AustralieFrV1, PascalFrancis, Curation, bibRecord, 000E98

Effect of family history on disclosure patterns of cystic fibrosis carrier status

Identifieur interne : 000E98 ( PascalFrancis/Curation ); précédent : 000E97; suivant : 000E99

Effect of family history on disclosure patterns of cystic fibrosis carrier status

Auteurs : Kelly E. Ormond [Australie] ; Patti L. Mills [États-Unis] ; Lucille A. Lester [Australie] ; Lainie F. Ross [Australie, France]

Source :

American journal of medical genetics [ 0148-7299 ] ; 2003.

RBID : Pascal:03-0422363

Descripteurs français

Pascal (Inist)
- Mucoviscidose, Dépistage, Prénatal, Tumeur, Hétérozygotie, Détection, Homme, Etude familiale, Porteur, Maladie héréditaire, Conseil génétique, Génétique.
Wicri :
- topic : Homme, Génétique.

English descriptors

KwdEn :
- Carrier, Cystic fibrosis, Detection, Family study, Genetic counseling, Genetic disease, Genetics, Heterozygosity, Human, Medical screening, Prenatal, Tumor.

Abstract

As general population screening becomes more common, an increasing number of cystic fibrosis (CF) carriers will be identified who do not have a family history of CF. Whether these carriers inform their relatives of their carrier status and whether their relatives are motivated to pursue carrier screening is unknown. We surveyed CF carriers with and without a family history of CF to understand whether and how information dissemination patterns differ, why information is or is not shared, and to what extent relatives are known to undergo testing CF carriers were identified from a general population carrier screening clinic (group B = 18) or were parents of affected children followed at a CF clinic (group A = 30). CF carriers with a family history told essentially 100% of their living parents, siblings, and half-siblings, while those without a family history told 84% of living parents and 56% of siblings (P< 0.05). Despite the high rate of information dissemination in both groups, few siblings were known to have undergone carrier screening (14/74). Significantly fewer second- and third-degree relatives were informed about carrier status or were known to have undergone carrier screening. Group A was more likely to inform second- and third-degree relatives about carrier status. Our study documents that the frequency and reasons for disclosing CF carrier status differ between individuals with and without a family history of CF despite the fact that the reproductive risks for their relatives are the same.

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A30	`01`	`1`	`ENG`	`@1 A Decade of ELSI Research: A Celebration of the First Ten Years of the Ethical, Legal, and Social Implications (ELSI) Programs. Conference @3 INC @4 2001-01`

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Le document en format XML

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<front><div type="abstract" xml:lang="en">As general population screening becomes more common, an increasing number of cystic fibrosis (CF) carriers will be identified who do not have a family history of CF. Whether these carriers inform their relatives of their carrier status and whether their relatives are motivated to pursue carrier screening is unknown. We surveyed CF carriers with and without a family history of CF to understand whether and how information dissemination patterns differ, why information is or is not shared, and to what extent relatives are known to undergo testing CF carriers were identified from a general population carrier screening clinic (group B = 18) or were parents of affected children followed at a CF clinic (group A = 30). CF carriers with a family history told essentially 100% of their living parents, siblings, and half-siblings, while those without a family history told 84% of living parents and 56% of siblings (P< 0.05). Despite the high rate of information dissemination in both groups, few siblings were known to have undergone carrier screening (14/74). Significantly fewer second- and third-degree relatives were informed about carrier status or were known to have undergone carrier screening. Group A was more likely to inform second- and third-degree relatives about carrier status. Our study documents that the frequency and reasons for disclosing CF carrier status differ between individuals with and without a family history of CF despite the fact that the reproductive risks for their relatives are the same.</div>
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<fC01 i1="01" l="ENG"><s0>As general population screening becomes more common, an increasing number of cystic fibrosis (CF) carriers will be identified who do not have a family history of CF. Whether these carriers inform their relatives of their carrier status and whether their relatives are motivated to pursue carrier screening is unknown. We surveyed CF carriers with and without a family history of CF to understand whether and how information dissemination patterns differ, why information is or is not shared, and to what extent relatives are known to undergo testing CF carriers were identified from a general population carrier screening clinic (group B = 18) or were parents of affected children followed at a CF clinic (group A = 30). CF carriers with a family history told essentially 100% of their living parents, siblings, and half-siblings, while those without a family history told 84% of living parents and 56% of siblings (P< 0.05). Despite the high rate of information dissemination in both groups, few siblings were known to have undergone carrier screening (14/74). Significantly fewer second- and third-degree relatives were informed about carrier status or were known to have undergone carrier screening. Group A was more likely to inform second- and third-degree relatives about carrier status. Our study documents that the frequency and reasons for disclosing CF carrier status differ between individuals with and without a family history of CF despite the fact that the reproductive risks for their relatives are the same.</s0>
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</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Prenatal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Prenatal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Tumeur</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Tumor</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Tumor</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Hétérozygotie</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Heterozygosity</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Heterozigosis</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Détection</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Detection</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Detección</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Homme</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Human</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Hombre</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Family study</s0>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Porteur</s0>
<s5>18</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Carrier</s0>
<s5>18</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Portador</s0>
<s5>18</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>19</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>19</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>19</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Conseil génétique</s0>
<s5>20</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Genetic counseling</s0>
<s5>20</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Consejo genético</s0>
<s5>20</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Génétique</s0>
<s5>21</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Genetics</s0>
<s5>21</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Genética</s0>
<s5>21</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pancréas pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Pancreatic disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Páncreas patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Appareil digestif pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Digestive diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Aparato digestivo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Appareil respiratoire pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Respiratory disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Aparato respiratorio patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>293</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
<pR><fA30 i1="01" i2="1" l="ENG"><s1>A Decade of ELSI Research: A Celebration of the First Ten Years of the Ethical, Legal, and Social Implications (ELSI) Programs. Conference</s1>
<s3>INC</s3>
<s4>2001-01</s4>
</fA30>
</pR>
</standard>
</inist>
</record>

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Effect of family history on disclosure patterns of cystic fibrosis carrier status

Effect of family history on disclosure patterns of cystic fibrosis carrier status

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