Genetic diagnosis for adult patients at a genetic clinic

Abstract

Clinical utility of genetic testing has rapidly increased in the past decade to identify the definitive diagnosis, etiology and specific management. The majority of patients receiving testing is children. There are several barriers for genetic tests in adult patients; barriers may arise from either patients or clinicians. Our study aims to realize the detection rate and the benefits of genetic tests in adults. We conducted a prospective study of 10 adult patients who were referred to a genetic clinic. Exome sequencing (ES) was pursued in all cases, and chromosomal microarray (CMA) was performed for 6 cases. Our result is impressive; six cases (60%) received likely pathogenic and pathogenic variants. Four definitive diagnosis cases with known pathogenic variants inKCNJ2,TGFBR1,SCN1AandFBN1, while another two cases revealed novel likely pathogenic and pathogenic variants inGNB1andDNAH9. Our study demonstrates the success in genetic diagnosis in adult patients, four cases with definitive, two cases with possible, and one case with partial diagnosis. The advantage of diagnosis is beyond obtaining the diagnosis itself, but also relieving any doubt for the patient regarding any previous questionable diagnosis, guide for management and recurrence risk in their children or family members. Therefore, this supports the value of genetic testing in adult patients.