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

Genomics|Update|Non Communicable Diseases

Volume 35  Number 9  August 27 - September 3, 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

What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative. 
Schaefer GB et al. Genet. Med. 2015 Aug 20.

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Cancer

Association between mutation clearance after induction therapy and outcomes in acute myeloid leukemia. 
Klco JM et al. JAMA 2015 Aug 25. 314(8) 811-822

Development and validation of a next-generation sequencing assay for BRCA1 and BRCA2 variants for the clinical laboratory. 
Strom CM et al. PLoS ONE 2015 10(8) e0136419

Does molecular monitoring matter in early-stage breast cancer? 
Sundaresan TK, et al. Science Translational Medicine 26 Aug 2015

Efficacy of a web-based intelligent tutoring system for communicating genetic risk of breast cancer: a fuzzy-trace theory approach. 
Wolfe CR et al. Med Decis Making 2015 Jan 35(1) 46-59 

Is it time to offer BRCA1 and BRCA2 testing to all Jewish women? 
Metcalfe KA et al. Curr Oncol 2015 Aug 22(4) e233-6

Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer 
Garcia-Murillas I, et al. Science Translational Medicine 26 Aug 2015

New ‘mutation-tracking’ blood test could predict breast cancer relapse months in advance,the Institute of Cancer Research, Aug 26

NCI-MATCH launch highlights new trial design in precision-medicine era.
McNeil C. J Natl Cancer Inst. 2015 Jul 3;107(7). pii: djv193.

Next-generation sequencing and detection of minimal residual disease in acute myeloid leukemia: Ready for clinical practice? 
Pastore F et al. JAMA 2015 Aug 25. 314(8) 778-780

Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening. 
Frey MK et al. Gynecol. Oncol. 2015 Aug 18.

Screening strategies for colorectal cancer among patients with non-alcoholic fatty liver disease and family history. 
Wong MC et al. Int. J. Cancer 2015 Aug 20.

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.
Maia S, et al. Fam Cancer. 2015 Aug 20.

Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome? 
Song T et al. Eur. J. Obstet. Gynecol. Reprod. Biol. 2015 Aug 19.

Initial medical policy and model coverage guidelines for clinical NGS in oncology, [PDF 965.34 KB] 
Green Park Collaborative, Aug 17

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Chronic Diseases

A systematic review on the cost-effectiveness of genetic and electrocardiogram testing for Long QT syndrome in infants and young adults. 
Gonzalez FM et al. Value Health 2015 Jul 18(5) 700-8

If three of my brothers have ankylosing spondylitis, why does the doctor say it is not necessarily hereditary? The meaning of risk in multiplex case families with ankylosing spondylitis. 
Peláez-Ballestas I et al. Chronic Illn 2015 Aug 19.

The genomic landscape of human immune-mediated diseases. 
Wu X et al. J. Hum. Genet. 2015 Aug 20. 

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Ethics, Policy and Law

An unfulfilled promise: Changes needed to the drug approval process to make personalized medicine a reality. 
Riley MF et al. Food Drug Law J 2015 70(2) 289-314, ii-iii

Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias. 
Orozco-Gutiérrez MH et al. Neurologia 2015 Aug 21.

Military health care dilemmas and genetic discrimination: A family's experience with whole exome sequencing. 
Helm BM et al. Narrat Inq Bioeth 2015 5(2) 179-86

Pharmacogenomics, human genetic diversity and the incorporation and rejection of color/race in Brazil. 
Santos RV et al. Biosocieties 2015 Mar 1. 10(1) 48-69

The gene patent controversy on Twitter: a case study of Twitter users' responses to the CHEO lawsuit against Long QT gene patents. 
Du Li et al. BMC Med Ethics 2015 1655

The limits of FDA's authority to regulate clinical research involving high-throughput DNA sequencing. 
Evans BJ et al. Food Drug Law J 2015 70(2) 259-87, ii

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Genomics in Practice

Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing. 
Richards EG et al. Prenat. Diagn. 2015 Aug 19. 

The new world of genomic testing, families and privacy. 
Wolf SM et al. Minn Med 2015 Jun 98(6) 32-4

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Newborn Screening

Screening for cystic fibrosis in New York State: considerations for algorithm improvements. 
Kay DM et al. Eur. J. Pediatr. 2015 Aug 21.

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Pharmacogenomics

Physicians' opinions following pharmacogenetic testing for psychotropic medication. 
Walden LM et al. Psychiatry Res 2015 Aug 7. PSYD1500197

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Reproductive Health

The evolution of prenatal genetic screening. 
Gross S et al. MLO Med Lab Obs 2015 May 47(5) 14

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Reviews, News and Commentaries

The DNA of a nation 
Vivien Marx Nature 524, 503?505 (27 August 2015)

Everything you need to know about precision medicine,  by Alexandra Ossola, Popular Science, Aug 27 

Biohackers gear up for genome editing,  by Heidi Ledford, Nature News, Aug 26

Next steps in developing the Precision Medicine Initiative, the White House, Aug 21

New international effort to uncover schizophrenia genomics, by Dr Philippa Brice, PHG Foundation, Aug 20

The mystery of Jimmy Carter’s cancer, the Daily Beast, Aug 20

New guidelines to help payers navigate NGS testing in cancer, by Roxanne Nelson, Medscape, Aug 19 [by free subscription only]

It's complicated: genomics, obesity and diabetes, Genomics Education Programme, Aug 17

Genetic testing can lead to insights — or uncertainty, by Lauren M. Green, Cure, Aug 13