Power to the People!

This week I attended a meeting held by the Society for Genomics Policy and Public Health entitled ‘Genetics and Health Promotion’. It was extremely interesting and posed two very significant questions. How do scientists translate genetic research into effective therapeutics and how is this then effectively pitched to public health strategists? Having thought about these questions it’s clear that there are two equally distinct answers.

The first question is really a matter of efficient workflow and technology transfer. If a scientist discovers a potential drug target, the next logical step would be to carry out extensive functional experiments and validation assays to verify this finding which can then lead to possible drug discovery or synthetic chemistry to come up with a suitable ligand or therapeutic agent. Most Universities are now very astute at recognising intellectual property and commercially viable research, so in fact getting to the point where a ‘Eureka’ moment in the labs turns into Clinical Trials is not so intangible anymore (if over simplified here). This is mostly because many research institutions now recognise the importance of forming close inter-departmental relationships and agreements with biotech companies to enable such ideas to reach fruition. But what happens when a potential new drug is available – who says it gets prescribed?

This is especially significant for individuals who have rare diseases, the minority voice that often doesn’t get heard, or gets drowned out. As is the case with Birt-Hogg-Dube syndrome, I’ve read several patient testimonials where people have had to educate their own family doctors on the disease. To ask their doctor to book them in for a CT scan and then to explain why this is necessary. Unfortunately whilst this isn’t fair, it is necessary and this is why individuals who share rare syndromes should interact with each other. What therapies have they tried out that have worked? Are there any new treatments that they have been made aware of that someone half way round the world could go and tell their doctor about? Is there a new clinical trial in a specific Medical Genetics unit that would interest people nearby? The importance of patient groups shouldn’t be underestimated. The psychological benefits of knowing there are people out there, who are going what you are going through are tremendous, but more so, the "lobbying power" such groups have is also commendable. Patient groups are able to prioritise their health care needs and make those needs known to medical professionals if given the proper support.

www.BHDSyndrome.org - the online reference site for anyone interested in BHD Syndrome