Genetics in Medicine contents: Volume 17, Issue 1

TABLE OF CONTENTS Volume 17, Issue 1 (January 2015) In this issue Research Highlights Systematic Review Review Commentary Invited Commentary Original Research Article Education Report Brief Report ACMG Policy Statement ACMG Practice Guidelines Letter to the Editor Genetic Legacy Erratum Corrigendum Podcast Advertisement Genomic advances are revolutionizing our understanding of oncology. Over the past year, Genetics in Medicine has published articles of great relevance to oncologists and their patients, spanning the spectrum from rare cancers to common malignancies. In the new Focus on Oncology, the editors have selected pertinent articles that will be useful for practitioners in the field.   Research Highlights Top In This Issue Genet Med 2014 17: 1; 10.1038/gim.2014.186 Full Text News Briefs Genet Med 2014 17: 1-2; 10.1038/gim.2014.187 Full Text Systematic Review Top A systematic review and critical assessment of 11 discordant meta-analyses on reduced-function CYP2C19 genotype and risk of adverse clinical outcomes in clopidogrel users Ruben L. Osnabrugge, Stuart J. Head, Felix Zijlstra, Jurriën M. ten Berg, Myriam G. Hunink, A. Pieter Kappetein and A. Cecile J.W. Janssens Genet Med 2014 17: 3-11; advance online publication, June 19, 2014; 10.1038/gim.2014.76 Abstract | Full Text Review Top The translational potential of research on the ethical, legal, and social implications of genomics Wylie Burke, Paul Appelbaum, Lauren Dame, Patricia Marshall, Nancy Press, Reed Pyeritz, Richard Sharp and Eric Juengst Genet Med 2014 17: 12-20; advance online publication, June 19, 2014; 10.1038/gim.2014.74 Abstract | Full Text Commentary Top Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter? OPEN Antonio Pisani, Eleonora Riccio and Massimo Sabbatini Genet Med 2014 17: 21-23; advance online publication, July 10, 2014; 10.1038/gim.2014.79 Full Text Invited Commentary Top Is it time for BRCA1/2 mutation screening in the general adult population?: impact of population characteristics Glenn E. Palomaki Genet Med 2014 17: 24-26; advance online publication, November 6, 2014; 10.1038/gim.2014.167 Abstract | Full Text Original Research Articles Top Reporting genomic secondary findings: ACMG members weigh in Maren T. Scheuner, Jane Peredo, Judith Benkendorf, Bruce Bowdish, Gerald Feldman, Lynn Fleisher, John J. Mulvihill, Michael Watson, Gail E. Herman and James Evans Genet Med 2014 17: 27-35; advance online publication, November 13, 2014; 10.1038/gim.2014.165 Abstract | Full Text Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis Chinwe C. Madubata, Margaret A. Olsen, Dustin L. Stwalley, David H. Gutmann and Kimberly J. Johnson Genet Med 2014 17: 36-42; advance online publication, June 5, 2014; 10.1038/gim.2014.70 Abstract | Full Text Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system Cecelia A. Bellcross, Lucy A. Peipins, Frances A. McCarty, Juan L. Rodriguez, Nikki A. Hawkins, Sharon Hensley Alford and Steven Leadbetter Genet Med 2014 17: 43-50; advance online publication, June 19, 2014; 10.1038/gim.2014.68 Abstract | Full Text Differences in BRCA counseling and testing practices based on ordering provider type Deborah Cragun, Lucia Camperlengo, Emily Robinson, Meghan Caldwell, Jongphil Kim, Catherine Phelan, Alvaro N. Monteiro, Susan T. Vadaparampil, Thomas A. Sellers and Tuya Pal Genet Med 2014 17: 51-57; advance online publication, June 12, 2014; 10.1038/gim.2014.75 Abstract | Full Text Education Report Top Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys Laura J. Tafe, Michael B. Datto, Glenn E. Palomaki and Felicitas L. Lacbawan ; on behalf of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee Genet Med 2014 17: 58-62; advance online publication, June 19, 2014; 10.1038/gim.2014.77 Abstract | Full Text Brief Report Top Evidence synthesis and guideline development in genomic medicine: current status and future prospects Sheri D. Schully, Tram Kim Lam, W. David Dotson, Christine Q. Chang, Naomi Aronson, Marian L. Birkeland, Stephanie Jo Brewster, Stefania Boccia, Adam H. Buchanan, Ned Calonge, Kathleen Calzone, Benjamin Djulbegovic, Katrina A.B. Goddard, Roger D. Klein, Teri E. Klein, Joseph Lau, Rochelle Long, Gary H. Lyman, Rebecca L. Morgan, Christina G.S. Palmer, Mary V. Relling, Wendy S. Rubinstein, Jesse J. Swen, Sharon F. Terry, Marc S. Williams and Muin J. Khoury Genet Med 2014 17: 63-67; advance online publication, June 19, 2014; 10.1038/gim.2014.69 Abstract | Full Text ACMG Policy Statement Top ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing ACMG Board of Directors Genet Med 2014 17: 68-69; advance online publication, November 13, 2014; 10.1038/gim.2014.151 Abstract | Full Text ACMG Practice Guidelines Top A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment Heather Hampel, Robin L. Bennett, Adam Buchanan, Rachel Pearlman and Georgia L. Wiesner ; for a Guideline Development Group of the American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and of the National Society of Genetic Counselors Practice Guidelines Committee Genet Med 2014 17: 70-87; advance online publication, November 13, 2014; 10.1038/gim.2014.147 Abstract | Full Text Letter to the Editor Top Prenatal diagnosis in India is not limited to sex selection Ashwin B. Dalal, Prajnya Ranganath, Shubha R. Phadke, Madhulika Kabra, Sumita Danda, Ratna Dua Puri, Sankar V.H., Neerja Gupta, S.J. Patil, Kausik Mandal, Parag Tamhankar, Shagun Aggarwal and Meenal Agarwal Genet Med 2014 17: 88; 10.1038/gim.2014.149 Full Text Response to Dalal et al. Kamlesh Madan and Martijn H. Breuning Genet Med 2014 17: 89-90; 10.1038/gim.2014.150 Full Text Genetic Legacy Top Judith G. Hall: a genetic journey Judith G. Hall Genet Med 2014 17: 91-92; advance online publication, May 1, 2014; 10.1038/gim.2014.43 Full Text Erratum Top ERRATUM: Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy Genet Med 2014 17: 93; 10.1038/gim.2014.137 Full Text Corrigendum Top CORRIGENDUM: A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome Genet Med 2014 17: 93; 10.1038/gim.2014.168 Full Text Podcast Top Listen to the latest podcast here. Advertisement ACMG revises approach to secondary findings. Listen to the newest Genepod, the official podcast of Genetics in Medicine, to learn more about the recent revision in ACMG's recommendations on how to handle secondary findings when genome scale sequencing is performed.   You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For other enquiries, please contact our customer feedback department. 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