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Genomic medicine for kidney disease
Emily E Groopman1, Hila Milo Rasouly1, Ali G Gharavi1
1Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Saint Nicholas Avenue, Russ Berrie Pavilion #412C, New York, New York 10032, USA.
Nature Reviews. Nephrology
|January 9, 2018
Summary
Genetic testing advances understanding and management of kidney diseases. Implementing genetic analysis in nephrology requires guidelines to improve patient care and outcomes.
Area of Science:
- Nephrology
- Genetics
- Genomic Medicine
Background:
- Next-generation sequencing and chromosomal microarray have improved understanding of renal disorder molecular pathogenesis.
- Genetic findings increasingly guide clinical management of nephropathies, including surveillance, therapy selection, and family counseling.
- Genetic analysis shows high diagnostic utility in pediatric nephrology for conditions like congenital anomalies of the kidney and urinary tract and steroid-resistant nephrotic syndrome.
Purpose of the Study:
- To review the role and implementation of genetic testing in nephrology.
- To highlight the diagnostic utility and challenges of genetic analysis in kidney diseases.
- To emphasize the need for guidelines in applying genomic medicine to nephrology.
Main Methods:
- Review of advancements in genetic technologies like next-generation sequencing and chromosomal microarray.
- Analysis of current applications of genetic testing in pediatric and adult nephrology.
- Discussion of challenges and considerations for implementing genetic testing in clinical nephrology.
Main Results:
- Genetic testing offers significant diagnostic value in pediatric nephrology.
- Pilot studies indicate potential for genetic testing in adult nephrology.
- Genome-wide sequencing enhances diagnostic sensitivity but presents data interpretation challenges.
Conclusions:
- Genetic diagnosis is crucial for managing various nephropathies.
- Further research and evidence-based guidelines are needed for effective implementation of genetic testing in nephrology.
- Addressing technical, logistical, and ethical questions is essential for realizing the potential of genomic medicine in kidney disease care.
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