Personalized medicine – the promised land: are we there yet?
Identifieur interne : 001B92 ( Istex/Corpus ); précédent : 001B91; suivant : 001B93Personalized medicine – the promised land: are we there yet?
Auteurs : C. LiSource :
- Clinical Genetics [ 0009-9163 ] ; 2011-05.
English descriptors
- Teeft :
- Anatomic location, Association studies, Cardiovascular diseases, Chronic hepatitis, Clinical genetics, Clinical trials, Clinical utility, Commercial companies, Common diseases, Derivative projects, Diagnostic sensitivity, Different cell types, Disease condition, Disease diagnosis, Disease prevention, Encode proteins, Expressionomes, Gene expression, Genet, Genetic information, Genetic medicine, Genetic testing, Genetics, Genome, Genome info, Genomic, Genomic data, Genomic info, Genomic information, Genomic medicine, Genomic sequences, Genomic variants, Genomics, Gwas, Healthcare, Healthcare facilities, Hereditary materials, High risk, Human genome project, Human genomes, Identical genomes, Info, Intermediate expressionomes, Lifetime risk, Macular degeneration, Medullary thyroid cancer, Mutation, Organism levels, Other words, Ovarian cancer, Paradigm shift, Payer, Phenotype, Predictive value, Prospective studies, Prostate cancer, Real time, Regulatory bodies, Ribavirin therapy, Risk factors, Single nucleotide polymorphism, Societal initiatives, Static genome, Such info, Such tests, Virus infection.
Abstract
Li C. Personalized medicine – the promised land: are we there yet? The delivery of personalized genomic medicine (refer Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome‐wide association studies (GWAS) or whole‐genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole‐genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico‐legal, will have to be addressed as genomic data are been pushed for clinical and direct‐to‐consumer utilization. A simplified comparison of clinical genetics and the anticipated genomic medicineClinical geneticsGenomic medicineEmphasisRare or very rare diseasesCommon complex diseasesGenes involvedMonogenic or oligogenicOften unknownGenomic changesChromosome rearrangements, aneuploidy, copy number variants, deletions, duplicationsMultiple variants/polymorphismsPenetranceHighLowDisease detectionDiagnostic, carrier testing and pre‐symptomatic testingPredictive risk assessmentPre‐symptomatic testingHigh predictive valueLow predictive value (not yet proven)TreatmentVariable approachesPersonalized approach based on genome infoClinical geneticistMedical doctors, well educated and trained in this specialtyMinimal education and trainingLaboratory geneticistUsually PhDs, well educated and trained overseeing clinical service laboratoriesUsually PhD researchers without direct clinical involvement
Url:
DOI: 10.1111/j.1399-0004.2010.01609.x
Links to Exploration step
ISTEX:EC223D883E7ED96A9C30C05ECD96E2D652A7608BLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Personalized medicine – the promised land: are we there yet?</title><author><name sortKey="Li, C" sort="Li, C" uniqKey="Li C" first="C" last="Li">C. Li</name><affiliation><mods:affiliation>Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: lichum@mcmaster.ca</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:EC223D883E7ED96A9C30C05ECD96E2D652A7608B</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1111/j.1399-0004.2010.01609.x</idno><idno type="url">https://api.istex.fr/ark:/67375/WNG-D0ZFBQZ2-4/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">001B92</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001B92</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Personalized medicine – the promised land: are we there yet?</title><author><name sortKey="Li, C" sort="Li, C" uniqKey="Li C" first="C" last="Li">C. Li</name><affiliation><mods:affiliation>Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: lichum@mcmaster.ca</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="403">403</biblScope><biblScope unit="page" to="412">412</biblScope><biblScope unit="page-count">10</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-05">2011-05</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Anatomic location</term><term>Association studies</term><term>Cardiovascular diseases</term><term>Chronic hepatitis</term><term>Clinical genetics</term><term>Clinical trials</term><term>Clinical utility</term><term>Commercial companies</term><term>Common diseases</term><term>Derivative projects</term><term>Diagnostic sensitivity</term><term>Different cell types</term><term>Disease condition</term><term>Disease diagnosis</term><term>Disease prevention</term><term>Encode proteins</term><term>Expressionomes</term><term>Gene expression</term><term>Genet</term><term>Genetic information</term><term>Genetic medicine</term><term>Genetic testing</term><term>Genetics</term><term>Genome</term><term>Genome info</term><term>Genomic</term><term>Genomic data</term><term>Genomic info</term><term>Genomic information</term><term>Genomic medicine</term><term>Genomic sequences</term><term>Genomic variants</term><term>Genomics</term><term>Gwas</term><term>Healthcare</term><term>Healthcare facilities</term><term>Hereditary materials</term><term>High risk</term><term>Human genome project</term><term>Human genomes</term><term>Identical genomes</term><term>Info</term><term>Intermediate expressionomes</term><term>Lifetime risk</term><term>Macular degeneration</term><term>Medullary thyroid cancer</term><term>Mutation</term><term>Organism levels</term><term>Other words</term><term>Ovarian cancer</term><term>Paradigm shift</term><term>Payer</term><term>Phenotype</term><term>Predictive value</term><term>Prospective studies</term><term>Prostate cancer</term><term>Real time</term><term>Regulatory bodies</term><term>Ribavirin therapy</term><term>Risk factors</term><term>Single nucleotide polymorphism</term><term>Societal initiatives</term><term>Static genome</term><term>Such info</term><term>Such tests</term><term>Virus infection</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Li C. Personalized medicine – the promised land: are we there yet? The delivery of personalized genomic medicine (refer Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome‐wide association studies (GWAS) or whole‐genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole‐genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico‐legal, will have to be addressed as genomic data are been pushed for clinical and direct‐to‐consumer utilization. A simplified comparison of clinical genetics and the anticipated genomic medicineClinical geneticsGenomic medicineEmphasisRare or very rare diseasesCommon complex diseasesGenes involvedMonogenic or oligogenicOften unknownGenomic changesChromosome rearrangements, aneuploidy, copy number variants, deletions, duplicationsMultiple variants/polymorphismsPenetranceHighLowDisease detectionDiagnostic, carrier testing and pre‐symptomatic testingPredictive risk assessmentPre‐symptomatic testingHigh predictive valueLow predictive value (not yet proven)TreatmentVariable approachesPersonalized approach based on genome infoClinical geneticistMedical doctors, well educated and trained in this specialtyMinimal education and trainingLaboratory geneticistUsually PhDs, well educated and trained overseeing clinical service laboratoriesUsually PhD researchers without direct clinical involvement</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>genome</json:string><json:string>genomic</json:string><json:string>healthcare</json:string><json:string>gwas</json:string><json:string>info</json:string><json:string>genet</json:string><json:string>genomics</json:string><json:string>genetics</json:string><json:string>payer</json:string><json:string>phenotype</json:string><json:string>mutation</json:string><json:string>expressionomes</json:string><json:string>commercial companies</json:string><json:string>such info</json:string><json:string>genomic information</json:string><json:string>genomic data</json:string><json:string>clinical utility</json:string><json:string>predictive value</json:string><json:string>healthcare facilities</json:string><json:string>association studies</json:string><json:string>genomic sequences</json:string><json:string>genomic medicine</json:string><json:string>macular degeneration</json:string><json:string>human genome project</json:string><json:string>gene expression</json:string><json:string>high risk</json:string><json:string>genomic info</json:string><json:string>other words</json:string><json:string>genomic variants</json:string><json:string>disease condition</json:string><json:string>lifetime risk</json:string><json:string>identical genomes</json:string><json:string>diagnostic sensitivity</json:string><json:string>different cell types</json:string><json:string>medullary thyroid cancer</json:string><json:string>virus infection</json:string><json:string>single nucleotide polymorphism</json:string><json:string>static genome</json:string><json:string>common diseases</json:string><json:string>intermediate expressionomes</json:string><json:string>hereditary materials</json:string><json:string>prospective studies</json:string><json:string>organism levels</json:string><json:string>risk factors</json:string><json:string>real time</json:string><json:string>anatomic location</json:string><json:string>disease prevention</json:string><json:string>genome info</json:string><json:string>ovarian cancer</json:string><json:string>encode proteins</json:string><json:string>such tests</json:string><json:string>societal initiatives</json:string><json:string>cardiovascular diseases</json:string><json:string>human genomes</json:string><json:string>genetic information</json:string><json:string>disease diagnosis</json:string><json:string>genetic testing</json:string><json:string>derivative projects</json:string><json:string>genetic medicine</json:string><json:string>prostate cancer</json:string><json:string>regulatory bodies</json:string><json:string>clinical genetics</json:string><json:string>clinical trials</json:string><json:string>paradigm shift</json:string><json:string>chronic hepatitis</json:string><json:string>ribavirin therapy</json:string></teeft></keywords><author><json:item><name>C Li</name><affiliations><json:string>Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Canada</json:string><json:string>E-mail: lichum@mcmaster.ca</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>delivery of genetics care, personalized medicine</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>omics</value></json:item></subject><articleId><json:string>CGE1609</json:string></articleId><arkIstex>ark:/67375/WNG-D0ZFBQZ2-4</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Li C. Personalized medicine – the promised land: are we there yet? The delivery of personalized genomic medicine (refer Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome‐wide association studies (GWAS) or whole‐genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole‐genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico‐legal, will have to be addressed as genomic data are been pushed for clinical and direct‐to‐consumer utilization. A simplified comparison of clinical genetics and the anticipated genomic medicineClinical geneticsGenomic medicineEmphasisRare or very rare diseasesCommon complex diseasesGenes involvedMonogenic or oligogenicOften unknownGenomic changesChromosome rearrangements, aneuploidy, copy number variants, deletions, duplicationsMultiple variants/polymorphismsPenetranceHighLowDisease detectionDiagnostic, carrier testing and pre‐symptomatic testingPredictive risk assessmentPre‐symptomatic testingHigh predictive valueLow predictive value (not yet proven)TreatmentVariable approachesPersonalized approach based on genome infoClinical geneticistMedical doctors, well educated and trained in this specialtyMinimal education and trainingLaboratory geneticistUsually PhDs, well educated and trained overseeing clinical service laboratoriesUsually PhD researchers without direct clinical involvement</abstract><qualityIndicators><score>9.952</score><pdfWordCount>5234</pdfWordCount><pdfCharCount>35062</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>10</pdfPageCount><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><pdfWordsPerPage>523</pdfWordsPerPage><pdfText>true</pdfText><refBibsNative>true</refBibsNative><abstractWordCount>246</abstractWordCount><abstractCharCount>1940</abstractCharCount><keywordCount>2</keywordCount></qualityIndicators><title>Personalized medicine – the promised land: are we there yet?</title><pmid><json:string>21204795</json:string></pmid><genre><json:string>article</json:string></genre><host><title>Clinical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1111/(ISSN)1399-0004</json:string></doi><issn><json:string>0009-9163</json:string></issn><eissn><json:string>1399-0004</json:string></eissn><publisherId><json:string>CGE</json:string></publisherId><volume>79</volume><issue>5</issue><pages><first>403</first><last>412</last><total>10</total></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>2011</json:string><json:string>1000</json:string><json:string>2007</json:string><json:string>2003</json:string></date><geogName></geogName><orgName></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Proactive</json:string><json:string>Li Table</json:string><json:string>John Wiley</json:string><json:string>A. 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health sciences</json:string><json:string>2 - biomedical research</json:string><json:string>3 - genetics & heredity</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Genetics(clinical)</json:string><json:string>1 - Life Sciences</json:string><json:string>2 - Biochemistry, Genetics and Molecular Biology</json:string><json:string>3 - Genetics</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1111/j.1399-0004.2010.01609.x</json:string></doi><id>EC223D883E7ED96A9C30C05ECD96E2D652A7608B</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/ark:/67375/WNG-D0ZFBQZ2-4/fulltext.pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/ark:/67375/WNG-D0ZFBQZ2-4/bundle.zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/ark:/67375/WNG-D0ZFBQZ2-4/fulltext.tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main">Personalized medicine – the promised land: are we there yet?</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><licence>© 2011 John Wiley & Sons A/S</licence></availability><date type="published" when="2011-05"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Personalized medicine – the promised land: are we there yet?</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">C</forename><surname>Li</surname></persName><affiliation><orgName type="group">Clinical Genetics Program</orgName><orgName type="division">Department of Pediatrics</orgName><orgName type="institution">McMaster University Medical Center</orgName><address><addrLine>Hamilton</addrLine><addrLine>Canada</addrLine><country key="CA" xml:lang="en">CANADA</country></address></affiliation></author><idno type="istex">EC223D883E7ED96A9C30C05ECD96E2D652A7608B</idno><idno type="ark">ark:/67375/WNG-D0ZFBQZ2-4</idno><idno type="DOI">10.1111/j.1399-0004.2010.01609.x</idno><idno type="unit">CGE1609</idno><idno type="toTypesetVersion">file:CGE.CGE1609.pdf</idno></analytic><monogr><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="book-DOI">10.1111/(ISSN)1399-0004</idno><idno type="book-part-DOI">10.1111/cge.2011.79.issue-5</idno><idno type="product">CGE</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="403">403</biblScope><biblScope unit="page" to="412">412</biblScope><biblScope unit="page-count">10</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-05"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><encodingDesc><schemaRef type="ODD" url="https://xml-schema.delivery.istex.fr/tei-istex.odd"></schemaRef><appInfo><application ident="pub2tei" version="1.0.10" when="2019-12-20"><label>pub2TEI-ISTEX</label><desc>A set of style sheets for converting XML documents encoded in various scientific publisher formats into a common TEI format.
<ref target="http://www.tei-c.org/">We use TEI</ref></desc></application></appInfo></encodingDesc><profileDesc><abstract xml:lang="en" style="main"><p>Li C. Personalized medicine – the promised land: are we there yet?</p><p>The delivery of personalized genomic medicine (refer <ref type="table" target="#t1">Table 1</ref> for a comparison of genomic <hi rend="italic">vs</hi> genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome‐wide association studies (GWAS) or whole‐genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole‐genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico‐legal, will have to be addressed as genomic data are been pushed for clinical and direct‐to‐consumer utilization.</p><figure type="table" xml:id="t1"><head>A simplified comparison of clinical genetics and the anticipated genomic medicine</head><table cols="3"><row role="label"><cell style="align(left)"></cell><cell style="align(left)">Clinical genetics</cell><cell style="align(left)">Genomic medicine</cell></row><row><cell style="align(left)">Emphasis</cell><cell style="align(left)">Rare or very rare diseases</cell><cell style="align(left)">Common complex diseases</cell></row><row><cell style="align(left)">Genes involved</cell><cell style="align(left)">Monogenic or oligogenic</cell><cell style="align(left)">Often unknown</cell></row><row><cell style="align(left)">Genomic changes</cell><cell style="align(left)">Chromosome rearrangements, aneuploidy, copy number variants, deletions, duplications</cell><cell style="align(left)">Multiple variants/polymorphisms</cell></row><row><cell style="align(left)">Penetrance</cell><cell style="align(left)">High</cell><cell style="align(left)">Low</cell></row><row><cell style="align(left)">Disease detection</cell><cell style="align(left)">Diagnostic, carrier testing and pre‐symptomatic testing</cell><cell style="align(left)">Predictive risk assessment</cell></row><row><cell style="align(left)">Pre‐symptomatic testing</cell><cell style="align(left)">High predictive value</cell><cell style="align(left)">Low predictive value (not yet proven)</cell></row><row><cell style="align(left)">Treatment</cell><cell style="align(left)">Variable approaches</cell><cell style="align(left)">Personalized approach based on genome info</cell></row><row><cell style="align(left)">Clinical geneticist</cell><cell style="align(left)">Medical doctors, well educated and trained in this specialty</cell><cell style="align(left)">Minimal education and training</cell></row><row><cell style="align(left)">Laboratory geneticist</cell><cell style="align(left)">Usually PhDs, well educated and trained overseeing clinical service laboratories</cell><cell style="align(left)">Usually PhD researchers without direct clinical involvement</cell></row></table></figure></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">delivery of genetics care, personalized medicine</term><term xml:id="k2">omics</term></keywords><keywords rend="tocHeading1"><term>REVIEW</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc><revisionDesc><change when="2019-12-20" who="#istex" xml:id="pub2tei">formatting</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/ark:/67375/WNG-D0ZFBQZ2-4/fulltext.txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="05105"><doi origin="wiley">10.1111/cge.2011.79.issue-5</doi><numberingGroup><numbering type="journalVolume" number="79">79</numbering><numbering type="journalIssue" number="5">5</numbering></numberingGroup><coverDate startDate="2011-05">May 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="1" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.2010.01609.x</doi><idGroup><id type="unit" value="CGE1609"></id></idGroup><countGroup><count type="pageTotal" number="10"></count></countGroup><titleGroup><title type="tocHeading1">REVIEW</title></titleGroup><copyright>© 2011 John Wiley & Sons A/S</copyright><eventGroup><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.4.8 mode:FullText" date="2011-04-07"></event><event type="publishedOnlineAccepted" date="2010-12-13"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-01-10"></event><event type="firstOnline" date="2011-01-10"></event><event type="publishedOnlineFinalForm" date="2011-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="403">403</numbering><numbering type="pageLast" number="412">412</numbering></numberingGroup><correspondenceTo>Dr Chumei Li, 1200 Main Street West, MIMC 3N11E, Hamilton, ON L8S 4J9, Canada
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e‐mail: <email>lichum@mcmaster.ca</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE1609.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 31 March 2010, revised and accepted for publication 6 December 2010</unparsedEditorialHistory><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="32"></count></countGroup><titleGroup><title type="main">Personalized medicine – the promised land: are we there yet?</title><title type="shortAuthors">Li</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" corresponding="yes"><personName><givenNames>C</givenNames><familyName>Li</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="CA"><unparsedAffiliation>Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Canada</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">delivery of genetics care, personalized medicine</keyword><keyword xml:id="k2">omics</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Li C. Personalized medicine – the promised land: are we there yet?</p><p>The delivery of personalized genomic medicine (refer <link href="#t1">Table 1</link> for a comparison of genomic <i>vs</i> genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome‐wide association studies (GWAS) or whole‐genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole‐genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico‐legal, will have to be addressed as genomic data are been pushed for clinical and direct‐to‐consumer utilization.</p><tabular xml:id="t1"><label>1</label><title type="main">A simplified comparison of clinical genetics and the anticipated genomic medicine</title><table frame="topbot"><tgroup cols="3" align="left"><colspec colnum="1" colname="col1"></colspec><colspec colnum="2" colname="col2"></colspec><colspec colnum="3" colname="col3"></colspec><thead valign="bottom"><row rowsep="1"><entry align="left"></entry><entry align="left">Clinical genetics</entry><entry align="left">Genomic medicine</entry></row></thead><tbody valign="top"><row><entry align="left">Emphasis</entry><entry align="left">Rare or very rare diseases</entry><entry align="left">Common complex diseases</entry></row><row><entry align="left">Genes involved</entry><entry align="left">Monogenic or oligogenic</entry><entry align="left">Often unknown</entry></row><row><entry align="left">Genomic changes</entry><entry align="left">Chromosome rearrangements, aneuploidy, copy number variants, deletions, duplications</entry><entry align="left">Multiple variants/polymorphisms</entry></row><row><entry align="left">Penetrance</entry><entry align="left">High</entry><entry align="left">Low</entry></row><row><entry align="left">Disease detection</entry><entry align="left">Diagnostic, carrier testing and pre‐symptomatic testing</entry><entry align="left">Predictive risk assessment</entry></row><row><entry align="left">Pre‐symptomatic testing</entry><entry align="left">High predictive value</entry><entry align="left">Low predictive value (not yet proven)</entry></row><row><entry align="left">Treatment</entry><entry align="left">Variable approaches</entry><entry align="left">Personalized approach based on genome info</entry></row><row><entry align="left">Clinical geneticist</entry><entry align="left">Medical doctors, well educated and trained in this specialty</entry><entry align="left">Minimal education and training</entry></row><row><entry align="left">Laboratory geneticist</entry><entry align="left">Usually PhDs, well educated and trained overseeing clinical service laboratories</entry><entry align="left">Usually PhD researchers without direct clinical involvement</entry></row></tbody></tgroup></table></tabular></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Personalized medicine – the promised land: are we there yet?</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Personalized medicine – the promised land: are we there yet?</title></titleInfo><name type="personal"><namePart type="given">C</namePart><namePart type="family">Li</namePart><affiliation>Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Canada</affiliation><affiliation>E-mail: lichum@mcmaster.ca</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2011-05</dateIssued><edition>Received 31 March 2010, revised and accepted for publication 6 December 2010</edition><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">3</extent><extent unit="tables">1</extent><extent unit="formulas">0</extent><extent unit="references">32</extent></physicalDescription><abstract lang="en">Li C. Personalized medicine – the promised land: are we there yet? The delivery of personalized genomic medicine (refer Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome‐wide association studies (GWAS) or whole‐genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole‐genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico‐legal, will have to be addressed as genomic data are been pushed for clinical and direct‐to‐consumer utilization. A simplified comparison of clinical genetics and the anticipated genomic medicineClinical geneticsGenomic medicineEmphasisRare or very rare diseasesCommon complex diseasesGenes involvedMonogenic or oligogenicOften unknownGenomic changesChromosome rearrangements, aneuploidy, copy number variants, deletions, duplicationsMultiple variants/polymorphismsPenetranceHighLowDisease detectionDiagnostic, carrier testing and pre‐symptomatic testingPredictive risk assessmentPre‐symptomatic testingHigh predictive valueLow predictive value (not yet proven)TreatmentVariable approachesPersonalized approach based on genome infoClinical geneticistMedical doctors, well educated and trained in this specialtyMinimal education and trainingLaboratory geneticistUsually PhDs, well educated and trained overseeing clinical service laboratoriesUsually PhD researchers without direct clinical involvement</abstract><subject lang="en"><genre>keywords</genre><topic>delivery of genetics care, personalized medicine</topic><topic>omics</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>79</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>403</start><end>412</end><total>10</total></extent></part></relatedItem><relatedItem type="references" displayLabel="cit1"><titleInfo><title>Complement factor H polymorphism and age‐related macular degeneration.</title></titleInfo><name type="personal"><namePart type="given">AO</namePart><namePart type="family">Edwards</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="family">Ritter</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">KJ</namePart><namePart type="family">Abel</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Manning</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Panhuysen</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">LA.</namePart><namePart type="family">Farrer</namePart><role><roleTerm type="text">author</roleTerm></role></name><genre>journal-article</genre><note type="citation/reference">Edwards AO, Ritter R. 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. 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