What does the FDA expect in 2023 for the submission of pharmacogenomic data as part of INDs or NDAs? In 2023, DNA chips have been replaced by DNA and RNA sequencing. In 2023, drug metabolizing enzyme pharmacogenomics now coexist with pharmacogenomic biomarkers across clinical areas, diseases, therapies and platforms.

Many of the challenges from 2004 are still with us. Twenty years after its first version, we have a Pharmacogenomics Data Submission guidance which lists data that must be submitted as well as the format in which these data should be submitted.


In the shadows of this guidance, however, is the complexity of regulatory compliance for pharmacogenomic testing. Twenty years ago, DNA chip platforms didn’t make it into viable and reliable GLP compliant platforms. Today, the expectation is that all sequencing, qPCR and other genomic testing for INDs and NDAs will be with GLP compliant tests. Genomic testing platforms are being developed with GLP compliance integrated in their development.

The evolution of genomic tests used in clinical development of therapeutic products into genomic tests for companion diagnostics is a major difference between 2004 and 2023. CDx test approvals started around 2004, and have been drivers since then for the development of pharmacogenomics testing as a whole. By the same token, CDx testing is in itself an additional burden on healthcare costs. Its value has been demonstrated over and over again, but even today, a broad clinical adoption of pharmacogenomic testing beyond clinical development remains far from universal. CDx tests may be approved by the FDA only to languish in competition with Laboratory-Developed Tests, and novel targeted therapies approved together with CDx tests are adopted only slowly, initially as the only remaining therapeutic alternatives for patients.

CDx tests are covered by the development and regulatory advice of the CDx guidance, while the Pharmacogenomics guidance addresses exclusively drug development applications of pharmacogenomics testing. A successful dialogue between these two guidances will be required for the future of pharmacogenomics.


 

• • • For publication_Pharmacogenomic Data Submissions_DraftGuidance_3.16.23.pdf