A response to plenary "Deafblindness and Genetics"

Kommentar af Ole E. Mortensen på Bill Kimberlings og Claes Möllers plenumforelæsning "Deafblindness and Genetics - where have we been and where are we going", DbIs verdenskonference i Australien, 27. september 2007

Thank you for a very informative and fact filled presentation with a quite positive overall statement.

I am honored and pleased to have been asked to put forward a response to it – I will do so with a response that will end in a wish.

The future looks bright. We are travelling on a road that is not without sharp stones and obstacles in it, but it certainly seems like one that can be travelled – and the destination looks promising.

The details in your presentation make a lot of questions and comments spring to mind.

We don’t have time for them all, but if we did here are some of them that I would like to ask you and discuss with you and other colleagues.

Where are the many persons with Usher?
How come they haven’t been found yet?
How should we find them? Screening programs? Who will pay? And how do we convince decision makers that it is worth it?
How do we educate physicians on Usher etc.?
Who will convey the right information to the person with Usher – and how?
How do we make sure that the diagnosis is given the best way possible? I heard a Swedish girl tell that when she got her diagnosis all she heard was the doctor telling her all the things she wouldn’t be able to. You won’t be able to do this, you won’t be able to do that… etc. This took her 17 years to get over.
And on the treatments: How realistic are they? (After Kurzweil’s presentation yesterday it seems that anything is possible in the future)
Are the new treatment options only for the ones who are found at an early age?
Does the future hold something for the persons with Usher of today?
Not to mention the ethical aspects that were presented
And many others…

Maybe we will be able to do so over the next days during breaks, lunch etc.

In stead I would like to focus on a whole different aspect that I find of particular relevance and interest here.

There is an increasing amount of scientific knowledge on Usher syndrome – diagnosis, genetics, treatment etc.

Most of this is being published in scientific journals. Yesterday I counted 379 articles with the word Usher in the title on Pubmed, a database of medical articles. And more than a few with Bill Kimberling and/or Claes Möller among the authors!

The main issue for me is this:

A lot of what we could call scientific knowledge is very relevant for practitioners, too counselors, consultants, instructors, teachers, social workers, case workers, vision specialists, hearing specialists etc. - or a person with Usher or a relative.

In your presentation, Claes, you pointed out some situations where scientific knowledge related to Usher syndrome is important.

Among them were

To learn from other experiences
To determine the prognosis of the disorder
To decide on relevant rehabilitation and support
To know what is part of the syndrome and what is not
To counsel and guide persons with Usher and their families
Etc.

These are all instances where the practitioner is at the centre!

So how do we make the two come together – the scientific and the practical aspects?

In other words:

How do we make scientific knowledge

accessible
tangible
relevant
usable
understandable
meaningful

for practitioners?

Let me give you an example:

I attended a workshop - a very interesting one - yesterday where the presentation was based very much on scientific research. At the end, one of the other members of the audience asked a question about the possibilities for integrating this knowledge in education planning.

My wish is this:

That a collaboration between scientists and practitioners would be set up to work for the implementation of scientific knowledge in practice.

I don’t see this as the responsibility of the scientists alone. It has to be a collaboration. Just like the scientists have to make an effort to translate their results into practice, the practitioners have to be able to explain where they are lacking knowledge and how they could see new knowledge be put to use.

Ideally, it would be great if scientists could always say: “This research project is not finished until the results have been implemented in practice.”

I know that in other medical fields implementing research results in medical practice often take several years. Here we seek to implement research results in practice – and we don’t want to take years to do it.

This could be a common goal for scientists and practitioners. I think that this is so important. One of the chapter titles in your presentation was “How we are working together as clinician-geneticist” – we might choose to rephrase this “How we are working together as clinician-geneticist-practitioner”

Of course there are scientific studies that are relevant only to other scientists. But I think that we should work together on implementing all relevant scientific knowledge in practice.

By implementing I mean, as I mentioned earlier, making the research generated knowledge meaningful, relevant and useful.

I am not talking availability - about making copies of articles available on websites and so on. I am not even talking about making presentations based on the research. These can be very interesting and informative for the people present – like the one today.

What I am talking about are scientists and practitioners creating a common understanding of the relevance and implications of new scientific knowledge.

I think this is crucial for ensuring that scientific research becomes really valuable to a large audience.

Someone once said that a symphony that no one listens to, is not a symphony at all. Following that idea, it could be argued in some ways that scientific knowledge that is not implemented in practice, is not knowledge at all.

I think that we – researchers, information people and practitioners – should work together on this in the future internationally, as more and more scientific knowledge will be generated – as you pointed out so well in your presentation.

But the next logical question is then: “HOW should this be done?”

My answer is very simple and clear: I don't know.

If in an ideal world we would get funding for this, we might want to set up a secretariat, run a web site, hire medical journalists work on it, and so on. But this is not feasible.

And to be honest I actually also think that there is a greater value in having the ones with the direct involvement in research and practice work together on it. Maybe it could take the form of a network under DbI? The “Applied Science Network”?

In any case, the crucial issue is this: Do we have the will, and do we have the motivation?

I certainly think there is a need for this. I am not sure how to go about it. But that is my wish.

Thank you.