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Clinical versus research genomics in kidney disease

Key differences exist between clinical and research genomics. As genomic testing is adopted in nephrology clinical care, we propose focusing on clinical genomics approaches to obtain genetic diagnoses in order to ensure optimal use of resources and maximum patient benefit.

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Fig. 1: Comparison of research and clinical genomics.


  1. 1.

    Groopman, E. E. et al. Diagnostic utility of exome sequencing for kidney disease. N. Engl. J. Med. 380, 142–151 (2018).

    Article  Google Scholar 

  2. 2.

    Alkanderi, S., Yates, L. M., Johnson, S. A. & Sayer, J. A. Lessons learned from a multidisciplinary renal genetics clinic. QJM 110, 453–457 (2017).

    CAS  Article  Google Scholar 

  3. 3.

    Mallett, A., Fowles, L. F., McGaughran, J., Healy, H. & Patel, C. A multidisciplinary renal genetics clinic improves patient diagnosis. Med. J. Aust. 204, 58–59 (2016).

    Article  Google Scholar 

  4. 4.

    Sabatello, M. & Milo Rasouly, H. The ethics of genetic testing for kidney diseases. Nat. Rev. Nephrol. 16, 619–620 (2020).

    Article  Google Scholar 

  5. 5.

    Mallett, A. J. et al. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int. 92, 1493–1506 (2017).

    CAS  Article  Google Scholar 

  6. 6.

    Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).

    Article  Google Scholar 

  7. 7.

    Rasouly, H. M. et al. The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing. Ann. Intern. Med. 170, 11–21 (2019).

    Article  Google Scholar 

  8. 8.

    Stark, Z. et al. Integrating genomics into healthcare: a global responsibility. Am. J. Hum. Genet. 104, 13–20 (2019).

    CAS  Article  Google Scholar 

  9. 9.

    Jayasinghe, K. et al. Clinical impact of genomic testing in patients with suspected monogenic kidney disease. Genet. Med. 23, 183–191 (2020).

    Article  Google Scholar 

  10. 10.

    Snoek, R. et al. Genetics-first approach improves diagnostics of ESKD patients younger than 50 years. Nephrol. Dial. Transplant. (2020).

    Article  PubMed  Google Scholar 

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Correspondence to Andrew J. Mallett or Zornitza Stark.

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The authors declare no competing interests.

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Mallett, A.J., Knoers, N., Sayer, J. et al. Clinical versus research genomics in kidney disease. Nat Rev Nephrol (2021).

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