Literature DB >> 30568242

Recontacting clinical genetics patients with reclassified results: equity and policy challenges.

Yvonne Bombard1,2, Chloe Mighton3,4.   

Abstract

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Year:  2019        PMID: 30568242      PMCID: PMC6460896          DOI: 10.1038/s41431-018-0313-1

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


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  10 in total

1.  When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing.

Authors:  Leila Jamal; Jill O Robinson; Kurt D Christensen; Jennifer Blumenthal-Barby; Melody J Slashinski; Denise Lautenbach Perry; Jason L Vassy; Julia Wycliff; Robert C Green; Amy L McGuire
Journal:  AJOB Empir Bioeth       Date:  2017-01-27

2.  Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Authors:  Thomas P Slavin; Lily R Van Tongeren; Carolyn E Behrendt; Ilana Solomon; Christina Rybak; Bita Nehoray; Lili Kuzmich; Mariana Niell-Swiller; Kathleen R Blazer; Shu Tao; Kai Yang; Julie O Culver; Sharon Sand; Danielle Castillo; Josef Herzog; Stacy W Gray; Jeffrey N Weitzel
Journal:  J Natl Cancer Inst       Date:  2018-10-01       Impact factor: 13.506

3.  Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Authors:  Fabio Sirchia; Daniele Carrieri; Sandi Dheensa; Caroline Benjamin; Hülya Kayserili; Christophe Cordier; Carla G van El; Peter D Turnpenny; Bela Melegh; Álvaro Mendes; Tanya F Halbersma-Konings; Irene M van Langen; Anneke M Lucassen; Angus J Clarke; Francesca Forzano; Susan E Kelly
Journal:  Eur J Hum Genet       Date:  2018-04-23       Impact factor: 4.246

4.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

5.  Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

Authors:  A Finch; M Wang; A Fine; L Atri; S Khalouei; M Pupavac; B Rosen; A Eisen; C Elser; G Charames; K Metcalfe; M C Chang; S A Narod; J Lerner-Ellis
Journal:  Clin Genet       Date:  2015-08-31       Impact factor: 4.438

6.  Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.

Authors:  Gea Beunders; Melodi Dekker; Oscar Haver; Hanne J Meijers-Heijboer; Lidewij Henneman
Journal:  Eur J Med Genet       Date:  2017-11-27       Impact factor: 2.708

Review 7.  Translating genomics in cancer care.

Authors:  Yvonne Bombard; Peter B Bach; Kenneth Offit
Journal:  J Natl Compr Canc Netw       Date:  2013-11       Impact factor: 11.908

8.  Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom.

Authors:  Daniele Carrieri; Sandi Dheensa; Shane Doheny; Angus J Clarke; Peter D Turnpenny; Anneke M Lucassen; Susan E Kelly
Journal:  Eur J Hum Genet       Date:  2017-01-04       Impact factor: 4.246

9.  Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Authors:  Daniele Carrieri; Heidi C Howard; Caroline Benjamin; Angus J Clarke; Sandi Dheensa; Shane Doheny; Naomi Hawkins; Tanya F Halbersma-Konings; Leigh Jackson; Hülya Kayserili; Susan E Kelly; Anneke M Lucassen; Álvaro Mendes; Emmanuelle Rial-Sebbag; Vigdís Stefánsdóttir; Peter D Turnpenny; Carla G van El; Irene M van Langen; Martina C Cornel; Francesca Forzano
Journal:  Eur J Hum Genet       Date:  2018-10-11       Impact factor: 4.246

10.  Recontacting in clinical practice: the views and expectations of patients in the United Kingdom.

Authors:  Daniele Carrieri; Sandi Dheensa; Shane Doheny; Angus J Clarke; Peter D Turnpenny; Anneke M Lucassen; Susan E Kelly
Journal:  Eur J Hum Genet       Date:  2017-08-02       Impact factor: 4.246

  10 in total
  3 in total

Review 1.  Recontacting in medical genetics: the implications of a broadening knowledge base.

Authors:  Shane Doheny
Journal:  Hum Genet       Date:  2021-08-30       Impact factor: 5.881

2.  Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.

Authors:  Julia El Mecky; Lennart Johansson; Mirjam Plantinga; Angela Fenwick; Anneke Lucassen; Trijnie Dijkhuizen; Annemieke van der Hout; Kate Lyle; Irene van Langen
Journal:  BMC Med Genomics       Date:  2019-11-29       Impact factor: 3.063

3.  Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.

Authors:  Chloe Mighton; Salma Shickh; Elizabeth Uleryk; Petros Pechlivanoglou; Yvonne Bombard
Journal:  Genet Med       Date:  2020-09-14       Impact factor: 8.822

  3 in total

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