FOCUS
Psychosocial aspects of advancing genetics
The great strides in advancing resolution in genetic diagnosis, largely due to molecular techniques with nextgen sequencing as trailblazer, is fuelling the debate on the discordance between resolution and precision. Somewhere between those two lies the holy grail of patient benefit. Do we need to find everything, and can we, already. And then, do we need to tell it all? Do our traditional values still hold? Screening and diagnostics are converging at high speed, but still not at the same point on the horizon, it seems. Follow the contributions to this debate in your EJHG.
News and Commentaries
Limits of DTC
Direct-to-consumer genetic testing services: what are the medical benefits? FREE
Thierry Frebourg
Eur J Hum Genet 20: 483; advance online publication, January 4, 2012; doi:10.1038/ejhg.2011.229
Carrier identification in newborn screening
Newborn screening for sickle cell disease: whose reproductive benefit? FREE
Lainie Friedman Ross
Eur J Hum Genet 20: 484-485; advance online publication, November 9, 2011; doi:10.1038/ejhg.2011.191
Letter
Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics? FREE
Yvonne Bombard and Fiona A Miller
Eur J Hum Genet 20: 486-487; advance online publication, February 29, 2012; doi:10.1038/ejhg.2012.25
Review
Breast cancer susceptibility: current knowledge and implications for genetic counselling FREE
Tim Ripperger, Dorothea Gadzicki, Alfons Meindl and Brigitte Schlegelberger
Eur J Hum Genet 17: 722-731; advance online publication, December 17, 2008; doi:10.1038/ejhg.2008.212
Articles
Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations EJHGOpen
Claire Julian-Reynier, Julien Mancini, Emmanuelle Mouret-Fourme, Marion Gauthier-Villars, Valérie Bonadona, Pascaline Berthet, Jean-Pierre Fricker, Olivier Caron, Elisabeth Luporsi and Catherine Noguès
Eur J Hum Genet 19: 500-506; advance online publication, January 26, 2011; doi:10.1038/ejhg.2010.241
Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec FREE
Michel Dorval, Catherine Noguès, Pascaline Berthet, Jocelyne Chiquette, Marion Gauthier-Villars, Christine Lasset, Claude Picard, Marie Plante, INHERIT BRCAs, GENEPSO Cohort, Jacques Simard and Claire Julian-Reynier
Eur J Hum Genet 19: 494-499; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.227
Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders
Yvonne Bombard, Fiona A Miller, Robin Z Hayeems, Brenda J Wilson, June C Carroll, Martha Paynter, Julian Little, Judith Allanson, Jessica P Bytautas and Pranesh Chakraborty
Eur J Hum Genet 20: 498-504; advance online publication, November 9, 2011; doi:10.1038/ejhg.2011.188
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, Elizabeth Varley, Joanna Craven, Katrina J Allen, Lyle C Gurrin, Maryanne Aitken, M Kaye Trembath, Lyndal Bond, Gabrielle R Wilson, Sarah EM Stephenson, Ivan Macciocca, Chriselle Hickerton, Paul J Lockhart and Sylvia A Metcalfe
Eur J Hum Genet 20: 505-509; advance online publication, January 11, 2012; doi:10.1038/ejhg.2011.247
Genotype and cognitive phenotype of patients with tuberous sclerosis complex
Agnies M van Eeghen, Margaux E Black, Margaret B Pulsifer, David J Kwiatkowski and Elizabeth A Thiele
Eur J Hum Genet 20: 510-515; advance online publication, December 21, 2011; doi:10.1038/ejhg.2011.241
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
Diana Wellesley, Helen Dolk, Patricia A Boyd, Ruth Greenlees, Martin Haeusler, Vera Nelen, Ester Garne, Babak Khoshnood, Berenice Doray, Anke Rissmann, Carmel Mullaney, Elisa Calzolari, Marian Bakker, Joaquin Salvador, Marie-Claude Addor, Elizabeth Draper, Judith Rankin and David Tucker
Eur J Hum Genet 20: 521-526; advance online publication, January 11, 2012; doi:10.1038/ejhg.2011.246
Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers
Brandie Heald, Emily Edelman and Charis Eng
Eur J Hum Genet 20: 547-551; advance online publication, January 4, 2012; doi:10.1038/ejhg.2011.224
Short Reports
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
Femme Harinck, Irma Kluijt, Saskia E van Mil, Quinten Waisfisz, Theo AM van Os, Cora M Aalfs, Anja Wagner, Maran Olderode-Berends, Rolf H Sijmons, Ernst J Kuipers, Jan-Werner Poley, Paul Fockens and Marco J Bruno
Eur J Hum Genet 20: 577-579; advance online publication, December 14, 2011; doi:10.1038/ejhg.2011.226
Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis
Margot G F van Lier, Susanne E Korsse, Elisabeth M H Mathus-Vliegen, Ernst J Kuipers, Ans M W van den Ouweland, Kathleen Vanheusden, Monique E van Leerdam and Anja Wagner
Eur J Hum Genet 20: 236-239; advance online publication, August 10, 2011; doi:10.1038/ejhg.2011.152
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