World Orphan Drug Congress LIVE: Opening Keynote Speakers

In Clinical Development, Market Access, Orphan Drug Congress by Freya Smale

We open up today’s event with two keynote speakers, Christoffer Nellaker and Henri Termeer.

Christoffer Nellaker, Research Fellow at the Medical Research Foundation’s Functional Genomics Unit, Oxford University starts his 9am presentation here at World Orphan Drug Congress with data driving diagnostics. He presented clinically relevant information from ordinary photos with an algorithm to aid in diagnoses of rare disease.

Of +7,000 different rare diseases, 30-40% have some type of craniofacial manifestation. The research Christoffer is a part of relates to the next generation of sequencing, which is empowering genetic diagnostics for rare diseases. A featured effort is identifying phenotypic similarities where a pipeline is developed to analyze a photograph and annotate it, accounting for variations in ethnicity, age and gender.

The end result is the clinical face phenotype space clustering which has an automatic separation of different syndromes. In summary, this type of technology can use readily available photos and narrows the search space for syndrome diagnosis. It extrapolates to untrained and unknown developmental disorders.

This completely automatic system produces consistent predictions.  The benefits of it could be missing elements that a human eye can’t catch.  The future of diagnosing is through a photo and implementing software data driving diagnostics to aid in narrowing down a diagnosis.

The second keynote speaker of the morning Henri Termeer, Former Chairman, President and CEO of Genzyme starts his video session on whether or not the market is sustainable. NICE and US payers are recalling orphan drug pricing justification, 340B Rule still up in the air and Congress is planning a rollback on ODA incentives. The main questions in focus: Is the market sustainable? What will the industry look like in 5-10 years? How can we all prepare for it? Are orphan drugs capped at $500k and the payers just exaggerating rare disease patients to reach an unaffordable total?

In short summary, according to Henri, the rare disease market is sustainable, but there is more learning involved.  If there are patients with problems and something could be done, then it must be done. It is now the time to give patients with no future, finally a future. Within the next 20 years, it is very possible that  there will be treatments for diseases and their underlying causes. His belief is that they will also come out with better finance solutions because there are investments still needed to be made, just like the progress in treating cystic fibrosis.

With all the positive outlook, Henri quotes, “The future is extremely bright and the best example is this meeting right now, bringing people all in the same area to network.”