Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Fig. 1: Comparison of research and clinical genomics.

References

  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. https://doi.org/10.1093/ndt/gfaa363 (2020).

    Article  PubMed  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding authors

Correspondence to Andrew J. Mallett or Zornitza Stark.

Ethics declarations

Competing interests

The authors declare no competing interests.

Additional information

Related links

Clinical Laboratory Improvement Amendments (CLIA): https://www.cms.gov/regulations-and-guidance/legislation/clia

Human Phenotype Ontology (HPO): https://hpo.jax.org/app/

International Organization for Standardization (ISO): https://www.iso.org/standards.html/

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Mallett, A.J., Knoers, N., Sayer, J. et al. Clinical versus research genomics in kidney disease. Nat Rev Nephrol (2021). https://doi.org/10.1038/s41581-021-00436-0

Download citation

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing