<p>Current practice on informing the patient about the possibility of (a) prenatal genetic diagnosis by chorionic villus sampling or amniocentesis and (b) pre-implantation genetic diagnosis (PGD) for ADPKD.</p

Bert Bammens (4479691)

Carsten Bergmann (468004)

Djalila Mekahli (4479700)

Elena Levtchenko (311960)

Franz Schaefer (143847)

François Jouret (2967819)

Jonathan Kringen (4479685)

Koenraad Devriendt (264256)

Max Christoph Liebau (4479694)

Pascal Borry (2228425)

Peter Janssens (4479688)

Stéphanie De Rechter (4479697)

peer reviewedSeveral ethical aspects in the management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) are still controversial, including family planning and testing for disease presence in at-risk individuals. We performed an online survey aiming to assess the opinion and current clinical practice of European pediatric and adult nephrologists, as well as geneticists. A total of 410 clinicians (53% male, mean (SD) age of 48 (10) years) responded, including 216 pediatric nephrologists, 151 adult nephrologists, and 43 clinical geneticists. While the 3 groups agreed to encourage clinical testing in asymptomatic ADPKD minors and adults, only geneticists would recommend genetic testing in asymptomatic at-risk adults (P<0.001). Statistically significant disagreement between disciplines was observed regarding the ethical justification of prenatal genetic diagnosis, termination of pregnancy and pre-implantation genetic diagnosis (PGD) for ADPKD. Particularly, PGD is ethically justified according to geneticists (4.48 (1.63)), whereas pediatric (3.08 (1.78); P<0.001) and adult nephrologists (3.66 (1.88); P<0.05) appeared to be less convinced. Our survey suggests that most clinicians support clinical testing of at-risk minors and adults in ADPKD families. However, there is no agreement for genetic testing in asymptomatic offspring and for family planning, including PGD. The present data highlight the need for a consensus among clinicians, to avoid that ADPKD families are being given conflicting information

De Rechter, Stephanie

Kringen, Jonathan

Janssens, Peter

Liebau, Max Christoph

Devriendt, Koenraad

Levtchenko, Elena

Bergmann, Carsten

Jouret, François

Bammens, Bert

Borry, Pascal

Schaefer, Franz

Mekahli, Djalila

Open Repository and Bibliography - Liège

Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.

Stéphanie De Rechter

Jonathan Kringen

Peter Janssens

Max Christoph Liebau

Koenraad Devriendt

Elena Levtchenko

Carsten Bergmann

François Jouret

Bert Bammens

Pascal Borry

Franz Schaefer

Djalila Mekahli

Crossref

PLoS ONE

Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

Jouret, Francois

Kölner UniversitätsPublikationsServer

CAREGIVERS' ATTITUDE TOWARDS FAMILY PLANNING AND TIMING OF DIAGNOSIS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Several ethical aspects in the management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) are still controversial, including family planning and testing for disease presence in at-risk individuals. We performed an online survey aiming to assess the opinion and current clinical practice of European pediatric and adult nephrologists, as well as geneticists. A total of 410 clinicians (53% male, mean (SD) age of 48 (10) years) responded, including 216 pediatric nephrologists, 151 adult nephrologists, and 43 clinical geneticists. While the 3 groups agreed to encourage clinical testing in asymptomatic ADPKD minors and adults, only geneticists would recommend genetic testing in asymptomatic at-risk adults (P<0.001). Statistically significant disagreement between disciplines was observed regarding the ethical justification of prenatal genetic diagnosis, termination of pregnancy and pre-implantation genetic diagnosis (PGD) for ADPKD. Particularly, PGD is ethically justified according to geneticists (4.48 (1.63)), whereas pediatric (3.08 (1.78); P<0.001) and adult nephrologists (3.66(1.88); P<0.05) appeared to be less convinced. Our survey suggests that most clinicians support clinical testing of at-risk minors and adults in ADPKD families. However, there is no agreement for genetic testing in asymptomatic offspring and for family planning, including PGD. The present data highlight the need for a consensus among clinicians, to avoid that ADPKD families are being given conflicting information

Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease

Several ethical aspects in the management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) are still controversial, including family planning and testing for disease presence in at-risk individuals. We performed an online survey aiming to assess the opinion and current clinical practice of European pediatric and adult nephrologists, as well as geneticists. A total of 410 clinicians (53% male, mean (SD) age of 48 (10) years) responded, including 216 pediatric nephrologists, 151 adult nephrologists, and 43 clinical geneticists. While the 3 groups agreed to encourage clinical testing in asymptomatic ADPKD minors and adults, only geneticists would recommend genetic testing in asymptomatic at-risk adults (P<0.001). Statistically significant disagreement between disciplines was observed regarding the ethical justification of prenatal genetic diagnosis, termination of pregnancy and pre-implantation genetic diagnosis (PGD) for ADPKD. Particularly, PGD is ethically justified according to geneticists (4.48 (1.63)), whereas pediatric (3.08 (1.78); P<0.001) and adult nephrologists (3.66 (1.88); P<0.05) appeared to be less convinced. Our survey suggests that most clinicians support clinical testing of at-risk minors and adults in ADPKD families. However, there is no agreement for genetic testing in asymptomatic offspring and for family planning, including PGD. The present data highlight the need for a consensus among clinicians, to avoid that ADPKD families are being given conflicting information

Directory of Open Access Journals

Zipfel, Annette

Ingenpaß, Regina

Grund, Karl E.

Publikationsserver der Universität Tübingen

Lege artis - Das Magazin zur ärztlichen Weiterbildung

Sonden legen: Nasogastrale sonden

<div><p>Several ethical aspects in the management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) are still controversial, including family planning and testing for disease presence in at-risk individuals. We performed an online survey aiming to assess the opinion and current clinical practice of European pediatric and adult nephrologists, as well as geneticists. A total of 410 clinicians (53% male, mean (SD) age of 48 (10) years) responded, including 216 pediatric nephrologists, 151 adult nephrologists, and 43 clinical geneticists. While the 3 groups agreed to encourage clinical testing in asymptomatic ADPKD minors and adults, only geneticists would recommend genetic testing in asymptomatic at-risk adults (<i>P</i><0.001). Statistically significant disagreement between disciplines was observed regarding the ethical justification of prenatal genetic diagnosis, termination of pregnancy and pre-implantation genetic diagnosis (PGD) for ADPKD. Particularly, PGD is ethically justified according to geneticists (4.48 (1.63)), whereas pediatric (3.08 (1.78); <i>P</i><0.001) and adult nephrologists (3.66 (1.88); <i>P</i><0.05) appeared to be less convinced. Our survey suggests that most clinicians support clinical testing of at-risk minors and adults in ADPKD families. However, there is no agreement for genetic testing in asymptomatic offspring and for family planning, including PGD. The present data highlight the need for a consensus among clinicians, to avoid that ADPKD families are being given conflicting information.</p></div

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Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease - Fig 3

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Sonden legen: Nasogastrale sonden

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Kölner UniversitätsPublikationsServer

Kölner UniversitätsPublikationsServer

Directory of Open Access Journals

Publikationsserver der Universität Tübingen

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