After much anticipation, the US Food and Drug Administration delivered its final guidance document on Pharmacogenomic Data Submissions on 22 March.

Companies have eagerly awaited the document since the original mid-2004 release date to see how the agency will interpret the complexities surrounding the use of pharmacogenomics or pharmacogenetics test in conjunction with drug therapy.

But rather than criticizing FDA for delay, the pharmaceutical industry is praising the initiative. “If this had been a watered-down version of the draft guidelines, we'd be saying this is not a clear path, that it'll take longer to be adopted and supported by FDA,” says Kevin Rakin, CEO of Genaissance Pharmaceuticals.

These guidelines will encourage the pharmaceutical industry to take pharmacogenomics more seriously, says Jürgen Drews, former president of R&D at Hoffmann-LaRoche. “So far, it was an option that took time and money, but with no obvious reward to it.” Fearing that pharmacogenomic data would affect drug approvals, many companies have not submitted such data to FDA or avoided research in this area.

The Guidance describes what data will be needed during the review of marketing applications, the format for submissions and the data that will be used during regulatory decision making. In shaping the guidelines, FDA took the bold step of having peer-to-peer scientific discussions with companies. “FDA has never had informal meetings with industry in the past,” says Lawrence Lesko, FDA's director of the Office of Clinical Pharmacology and Biopharmaceutics.

Part of the delay in releasing the final document stemmed from the need for separate reviews at the centres for the evaluation of drugs, biologicals and devices. “That was an unusual step for us,” says Lesko. “But pharmacogenomics is intertwined into the business of all them.”

Another problem was the amount and quality of test data voluntarily submitted by companies to help develop the guidelines. “FDA went in thinking there would be a large amount of data with real products, but the submission rate has been slower,” says Allen Roses, Senior Vice President, Genetics Research, at GlaxoSmithKline. FDA has had ten formal submissions and meetings with companies, according to Lesko, and much of the data are difficult to interpret. “That's not a surprise,” he says.

The agency is keen to receive and learn from more exploratory data, and the Guidance explains that any so-called Voluntary Genomic Data Submission (VGDS) of research data will be reviewed purely to help FDA and industry gain experience in developing and handling pharmacogenomic data. Wyeth says it has learnt a lot from its two VGDS submissions. “We got a better feel for how [FDA] would like to see data extracted from clinical databases,” says Andrew Dorner, Senior Director, Translational Research at Wyeth Research. “It's coloured how we complete the design of our systems for data processing and analysis.”

The guidance also addresses another of industry's concerns by setting criteria for which genomic tests are valid biomarkers (see Box). Those details, along with fuller description of the operating procedures companies can follow, “will give industry confidence — seeing them in black and white”, says Chris Webster, Director, Regulatory Strategy and Intelligence for Millennium Pharmaceuticals.

However, differences remain around the eagerness of companies to use the process. Plus, although many large drug companies have strong internal pharmacogenomics groups, mid-sized companies, which have good drugs and a more local clientele, usually do not have extensive knowledge and resources in this area, says Drews. “However, with the biotech companies, they can probably become the motor of propagating pharmacogenomics standards.”

Releasing the Guidance should change that thinking. “FDA doesn't spend its resources, which are in constant stress in a variety of directions, to work hard and issue this kind of document unless they see it as the future,” suggests Samuel Broder, Chief Medical Officer at Celera Genomics.

“FDA has now made it clear that as the technology base grows, it will move toward stricter regulatory rules,” says Drews. The decision by FDA to publish “is a definitive step in favour of the progressive forces in industry and biotech.”