Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience

Area of Science:

• Nephrology
• Medical Genetics
• Reproductive Medicine

Background:

• Genetic testing is crucial for diagnosing kidney diseases and offers reproductive counseling benefits.
• Preimplantation genetic testing for monogenic disease (PGT-M) enables significant risk reduction for familial genetic disorders.
• This study reviews the use of PGT-M for conditions involving kidney disease.

Purpose of the Study:

• To summarize the experience with PGT-M for genetic conditions with kidney involvement.
• To analyze trends in PGT-M utilization for kidney-related diseases.

Main Methods:

• Reviewed PGT-M tests performed between September 2010 and July 2020.
• Analyzed clinical indications, disease types, genes, inheritance patterns, and referral trends.
• Focused on cases with a renal component, requiring prior molecular genetic diagnosis.

Main Results:

• Autosomal dominant polycystic kidney disease (PKD1/PKD2) was the most common targeted condition (16.5%).
• The top 5 referral indications comprised over half of the cases (51.9%).
• Autosomal recessive inheritance was common (52.0%), and PGT-M tests for kidney disease increased from 5 (2010) to 47 (2020).

Conclusions:

• The use of PGT-M for kidney-related genetic conditions is common and rising.
• This underscores the reproductive significance of molecular genetic diagnoses for kidney disease patients.
• Increased accessibility of genetic testing and nephrologist utilization drives this trend.