Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study
Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin. Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a la...
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| Veröffentlicht in: | Genetics in medicine 2006-11, Vol.8 (11), p.681-687 |
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| creator | Anderson, Roger T. Wenzel, Lari Walker, Ann P. Ruggiero, Andrea Acton, Ronald T. Hall, Mark A. Tucker, Diane C. Thomson, Elizabeth Harrison, Barbara Howe, Edmund Holup, Joan Leiendecker-Foster, Catherine Power, Tara Adams, Paul |
| description | Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin.
Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening.
Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload.
Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype. |
| doi_str_mv | 10.1097/01.gim.0000245631.07117.ac |
| format | Article |
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Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening.
Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload.
Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1097/01.gim.0000245631.07117.ac</identifier><identifier>PMID: 17108759</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>acceptance ; Adult ; Aged ; Attitude to Health ; ethics ; Ethnicity ; Female ; Genetic Testing - psychology ; HEIRS ; Hemochromatosis ; Hemochromatosis - genetics ; Hemochromatosis - psychology ; Humans ; Iron Overload - diagnosis ; Male ; Middle Aged ; Mutation ; primary care ; Quality of Life ; screening ; Social Class</subject><ispartof>Genetics in medicine, 2006-11, Vol.8 (11), p.681-687</ispartof><rights>2006 The Author(s)</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c461t-68e82f428d2f67d1dfc041bb081bb888416bf755c972c94b4602709f7ca4f8353</citedby><cites>FETCH-LOGICAL-c461t-68e82f428d2f67d1dfc041bb081bb888416bf755c972c94b4602709f7ca4f8353</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906,64366</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17108759$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Anderson, Roger T.</creatorcontrib><creatorcontrib>Wenzel, Lari</creatorcontrib><creatorcontrib>Walker, Ann P.</creatorcontrib><creatorcontrib>Ruggiero, Andrea</creatorcontrib><creatorcontrib>Acton, Ronald T.</creatorcontrib><creatorcontrib>Hall, Mark A.</creatorcontrib><creatorcontrib>Tucker, Diane C.</creatorcontrib><creatorcontrib>Thomson, Elizabeth</creatorcontrib><creatorcontrib>Harrison, Barbara</creatorcontrib><creatorcontrib>Howe, Edmund</creatorcontrib><creatorcontrib>Holup, Joan</creatorcontrib><creatorcontrib>Leiendecker-Foster, Catherine</creatorcontrib><creatorcontrib>Power, Tara</creatorcontrib><creatorcontrib>Adams, Paul</creatorcontrib><title>Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><description>Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin.
Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening.
Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload.
Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.</description><subject>acceptance</subject><subject>Adult</subject><subject>Aged</subject><subject>Attitude to Health</subject><subject>ethics</subject><subject>Ethnicity</subject><subject>Female</subject><subject>Genetic Testing - psychology</subject><subject>HEIRS</subject><subject>Hemochromatosis</subject><subject>Hemochromatosis - genetics</subject><subject>Hemochromatosis - psychology</subject><subject>Humans</subject><subject>Iron Overload - diagnosis</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>primary care</subject><subject>Quality of Life</subject><subject>screening</subject><subject>Social Class</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkcFu1TAQRSMEoqXwC8hiwS5hxklspztUWqhUiU1ZW4496TNK4oftFHXJn2N4TyoSC_DCtqwz90o-VfUGoUEY5DvA5s4vDZTFu1602IBElI2xT6pT7FuooRXiabnDoOpWAJxUL1L6CoCy5fC8OkGJoGQ_nFY_rpe9sZmFie1oCXYXw2JySD6xZCPR6tc75le2N9nTmhP77vOuPDjKFBe_mkwsUtrmnM7Z7Y7-SjGrYz6GlYV7inMw7o_clDf38LJ6Npk50avjeVZ9ubq8vfhU33z-eH3x_qa2ncBcC0WKTx1Xjk9COnSThQ7HEVTZlFIdinGSfW8Hye3QjZ0ALmGYpDXdpNq-PaveHnL3MXzbKGW9-GRpns1KYUtaKOw5b_k_QSwNLXJVwPMDaGNIKdKk99EvJj5oBP3LlAbUxZR-NKV_m9LGluHXx5ZtXMg9jh7VFODDAaDyKfeeok62KLDkfCSbtQv-f3p-Ao7jqX4</recordid><startdate>200611</startdate><enddate>200611</enddate><creator>Anderson, Roger T.</creator><creator>Wenzel, Lari</creator><creator>Walker, Ann P.</creator><creator>Ruggiero, Andrea</creator><creator>Acton, Ronald T.</creator><creator>Hall, Mark A.</creator><creator>Tucker, Diane C.</creator><creator>Thomson, Elizabeth</creator><creator>Harrison, Barbara</creator><creator>Howe, Edmund</creator><creator>Holup, Joan</creator><creator>Leiendecker-Foster, Catherine</creator><creator>Power, Tara</creator><creator>Adams, Paul</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200611</creationdate><title>Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study</title><author>Anderson, Roger T. ; Wenzel, Lari ; Walker, Ann P. ; Ruggiero, Andrea ; Acton, Ronald T. ; Hall, Mark A. ; Tucker, Diane C. ; Thomson, Elizabeth ; Harrison, Barbara ; Howe, Edmund ; Holup, Joan ; Leiendecker-Foster, Catherine ; Power, Tara ; Adams, Paul</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c461t-68e82f428d2f67d1dfc041bb081bb888416bf755c972c94b4602709f7ca4f8353</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>acceptance</topic><topic>Adult</topic><topic>Aged</topic><topic>Attitude to Health</topic><topic>ethics</topic><topic>Ethnicity</topic><topic>Female</topic><topic>Genetic Testing - psychology</topic><topic>HEIRS</topic><topic>Hemochromatosis</topic><topic>Hemochromatosis - genetics</topic><topic>Hemochromatosis - psychology</topic><topic>Humans</topic><topic>Iron Overload - diagnosis</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>primary care</topic><topic>Quality of Life</topic><topic>screening</topic><topic>Social Class</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Anderson, Roger T.</creatorcontrib><creatorcontrib>Wenzel, Lari</creatorcontrib><creatorcontrib>Walker, Ann P.</creatorcontrib><creatorcontrib>Ruggiero, Andrea</creatorcontrib><creatorcontrib>Acton, Ronald T.</creatorcontrib><creatorcontrib>Hall, Mark A.</creatorcontrib><creatorcontrib>Tucker, Diane C.</creatorcontrib><creatorcontrib>Thomson, Elizabeth</creatorcontrib><creatorcontrib>Harrison, Barbara</creatorcontrib><creatorcontrib>Howe, Edmund</creatorcontrib><creatorcontrib>Holup, Joan</creatorcontrib><creatorcontrib>Leiendecker-Foster, Catherine</creatorcontrib><creatorcontrib>Power, Tara</creatorcontrib><creatorcontrib>Adams, Paul</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Anderson, Roger T.</au><au>Wenzel, Lari</au><au>Walker, Ann P.</au><au>Ruggiero, Andrea</au><au>Acton, Ronald T.</au><au>Hall, Mark A.</au><au>Tucker, Diane C.</au><au>Thomson, Elizabeth</au><au>Harrison, Barbara</au><au>Howe, Edmund</au><au>Holup, Joan</au><au>Leiendecker-Foster, Catherine</au><au>Power, Tara</au><au>Adams, Paul</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study</atitle><jtitle>Genetics in medicine</jtitle><addtitle>Genet Med</addtitle><date>2006-11</date><risdate>2006</risdate><volume>8</volume><issue>11</issue><spage>681</spage><epage>687</epage><pages>681-687</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin.
Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening.
Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload.
Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>17108759</pmid><doi>10.1097/01.gim.0000245631.07117.ac</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | acceptance Adult Aged Attitude to Health ethics Ethnicity Female Genetic Testing - psychology HEIRS Hemochromatosis Hemochromatosis - genetics Hemochromatosis - psychology Humans Iron Overload - diagnosis Male Middle Aged Mutation primary care Quality of Life screening Social Class |
| title | Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study |
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