Genetidoc Review Finds Care Changes in 27 of 100 Genetic Testing Cases

Genetidoc Genetic Clinic and DNA Testing Lab has published the second version of its GDGrade™ white paper, outlining a six-pillar quality standard for genetic testing and reporting findings from an internal review of 100 selected cases that required clarification of external genetic reports.

The review covered cases examined between August 2025 and August 2026. According to the company, reassessment led to changes in care in 27 cases, while the original findings and care plans were confirmed in the remaining 73.

The GDGrade™ framework is built around six pillars: right test, right processing, right analysis, right interpretation, right communication and right action. It covers diagnostic testing, pregnancy and fertility assessments, inherited and tumour-related cancer testing, and preventive genetic testing.

The standard specifies a mean sequencing depth of more than 100× for exomes and germline panels, gene-by-gene coverage checks for clinically relevant genes, and confirmation of significant findings using a second method before decisions are based on them. It also includes pre-test and post-test counselling and support for referring doctors.

Of the 27 cases in which care changed, 14 involved issues with the external test or report, while 13 were linked to other gaps in the testing process, including test selection, missing confirmation or inadequate explanation. Five reassessments identified previously missed diagnoses, while three corrected tumour-related reports.

In one case, additional mitochondrial DNA testing identified a genetic cause after an earlier exome test had not examined mitochondrial DNA. The finding provided the family with information for future pregnancy planning.

In another case, a reported breast cancer-associated genetic variant was based on approximately six sequencing reads. An independent test using a fresh sample found that the variant was not genuine, helping the patient avoid surgery. The company also reported issuing a reanalysis report within 24 hours in an urgent newborn case.

The company clarified that the 27 per cent figure is not an overall genetic-testing error rate. The cases had been selected because they required clarification, and the review was conducted internally by a multidisciplinary team. The findings had not been peer-reviewed.

Genetidoc said it would continue updating the standard and its findings as more cases are reviewed.