Establishing technological leadership

Although it is evolving rapidly, the commercialization of genetic content is still in its infancy, as indicated by the widespread lack of reliable and robust data to support its clinical utility. A review of recent findings, both in scientific publications and press announcements, shows that the vast majority of alleged genetic correlations are either not powerful enough to demonstrate the correlation and/or not repeatable once a replication study is attempted. This underscores the need for a more robust and reliable approach.

Perlegen’s studies are carefully designed, with sufficient numbers of patients to demonstrate the size of effect that is appropriate for clinical utility, and are then replicated to ensure that the result observed is a real and consistent finding, not a “false positive” or other statistically incorrect finding. This scientific care has meant that many early associations (for which we already have provisional patent filings) have needed replication sample sets before any association could be positively claimed. Since these replication sample sets, in many instances, haven’t existed, this is an additional rationale for—and benefit from—our ability to identify and access specific phenotypes from datasets encompassing millions of patients.

Critical to our approach to the discovery of genetic content is our ability to:

• Efficiently access and screen millions of patient records, with careful attention to preserving and protecting patient privacy
• Rapidly obtain the requisite Institutional Review Board (IRB) approvals at DNA collection sites
• Coordinate the collection of those DNA samples through a network of treating physicians

Perlegen’s top-down, strategically driven approach starts with compelling clinical medical questions and targets products accordingly, rather than simply creating offerings that correspond to questions addressable by existing (and often inadequate) DNA sample sets