Volume 34 Number 15 April 16-23, 2015
Human Genomics across the Lifespan
Cancer
A decision support framework for genomically informed investigational cancer therapy.
Meric-Bernstam F et al. J. Natl. Cancer Inst. 2015 Jul 107(7)
Meric-Bernstam F et al. J. Natl. Cancer Inst. 2015 Jul 107(7)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck TR et al. JAMA 2015 Apr 7. 313(13) 1347-61
Rebbeck TR et al. JAMA 2015 Apr 7. 313(13) 1347-61
Breast cancer subtype intertumor heterogeneity: MRI-based features predict results of a genomic assay.
Sutton EJ et al. J Magn Reson Imaging 2015 Apr 7.
Sutton EJ et al. J Magn Reson Imaging 2015 Apr 7.
Comparison of next-generation sequencing and mutation-specific platforms in clinical practice.Hinrichs JW J et al. Am. J. Clin. Pathol. 2015 Apr 143(4) 573-8
Hinrichs JW J et al. Am. J. Clin. Pathol. 2015 Apr 143(4) 573-8
Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer.
Jagsi R et al. J. Clin. Oncol. 2015 Apr 6.
Jagsi R et al. J. Clin. Oncol. 2015 Apr 6.
Early diffusion of gene expression profiling in breast cancer patients associated with areas of high income inequality.
Ponce NA et al. Health Aff (Millwood) 2015 Apr 1. 34(4) 609-15
Ponce NA et al. Health Aff (Millwood) 2015 Apr 1. 34(4) 609-15
Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer.
Cragun D et al. Breast Cancer Res. Treat. 2015 Apr 14.
Cragun D et al. Breast Cancer Res. Treat. 2015 Apr 14.
Known susceptibility SNPs for sporadic prostate cancer show a similar association with "hereditary" prostate cancer.
Cremers RG et al. Prostate 2015 Apr 1. 75(5) 474-83
Cremers RG et al. Prostate 2015 Apr 1. 75(5) 474-83
On the road to precision cancer medicine: Analysis of genomic biomarker actionability in 439 patients.
Schwaederle M et al. Mol. Cancer Ther. 2015 Apr 7.
Schwaederle M et al. Mol. Cancer Ther. 2015 Apr 7.
Patient perceptions of stool DNA testing for pan-digestive cancer screening: a survey questionnaire.
Yang D et al. World J. Gastroenterol. 2014 May 7. 20(17) 4972-9
Yang D et al. World J. Gastroenterol. 2014 May 7. 20(17) 4972-9
Prediction of breast cancer risk based on profiling with common genetic variants.
Mavaddat N et al. J. Natl. Cancer Inst. 2015 May 107(5)
Mavaddat N et al. J. Natl. Cancer Inst. 2015 May 107(5)
Prospective study of the impact of the Prosigna assay on adjuvant clinical decision-making in unselected patients with estrogen receptor-positive, HER2-negative, node-negative early-stage breast cancer.
Martín M et al. Curr Med Res Opin 2015 Apr 8. 1-28
Martín M et al. Curr Med Res Opin 2015 Apr 8. 1-28
Randomized trial of telegenetics vs. in-person cancer genetic counseling: Cost, patient satisfaction and attendance.
Buchanan AH et al. J Genet Couns 2015 Apr 3.
Buchanan AH et al. J Genet Couns 2015 Apr 3.
Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators
Schneider JL, et al. Genetics in Medicine (2015) April 16
Schneider JL, et al. Genetics in Medicine (2015) April 16
The contributions of breast density and common genetic variation to breast cancer risk.
Vachon CM et al. J. Natl. Cancer Inst. 2015 May 107(5)
Vachon CM et al. J. Natl. Cancer Inst. 2015 May 107(5)
The genomic expression test EndoPredict is a prognostic tool for identifying risk of local recurrence in postmenopausal endocrine receptor-positive, her2neu-negative breast cancer patients randomised within the prospective ABCSG 8 trial.
Fitzal F et al. Br. J. Cancer 2015 Apr 14. 112(8) 1405-1410
Fitzal F et al. Br. J. Cancer 2015 Apr 14. 112(8) 1405-1410
The sooner the better: Genetic testing following ovarian cancer diagnosis.
Fox E et al. Gynecol. Oncol. 2015 Apr 10.
Fox E et al. Gynecol. Oncol. 2015 Apr 10.
The psychological impact of undergoing genetic-risk profiling in men with a family history of prostate cancer.
Bancroft EK et al. Psychooncology 2015 Apr 14.
Bancroft EK et al. Psychooncology 2015 Apr 14.
Chronic Diseases
"It's good to know": Experiences of gene identification and result disclosure in familial epilepsies.
Vears DF et al. Epilepsy Res. 2015 May 11264-71
Vears DF et al. Epilepsy Res. 2015 May 11264-71
Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces.
Semsarian C et al. Trends Cardiovasc. Med. 2015 Mar 6.
Semsarian C et al. Trends Cardiovasc. Med. 2015 Mar 6.
The clinical utility of a single-nucleotide polymorphism microarray in patients with epilepsy at a tertiary medical center.
Hrabik SA et al. J. Child Neurol. 2015 Apr 10.
Hrabik SA et al. J. Child Neurol. 2015 Apr 10.
Ethics, Policy and Law
How state and federal policies as well as advances in genome science contribute to the high cost of cancer drugs.
Ramsey SD et al. Health Aff (Millwood) 2015 Apr 1. 34(4) 571-5
Ramsey SD et al. Health Aff (Millwood) 2015 Apr 1. 34(4) 571-5
Policy and privacy and .., Genome Web, Apr 14 [by free subscription only]
Genome Web, Apr 14 [by free subscription only]
Shill gambit: Are geneticists who work for corporations less ethical than university researchers?By Layla Katiraee, Genetic Literacy Project, Apr 14
By Layla Katiraee, Genetic Literacy Project, Apr 14Genomics in Practice
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al. BMC Med. Genet. 2014 15134
McLaughlin HM et al. BMC Med. Genet. 2014 15134
Family decision maker perspectives on the return of genetic results in biobanking research.
Siminoff LA et al. Genet. Med. 2015 Apr 9.
Siminoff LA et al. Genet. Med. 2015 Apr 9.
Genetic testing: ACMG guides on the interpretation of sequence variants.
Bahcall OG et al. Nat. Rev. Genet. 2015 Apr 9.
Bahcall OG et al. Nat. Rev. Genet. 2015 Apr 9.
Genetics and the placebo effect: the placebome
Hall KT, et al. Trends in Molecular Medicine 2015 April 14
Hall KT, et al. Trends in Molecular Medicine 2015 April 14
The placebome: Where genetics and the placebo effect meet, Eurekalert, Apr 13
Eurekalert, Apr 13
Genomic sequencing and the impact of molecular diagnosis on patient care.
Solomon BD et al. Mol Syndromol 2015 Feb 6(1) 4-6
Solomon BD et al. Mol Syndromol 2015 Feb 6(1) 4-6
On the justifiability of ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
May T et al. J Law Med Ethics 2015 Mar 43(1) 134-42
May T et al. J Law Med Ethics 2015 Mar 43(1) 134-42
Perspectives on genetic and genomic technologies in an academic medical center: the Duke experience.
Katsanis SH et al. J Pers Med 2015 5(2) 67-82
Katsanis SH et al. J Pers Med 2015 5(2) 67-82
Psychological impact of family history risk assessment in primary care: a mixed methods study.
Birt L et al. Fam Pract 2014 Aug 31(4) 409-18
Birt L et al. Fam Pract 2014 Aug 31(4) 409-18
The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research.
Ritchie MD et al. Front Genet 2015 6104
Ritchie MD et al. Front Genet 2015 6104
Views of nonmedical, health system professionals regarding the return of whole genome sequencing incidental findings.
Strong A et al. WMJ 2014 Oct 113(5) 179-84
Strong A et al. WMJ 2014 Oct 113(5) 179-84
Newborn Screening
We must take baby steps into newborn genome sequencing, New Scientist, Apr 10
New Scientist, Apr 10Pharmacogenomics
Limited clinical utility of genotype-guided warfarin initiation dosing algorithms versus standard therapy: a meta-analysis and trial sequential analysis of 11 randomized controlled trials.
Tang HL et al. Pharmacogenomics J. 2015 Apr 14.
Tang HL et al. Pharmacogenomics J. 2015 Apr 14.
Reproductive Health
[Prenatal diagnosis of fetal chromosome aneuploidy by massively parallel genomic sequencing].
Jin Y et al. Zhonghua Yi Xue Za Zhi 2014 Jun 17. 94(23) 1788-90
Jin Y et al. Zhonghua Yi Xue Za Zhi 2014 Jun 17. 94(23) 1788-90
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Pfundt R, et al. Genetics in Medicine (2015) April 16
Pfundt R, et al. Genetics in Medicine (2015) April 16
It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing.
Muller C et al. Health Expect 2015 Apr 13.
Muller C et al. Health Expect 2015 Apr 13.
Reviews, News and Commentaries
How to get all trials reported: audit, better data, and individual accountability
Goldacre B PLoS Medicine 2015 April 14
Goldacre B PLoS Medicine 2015 April 14
Personomics
Ziegelstein RC JAMA Intern Med. April 13, 2015
Ziegelstein RC JAMA Intern Med. April 13, 2015
Cancer mutations often misidentified in the clinic, by Heidi Ledford, Nature News, Apr 15
by Heidi Ledford, Nature News, Apr 15
Health: Make precision medicine work for cancer care, by Mark A, Rubin, Nature News, Apr 15
by Mark A, Rubin, Nature News, Apr 15
£5m stratified medicine programme launched to personalise care for bowel cancer patients, Cancer Research UK, Apr 14
Cancer Research UK, Apr 14
California unveils 'precision-medicine' project, by Erika Check Hayden, Nature News, Apr 14
by Erika Check Hayden, Nature News, Apr 14
For modern parents, how to weigh pros and cons of sequencing baby's genome, by Helen Thomson, Genetic Literacy Project, Apr 14
by Helen Thomson, Genetic Literacy Project, Apr 14
Disrupting prenatal care -- a revolution is underway, Medcape, Apr 13 [by free subscription only]
Medcape, Apr 13 [by free subscription only]
IBM creates Watson Health to analyze medical data, by Steve Lohr, New York Times Blog Post, Apr 13
by Steve Lohr, New York Times Blog Post, Apr 13
Can cancer be stopped?: One of the world's most decorated doctors on the remarkable progress made and the daunting road ahead, by Harold Varmus, New York Daily News, Apr 12
by Harold Varmus, New York Daily News, Apr 12
The 'Angelina Effect' in genetic cancer testing, Boise Weekly, Apr 12
Boise Weekly, Apr 12
Should oncologists be ordering breast cancer gene panels? By Caroline Helwick, ASCO Post, Apr 10
By Caroline Helwick, ASCO Post, Apr 10
Obama's personalized medicine plan advances, by Tim Sandle, Digital Journal, Apr 11
by Tim Sandle, Digital Journal, Apr 11
Turning to big, big data to see what ails the world, by Tina Rosenberg, Apr 9
by Tina Rosenberg, Apr 9
Cancer treatment gets more personalised than ever, by Dr Philippa Brice, PHG Foundation, Apr 8
by Dr Philippa Brice, PHG Foundation, Apr 8
Rare variants in complex disease: ABCA7 and Alzheimer's, by Dan Koboldt, Mass Genomics, Apr 6
by Dan Koboldt, Mass Genomics, Apr 6
New guidance on cervical cancer screening, by Deborah Levenson, AACC, Apr 1
by Deborah Levenson, AACC, Apr 1Tools and Databases
GeneMed: An informatics hub for the coordination of next-generation sequencing studies that support precision oncology clinical trials.
Zhao Y et al. Cancer Inform 2015 14(Suppl 2) 45-55
Zhao Y et al. Cancer Inform 2015 14(Suppl 2) 45-55
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.
Antanaviciute A et al. Bioinformatics 2015 Apr 9.
Antanaviciute A et al. Bioinformatics 2015 Apr 9.
Data Science Home Page, NIH: ADDS Portal
NIH: ADDS Portal
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