TABLE OF CONTENTS

Volume 19, Issue 5 (May 2017)

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Research Highlights

In This Issue FREE

Genet Med 19: 487-488; doi:10.1038/gim.2017.51

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Commentaries

The need for a next-generation public health response to rare diseases

Rodolfo Valdez MSc, PhD, Scott D. Grosse PhD and Muin J. Khoury MD, PhD

Genet Med 19: 489-490; advance online publication, October 27, 2016; doi:10.1038/gim.2016.166

Mastering genomic terminology

Gail P. Jarvik and James P. Evans

Genet Med 19: 491-492; advance online publication, September 22, 2016; doi:10.1038/gim.2016.139

Ethical considerations for genetic testing in the context of mandated cardiac screening before athletic participation

Emma F. Magavern MD, Lauren Badalato MD, Gherardo Finocchiaro MD and Pascal Borry PhD

Genet Med 19: 493-495; advance online publication, September 22, 2016; doi:10.1038/gim.2016.146

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Original Research Articles

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

Sami S. Amr PhD, Saeed H. Al Turki PhD, Matthew Lebo PhD, Mahdi Sarmady PhD, Heidi L. Rehm PhD and Ahmad N. Abou Tayoun PhD

Genet Med 19: 496-504; advance online publication, September 22, 2016; doi:10.1038/gim.2016.134

Improving biobank consent comprehension: a national randomized survey to assess the effect of a simplified form and review/retest intervention Open

Laura M. Beskow MPH, PhD, Li Lin MS, Carrie B. Dombeck MA, Emily Gao BA and Kevin P. Weinfurt PhD

Genet Med 19: 505-512; advance online publication, October 13, 2016; doi:10.1038/gim.2016.157

All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms

Linnea I. Laestadius PhD, MPP, Jennifer R. Rich MPH and Paul L. Auer PhD

Genet Med 19: 513-520; advance online publication, September 22, 2016; doi:10.1038/gim.2016.136

Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

Jonas Ghouse MD, Christian T. Have MSc, PhD, Morten W. Skov MD, Laura Andreasen MD, Gustav Ahlberg MSc, Jonas B. Nielsen MD, PhD, Tea Skaaby MD, PhD, Søren-Peter Olesen MD, DMSc, Niels Grarup MD, PhD, Allan Linneberg MD, PhD, Oluf Pedersen MD, DMSc, Henrik Vestergaard MD, DMSc, Stig Haunsø MD, DMSc, Jesper H. Svendsen MD, DMSc, Torben Hansen MD, PhD, Jørgen K. Kanters MD and Morten S. Olesen MSc, PhD

Genet Med 19: 521-528; advance online publication, October 6, 2016; doi:10.1038/gim.2016.151

Experiences from a pilot program bringing BRCA1/2 genetic screening to the
US Ashkenazi Jewish population

Chana Wiesman MS, Esther Rose MS, Allison Grant BS, Adam Zimilover BA, Susan Klugman MD and Nicole Schreiber-Agus PhD

Genet Med 19: 529-536; advance online publication, October 13, 2016; doi:10.1038/gim.2016.154

Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study

Deanna Alexis Carere ScD, CGC, Tyler J. VanderWeele PhD, Jason L. Vassy MD, MPH, SM, Cathelijne H. van der Wouden PharmD, J. Scott Roberts PhD, Peter Kraft PhD and Robert C. Green MD, MPH ; for the PGen Study Group

Genet Med 19: 537-545; advance online publication, September 22, 2016; doi:10.1038/gim.2016.141

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort Open

Caroline E. Walker BSc(Hons), PhD, Trinity Mahede BSc(Hons), MPH, Geoff Davis BA(Hons), PGDipPH, Laura J. Miller MA, PhD, Jennifer Girschik PhD, Kate Brameld BSc(Hons), PhD, Wenxing Sun BHlthSc, GDipBiostats, Ana Rath MD, Ségolène Aymé MD, PhD, Stephen R. Zubrick MSc, PhD, Gareth S. Baynam FRACP, PhD, Caron Molster BBus(Hons), Hugh J.S. Dawkins BSc(Hons), PhD and Tarun S. Weeramanthri PhD, FRACP

Genet Med 19: 546-552; advance online publication, September 22, 2016; doi:10.1038/gim.2016.143

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss

Dong-Ye Chen MD, Xing-Feng Liu PhD, Xiao-Jiang Lin MD, Dan Zhang MD, Yong-Chuan Chai MD, De-Hong Yu PhD, Chang-Ling Sun MS, Xue-Ling Wang MS, Wei-Dong Zhu MS, Ying Chen MD, Lian-Hua Sun MS, Xiao-Wen Wang BS, Fu-Xin Shi PhD, Zhi-Wu Huang PhD, Tao Yang PhD and Hao Wu PhD, MD

Genet Med 19: 553-558; advance online publication, September 22, 2016; doi:10.1038/gim.2016.142

Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening

Andrew P. Dervan MD, MBA, Patricia A. Deverka MD, MS, Julia R. Trosman PhD, MBA, Christine B. Weldon MBA, Michael P. Douglas MS and Kathryn A. Phillips PhD

Genet Med 19: 559-567; advance online publication, September 22, 2016; doi:10.1038/gim.2016.145

Universal tumor screening for Lynch syndrome: health-care providers’ perspectives

Yvonne Bombard PhD, Linda Rozmovits DPhil, Anne Sorvari BA, Corinne Daly MSc, June C. Carroll MD, Erin Kennedy MD, PhD, Linda Rabeneck MD, MPH and Nancy N. Baxter MD, PhD

Genet Med 19: 568-574; advance online publication, October 6, 2016; doi:10.1038/gim.2016.150

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Julianne M. O’Daniel MS, Heather M. McLaughlin PhD, Laura M. Amendola MS, Sherri J. Bale PhD, Jonathan S. Berg MD, PhD, David Bick MD, Kevin M. Bowling PhD, Elizabeth C. Chao MD, Wendy K. Chung MD, Laura K. Conlin PhD, Gregory M. Cooper PhD, Soma Das PhD, Joshua L. Deignan PhD, Michael O. Dorschner PhD, James P. Evans MD, PhD, Arezou A. Ghazani PhD, Katrina A. Goddard PhD, Michele Gornick PhD, Kelly D. Farwell Hagman MS, Tina Hambuch PhD, Madhuri Hegde PhD, Lucia A. Hindorff PhD, MPH, Ingrid A. Holm MD, MPH, Gail P. Jarvik MD, PhD, Amy Knight Johnson MS, Lindsey Mighion MS, Massimo Morra MD, PhD, Sharon E. Plon MD, PhD, Sumit Punj PhD, C. Sue Richards PhD, Avni Santani PhD, Brian H. Shirts MD, PhD, Nancy B. Spinner PhD, Sha Tang PhD, Karen E. Weck MD, Susan M. Wolf JD, Yaping Yang PhD and Heidi L. Rehm PhD

Genet Med 19: 575-582; advance online publication, November 3, 2016; doi:10.1038/gim.2016.152

A comprehensive strategy for exome-based preconception carrier screening Open

Suzanne C.E.H. Sallevelt MD, Bart de Koning PhD, Radek Szklarczyk PhD, Aimee D.C. Paulussen PhD, Christine E.M. de Die-Smulders MD, PhD and Hubert J.M. Smeets PhD

Genet Med 19: 583-592; advance online publication, October 27, 2016; doi:10.1038/gim.2016.153

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen and Fowzan S. Alkuraya

Genet Med 19: 593-598; advance online publication, October 6, 2016; doi:10.1038/gim.2016.155

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Brief Report

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

Taru A. Muranen MSc, Dario Greco PhD, Carl Blomqvist MD, PhD, Kristiina Aittomäki MD, PhD, Sofia Khan PhD, Frans Hogervorst PhD, Senno Verhoef MD, Paul D.P. Pharoah MB, BCh, Alison M. Dunning PhD, Mitul Shah MSc, Robert Luben BS, Stig E. Bojesen MD, PhD, Børge G. Nordestgaard MD, DMSc, Minouk Schoemaker PhD, Anthony Swerdlow DM, DSc, Montserrat García-Closas PhD, Jonine Figueroa PhD, Thilo Dörk PhD, Natalia V. Bogdanova PhD, Per Hall MD, Jingmei Li PhD, Elza Khusnutdinova MD, Marina Bermisheva PhD, Vessela Kristensen PhD, Anne-Lise Borresen-Dale PhD, NBCS Investigators, Julian Peto PhD, Isabel dos Santos Silva PhD, Fergus J. Couch PhD, Janet E. Olson PhD, Peter Hillemans PhD, Tjoung-Won Park-Simon MD, Hiltrud Brauch PhD, Ute Hamann PhD, Barbara Burwinkel PhD, Frederik Marme MD, Alfons Meindl PhD, Rita K. Schmutzler MD, Angela Cox PhD, Simon S. Cross MD, Elinor J. Sawyer PhD, Ian Tomlinson PhD, Diether Lambrechts PhD, Matthieu Moisse PhD, Annika Lindblom MD, Sara Margolin MD, Antoinette Hollestelle PhD, John W.M. Martens PhD, Peter A. Fasching MD, Matthias W. Beckmann MD, Irene L. Andrulis PhD, Julia A. Knight PhD, kConFab/AOCS Investigators, Hoda Anton-Culver PhD, Argyrios Ziogas PhD, Graham G. Giles PhD, Roger L. Milne PhD, Hermann Brenner MD, MPH, Volker Arndt MD, MPH, Arto Mannermaa PhD, Veli-Matti Kosma MD, Jenny Chang-Claude PhD, Anja Rudolph PhD, Peter Devilee PhD, Caroline Seynaeve MD, PhD, John L. Hopper PhD, Melissa C. Southey PhD, Esther M. John PhD, Alice S. Whittemore PhD, Manjeet K. Bolla MSc, Qin Wang MSc, Kyriaki Michailidou PhD, Joe Dennis MSc, Douglas F. Easton PhD, Marjanka K. Schmidt PhD and Heli Nevanlinna PhD on behalf of the Breast Cancer Association Consortium

Genet Med 19: 599-603; advance online publication, October 6, 2016; doi:10.1038/gim.2016.147

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Letter to the Editors

ACMG secondary findings 2.0 FREE

Leslie G Biesecker

Genet Med 19: 604; advance online publication, April 13, 2017; doi:10.1038/gim.2017.27

Response to Biesecker FREE

David T Miller and Christa L Martin

Genet Med 19: 605; advance online publication, April 13, 2017; doi:10.1038/gim.2017.25

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Corrigendum

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing FREE

Robert C Green MD, MPH, Jonathan S Berg MD, PhD, Wayne W Grody MD, PhD, Sarah S Kalia ScM, CGC, Bruce R Korf MD, PhD, Christa L Martin PhD, FACMG, Amy L McGuire JD, PhD, Robert L Nussbaum MD, Julianne M O'Daniel MS, CGC, Kelly E Ormond MS, CGC, Heidi L Rehm PhD, FACMG, Michael S Watson PhD, FACMG, Marc S Williams MD, FACMG and Leslie G Biesecker MD

Genet Med 19: 606; doi:10.1038/gim.2017.18

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