Published on 09/03/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Cystic Fibrosis: A Novel Pharmacologic Approach to Cystic Fibrosis Transmembrane Regulator Modulation Therapy.
Virant-Young Deborah et al. J Am Osteopath Assoc 2015 Sep 1. 115(9) 546-555 -
Children with sex chromosome trisomies: parental disclosure of genetic status.
Gratton Nikki C et al. Eur. J. Hum. Genet. 2015 Aug 26. -
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Tammimies Kristiina, et al. JAMA 2015 9 0. (9) 895-903
Cancer
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American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.
Robson Mark E, et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 11 0. (31) 3660-7 -
Genetic Cancer Susceptibility Testing: Increased Technology, Increased Complexity.
Yu Peter Paul, et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 11 0. (31) 3533-4 -
MSIplus: Integrated Colorectal Cancer Molecular Testing by Next-Generation Sequencing.
Hempelmann Jennifer A et al. J Mol Diagn 2015 Aug 28. -
Precision Medicine in Breast Cancer Care: An Early Glimpse of Impact.
Kurian Allison W et al. JAMA Oncol 2015 Aug 27. -
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 Michaela A et al. JAMA Oncol 2015 Aug 27. -
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
Mody Rajen J, et al. JAMA 2015 9 0. (9) 913-25 -
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
Movahedi Mohammad et al. J. Clin. Oncol. 2015 Aug 17. -
Service Delivery Model and Experiences in a Cancer Genetics Clinic for an Underserved Population.
Woodson Ashley H et al. J Health Care Poor Underserved 2015 26(3) 784-91 -
Precision medicine at Memorial Sloan Kettering Cancer Center: clinical next-generation sequencing enabling next-generation targeted therapy trials.
Hyman David M et al. Drug Discov. Today 2015 Aug 27. -
Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
Saam Jennifer 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 Andrea et al. BMC Cancer 2015 15(1) 605 -
Counselees' Expressed Level of Understanding of the Risk Estimate and Surveillance Recommendation are Not Associated with Breast Cancer Surveillance Adherence.
Albada Akke et al. J Genet Couns 2015 Sep 1. -
The Influence of Screening for Precancerous Lesions on Family-Based Genetic Association Tests: An Example of Colorectal Polyps and Cancer.
Schmit Stephanie L et al. Am. J. Epidemiol. 2015 Aug 24. -
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 Keith E et al. Arch. Pathol. Lab. Med. 2015 Sep 139(9) 1115-24 -
EGFR mutation testing of lung cancer patients - Experiences from Vestfold Hospital Trust.
Berg Janna et al. Acta Oncol 2015 Aug 27. 1-7 -
The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.
Zupan Andrej et al. Exp. Mol. Pathol. 2015 Aug 27.
Chronic Disease
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Are statins bad for me? Personalized medicine can't yet say,
NPR, Sep 1, 2015 -
PCSK9 inhibitor dramatically reduces cholesterol in patients with familial hypercholesterolemia,
European Society of Cardiology 2015 Conference Coverage, Sep 1 -
Challenges in the care of familial hypercholesterolemia: a community care perspective.
Brett Tom 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 Abdullah et al. Curr Vasc Pharmacol 2015 Aug 27.
Practice
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Developing the Scientific Infrastructure to Produce Ethnogenetically-Specific Personalized Medicine.
Ehrlich Garth D et al. Genet Test Mol Biomarkers 2015 Aug 26. -
What your genetic blueprint says about you: the rise of epigenetics,
by Dr. David Samadi, Huffington Blog Post, Aug 28, 2015 -
Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative.
Schmidlen Tara J et al. J Genet Couns 2015 Aug 27. -
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 Lada et al. Public Health Genomics 2015 Aug 28. -
Direct-to-Consumer Genetic Testing: A Systematic Review of European Guidelines, Recommendations, and Position Statements.
Rafiq Muhammad et al. Genet Test Mol Biomarkers 2015 Aug 27. -
A Health Literacy Program Using Family Health History for Young Black Rural Students: Implications for Reducing Health Disparities.
Foster Pamela Payne et al. J Health Care Poor Underserved 2015 26(3) 662-7
Newborn Screening
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Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
Lisi Emily C et al. J Genet Couns 2015 Aug 29.
Reproductive Health
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Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.
Minear Mollie A et al. Annu Rev Genomics Hum Genet 2015 Aug 24. 16369-398
News/ Reviews/Comments
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US agencies plan research ethics overhaul,
by Heidi Ledford, Nature News, September 3, 2015 -
Obesity raises Lynch syndrome CRC risk,
News-Medical.net, Aug 27, 2015 -
Direct-to-consumer genetic testing: Will it go away?
By Patricia Fitzpatrick Dimond, GEN, Sep 1, 2015 -
Giant study poses DNA data-sharing dilemma,
by Sara Reardon, Nature News, Sep 1, 2015 -
New guidelines for cancer doctors aim to make sense of gene tests,
by Julie Steenhuysen, Reuters, Aug 31, 2015 -
The possibility-and pitfalls-of precision medicine,
by Aine O'Connor, St. Louis Public Radio, Aug 25, 2015 -
Web exclusive: Scientists are looking to genetics to find a cause of OCD,
BBC, Aug 25, 2015 -
Whole genome? [PDF 123.86 KB]
Nature Genetics Vol 47 #9 2015 Sep -
Incorporating Genomic Sequencing, Genetic Counseling into Pediatric Cancer Treatment Shows Benefit,
JAMA Network, Sep 1, 2015 -
ASCO updates policy on cancer susceptibility genomic testing,
Genome Web, Aug 31, 2015 [by free subscription only] -
ESC recommends DNA analysis in post mortems of young sudden death victims,
EurekAlert, Aug 29, 2015 -
Recruitment begins on major genetics project,
National Institute for Health Research, Aug 27, 2015 -
Personal responsibility.
Nature 2015 9 0. (7567) 5.Nature 2015 9 0. (7567) 5