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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">‘You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research</title><author><name sortKey="Mccormack, Pauline" sort="Mccormack, Pauline" uniqKey="Mccormack P" first="Pauline" last="Mccormack">Pauline Mccormack</name><affiliation><nlm:aff id="aff1"><institution>PEALS Research Centre, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kole, Anna" sort="Kole, Anna" uniqKey="Kole A" first="Anna" last="Kole">Anna Kole</name><affiliation><nlm:aff id="aff2"><institution>EURORDIS</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gainotti, Sabina" sort="Gainotti, Sabina" uniqKey="Gainotti S" first="Sabina" last="Gainotti">Sabina Gainotti</name><affiliation><nlm:aff id="aff3"><institution>Istituto Superiore di Sanità</institution>, Rome,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Mascalzoni, Deborah" sort="Mascalzoni, Deborah" uniqKey="Mascalzoni D" first="Deborah" last="Mascalzoni">Deborah Mascalzoni</name><affiliation><nlm:aff id="aff4"><institution>Centre for Research Ethics & Bioethics, Uppsala University</institution>, Uppsala,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Molster, Caron" sort="Molster, Caron" uniqKey="Molster C" first="Caron" last="Molster">Caron Molster</name><affiliation><nlm:aff id="aff5"><institution>Office of Population Health Genomics</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="aff6"><institution>John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Woods, Simon" sort="Woods, Simon" uniqKey="Woods S" first="Simon" last="Woods">Simon Woods</name><affiliation><nlm:aff id="aff1"><institution>PEALS Research Centre, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27049302</idno><idno type="pmc">5027679</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027679</idno><idno type="RBID">PMC:5027679</idno><idno type="doi">10.1038/ejhg.2016.30</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000698</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000698</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">‘You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research</title><author><name sortKey="Mccormack, Pauline" sort="Mccormack, Pauline" uniqKey="Mccormack P" first="Pauline" last="Mccormack">Pauline Mccormack</name><affiliation><nlm:aff id="aff1"><institution>PEALS Research Centre, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Kole, Anna" sort="Kole, Anna" uniqKey="Kole A" first="Anna" last="Kole">Anna Kole</name><affiliation><nlm:aff id="aff2"><institution>EURORDIS</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gainotti, Sabina" sort="Gainotti, Sabina" uniqKey="Gainotti S" first="Sabina" last="Gainotti">Sabina Gainotti</name><affiliation><nlm:aff id="aff3"><institution>Istituto Superiore di Sanità</institution>, Rome,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Mascalzoni, Deborah" sort="Mascalzoni, Deborah" uniqKey="Mascalzoni D" first="Deborah" last="Mascalzoni">Deborah Mascalzoni</name><affiliation><nlm:aff id="aff4"><institution>Centre for Research Ethics & Bioethics, Uppsala University</institution>, Uppsala,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Molster, Caron" sort="Molster, Caron" uniqKey="Molster C" first="Caron" last="Molster">Caron Molster</name><affiliation><nlm:aff id="aff5"><institution>Office of Population Health Genomics</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="aff6"><institution>John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Woods, Simon" sort="Woods, Simon" uniqKey="Woods S" first="Simon" last="Woods">Simon Woods</name><affiliation><nlm:aff id="aff1"><institution>PEALS Research Centre, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Within the myriad articles about participants' opinions of genomics research, the views of a distinct group – people with a rare disease (RD) – are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27049302</article-id><article-id pub-id-type="pmc">5027679</article-id><article-id pub-id-type="pii">ejhg201630</article-id><article-id pub-id-type="doi">10.1038/ejhg.2016.30</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>‘You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research</article-title><alt-title alt-title-type="running">You should at least ask</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>McCormack</surname><given-names>Pauline</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-0172-1753</contrib-id></contrib><contrib contrib-type="author"><name><surname>Kole</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Gainotti</surname><given-names>Sabina</given-names></name><xref ref-type="aff" rid="aff3">3</xref><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-6006-9064</contrib-id></contrib><contrib contrib-type="author"><name><surname>Mascalzoni</surname><given-names>Deborah</given-names></name><xref ref-type="aff" rid="aff4">4</xref><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0003-4156-1464</contrib-id></contrib><contrib contrib-type="author"><name><surname>Molster</surname><given-names>Caron</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hanns</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Woods</surname><given-names>Simon</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><aff id="aff1"><label>1</label><institution>PEALS Research Centre, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></aff><aff id="aff2"><label>2</label><institution>EURORDIS</institution>, Paris,<country>France</country></aff><aff id="aff3"><label>3</label><institution>Istituto Superiore di Sanità</institution>, Rome,<country>Italy</country></aff><aff id="aff4"><label>4</label><institution>Centre for Research Ethics & Bioethics, Uppsala University</institution>, Uppsala,<country>Sweden</country></aff><aff id="aff5"><label>5</label><institution>Office of Population Health Genomics</institution>, Perth, Western Australia,<country>Australia</country></aff><aff id="aff6"><label>6</label><institution>John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University</institution>, Newcastle upon Tyne,<country>UK</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>PEALS Research Centre, Newcastle University</institution>, 4th Floor Claremont Bridge, Newcastle upon Tyne NE1 7RU, <country>UK</country>. Tel: +44 191 208 3261; E-mail: <email>pauline.mccormack@ncl.ac.uk</email></corresp></author-notes><pub-date pub-type="ppub"><month>10</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>06</day><month>04</month><year>2016</year></pub-date><volume>24</volume><issue>10</issue><fpage>1403</fpage><lpage>1408</lpage><history><date date-type="received"><day>19</day><month>11</month><year>2015</year></date><date date-type="rev-recd"><day>27</day><month>01</month><year>2016</year></date><date date-type="accepted"><day>01</day><month>03</month><year>2016</year></date></history><permissions><copyright-statement>Copyright © 2016 Macmillan Publishers Limited</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Within the myriad articles about participants' opinions of genomics research, the views of a distinct group – people with a rare disease (RD) – are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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