Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)
In this retrospective study, we examined changes in decision-making for and against the predictive genetic test for Huntington's disease including 478 persons at risk who had undergone genetic counselling in one centre in Germany between 1993 and 2004. At the outset of the counselling procedure...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2009-03, Vol.17 (3), p.295-300 |
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| creator | Bernhardt, Christiane Schwan, Anne-Marie Kraus, Peter Epplen, Joerg Thomas Kunstmann, Erdmute |
| description | In this retrospective study, we examined changes in decision-making for and against the predictive genetic test for Huntington's disease including 478 persons at risk who had undergone genetic counselling in one centre in Germany between 1993 and 2004. At the outset of the counselling procedure the majority of subjects (71%) wanted to make use of the test, yet the actual demand of the predictive test result declined from 67 to 38% over the years. In addition, the time interval between counselling session and blood withdrawal was reduced, as determined by the counselees: in 2000–2004 the majority of persons at risk made the appointment for blood withdrawal after the shortest possible time span. Demographic factors of the cohort remained comparatively stable in the investigated time period. An association was evident between the ratio of test usage and the counselling person. These and other possible factors influencing the time flow of predictive DNA testing are discussed. Further studies are necessary to investigate whether changes of test demand rates are a general phenomenon. |
| doi_str_mv | 10.1038/ejhg.2008.164 |
| format | Article |
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At the outset of the counselling procedure the majority of subjects (71%) wanted to make use of the test, yet the actual demand of the predictive test result declined from 67 to 38% over the years. In addition, the time interval between counselling session and blood withdrawal was reduced, as determined by the counselees: in 2000–2004 the majority of persons at risk made the appointment for blood withdrawal after the shortest possible time span. Demographic factors of the cohort remained comparatively stable in the investigated time period. An association was evident between the ratio of test usage and the counselling person. These and other possible factors influencing the time flow of predictive DNA testing are discussed. Further studies are necessary to investigate whether changes of test demand rates are a general phenomenon.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/ejhg.2008.164</identifier><identifier>PMID: 18781186</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Adolescent ; Adult ; Aged ; Bioinformatics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Counseling ; Cytogenetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; General aspects. Genetic counseling ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic testing ; Genetic Testing - psychology ; Genetic Testing - utilization ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Germany ; Human Genetics ; Humans ; Huntington Disease - diagnosis ; Huntington Disease - psychology ; Huntingtons disease ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Mutation ; Neurology ; Retrospective Studies ; Young Adult</subject><ispartof>European journal of human genetics : EJHG, 2009-03, Vol.17 (3), p.295-300</ispartof><rights>Springer Nature Switzerland AG 2009</rights><rights>2009 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Mar 2009</rights><rights>Copyright © 2009 Nature Publishing Group 2009 Nature Publishing Group</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c512t-15d15f585243f336079ec86ba41d5eb2c1e3af275a9eeecfb88637d1010fbbae3</citedby><cites>FETCH-LOGICAL-c512t-15d15f585243f336079ec86ba41d5eb2c1e3af275a9eeecfb88637d1010fbbae3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986171/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986171/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,41464,42533,51294,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21108063$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18781186$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bernhardt, Christiane</creatorcontrib><creatorcontrib>Schwan, Anne-Marie</creatorcontrib><creatorcontrib>Kraus, Peter</creatorcontrib><creatorcontrib>Epplen, Joerg Thomas</creatorcontrib><creatorcontrib>Kunstmann, Erdmute</creatorcontrib><title>Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>In this retrospective study, we examined changes in decision-making for and against the predictive genetic test for Huntington's disease including 478 persons at risk who had undergone genetic counselling in one centre in Germany between 1993 and 2004. At the outset of the counselling procedure the majority of subjects (71%) wanted to make use of the test, yet the actual demand of the predictive test result declined from 67 to 38% over the years. In addition, the time interval between counselling session and blood withdrawal was reduced, as determined by the counselees: in 2000–2004 the majority of persons at risk made the appointment for blood withdrawal after the shortest possible time span. Demographic factors of the cohort remained comparatively stable in the investigated time period. An association was evident between the ratio of test usage and the counselling person. These and other possible factors influencing the time flow of predictive DNA testing are discussed. Further studies are necessary to investigate whether changes of test demand rates are a general phenomenon.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Bioinformatics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Counseling</subject><subject>Cytogenetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic testing</subject><subject>Genetic Testing - psychology</subject><subject>Genetic Testing - utilization</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Germany</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Huntington Disease - diagnosis</subject><subject>Huntington Disease - psychology</subject><subject>Huntingtons disease</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Retrospective Studies</subject><subject>Young Adult</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkc9u1DAQxiNERf_AkSuykGjLIYvHThyHAxIqtEWqxAXOluOMt16yTmonhd54B96QJ8HprlpASJw80veb8TfzZdlToAugXL7C1eVywSiVCxDFg2wPikrkZcHlw1RTkHkhge9m-zGuKE1iBY-yXZCVBJBiL_v6Dk1AHZ1fkmkY9RckvSVDwNaZ0V0jGTGOs2j7QM4nP9dj748iaV1MfUicJ5qcYVhrTwz6MeBrAozcoA7xiOC3AYNDb5AcQ13zn99_JLPFy8fZjtVdxCfb9yD7fPr-08l5fvHx7MPJ24vclMDGHMoWSlvKkhXcci5oVaORotEFtCU2zABybVlV6hoRjW2kFLxq0-LUNo1GfpC92cwdpmaN7a1B3akhuLUON6rXTv2peHeplv21YrUUUEEacLgdEPqrKR1DrV002HXaYz9FJUTNa1mK_4KMFjTdnCXw-V_gqp-CT1dQDCpZ1AJkgvINZEIfY0B7ZxmomoNXc_BqDl6l4BP_7Pc97-lt0gl4sQV0NLqzQXvj4h3HAKikgiduseFikvwSw727f__8C7AIxlQ</recordid><startdate>20090301</startdate><enddate>20090301</enddate><creator>Bernhardt, Christiane</creator><creator>Schwan, Anne-Marie</creator><creator>Kraus, Peter</creator><creator>Epplen, Joerg Thomas</creator><creator>Kunstmann, Erdmute</creator><general>Springer International Publishing</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7TK</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20090301</creationdate><title>Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)</title><author>Bernhardt, Christiane ; Schwan, Anne-Marie ; Kraus, Peter ; Epplen, Joerg Thomas ; Kunstmann, Erdmute</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c512t-15d15f585243f336079ec86ba41d5eb2c1e3af275a9eeecfb88637d1010fbbae3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Bioinformatics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Counseling</topic><topic>Cytogenetics</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic testing</topic><topic>Genetic Testing - psychology</topic><topic>Genetic Testing - utilization</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Germany</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Huntington Disease - diagnosis</topic><topic>Huntington Disease - psychology</topic><topic>Huntingtons disease</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Retrospective Studies</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bernhardt, Christiane</creatorcontrib><creatorcontrib>Schwan, Anne-Marie</creatorcontrib><creatorcontrib>Kraus, Peter</creatorcontrib><creatorcontrib>Epplen, Joerg Thomas</creatorcontrib><creatorcontrib>Kunstmann, Erdmute</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bernhardt, Christiane</au><au>Schwan, Anne-Marie</au><au>Kraus, Peter</au><au>Epplen, Joerg Thomas</au><au>Kunstmann, Erdmute</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2009-03-01</date><risdate>2009</risdate><volume>17</volume><issue>3</issue><spage>295</spage><epage>300</epage><pages>295-300</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>In this retrospective study, we examined changes in decision-making for and against the predictive genetic test for Huntington's disease including 478 persons at risk who had undergone genetic counselling in one centre in Germany between 1993 and 2004. At the outset of the counselling procedure the majority of subjects (71%) wanted to make use of the test, yet the actual demand of the predictive test result declined from 67 to 38% over the years. In addition, the time interval between counselling session and blood withdrawal was reduced, as determined by the counselees: in 2000–2004 the majority of persons at risk made the appointment for blood withdrawal after the shortest possible time span. Demographic factors of the cohort remained comparatively stable in the investigated time period. An association was evident between the ratio of test usage and the counselling person. These and other possible factors influencing the time flow of predictive DNA testing are discussed. Further studies are necessary to investigate whether changes of test demand rates are a general phenomenon.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>18781186</pmid><doi>10.1038/ejhg.2008.164</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Counseling Cytogenetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genetic Counseling Genetic Predisposition to Disease Genetic testing Genetic Testing - psychology Genetic Testing - utilization Genetics Genetics of eukaryotes. Biological and molecular evolution Germany Human Genetics Humans Huntington Disease - diagnosis Huntington Disease - psychology Huntingtons disease Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Mutation Neurology Retrospective Studies Young Adult |
| title | Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004) |
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