Table 2.
Clinical utility of genetic diagnosis in 319 patients
| Genetic Diagnosis | Informing Prognosis, n (%) | Cascade Family Members Screening, n (%) | Additional Workup/Changed Surveillance, n (%) | Tailoring Treatments, n (%) | Kidney Transplant Implications, n (%) | Enrollment in Clinical Trials, n (%) | Reproductive Counseling, n (%) | Additional Genetic Diagnosis, n (%) | Eligibility for Disease-Specific Registries, n (%) |
|---|---|---|---|---|---|---|---|---|---|
| Podocytopathies (n=40) | 3 (7.5) | 6 (15.0) | 6 (15.0) | 15 (37.5) | 16 (40.0) | 0 | 7 (17.5) | 1 (2.5) | 34 (100) |
| Collagenopathies (n=42) | 16 (38.1) | 25 (59.5) | 10 (29.4) | 21 (50.0) | 7 (16.7) | 1 (2.8) | 11 (27.0) | 0 | 34 (100) |
| Tubulopathies (n=96) | 23 (24.0) | 8 (8.3) | 38 (39.6) | 11 (11.5) | 1 (1.0) | 0 | 22 (22.9) | 3 (3.1) | 87 (100) |
| Ciliopathies (n=67) | 16 (23.8) | 16 (23.8) | 33 (49.3) | 6 (8.9) | 8 (11.9) | 1 (1.5) | 24 (29.8) | 3 (4.5) | 60 (100) |
| CAKUT (n=8) | 5 (62.5) | 4 (50.0) | 7 (87.5) | 2 (25.0) | 1 (12.5) | 0 | 1 (12.5) | 0 | 7 (100) |
| Syndromic CKD (n=37) | 15 (40.5) | 8 (21.6) | 30 (81.1) | 18 (48.6) | 5 (13.5) | 0 | 5 (13.5) | 2 (5.4) | 13 (100) |
| Metabolic kidney disorders (n=26) | 9 (34.6) | 5 (19.2) | 9 (34.6) | 15 (69.2) | 0 | 1 (3.8) | 6 (23.1) | 1 (3.8) | 23 (100) |
| Other nephropathies (n=3) | 3 (100) | 2 (66.7) | 2 (66.7) | 2 (66.7) | 0 | 0 | 1 (33.3) | 0 | 34 (100) |
| Total (n=319) | 90 (28.2) | 74 (23.2) | 167 (52.3) | 93 (29.2) | 38 (11.9) | 3 (0.1) | 77 (24.1) | 10 (3.1) | 319 (100) |
For each genetic group of diagnosis (podocytopathies, collagenopathies, tubulopathies, ciliopathies, CAKUT, syndromic CKD, metabolic kidney disorders and other nephropathies), we evaluated the effect of the genetic results (genetic diagnosis) in the clinical management.
Informing prognosis refers to the number (and percentage) of patients who received clarification about prognosis (progression toward kidney failure). Cascade family members screening is the number (and percentage) of families who were offered genetic testing after the results in the patient. Additional workup/changed surveillance is the number (and percentage) of patients who have been referred to other consultants for extrarenal workup or presymptomatic monitoring. Tailoring treatments is the number (and percentage) of patients who changed treatments (including withdrawal of unnecessary therapies or switching to appropriate ones). Kidney transplant implications is the number (and percentage) of patients who received information about donor selection or inscription to the waiting. Enrollment in clinical trials is the number (and percentage) of patients who were enrolled in clinical trials. Reproductive counseling is the number (and percentage) of patients who received dedicated information about the risk of recurrence in the progeny. Additional diagnosis is the number (and percentage) of patients who received additional genetic diagnosis. Eligibility for disease-specific registries is the number (and percentage) of patients whose information can be added in registries recording data about specific diseases. CAKUT, congenital anomalies of the kidney and urinary tract.