Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods
<p>Abstract</p> <p>Background</p> <p>Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2012-09-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://www.biomedcentral.com/1471-2350/13/87 |
| _version_ | 1818562744999215104 |
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| author | Hollands Gareth J Armstrong David Macfarlane Angela Crook Martin A Marteau Theresa M |
| author_facet | Hollands Gareth J Armstrong David Macfarlane Angela Crook Martin A Marteau Theresa M |
| author_sort | Hollands Gareth J |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of screening, whether the outcome is positive or negative. Such concern is heightened for genetic testing, which it is feared may elicit stronger reactions than non-genetic testing.</p> <p>Methods</p> <p>This paper draws on thematic analysis of 113 semi-structured interviews with 39 patients being tested for familial hypercholesterolaemia (FH), an inherited predisposition to early-onset heart disease. It examines the impact of disease risk assessments based on both genetic and non-genetic information, or solely non-genetic information.</p> <p>Results</p> <p>The impact of diagnostic testing did not seem to vary according to whether or not genetic information was used. More generally, being given a positive or negative diagnosis of FH had minimal discernible impact on people's lives as they maintained the continuity of their beliefs and behaviour.</p> <p>Conclusions</p> <p>The results suggest that concerns about the use of genetic testing in this context are unfounded, a conclusion that echoes findings from studies in this and other health contexts.</p> |
| first_indexed | 2024-12-14T01:07:46Z |
| format | Article |
| id | doaj.art-d8f9dc463a2b4954b8fb5aa9dc38691b |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-14T01:07:46Z |
| publishDate | 2012-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-d8f9dc463a2b4954b8fb5aa9dc38691b2022-12-21T23:22:54ZengBMCBMC Medical Genetics1471-23502012-09-011318710.1186/1471-2350-13-87Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methodsHollands Gareth JArmstrong DavidMacfarlane AngelaCrook Martin AMarteau Theresa M<p>Abstract</p> <p>Background</p> <p>Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of screening, whether the outcome is positive or negative. Such concern is heightened for genetic testing, which it is feared may elicit stronger reactions than non-genetic testing.</p> <p>Methods</p> <p>This paper draws on thematic analysis of 113 semi-structured interviews with 39 patients being tested for familial hypercholesterolaemia (FH), an inherited predisposition to early-onset heart disease. It examines the impact of disease risk assessments based on both genetic and non-genetic information, or solely non-genetic information.</p> <p>Results</p> <p>The impact of diagnostic testing did not seem to vary according to whether or not genetic information was used. More generally, being given a positive or negative diagnosis of FH had minimal discernible impact on people's lives as they maintained the continuity of their beliefs and behaviour.</p> <p>Conclusions</p> <p>The results suggest that concerns about the use of genetic testing in this context are unfounded, a conclusion that echoes findings from studies in this and other health contexts.</p>http://www.biomedcentral.com/1471-2350/13/87Behaviour changeGeneticsGenetic testingHealth behaviourRiskQualitative |
| spellingShingle | Hollands Gareth J Armstrong David Macfarlane Angela Crook Martin A Marteau Theresa M Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods BMC Medical Genetics Behaviour change Genetics Genetic testing Health behaviour Risk Qualitative |
| title | Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods |
| title_full | Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods |
| title_fullStr | Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods |
| title_full_unstemmed | Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods |
| title_short | Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods |
| title_sort | patient accounts of diagnostic testing for familial hypercholesterolaemia comparing responses to genetic and non genetic testing methods |
| topic | Behaviour change Genetics Genetic testing Health behaviour Risk Qualitative |
| url | http://www.biomedcentral.com/1471-2350/13/87 |
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