Volume 35 Number 10 September 3-10, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
Tammimies K, et al. JAMA. 2015;314(9):895-903.
Tammimies K, et al. JAMA. 2015;314(9):895-903.
Children with sex chromosome trisomies: parental disclosure of genetic status.
Gratton NC et al. Eur. J. Hum. Genet. 2015 Aug 26.
Gratton NC et al. Eur. J. Hum. Genet. 2015 Aug 26.
Cystic fibrosis: A novel pharmacologic approach to cystic fibrosis transmembrane regulator modulation therapy.
Virant-Young D et al. J Am Osteopath Assoc 2015 Sep 1. 115(9) 546-555
Virant-Young D et al. J Am Osteopath Assoc 2015 Sep 1. 115(9) 546-555
Cancer
American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility
Robson ME, et al. JCO.2015.63.0996
Robson ME, et al. JCO.2015.63.0996
Genetic cancer susceptibility testing: Increased technology, increased complexity
Yu PP, et al. JCO.2015.63.3628
Yu PP, et al. JCO.2015.63.3628
Association between use of the 21-gene recurrence score assay and receipt of chemotherapy among Medicare beneficiaries with early-stage breast cancer, 2005-2009.
Dinan MA et al. JAMA Oncol 2015 Aug 27.
Dinan MA et al. JAMA Oncol 2015 Aug 27.
Counselees' expressed level of understanding of the risk estimate and surveillance recommendation are not associated with breast cancer surveillance adherence.
Albada A et al. J Genet Couns 2015 Sep 1.
Albada A et al. J Genet Couns 2015 Sep 1.
EGFR mutation testing of lung cancer patients - Experiences from Vestfold Hospital Trust.
Berg J et al. Acta Oncol 2015 Aug 27. 1-7
Berg J et al. Acta Oncol 2015 Aug 27. 1-7
Improving patient outcomes with cancer genomics
Schnepp RW, et al. JAMA. 2015;314(9):881-883.
Schnepp RW, et al. JAMA. 2015;314(9):881-883.
Integrative clinical sequencing in the management of refractory or relapsed cancer in youth
Moody RJ, et al. JAMA. 2015;314(9):913-925.
Moody RJ, et al. JAMA. 2015;314(9):913-925.
MSIplus: Integrated colorectal cancer molecular testing by next-generation sequencing.
Hempelmann JA et al. J Mol Diagn 2015 Aug 28.
Hempelmann JA et al. J Mol Diagn 2015 Aug 28.
Molecular testing in anatomic pathology and adherence to guidelines: A College of American Pathologists Q-probes study of 2230 testing events reported by 26 institutions.
Volmar KE et al. Arch. Pathol. Lab. Med. 2015 Sep 139(9) 1115-24
Volmar KE et al. Arch. Pathol. Lab. Med. 2015 Sep 139(9) 1115-24
Obesity, aspirin, and risk of colorectal cancer in carriers of hereditary colorectal cancer: A prospective investigation in the CAPP2 study.
Movahedi M et al. J. Clin. Oncol. 2015 Aug 17.
Movahedi M et al. J. Clin. Oncol. 2015 Aug 17.
Patients tested at a laboratory for hereditary cancer syndromes show an overlap for multiple syndromes in their personal and familial cancer histories.
Saam J et al. Oncology 2015 Aug 28.
Saam J et al. Oncology 2015 Aug 28.
Positive family history of colorectal cancer in a general practice setting [FRIDA.Frankfurt]: study protocol of a of a cross-sectional study.
Siebenhofer A et al. BMC Cancer 2015 15(1) 605
Siebenhofer A et al. BMC Cancer 2015 15(1) 605
Precision medicine at Memorial Sloan Kettering Cancer Center: clinical next-generation sequencing enabling next-generation targeted therapy trials.
Hyman DM et al. Drug Discov. Today 2015 Aug 27.
Hyman DM et al. Drug Discov. Today 2015 Aug 27.
Precision medicine in breast cancer care: An early glimpse of impact.
Kurian AW et al. JAMA Oncol 2015 Aug 27.
Kurian AW et al. JAMA Oncol 2015 Aug 27.
Service delivery model and experiences in a cancer genetics clinic for an underserved population.
Woodson AH et al. J Health Care Poor Underserved 2015 26(3) 784-91
Woodson AH et al. J Health Care Poor Underserved 2015 26(3) 784-91
The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.
Zupan A et al. Exp. Mol. Pathol. 2015 Aug 27.
Zupan A et al. Exp. Mol. Pathol. 2015 Aug 27.
The influence of screening for precancerous lesions on family-based genetic association tests: An example of colorectal polyps and cancer.
Schmit SL et al. Am. J. Epidemiol. 2015 Aug 24.
Schmit SL et al. Am. J. Epidemiol. 2015 Aug 24.
Chronic Diseases
Challenges in the care of familial hypercholesterolemia: a community care perspective.
Brett T et al. Expert Rev Cardiovasc Ther 2015 Aug 27. 1-10
Brett T et al. Expert Rev Cardiovasc Ther 2015 Aug 27. 1-10
Identification and treatment of patients with homozygous familial hypercholesterolaemia: information and recommendations from a Middle East advisory panel.
Al-Ashwal A et al. Curr Vasc Pharmacol 2015 Aug 27.
Al-Ashwal A et al. Curr Vasc Pharmacol 2015 Aug 27.
PCSK9 inhibitor dramatically reduces cholesterol in patients with familial hypercholesterolemia, European Society of Cardiology 2015 Conference Coverage, Sep 1
European Society of Cardiology 2015 Conference Coverage, Sep 1 Genomics in Practice
A health literacy program using family health history for young black rural students: Implications for reducing health disparities.
Foster PP et al. J Health Care Poor Underserved 2015 26(3) 662-7
Foster PP et al. J Health Care Poor Underserved 2015 26(3) 662-7
Available tools to facilitate early patient access to medicines in the EU and the USA: Analysis of conditional approvals and the implications for personalized medicine.
Leyens L et al. Public Health Genomics 2015 Aug 28.
Leyens L et al. Public Health Genomics 2015 Aug 28.
Developing the scientific infrastructure to produce ethnogenetically-specific personalized medicine.
Ehrlich GD et al. Genet Test Mol Biomarkers 2015 Aug 26.
Ehrlich GD et al. Genet Test Mol Biomarkers 2015 Aug 26.
Direct-to-consumer genetic testing: A systematic review of European guidelines, recommendations, and position statements.
Rafiq M et al. Genet Test Mol Biomarkers 2015 Aug 27.
Rafiq M et al. Genet Test Mol Biomarkers 2015 Aug 27.
Genetic knowledge among participants in the Coriell Personalized Medicine Collaborative.
Schmidlen TJ et al. J Genet Couns 2015 Aug 27.
Schmidlen TJ et al. J Genet Couns 2015 Aug 27.
Newborn Screening
Newborn screening for lysosomal storage disorders: Views of genetic healthcare providers.
Lisi EC et al. J Genet Couns 2015 Aug 29.
Lisi EC et al. J Genet Couns 2015 Aug 29.
Reproductive Health
Noninvasive prenatal genetic testing: Current and emerging ethical, legal, and social issues.
Minear MA et al. Annu Rev Genomics Hum Genet 2015 Aug 24. 16369-398
Minear MA et al. Annu Rev Genomics Hum Genet 2015 Aug 24. 16369-398
Reviews, News and Commentaries
Personal responsibility
Nature 525, 5 (03 September 2015)
Nature 525, 5 (03 September 2015)
Whole genome? 
[PDF 123.86 KB]
Nature Genetics Vol 47 #9 2015 Sep
[PDF 123.86 KB]Nature Genetics Vol 47 #9 2015 Sep
US agencies plan research ethics overhaul, by Heidi Ledford, Nature News, September 3, 2015
by Heidi Ledford, Nature News, September 3, 2015
Direct-to-consumer genetic testing: Will it go away? By Patricia Fitzpatrick Dimond, GEN, Sep 1
By Patricia Fitzpatrick Dimond, GEN, Sep 1
Giant study poses DNA data-sharing dilemma, by Sara Reardon, Nature News, Sep 1
by Sara Reardon, Nature News, Sep 1
Initial joint statement on genome editing in human cells, Wellcome Trust, Sep 1
Wellcome Trust, Sep 1
New guidelines for cancer doctors aim to make sense of gene tests, by Julie Steenhuysen, Reuters, Aug 31
by Julie Steenhuysen, Reuters, Aug 31
“The BRCA responder” on genetic testing, family histories, and why counseling is key, by Kelly Johnson, Aug 31
by Kelly Johnson, Aug 31
Genetic counseling and the Precision Medicine Initiative, by Erica Ramos, National Society of Genetic Counselors, Aug 26
by Erica Ramos, National Society of Genetic Counselors, Aug 26
The possibility—and pitfalls—of precision medicine, by Ãine O'Connor, St. Louis Public Radio, Aug 25
by Ãine O'Connor, St. Louis Public Radio, Aug 25
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