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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 2  January 15-22, 2015

Human Genomics across the Lifespan

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

• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Reviews, News & Commentaries

Birth Defects and Child Health

Public health approach to birth defects: the Argentine experience
Bidondo MP, et al. J Community Genet 2015 Jan

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Cancer

Economic evaluation of genetic screening for Lynch syndrome in Germany
Severin F, et al. Genet Med 2015 Jan

Emerging biomarkers in head and neck cancer in the era of genomics. 
Hyunseok Kang, et al. Nature Reviews Clinical Oncology; 2015; 12:11-26

Implications of polygenic risk-stratified screening for prostate cancer on overdiagnosis
Pashayan N, et al. Genet Med 2015 Jan

Prostate cancer risk prediction based on complete prostate cancer family history. 
Albright F et al., Prostate. 2014 Nov 18.

Screening for Lynch syndrome: It is time to shift the focus
Kidambi TD & Terdiman JP Dig Dis Sci 2015 Jan

Cost-effectiveness and diagnostic effectiveness analyses of multiple algorithms for the diagnosis of Lynch syndrome. 
Gould-Suarez M, et al. Dig Dis Sci 2014 Dec;59(12)2913-26.

Should KRAS mutation still be used as a routine predictor of response to EGFR-TKIs in advanced non-small-cell lung cancer? A revaluation based on meta-analysis
Ying M, et al. J Cancer Res Clin Oncol 2015 Jan

Validation of family cancer history data in high-risk families: The influence of cancer site, ethnicity, kinship degree, and multiple family reporters.
Tehranifar P, et al. Am J Epidemiol. 2015 Jan 7. pii: kwu258.

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Chronic Diseases

A combined genetic and clinical risk prediction model for postoperative atrial fibrillation
Kolek MJ, et al. Circ Arrhythm Electrophysiol 2015 Jan

Cost-effectiveness analysis of alternative screening and treatment strategies for heterozygous familial hypercholesterolemia in the United States
Chen CX & Hay JW Int J Cardiol 2014 Dec;181C:417-24

Factors associated with uptake of genetics services for hypertrophic cardiomyopathy
Khouzam A, et al. J Genet Couns 2015 Jan

Practical guidelines for managing adults with 22q11.2 deletion syndrome
Fung WL, et al. Genet Med 2015 Jan

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis
Bonini J, et al. Genet Med 2015 Jan

Use of the nicotine metabolite ratio as a genetically informed biomarker of response to nicotine patch or varenicline for smoking cessation: a randomised, double-blind placebo-controlled trial
Caryn Lerman, et al. Lancet Respiratory Medicine, January 2015

The doctor’s dilemma: Challenges in the diagnosis and care of homozygous familial hypercholesterolemia, by Seth Baum, J Clin Lipidology, December 2014

Patch or pills? How quickly smokers metabolize nicotine may point to most effective way to quit,Science Daily, Jan 11

How personalized medicine is changing: Alzheimer's disease, by Charlotte Huff, Genome Magazine, 2014

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Ethics, Policy and Law

Are we ready for direct-to-consumer genetic testing?  [PDF 165.12 KB]
Burton A Lancet Neurology 14 Feb 2015

Ethical challenges in teaching genetics for medical students
Nagle E & Kazoka D J Microbiol Biol Educ 2014 Dec;15(2):181-5

The fiduciary relationship model for managing clinical genomic "incidental" findings
Lazaro-Munoz G J Law Med Ethics 2014 Dec;42(4):576-89

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Genomics in Practice

A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study
Scherr CL, et al. Genet Med 2015 Jan

Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases
George R, et al. J Genet Couns 2015 Jan

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
Jurgens J, et al. Genet Med 2015 Jan

Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches
Shao Y, et al. J Community Genet 2015 Jan

Formative evaluation of clinician experience with integrating family history-based clinical decision support into clinical practice
Doerr M, et al. J Pers Med 2014;4(2):115-36

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities
Mersha TB & Abebe T Hum Genomics 2015 Jan;9(1):1

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Newborn Screening

Newborn screening: This tiny test is a big job that’s always improving, APHL Lab Log, Jan 12

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Pharmacogenomics

Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia
Gregers J, et al. The Pharmacogenomics Journal 2015 Jan 13

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Reproductive Health

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
Bayindir B, et al. Eur J Hum Genet. 2015 Jan 14. 

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Reviews, News and Commentaries

Exceptional opportunities in medical science: A view from the National Institutes of Health
Francis S. Collins, JAMA January 13, 2015

Methods of integrating data to uncover genotype–phenotype interactions. 
Marylyn D. Ritchie et al. Nature Reviews Genetics, January 13, 2015

Rethinking barriers to big data 
Tim Lougheed CMAJ January 6, 2015 vol. 187 no. 1

Scientific discovery and the future of medicine
Phil B. Fontanarosa and Howard Bauchner JAMA, January 13, 2015

Blood test for smokers could show best way to quit, by Rebecca Burbidge, Jan 15

Big opportunities exist for cancer research and treatment, but challenges lie ahead, by Ralf Huss, GEN News, Jan 13

Genomics as a game-changer in public health, by Dr Charlotte Warren-Gash, PHG Foundation, Jan 13

2015: Another year of sequencing evolution (not revolution)? Omics! Omics! Jan 12

23andMe teams with big pharma to find treatments hidden in our DNA, Wired, Jan 12

AMP, CAP, IASLC plan revisions to lung cancer molecular testing guidelines, Genome Web, Jan 12 [by free subscription only]

Skeptic’s guide to debunking claims about telomeres in the scientific and pseudoscientific literature by James Coyne, Science-based Medicine Blog, Jan 11

DNA, it turns out, is a lot more loopy, National Public Radio, Jan 10

Big data analytics research projects target cancer, genomics, by Jennifer Bresnick, HealthIT Analytics, Jan 9

DNAdigest interviews Free the Data – Part 1, by Margarita Kolchagova, DNA Digest, Jan 7

Cancer genomics: from big data to clinical practice, Biome Blog Post, Jan 5

Big data not a cure-all in medicine, National Public Radio, Jan 5

Does fat run in families? BBC, Jan 2015