
Reviews, News and Commentaries
Ten simple rules for a successful cross-disciplinary collaboration.
Knapp B, et al. PLoS Comput Biol. 2015 Apr 30;11(4):e1004214
Knapp B, et al. PLoS Comput Biol. 2015 Apr 30;11(4):e1004214
Single molecules meet genomics: Pinpointing precision medicine
Xie XS JAMA 2015 May 14
Xie XS JAMA 2015 May 14
Quicker sepsis diagnosis may be a step closer, by Ashley Yeager, Science News, May 14
by Ashley Yeager, Science News, May 14A wild ride: A genetic counselor undergoes genetic testing, by Caroline Lieber, National Society of Genetic Counselors Blog, May 13, 2015
by Caroline Lieber, National Society of Genetic Counselors Blog, May 13, 2015RPT-INSIGHT-How DNA sequencing is transforming the hunt for new drugs, by Julie Steenhuysen, Reuters, May 13
by Julie Steenhuysen, Reuters, May 13Cystic fibrosis drug wins approval of F.D.A. Advisory Panel, by Andrew Pollack, The New York Times, May 12
by Andrew Pollack, The New York Times, May 12FDA Advisory Committee recommends approval of Ivacaftor/Lumacaftor combination drug, Cystic Fibrosis Foundation, May 12
Cystic Fibrosis Foundation, May 12N=1 drug trials: yet another form of legerdemain? By Ken Weiss, The Mermaid’s Tale, May 12
By Ken Weiss, The Mermaid’s Tale, May 12Next-generation sequencing panels cost-effective for diagnosis of hereditary colorectal cancer, by Greg Otis, Cancer Therapy Advisor, May 12
by Greg Otis, Cancer Therapy Advisor, May 12Jennifer Doudna, a pioneer who helped simplify genome editing, the New York Times, May 11
the New York Times, May 11 Poverty, race, and telomeres, Genome Web, May 11 [by free subscription only]
Genome Web, May 11 [by free subscription only]Microbiomes raise privacy concerns, by Ewen Callaway, Nature News, May 11
by Ewen Callaway, Nature News, May 11New test could spare patients from biopsies, New York Times, May 11
New York Times, May 11Overkill - An avalanche of unnecessary medical care is harming patients physically and financially. What can we do about it? By Atul Gawande, The New Yorker, May 11
By Atul Gawande, The New Yorker, May 11Crispr: is it a good idea to 'upgrade' our DNA? By Zoë Corbyn, The Guardian, May 10
By Zoë Corbyn, The Guardian, May 10 Promise, peril seen in personalized cancer therapy, by Marie McCullough, Philly.com, May 10
by Marie McCullough, Philly.com, May 10A doctor's plan to save personalized medicine, The Cancer Letter, May 8
The Cancer Letter, May 8The blurred lines of genetic data: Practicality, pleasure and policing, by Jessica Cussins, Huffington Post Blog, May 8
by Jessica Cussins, Huffington Post Blog, May 8Thoughts on proposed mandatory ECG screening for student athletes in Texas, by Elsayed Z. Soliman, JAMA Internal Medicine Blog, May 8
by Elsayed Z. Soliman, JAMA Internal Medicine Blog, May 8Behind the scenes of breast cancer, researchers collect genetic clues in BRCA database, Globe News Wire, May 7
Globe News Wire, May 7Genomic knowledge is power in the fight against obesity, by Bruce Agnew, NHGRI, May 7
by Bruce Agnew, NHGRI, May 7Personalised cancer treatment a step closer with world's first 'living biobank', by Ian Sample, The Guardian, May 7
by Ian Sample, The Guardian, May 7IBM's Watson to guide cancer therapies at 14 centers, Reuters, May 6
Reuters, May 6Tools and Databases
ClinSeK: a targeted variant characterization framework for clinical sequencing.
Zhou W, et al. Genome Med. 2015 Mar 31;7(1):34.
Zhou W, et al. Genome Med. 2015 Mar 31;7(1):34.
Genomics. New database links regulatory DNA to its target genes.
Pennisi E. Science. 2015 May 8;348(6235):618-9.
Pennisi E. Science. 2015 May 8;348(6235):618-9.
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