Literature DB >> 22223063

A family experience of personal genomics.

Manuel Corpas1.   

Abstract

This article presents a personal journey of a close-knit family from Málaga, Spain who engaged with direct-to-consumer (DTC) genomic testing. Whilst the testing was initiated by one member of the family who works as a genome bioinformatician, none of the remaining family had any prior experience with DTC genetic testing. A thoughtful account, written in the first person, is offered on the experience of genome testing across the various members of the family together with a reflection on how it felt to be a custodian of the 'family genome'. The way the family processed their genome information is explored and the difficulties and challenges that resulted are discussed. Whilst there is a wealth of literature that describes how families communicate information surrounding single genes, there is very little which explores the experience of communication about whole, shared genomes. The experiences described in this paper provide an insight into this new territory.

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Year:  2012        PMID: 22223063     DOI: 10.1007/s10897-011-9473-7

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  2 in total

1.  Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility.

Authors:  Hong Lou; Meredith Yeager; Hongchuan Li; Jesus Gonzalez Bosquet; Richard B Hayes; Nick Orr; Kai Yu; Amy Hutchinson; Kevin B Jacobs; Peter Kraft; Sholom Wacholder; Nilanjan Chatterjee; Heather Spencer Feigelson; Michael J Thun; W Ryan Diver; Demetrius Albanes; Jarmo Virtamo; Stephanie Weinstein; Jing Ma; J Michael Gaziano; Meir Stampfer; Fredrick R Schumacher; Edward Giovannucci; Geraldine Cancel-Tassin; Olivier Cussenot; Antoine Valeri; Gerald L Andriole; E David Crawford; Stephen K Anderson; Margaret Tucker; Robert N Hoover; Joseph F Fraumeni; Gilles Thomas; David J Hunter; Michael Dean; Stephen J Chanock
Journal:  Proc Natl Acad Sci U S A       Date:  2009-04-21       Impact factor: 11.205

2.  myKaryoView: a light-weight client for visualization of genomic data.

Authors:  Rafael C Jimenez; Gustavo A Salazar; Bernat Gel; Joaquin Dopazo; Nicola Mulder; Manuel Corpas
Journal:  PLoS One       Date:  2011-10-26       Impact factor: 3.240

  2 in total
  10 in total

1.  Genomic counseling: next generation counseling.

Authors:  Rachel Mills; Susanne B Haga
Journal:  J Genet Couns       Date:  2013-09-12       Impact factor: 2.537

Review 2.  Ancestry Testing and the Practice of Genetic Counseling.

Authors:  Brianne E Kirkpatrick; Misha D Rashkin
Journal:  J Genet Couns       Date:  2016-10-04       Impact factor: 2.537

3.  Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies.

Authors:  J Scott Roberts; Jenny Ostergren
Journal:  Curr Genet Med Rep       Date:  2013-09

4.  Crowdsourcing the corpasome.

Authors:  Manuel Corpas
Journal:  Source Code Biol Med       Date:  2013-06-21

5.  23andMe: a new two-sided data-banking market model.

Authors:  Henri-Corto Stoeklé; Marie-France Mamzer-Bruneel; Guillaume Vogt; Christian Hervé
Journal:  BMC Med Ethics       Date:  2016-03-31       Impact factor: 2.652

6.  Implementation of individualised polygenic risk score analysis: a test case of a family of four.

Authors:  Manuel Corpas; Karyn Megy; Antonio Metastasio; Edmund Lehmann
Journal:  BMC Med Genomics       Date:  2022-10-03       Impact factor: 3.622

7.  Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Authors:  Uta Francke; Cheri Dijamco; Amy K Kiefer; Nicholas Eriksson; Bianca Moiseff; Joyce Y Tung; Joanna L Mountain
Journal:  PeerJ       Date:  2013-02-12       Impact factor: 2.984

8.  Autobiologies on YouTube: Narratives of Direct-to-Consumer Genetic Testing.

Authors:  Anna Harris; Susan E Kelly; Sally Wyatt
Journal:  New Genet Soc       Date:  2014-03-07

Review 9.  Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review.

Authors:  Loredana Covolo; Sara Rubinelli; Elisabetta Ceretti; Umberto Gelatti
Journal:  J Med Internet Res       Date:  2015-12-14       Impact factor: 5.428

10.  German and Italian Users of Web-Accessed Genetic Data: Attitudes on Personal Utility and Personal Sharing Preferences. Results of a Comparative Survey (n=192).

Authors:  Sabine Wöhlke; Manuel Schaper; Serena Oliveri; Ilaria Cutica; Francesca Spinella; Gabriella Pravettoni; Daniela Steinberger; Silke Schicktanz
Journal:  Front Genet       Date:  2020-03-18       Impact factor: 4.599

  10 in total

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