Genomics|Update|Non Communicable Diseases ▲ Human Genomics across the Lifespan

Genomics|Update|Non Communicable Diseases

Volume 34  Number 3  January 22-29, 2015

Human Genomics across the Lifespan

• Birth Defects & Child Health
• Cancer
• Chronic Diseases
• Ethics, Policy & Law
• Genomics in Practice

• Newborn Screening
• Reproductive Health
• Reviews, News & Commentaries
• Tools & Databases

Birth Defects and Child Health

Clinical application of a custom AmpliSeq library and Ion Torrent PGM sequencing to comprehensive mutation screening for deafness genes
Nishio SY, et al. Genet Test Mol Biomarkers 2015 Jan

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Cancer

Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology
Garfield SM, et al. Personalized Medicine. 12(1): 13-22

Cost-effectiveness of multiplexed predictive biomarker screening in non-small cell lung cancer
Romanus D, et al. J Thorac Oncol 2015 Jan

Development of a prognostic genetic signature to predict the metastatic risk associated with cutaneous melanoma.
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  

Incorporating microarray assessment of HER2 status in clinical practice supports individualised therapy in early-stage breast cancer
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
Vandenberghe P, et al. The Lancet Haematology 2015 Jan 19

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma]
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 
Am Fam Physician 2015 Jan;91(2):Online

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women
Lee K & Rossi C Am Fam Physician 2015 Jan;91(2):119-20

Self referral for cancer tests is to be piloted in England
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

The next generation of large-scale epidemiologic research: implications for training cancer epidemiologists
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
Knight SJ, et al. Med Decis Making 2015 Jan

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Chronic Diseases

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience
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.
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
Ahmed A. Alfares et al. Genetics in Medicine, January 22, 2015

Tackling the Achilles' heel of genetic testing.
Watkins H. Sci Transl Med. 2015 Jan 14;7(270):270fs1.

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Ethics, Policy and Law

Communicating with biobank participants: Preferences for receiving and providing updates to researchers
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
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
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)
Yamamoto N, et al. J Hum Genet. 2015 Jan 15. 

The emerging need for family-centric initiatives for obtaining consent in personal genome research
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?
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

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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

Genomic medicine and risk prediction across the disease spectrum
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
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.
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
Agurs-Collins T, et al. J Cancer Educ 2015 Jan

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Newborn Screening

Michigan celebrates 50th Anniversary of Newborn Screening 2015

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Reproductive Health

Noninvasive prenatal testing for trisomy 21, 18 and 13 - clinical experience from 146,958 pregnancies
Zhang H, et al. Ultrasound Obstet Gynecol 2015 Jan

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Reviews, News and Commentaries

Revisiting tissue specificity of germline cancer predisposing mutations
Maris J, et al.  Nature Reviews Cancer 2015 Jan 16

The human microbiome: Getting personal.  [PDF 147.25 KB]
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

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Tools and Databases

MADGiC: a model-based approach for identifying driver genes in cancer. 
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

EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.
Rackham OJ, et al. Nucleic Acids Res. 2014 Dec 29. pii: gku1322.