SPOTLIGHT Interview with Steve Groft, ORD-NIH (continued…)

Orphanews: …And what is the impact on GT healthcare expected to be from the public’s point of view?…

SG: For the user families wishing to have appropriate genetic tests for problematic but necessary diagnosis need follow-up interpretation of results too. It’s not enough to simply get the tests back. A well coordinated genotype/phenotype correlation is required to create a public database with corresponding collection and storage facilities. All this has to be closely regulated and constantly improved.

Orphanews: So how do the laboratories go about implementing these standards?

SG: A consortium of 6 labs from the USA and Toronto has already been established to provide infrastructure in order to develop molecular diagnostic testing genetic tests. It’s clear that the same type of framework is now needed for biochemical genetic testing. Labs are currently developing duplicate tests on high-risk samples. These are split and sent off to different labs for diagnosis to confirm diagnoses that might be forthcoming, for higher quality results. This process needs further development but we’re getting there…

Orphanews: And what is the general public’s reaction to recent GT developments in the US ?

SG: There is real need for a major information campaign, to help raise public awareness and understanding of genetics healthcare. As the number of tests on the market rises, so the need for information increases, as the public naturally wishes to make an informed decision themselves for clarifying points on testing, diagnosis, genetic counselling, and so on. A “Gene Review” is being created as part of this information movement. We need to bring all the resources together and develop outwards with a 5-10 year plan taking in orphan product development.

Following on from this, another major concern is how to link academic research to industry? Assessment tools need looking into further for this. Methodology issues must gain regulatory approval. Research needs to be speeded up along with orphan product activities in Australia, Japan, as well as in the EU. Training is another big issue. In Atlanta, the need for a training model was also identified. The idea of a centralised site for lab testing and maintaining appropriate training methods has been put forward, but not yet implemented. Several ideas for sites are being looked into.

Orphanews: What answers did the Atlanta workshop come up with when faced with the challenges of global certification?

SG: Now more than ever before, the GT world needs a truly global approach to certification (rationalisation and pooling of resources, expertise, data) on the international level. After all, no one country has a monopoly on rare diseases knowledge… The OECD is working already and the CDC (Centre for Disease Control) is involved with OECD on this on a state-run programme. The costs involved are dependent on the tests, and with the number of tests and testing sites increasing worldwide, the need for an international accreditation process is self-evident.

With over 1200 genetic tests, 400 of which are only available through research labs, these will need to be made available to the public via the labs. Approval by certification will have to be made on an international basis, with increased collaboration. Rather than leaving things in the hands of individuals, international groups concerned by this issue will come up with a plan then try and overcome the challenges involved to transmit knowledge and implement the plan by bodies such as ORD/NIH.

This should be integrated into the molecular genetic testing programme that’s already established. Rather than establishing a whole new network it’s more cost-effective and pragmatic to integrate into an existing network where necessary, thus avoiding overheads & infrastructure costs and also drawing on previous experience gained. There already exists a model for use due to experience gained from the implementation of CLIA certification.

The international community’s reaction to the CLIA system is positive. At the Atlanta meeting, Orphanet was a tremendous introduction to what is going on within the European Union. We hope US-European relations will benefit from more collaborations of this type. It’s important for us over here in the States to hear about European RD programmes and developments.