Refer patient for genetic testing |
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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
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Clinical sequence interpretation |
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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
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Return of results |
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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
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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?
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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
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