Kidney Week

Abstract: FR-PO1127

Integration of Genetic Testing in Kidney Transplant Evaluation for Donors and Recipients: A Single-Centre Experience

Session Information

• Transplantation: Clinical - Transplant Access, Recipient Evaluation, Living Donors, Pregnancy, and More
  October 23, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Transplantation

• 2002 Transplantation: Clinical

Authors

• Elawad, Saffa M., Hamad Medical Corporation, Doha, Qatar

Saffa M. Elawad, MBBS, MS, MSc, FASN

• Al-Malki, Hassan A., Hamad Medical Corporation, Doha, Qatar

Hassan A. Al-Malki, MD

• Hamdi, Ahmed Farouk, Hamad Medical Corporation, Doha, Qatar

Ahmed Farouk Hamdi, MD

• Nauman, Awais, Hamad Medical Corporation, Doha, Qatar

Awais Nauman, MD

• Abdelaziz, Adel Ashour, Hamad Medical Corporation, Doha, Qatar

Adel Ashour Abdelaziz, MD

• Alkadi, Mohamad M., Hamad Medical Corporation, Doha, Qatar

Mohamad M. Alkadi, MD

• Hassan, Aly Mostafa, Qatar University, Doha, Qatar

Aly Mostafa Hassan, MD

Group or Team Name

• Nephrology team, Hamad Medical corporation - Qatar

Background

Genetic testing in kidney transplantation is underused due to gaps in variant interpretation. This study assesses variant stratification, donor risk, genotype–phenotype links, and VUS impact.

Methods

We performed a retrospective observational study of kidney transplant recipients and related donors referred for genetic evaluation at a single centre.
Recipients were selected and concelled (Figure 1). Genetic reports were reviewed manually, and variants were classified as pathogenic, likely pathogenic, or VUS.
Analyses focused on variant stratification, genotype or phenotype correlations, and implications for donor risk and transplant decision making.

Results

We analyzed 453 genetic reports (119 recipients, 334 donors/family). Most recipient variants were VUS (88.4%), while 22.5% carried pathogenic/likely pathogenic variants. Recurrent VUS in CD2AP, FAT1, COL4A3/4/5, CUBN, and KANK genes highlight podocyte and basement membrane pathways as priorities for variant reclassification.

Conclusion

Before transplant, genetic testing found pathogenic variants in around 25% of recipients, supporting diagnostic value. High VUS rates highlight interpretation challenges and the need for structured stratification.
High recurrence of VUS in podocyte and collagen genes indicates these are priority targets for reclassification studies

Acknowledgment

Nephrology and Transplant Department, Hamad General Hospital, Hamad Medical Corporation, Qatar
Genetics Department, Hamad Medical Corporation.
Transplantation and Organ Donation, Hamad Medical Corporation

Distribution of Most Frequent Variants of Uncertain Significance (VUS): Frequency and Percentage

Funding

• Other NIH Support