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

PLoS One. 2017 Sep 29;12(9):e0185779. doi: 10.1371/journal.pone.0185779. eCollection 2017.


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.

MeSH terms

  • Adult
  • Attitude of Health Personnel*
  • Family Planning Services*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Polycystic Kidney, Autosomal Dominant / diagnosis*
  • Polycystic Kidney, Autosomal Dominant / physiopathology
  • Polycystic Kidney, Autosomal Dominant / therapy
  • Surveys and Questionnaires

Grants and funding

CB receives support from the German Research Fund (DFG Collaborative Research Centre (SFB) KIDGEM 1140) and the Federal Ministry of Education and Research (BMBF, 01GM1515C). DM is supported by the Clinical Research Fund of UZ Leuven and by the Fund for Scientific Research (FWO) G0B1313N. DM and MCL are supported by a research grant from the European Society for Pediatric Nephrology. EL is supported by the Fund for Scientific Research, Flanders (FWO) ZKC5782. FJ is a Fellow of the Belgian Fonds National de la Recherche Scientifique (FNRS). FS receives support by the European Commission (EU 7th Framework ProgramFme grant no. 2012-305608 (EURenOmics)). MCL, CB and FS receive funding from the German Federal Ministry of Education and Research (NEOCYST consortium FKZ 01GM1515). SDR is supported by the Fund for Scientific Research, Flanders (FWO) 11M5214N. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.