Knowledge of nephrologists and patients about autosomal dominant polycystic kidney disease (ADPKD)

Area of Science:

• Nephrology
• Medical Genetics
• Public Health

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder.
• Presymptomatic genetic testing for ADPKD is available, necessitating genetic counseling.
• Understanding of ADPKD inheritance and its hereditary nature is crucial for at-risk individuals.

Purpose of the Study:

• To assess the response of nephrologists, patients, and at-risk relatives to a new genetic counseling program for ADPKD.
• To identify barriers and facilitators in the delivery of genetic information for ADPKD.
• To evaluate patient and relative understanding of ADPKD inheritance.

Main Methods:

• A survey was distributed to nephrologists regarding their practices and interest in genetic counseling referrals.
• Interviews were conducted with ADPKD patients and their at-risk relatives to assess their understanding of the disease.
• Uptake of genetic counseling appointments by patients offered the service was tracked.

Main Results:

• Most surveyed nephrologists informed patients about the hereditary nature of ADPKD and expressed interest in referrals, though relative screening varied.
• A significant portion of interviewed patients and relatives demonstrated poor understanding of ADPKD inheritance mechanisms.
• Only a minority of patients offered genetic counseling made appointments, indicating low uptake.

Conclusions:

• There is a substantial gap between the availability of genetic testing technology for ADPKD and the effective delivery of information to at-risk populations.
• Improved patient and family education regarding ADPKD genetics is needed.
• Further strategies are required to enhance the uptake of genetic counseling services for hereditary kidney diseases.