Genetics in Medicine contents: Volume 18, Issue 2

TABLE OF CONTENTS Volume 18, Issue 2 (February 2016) In this issue Research Highlights Reviews Commentaries Original Research Articles Education Report Brief Report ACMG Policy Statement Letters to the Editor Retraction Podcast Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement Genomics of Rare Disease: Beyond the Exome 2016 (13-15 April 2016)  This conference will present an exciting blend of genomic science and clinical medicine and provide a forum for clinicians and scientists interested in human genomic variation and the mechanisms by which it exerts its phenotypic effects. Deadlines: bursary: 16 Feb, abstract: 1 Mar, registration: 15 Mar Advertisement New Web Focus — Children and Genetic Testing The nature of genetic information, with its inherent implications and inherent uncertainty about future health, poses specific and serious challenges to its application in children. When should children be notified of their genetic status? How much consideration should be given to the desires of parents, and how should clinicians navigate the complex issue of potentially "foreclosing" future decision-making by children?  Click here to take a look at this special curated collection of articles from Genetics in Medicine   Research Highlights Top In this Issue Genet Med 2016 18: 109; 10.1038/gim.2015.209 Full Text News Briefs Genet Med 2016 18: 109-110; 10.1038/gim.2015.215 Full Text Reviews Top Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review Michael P. Douglas, Uri Ladabaum, Mark J. Pletcher, Deborah A. Marshall and Kathryn A. Phillips Genet Med 2016 18: 111-116; advance online publication, May 21, 2015; 10.1038/gim.2015.69 Abstract | Full Text Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? OPEN Beth K. Potter, Sara D. Khangura, Kylie Tingley, Pranesh Chakraborty and Julian Little ; in collaboration with the Canadian Inherited Metabolic Diseases Research Network Genet Med 2016 18: 117-123; advance online publication, April 9, 2015; 10.1038/gim.2015.42 Abstract | Full Text Commentaries Top With great (participant) rights comes great (researcher) responsibility Gail E. Henderson Genet Med 2016 18: 124-125; advance online publication, May 7, 2015; 10.1038/gim.2015.67 Full Text State-offered ethnically targeted reproductive genetic testing Ellen Wright Clayton and Kyle B. Brothers Genet Med 2016 18: 126-127; advance online publication, June 4, 2015; 10.1038/gim.2015.74 Full Text Original Research Articles Top A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer OPEN Mahadeo A. Sukhai, Kenneth J. Craddock, Mariam Thomas, Aaron R. Hansen, Tong Zhang, Lillian Siu, Philippe Bedard, Tracy L. Stockley and Suzanne Kamel-Reid Genet Med 2016 18: 128-136; advance online publication, April 16, 2015; 10.1038/gim.2015.47 Abstract | Full Text Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial Marijke R. Wevers, Margreet G. E. M. Ausems, Senno Verhoef, Eveline M. A. Bleiker, Daniela E. E. Hahn, Titia Brouwer, Frans B. L. Hogervorst, Rob B. van der Luijt, Thijs van Dalen, Evert B. Theunissen, Bart van Ooijen, Marnix A. de Roos, Paul J. Borgstein, Bart C. Vrouenraets, Eline Vriens, Wim H. Bouma, Herman Rijna, Johannes P. Vente, Jacobien M. Kieffer, Heiddis B. Valdimarsdottir, , Emiel J. Th. Rutgers, Arjen J. Witkamp and Neil K. Aaronson Genet Med 2016 18: 137-144; advance online publication, April 23, 2015; 10.1038/gim.2015.50 Abstract | Full Text Cystic fibrosis carrier screening effects on birth prevalence and newborn screening Carlo Castellani, Luigi Picci, Gloria Tridello, Elia Casati, Anna Tamanini, Lucia Bartoloni, Maurizio Scarpa and Baroukh M. Assael , the Veneto CF Lab Network Genet Med 2016 18: 145-151; advance online publication, June 18, 2015; 10.1038/gim.2015.68 Abstract | Full Text Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators OPEN Jennifer L. Schneider, James Davis, Tia L. Kauffman, Jacob A. Reiss, Cheryl McGinley, Kathleen Arnold, Jamilyn Zepp, Marian Gilmore, Kristin R. Muessig, Sapna Syngal, Louise Acheson, Georgia L. Wiesner, Susan K. Peterson and Katrina A. B. Goddard Genet Med 2016 18: 152-161; advance online publication, April 16, 2015; 10.1038/gim.2015.43 Abstract | Full Text Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening Derek Wong, Silvia Tortorelli, Lisa Bishop, Elizabeth A. Sellars, Lisa A. Schimmenti, Natalie Gallant, Carlos E. Prada, Robert J. Hopkin, Nancy D. Leslie, Susan A. Berry, David S. Rosenblatt, Amy L. Fair, Dietrich Matern, Kimiyo Raymond, Devin Oglesbee, Piero Rinaldo and Dimitar Gavrilov Genet Med 2016 18: 162-167; advance online publication, April 9, 2015; 10.1038/gim.2015.45 Abstract | Full Text Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability OPEN Rolph Pfundt, Kat Kwiatkowski, Alan Roter, Anju Shukla, Eric Thorland, Richard Hockett, Barbara DuPont, Eric T. Fung and Alka Chaubey Genet Med 2016 18: 168-173; advance online publication, April 16, 2015; 10.1038/gim.2015.51 Abstract | Full Text Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk OPEN Regine M. Lim, Ari J. Silver, Maxwell J. Silver, Carlos Borroto, Brett Spurrier, Tanya C. Petrossian, Jessica L. Larson and Lee M. Silver Genet Med 2016 18: 174-179; advance online publication, April 16, 2015; 10.1038/gim.2015.52 Abstract | Full Text Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics Natsuki Matsunoshita, Kandai Nozu, Akemi Shono, Yoshimi Nozu, Xue Jun Fu, Naoya Morisada, Naohiro Kamiyoshi, Hiromi Ohtsubo, Takeshi Ninchoji, Shogo Minamikawa, Tomohiko Yamamura, Koichi Nakanishi, Norishige Yoshikawa, Yuko Shima, Hiroshi Kaito and Kazumoto Iijima Genet Med 2016 18: 180-188; advance online publication, April 16, 2015; 10.1038/gim.2015.56 Abstract | Full Text Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect OPEN Lisa C. A. D’Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, Dorin Manase, Barbara J. M. Mulder, Lynn Bergin, Herschel C. Rosenberg, Tapas Mondal, Elaine Gordon, Jane Lougheed, John Smythe, Koen Devriendt, Shoumo Bhattacharya, Hugh Watkins, Jamie Bentham, Sarah Bowdin, Matthew E. Hurles and Seema Mital UK10K Consortium Genet Med 2016 18: 189-198; advance online publication, May 21, 2015; 10.1038/gim.2015.60 Abstract | Full Text Education Report Top Efficacy of a medical genetics rotation during pediatric training Joanne Nguyen, Jennifer Lemons, Sharon Crandell and Hope Northrup Genet Med 2016 18: 199-202; advance online publication, May 14, 2015; 10.1038/gim.2015.65 Abstract | Full Text Brief Report Top The Israeli national population program of genetic carrier screening for reproductive purposes Joël Zlotogora, Itamar Grotto, Ehud Kaliner and Ronni Gamzu Genet Med 2016 18: 203-206; advance online publication, April 16, 2015; 10.1038/gim.2015.55 Abstract | Full Text ACMG Policy Statement Top Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics ACMG Board of Directors1 Genet Med 2016 18: 207-208; advance online publication, December 17, 2015; 10.1038/gim.2015.190 Abstract | Full Text Letters to the Editor Top Bias in CFTR screening panels Patrick R. Sosnay, Carlo Castellani, Christopher M. Penland, Johanna M. Rommens, Michelle Lewis, Karen S. Raraigh, Mary Corey and Garry R. Cutting Genet Med 2016 18: 209; advance online publication, October 29, 2015; 10.1038/gim.2015.105 Full Text Response to Sosnay et al. Jessica L. Larson, Regine M. Lim, Ari J. Silver, Maxwell J. Silver, Carlos Borroto, Brett Spurrier, Tanya C. Petrossian and Lee M. Silver Genet Med 2016 18: 209-210; advance online publication, October 29, 2015; 10.1038/gim.2015.106 Full Text Retraction Top Retraction notice for: “Validation of a multiplex genotyping platform using a novel genomic database approach” Genet Med 2016 18: 211; advance online publication, October 22, 2015; 10.1038/gim.2015.163 Full Text Podcast Top Podcast FREE Podcast Advertisement Visit us at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting  Pick up complimentary copies of Genetics in Medicine and other top Nature journals at booth #826 in Tampa, Florida - March 8-12th. We will also have free giveaways and an opportunity to hear the latest GenePod from Editor-in-Chief Jim Evans talking about the ACMG 25th anniversary.   You have been sent this Table of Contents Alert because you have opted in to receive it. 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