The following is a summary of “Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients,” published in the March 2024 issue of Nephrology by Ma et al.

Cardiovascular disease, infection, cancer, and thromboembolism are major reasons behind mortality in kidney transplant recipients (KTR). Identifying genetic conditions correlated with post-transplant complications could help tailor the treatment. 

Researchers conducted a prospective study aiming to detect genetic risks for transplant morbidity panels (355 genes) correlated with heart issues, immunodeficiency, malignancy, and thrombophilia. 

They tested the gene panel with exome sequencing data from 1,590 KTRs. Moreover, genes linked to monogenic kidney and genitourinary disorders and American College of Medical Genetics (ACMG) secondary findings v3.2 were annotated. 

The results showed that diagnostic variants in 37 genes correlated to Mendelian kidney and genitourinary disorders in 9.9% (158/1590) of KTR, with 25.9% (41/158) undiagnosed. The transplant morbidity gene panel identified 56 monogenic disorders in 9.1% of KTRs (144/1590). Cardiovascular disease, malignancy, immunodeficiency, and thrombophilia variants were detected in 5.1% (81), 2.1% (34), 1.8% (29), and 0.2% (3) among 1590 KTRs, respectively. Concordant phenotypes were present in half of the cases. 

Reviewing implications for transplant care, the genetic findings would have allowed physicians to set specific risk factor targets in 6.3% (9/144), arrange intensive surveillance in 97.2% (140/144), utilize preventive measures in 13.2% (19/144), guide disease-specific therapy in 63.9% (92/144), initiate specialty referral in 90.3% (130/144), and alter immunosuppression in 56.9% (82/144).

Investigators concluded that genetic testing for kidney disorders and post-transplant complications identified monogenic disorders in 9.1% of KTR, highlighting the potential for personalized management in transplant care before and after surgery.

Source: kidney-international.org/article/S0085-2538(24)00188-1/fulltext#%20