Volume 34 Number 3 January 22-29, 2015
Birth Defects and Child Health
Clinical application of a custom AmpliSeq library and Ion Torrent PGM sequencing to comprehensive mutation screening for deafness genes![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Nishio SY, et al. Genet Test Mol Biomarkers 2015 Jan
Nishio SY, et al. Genet Test Mol Biomarkers 2015 Jan
Cancer
Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Garfield SM, et al. Personalized Medicine. 12(1): 13-22
Garfield SM, et al. Personalized Medicine. 12(1): 13-22
Cost-effectiveness of multiplexed predictive biomarker screening in non-small cell lung cancer![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Romanus D, et al. J Thorac Oncol 2015 Jan
Romanus D, et al. J Thorac Oncol 2015 Jan
Development of a prognostic genetic signature to predict the metastatic risk associated with cutaneous melanoma.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Gerami P, et al. Clin Cancer Res. 2015 Jan 1;21(1):175-83.
Gerami P, et al. Clin Cancer Res. 2015 Jan 1;21(1):175-83.
New test identifies early-stage melanoma with metastatic risk,
Medscape, Jan 15 [by free subscription only]
Family history and the natural history of colorectal cancer: systematic review.
Henrikson NB, et al. Genetics in Medicine, January 15, 2015
Henrikson NB, et al. Genetics in Medicine, January 15, 2015
Incorporating microarray assessment of HER2 status in clinical practice supports individualised therapy in early-stage breast cancer![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Grant KA, et al. Breast 2015 Jan
Grant KA, et al. Breast 2015 Jan
Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Vandenberghe P, et al. The Lancet Haematology 2015 Jan 19
Vandenberghe P, et al. The Lancet Haematology 2015 Jan 19
[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma]![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Avril MF, et al. Ann Dermatol Venereol 2015 Jan;142(1):26-36
Avril MF, et al. Ann Dermatol Venereol 2015 Jan;142(1):26-36
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: Recommendation statement ![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Am Fam Physician 2015 Jan;91(2):Online
Am Fam Physician 2015 Jan;91(2):Online
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Lee K & Rossi C Am Fam Physician 2015 Jan;91(2):119-20
Lee K & Rossi C Am Fam Physician 2015 Jan;91(2):119-20
Self referral for cancer tests is to be piloted in England![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Wise J BMJ. 2015 Jan 13;350:h185.
Wise J BMJ. 2015 Jan 13;350:h185.
Sputum microRNA biomarkers for identifying lung cancer in indeterminate solitary pulmonary nodules.
Xing L, et al. Clinical Cancer Research, January 15, 2015
Xing L, et al. Clinical Cancer Research, January 15, 2015
The next generation of large-scale epidemiologic research: implications for training cancer epidemiologists![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Spitz MR, et al. Am J Epidemiol 2014 Nov;180(10):964-7
Spitz MR, et al. Am J Epidemiol 2014 Nov;180(10):964-7
Value of genetic testing for hereditary colorectal cancer in a probability-based US online sample![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Knight SJ, et al. Med Decis Making 2015 Jan
Knight SJ, et al. Med Decis Making 2015 Jan
Chronic Diseases
Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Bell DA, et al. Atherosclerosis 2014 Dec;239(1):93-100
Bell DA, et al. Atherosclerosis 2014 Dec;239(1):93-100
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Roberts AM, et al. Sci Transl Med. 2015 Jan 14;7(270):270ra6.
Roberts AM, et al. Sci Transl Med. 2015 Jan 14;7(270):270ra6.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Ahmed A. Alfares et al. Genetics in Medicine, January 22, 2015
Ahmed A. Alfares et al. Genetics in Medicine, January 22, 2015
Tackling the Achilles' heel of genetic testing.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Watkins H. Sci Transl Med. 2015 Jan 14;7(270):270fs1.
Watkins H. Sci Transl Med. 2015 Jan 14;7(270):270fs1.
Ethics, Policy and Law
Communicating with biobank participants: Preferences for receiving and providing updates to researchers![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Mester JL, et al. Cancer Epidemiol Biomarkers Prev 2015 Jan
Mester JL, et al. Cancer Epidemiol Biomarkers Prev 2015 Jan
Confidentiality, informed consent and children's participation in the Saudi biobank governance: a comparative study![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Alahmad GH & Dierickx K East Mediterr Health J 2014 Nov;20(11):681-9
Alahmad GH & Dierickx K East Mediterr Health J 2014 Nov;20(11):681-9
Ethical, legal and social implications of incorporating personalized medicine into healthcare![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Brothers KB & Rothstein MA Per Med 2015;12(1):43-51
Brothers KB & Rothstein MA Per Med 2015;12(1):43-51
How should the legal framework for the protection of human genomic data be formulated?-Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act)![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Yamamoto N, et al. J Hum Genet. 2015 Jan 15.
Yamamoto N, et al. J Hum Genet. 2015 Jan 15.
The emerging need for family-centric initiatives for obtaining consent in personal genome research![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Minari J, et al. Genome Med 2014;6(12):118
Minari J, et al. Genome Med 2014;6(12):118
Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Cheon JY, et al. Genome Med 2014;6(12):121
Cheon JY, et al. Genome Med 2014;6(12):121
Deals for genetic data raise issues of privacy, sharing,
by John Lauerman and Makiko Kitamura, Bloomberg News, Jan 14
Genomics in Practice
Analytic validity of genomic testing,
Discussion paper by V. Platt et al., IOM Roundtable on Genomics Translation, Jan15
Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories.
Catharine Wang et al. Genetics in Medicine, January 15, 2015
Catharine Wang et al. Genetics in Medicine, January 15, 2015
Genomic medicine and risk prediction across the disease spectrum![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Kotze MJ, et al. Crit Rev Clin Lab Sci 2015 Jan:1-18
Kotze MJ, et al. Crit Rev Clin Lab Sci 2015 Jan:1-18
Incorporation of personal single nucleotide polymorphism (SNP) data into a national level electronic health record for disease risk assessment, part 1: an overview of requirements![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Beyan T & Aydin Son Y JMIR Med Inform 2014;2(2):e15
Beyan T & Aydin Son Y JMIR Med Inform 2014;2(2):e15
Incorporation of personal single nucleotide polymorphism (SNP) data into a national level electronic health record for disease risk assessment, part 2: the incorporation of SNP into the national health information system of Turkey.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Beyan T & Aydin Son Y JMIR Med Inform. 2014 Aug 11;2(2):e17.
Beyan T & Aydin Son Y JMIR Med Inform. 2014 Aug 11;2(2):e17.
Public awareness of direct-to-consumer genetic tests: Findings from the 2013 U.S. Health Information National Trends Survey![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Agurs-Collins T, et al. J Cancer Educ 2015 Jan
Agurs-Collins T, et al. J Cancer Educ 2015 Jan
Reproductive Health
Noninvasive prenatal testing for trisomy 21, 18 and 13 - clinical experience from 146,958 pregnancies![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Zhang H, et al. Ultrasound Obstet Gynecol 2015 Jan
Zhang H, et al. Ultrasound Obstet Gynecol 2015 Jan
Reviews, News and Commentaries
Revisiting tissue specificity of germline cancer predisposing mutations![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Maris J, et al. Nature Reviews Cancer 2015 Jan 16
Maris J, et al. Nature Reviews Cancer 2015 Jan 16
The human microbiome: Getting personal.
[PDF 147.25 KB]![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Katy Califf et al. Microbe (2014)
Katy Califf et al. Microbe (2014)
Call for debate on human genome editing,
PHG Foundation, Jan 22
UK moratorium on use of genetic tests by insurers extended,
by Philippa Brice, PHG Foundation, Jan 21
NIH researchers tackle thorny side of gene therapy,
NIH News, Jan 20
Q&A: Towards the end of genetic disease?
By Jennifer Doudna, World Economic Forum, Jan 20
My BRCA journey: Why fear of information imperils genetic testing,
by Meredith Salisbury, Technology Review, Jan 13
Understanding the impact of epigenetics podcast,
by Shea Robinson, The Nexus of Epigenetics blog post, Jan 10
Dr. Strangelove or how I learned to embrace my mutated genome,
Yoni Maisel Blog Post, Jan 8
Tools and Databases
MADGiC: a model-based approach for identifying driver genes in cancer.
Keegan D. Korthauer et al. Bioinformatics, January 2015
Keegan D. Korthauer et al. Bioinformatics, January 2015
SeqHBase: a big data toolset for family based sequencing data analysis
Min He et al. J Med Genetics, January 2015
Min He et al. J Med Genetics, January 2015
EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sTOQXSz98DkiVr599EHle6XoRFsNJKsms-6eK7JZXK2xMEh4thMlRSTLMSBlaucQCBeW87KGynLIASkyNRbuxjTv3aussFzSE6feLWtJAJ_GJDNzJ-NJ1W=s0-d)
Rackham OJ, et al. Nucleic Acids Res. 2014 Dec 29. pii: gku1322.
Rackham OJ, et al. Nucleic Acids Res. 2014 Dec 29. pii: gku1322.
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