Work

Towards precision nephrology: the opportunities and challenges of genomic medicine

Year: 2017

Type: review

Abstract: The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.

Source: Journal of Nephrology

DOI: 10.1007/s40620-017-0448-0

Authors: Jordan G. Nestor, Emily E. Groopman, Ali G. Gharavi

Institutions: Columbia University Irving Medical Center, Columbia University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases