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 !
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Notes
At the time the present manuscript is written, the 2003 editorial has been downloaded 17,000 times, a sign that the topic is of great interest to our scientifc community and redership.
According to the NIH (http://gds.nih.gov/pdf/PTC_for_IRBs_and_Institutions_revised5-31-11.pdf) A genome-wide association study (GWAS) is a study of genetic variation across the entire human genome that is designed to associate genetic variations (SNPs) with traits (such as blood pressure or weight) or with the presence or absence of a disease or condition. This type of study is a comprehensive measurement of all or nearly all variation in all human chromosomes, and sometimes mitochondrial DNA as well. GWAS typically involve hundreds of markers, rather than, for example, studies of candidate genes or targeted chromosomal regions. To meet the definition of a GWAS, the density of genetic markers and the extent of linkage disequilibrium should be sufficient to capture (by the r2 parameter) a large proportion of the common variation in the genome of the population under study, and the number of samples (in a case-control or trio design) should provide sufficient power to detect variants of modest effect.
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed november 3rd, 2014.
International Society of Genetic Genealogy. http://www.isogg.org/
National Geographic Society. www.nationalgeographic.com/about/
Direct-to-Consumer Genetic Tests. Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices
Is a DNA Scan a Medical Test or Just Informational? Views Differ http://www.nytimes.com/2010/03/20/business/20consumergenebar.html?_r=0
Thermo Fisher Scientific Completes Acquisition of Life Technologies Corporation http://www.marketwatch.com/story/thermo-fisher-scientific-completes-acquisition-of-life-technologies-corporation-2014-02-03
Genome and Nation, Iceland's Health Sector Database and its Legacy
http://ourenvironment.berkeley.edu/wp-content/uploads/2011/09 GENOME_NATION.pdf
Meyer, Michelle N., Comparative Law - Genetic Privacy - Icelandic Supreme Court Holds that Inclusion of an Individual’s Genetic Information in a National Database Infringes on the Privacy Interests of His Child (December 1, 2004). Harvard Law Review, Vol. 118, p. 810, 2004; Harvard Public Law Working Paper. Available at SSRN: http://ssrn.com/abstract=2106154
Icelandic Supreme Court No. 151/2003.
The topic of right to privacy regarding personal data will be the subject of a forthcoming editorial.
Big biotech buys iconic genetics firm
http://www.nature.com/news/big-biotech-buys-iconic-genetics-firm-1.12068
Amgen to Acquire deCODE Genetics, a Global Leader in Human Genetics
This topic will be adressed and discussed in a forthcoming editorial.
Is a DNA Scan a Medical Test or Just Informational? Views Differ http://www.nytimes.com/2010/03/20/business/20consumergenebar.html?_r=0
Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee. http://www.regulations.gov/#!documentDetail;D=FDA-2011-N-0066-0001; March 8-9, 2011: Molecular and Clinical Genetics Meeting Announcement http://www.fda.gov/AdvisoryCommittees/Calendar/ucm242537.htm
the presentation given by Ashley Gould, General Counsel at 23andMe is available on line at http://www.fda.gov/ucm/groups/fdagov-public/@fdagov-afda-adcom/documents/document/ucm248565.pdf
FDA Panel Says Home Gene Tests Need MD Input http://www.medpagetoday.com/Genetics/GeneticTesting/25280
MIT technology review 12 JAN 2011 Consumer Genetic Tests Have Little Impact http://www.technologyreview.com/news/422373/consumer-genetic-tests-have-little-impact/
see libertarianism as an example of philosophical movement for maximal freedom and minimal governemental interference in people life style choices
FDA Panel Says Home Gene Tests Need MD Input http://www.medpagetoday.com/Genetics/GeneticTesting/25280
The End for Direct-to-Consumer Genetic Testing? http://www.technologyreview.com/view/423270/the-end-for-direct-to-consumer-genetic-testing/
Mary Pendergast’s testimony during the public hearing cited FDA « Panel Says Home Gene Tests Need MD Input http://www.medpagetoday.com/Genetics/GeneticTesting/25280 »
MacArthur wrote in his blog (Snippets From Day One Of The FDA Meeting On Consumer Genetics
http://www.wired.com/2011/03/snippets-from-day-one-of-the-fda-meeting-on-consumer-genetics/ . American Medical Association: You Can’t Look At Your Genome Without Our Supervision
http://www.wired.com/2011/02/american-medical-association-you-cant-look-at-your-genome-without-our-supervision/) that the recommendation of the panel was « an obsolete, paternalistic vision for genomic medicine that flies in the face of primary physicians’ self-admitted ignorance of genetics »
many observers and analysts pointed out the difficulties that general public faced when claiming the free choice to buy pregnancy tests for use at home or the freedom to now about their blood tests results.
American Medical Association: You Can’t Look At Your Genome Without Our Supervision. http://www.wired.com/2011/02/american-medical-association-you-cant-look-at-your-genome-without-our-supervision/
Jeremy Gruber in Topic Update: Direct-To-Consumer Genetic Testing Criticized at FDA Hearing. http://www.councilforresponsiblegenetics.org/genewatch/GeneWatchPage.aspx?pageId=327
American Medical Association: You Can’t Look At Your Genome Without Our Supervision
Inspections, Compliance, Enforcement, and Criminal Investigations WARNING LETTER 2013 23ANDME http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm
Direct-to-consumer genomics reinvents itself Malorye Allison Nature Biotechnology30,1027–1029 (2012)
http://www.nature.com/nbt/journal/v30/n11/full/nbt.2409.html
Just the facts, please http://www.nature.com/nbt/journal/v31/n12/full/nbt.2771.html
23andMe Myeloprofiferative Neoplasm (MPN) Research Initiative
23andMe Research Findings https://www.23andme.com/about/factoid/factoid_mpn_jak2/
23andMe and Genentech Expand Cancer Study http://blog.23andme.com/23andme-research/23andme-and-genentech-expand-cancer-study/
Incorporating Technology and DNA Testing into Clinical Trials
Google-Backed 23andMe Asks FDA to Clear DNA Evaluation Service
My Medical Choice By Angelina Jolie Published: May 14, 2013
http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=0
“I remember the appointment so vividly” – carrying the BRCA1 gene
The FDA Just Ruined Your Plans To Buy 23andMe’s DNA Test As A Christmas Present
http://www.forbes.com/sites/kashmirhill/2013/11/25/fda-23andme/
Celebrity cancer stories: help or hindrance?
http://scienceblog.cancerresearchuk.org/2013/07/05/celebrity-cancer-stories-help-or-hindrance/
Scientists inch closer to personal risk prediction – for some
Why The FDA Can’t Be Flexible With 23andMe, By Law
http://www.forbes.com/sites/davidkroll/2013/11/28/why-the-fda-cant-be-flexible-with-23andme-by-law/
these issues will be addressed and commented in a forthcoming editorial.
FDA To Regulate Thousands Of Cancer, Genetic, And Other Diagnostics
Long-Awaited Announcement from the FDA on LDTs
FDA notification to the congress
List of DNA testing companies last modified on 26 October 2014 http://www.isogg.org/wiki/List_of_DNA_testing_companies,
MyGenome By Illumina, Inc.
https://itunes.apple.com/us/app/mygenome/id516405838?mt=8
Illumina Launches MyGenome(R) App for iPad(R)First Tool of Its Kind for Visualizing the Human Genomehttp://investor.illumina.com/phoenix.zhtml?c=121127&p=irol-newsArticle&ID=1686310
What’s the next step in ‘smart & connected’ product development? By Michelle Yeomans, 23-Oct-2014
Contemporary consumers expect technology to make their lives easier and more comfortable and the cosmetics sector is taking inspiration from the internet and cashless vending machines to drive more sophisticated and advanced innovations.
23andMe Stops Offering Genetic Tests Related To Health
23andMe, INC. Provides Update on FDA Regulatory Review
http://mediacenter.23andme.com/blog/2013/12/05/23andme-inc-provides-update-on-fda-regulatory-review/
23andMe Announces Agreement with Pfizer Inc. to Research Genetics of Ulcerative Colitis and Crohn’s Disease
Pfizer continues to explore virtual trials with 23andMe pact http://www.fiercebiotechit.com/story/pfizer-continues-explore-virtual-trials-23andme-pact/2014-08-18
Seven Months After FDA Slapdown, 23andMe Returns With New Health Report Submission
these aspects will be discussed in another Editorial shortly .
(U.S. 8,187,811 B2)
For 23andMe, The Real Value Could Be In Its Data
The Future of Genetics in People’s Lives http://blog.23andme.com/news/the-future-of-genetics-in-peoples-lives/
650 000 genotyped customers at the time of the conference
the gene factory in the new yorker jan 6, 2014
http://www.newyorker.com/magazine/2014/01/06/the-gene-factory
the gene factory in the new yorker jan 6, 2014
http://www.newyorker.com/magazine/2014/01/06/the-gene-factory
see Anne WOjcicki comment on this point at : 23andMe Tries to Woo the FDA. MIT Technology Review. This topic will also be discussed in a forthcoming editorial
see the 2012 excellent swedish TV series « Real Humans » based on a story written Lars Lundström and directed by Harald Hamrell and Levan Akin
geneticists tap human knockouts
http://www.nature.com/news/geneticists-tap-human-knockouts-1.16239
Is the $1000 genome for real?
http://www.nature.com/news/is-the-1-000-genome-for-real-1.14530
Bio-Rad Acquires GnuBIO, Developer of Droplet-Based DNA Sequencing Technology
Consumer Genetics Puts on a Show
http://www.bio-itworld.com/2010/issues/jul-aug/consumer-genetics.html
this issue will be discussed in a forthcoming editorial
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I am deeply indebted to my friend and colleague Dr. H. Yeger for his critical review of the manuscript and to Annick for her daily support.
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Perbal, B. Communication is the key.. J. Cell Commun. Signal. 8, 275–287 (2014). https://doi.org/10.1007/s12079-014-0258-2
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DOI: https://doi.org/10.1007/s12079-014-0258-2