Endocrine Abstracts

Background: Confirming a genetic diagnosis earlier in patient pathways has multiple benefits: it informs and directs clinical management, enables patients to access support organisations, and helps patients adjust to their lifelong condition. This audit assessed the appropriate usage of genetic testing within Endocrinology at Birmingham Heartlands Hospital (BHH). The key three outcomes investigated were whether genetic testing was being appropriately ordered; whether test consent was being documented and whether the results were being appropriately communicated to patients.

Methods: An audit of all patients who had a genetic test requested by an Endocrinologist at BHH, between January 2021 and March 2022 (to allow time for receipt and communication of results) was conducted. Patients were identified from a laboratory database of DNA extraction. Data was extracted retrospectively using a piloted tool by two reviewers, including consent documentation, test indications, genetic test results, and results communication. The National Test Genomic Directory criteria was used to determine appropriate test usage.

Results: 32 patients had a test requested in the audit period. 15.6% of tests yielded a positive result. 91% referred for genetic testing met the test criteria3. However, only 62.5% of patients had a consent form uploaded to their electronic records. 87.5% of patients had evidence that their results had been communicated to them. In the four cases where there was no documentation that the result had been communicated the requesting Endocrinologist was contacted by the audit team.

Conclusions: This audit identified appropriate ordering of genetic testing by the Endocrinology department of BHH but also a lack of documentation of test consent and incomplete evidence of result communication to patients. With increased availability and awareness of genetic testing, all centers will require robust processes to ensure accurate consent documentation and result communication. Following dissemination of our results within the department a re-audit is planned.