Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.

Purpose: To evaluate the diagnostic yield and clinical relevance of clinical genome sequencing (cGS) as a first genetic test for patients with suspected monogenic disorders.

Methods: We conducted a prospective randomized study with pediatric and adult patients recruited from genetics clinics at Massachusetts General Hospital who were undergoing planned genetic testing. Participants were randomized into two groups: standard-of-care genetic testing (SOC) only or SOC and cGS.

From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.

Background: Genetic testing in nephrology is increasingly described in the literature and several groups have suggested significant clinical benefit. However, studies to date have described experience from established genetic testing centers or from externally funded research programs.

Methods: We established a kidney genetics clinic within an academic adult general nephrology practice.