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. Author manuscript; available in PMC: 2019 Feb 1.
Published in final edited form as: J Nephrol. 2017 Oct 17;31(1):47–60. doi: 10.1007/s40620-017-0448-0

Table 1.

Next-Gen Nephrology: Opportunities and Challenges

Step Key questions Helpful strategies
Refer patient for genetic testing
  • For which patients is genetic testing indicated?

  • How to ensure all patients have equal access to genetic testing?

  • Large sequencing studies in diverse CKD patient cohorts to ascertain indications for genetic testing in nephrology

  • Culturally sensitive outreach initiatives to facilitate access for minority and underserved populations

Clinical sequence interpretation
  • How to identify diagnostic variants amidst the vast amount of sequence data generated by genome-wide testing?

  • Creation of disease-specific variant interpretation guidelines for different hereditary nephropathies

  • Use of diverse control population genetic databases to help filter a patient’s sequence data

  • Clinical database review and correction of misclassified variants

Return of results
  • Which results warrant return?

  • How should they be returned to the patient?

  • Consensus guidelines regarding which results merit return, given the clinical context

  • Patient education and pre- and post-test counseling to ensure informed consent and empower individuals’ decision-making

Apply genetic findings to provide personalized care
  • What is clinical significance of the genetic findings, and the indicated workup and management?

  • How to protect patients from genetic discrimination and other misuse of genetic data?

  • Long-term studies of the impact of genetic findings on clinical outcomes to enable creation of best practice guidelines for workup and treatment

  • EHR tools to help physicians utilize genetic findings in everyday clinical care

  • Further legislative efforts to protect the autonomy and privacy of patients undergoing genetic testing