Literature DB >> 25408105

Communication is the key. : Part 2 : Direct to consumer genetics in our future daily life ?

Bernard Perbal1.   

Abstract

The considerable advances of genome sequencing over the past decades have had a profound impact on our daily life and opened up new avenues for the public to have access to their genetic information and learn more about their ancestry, genealogy and other traits that make each of us unique individuals. A very large number of individual single nucleotide polymorphisms (SNPs) have been associated to diseases whereas others have no known phenotype. For example, among the SNPs mapped within ccn1(cyr61), ccn2(ctgf), ccn3(nov), ccn4(wisp-1), ccn5(wisp-2) and ccn6 (wisp-3), only mutations within ccn4 were associated to PPD (the autosomal recessive skeletal disorder Progressive Pseudorheumatoid Dysplasia). On the occasion of this JCCS special issue on the roles of hormetic responses in adaptation, and response of living species to the modifications of their environment, it appeared that it was a good time to briefly review a topic that has been the subject of passionate discussions for the past few years, that is Direct to Consumer genetic tests (DTC GT). Based on the use of DNA analysis and identification of polymorphisms, DTC GT have been developed by several companies in the USA and in countries where there was no legal obstacle for customers to have direct access to their genetic information and manage their healthcare. Problems that arose and decisions that have been taken by regulatory agencies are presented and discussed in this editorial. The « freeze » of health-oriented DTC GT in the USA neither implies the end of DNA analysis nor « fun » applications, which are not aimed at providing risks estimates for particular illnesses. As shown in the example which is discussed in this editorial, DTC GT for cosmetic applications might be considered a fun application of great interest for companies such as L'Oréal, who recently developed the Makeup Genius mobile application. Other fun applications of DTC GT are discussed but there is no doubt that nothing will stop progress and it is most probable than within a few years from now all the tensions raised about these procedures will vanish to the profit and benefit of consumers. In any case, this will only be possible through an intensive communication effort, because …communication is the key !

Entities:  

Year:  2014        PMID: 25408105      PMCID: PMC4390803          DOI: 10.1007/s12079-014-0258-2

Source DB:  PubMed          Journal:  J Cell Commun Signal        ISSN: 1873-9601            Impact factor:   5.782


  27 in total

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Authors:  B Perbal
Journal:  Mol Pathol       Date:  2001-04

Review 2.  Clonal life cycle of Paramecium in the context of evolutionally acquired mortality.

Authors:  Y Takagi
Journal:  Prog Mol Subcell Biol       Date:  2000

3.  Complement factor H polymorphism in age-related macular degeneration.

Authors:  Robert J Klein; Caroline Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin Barnstable; Josephine Hoh
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

4.  Just the facts, please.

Authors:  Anne Wojcicki
Journal:  Nat Biotechnol       Date:  2013-12       Impact factor: 54.908

5.  A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.

Authors:  Thorlakur Jonsson; Jasvinder K Atwal; Stacy Steinberg; Jon Snaedal; Palmi V Jonsson; Sigurbjorn Bjornsson; Hreinn Stefansson; Patrick Sulem; Daniel Gudbjartsson; Janice Maloney; Kwame Hoyte; Amy Gustafson; Yichin Liu; Yanmei Lu; Tushar Bhangale; Robert R Graham; Johanna Huttenlocher; Gyda Bjornsdottir; Ole A Andreassen; Erik G Jönsson; Aarno Palotie; Timothy W Behrens; Olafur T Magnusson; Augustine Kong; Unnur Thorsteinsdottir; Ryan J Watts; Kari Stefansson
Journal:  Nature       Date:  2012-08-02       Impact factor: 49.962

6.  Variant of TREM2 associated with the risk of Alzheimer's disease.

Authors:  Thorlakur Jonsson; Hreinn Stefansson; Stacy Steinberg; Ingileif Jonsdottir; Palmi V Jonsson; Jon Snaedal; Sigurbjorn Bjornsson; Johanna Huttenlocher; Allan I Levey; James J Lah; Dan Rujescu; Harald Hampel; Ina Giegling; Ole A Andreassen; Knut Engedal; Ingun Ulstein; Srdjan Djurovic; Carla Ibrahim-Verbaas; Albert Hofman; M Arfan Ikram; Cornelia M van Duijn; Unnur Thorsteinsdottir; Augustine Kong; Kari Stefansson
Journal:  N Engl J Med       Date:  2012-11-14       Impact factor: 91.245

Review 7.  Challenging and complex decisions in the management of the BRCA mutation carrier.

Authors:  Daniela L Stan; Lynne T Shuster; Myra J Wick; Casey L Swanson; Sandhya Pruthi; Jamie N Bakkum-Gamez
Journal:  J Womens Health (Larchmt)       Date:  2013-08-29       Impact factor: 2.681

8.  Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors.

Authors:  Pascal Borry; Heidi C Howard; Karine Sénécal; Denise Avard
Journal:  Fam Cancer       Date:  2009-06-02       Impact factor: 2.375

9.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

Authors:  Danielle Welter; Jacqueline MacArthur; Joannella Morales; Tony Burdett; Peggy Hall; Heather Junkins; Alan Klemm; Paul Flicek; Teri Manolio; Lucia Hindorff; Helen Parkinson
Journal:  Nucleic Acids Res       Date:  2013-12-06       Impact factor: 16.971

10.  Redefining genomic privacy: trust and empowerment.

Authors:  Yaniv Erlich; James B Williams; David Glazer; Kenneth Yocum; Nita Farahany; Maynard Olson; Arvind Narayanan; Lincoln D Stein; Jan A Witkowski; Robert C Kain
Journal:  PLoS Biol       Date:  2014-11-04       Impact factor: 8.029

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  2 in total

1.  "Knock once for yes, twice for no".

Authors:  Bernard Perbal
Journal:  J Cell Commun Signal       Date:  2015-02-26       Impact factor: 5.782

Review 2.  Mastering health: liberating beauty : Will the cosmetics of tomorrow be genetic?

Authors:  Bernard Perbal; Sabine Gabaron
Journal:  J Cell Commun Signal       Date:  2021-11-24       Impact factor: 5.782

  2 in total

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