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The Technology Assessment Conference was attended by Ruth Katz, an Association member. Here is her report:
At first sight the large red Masur auditorium at the National Institutes of Health was a daunting sight. Twelve good men and women true came to some difficult deliberations after three days of opinion, evidence, heartsay and hard medical fact. It was a landmark meeting that outlined territory to be further explored including careful study of international existing data .
One criticism I heard of this event is that it was premature; the science and evidence are not advanced enough yet. My answer is that it is important to go ahead with what is available - where we stand at the moment. For those of us whose lives become engulfed and dominated by the functioning of glucocerebrosidase, the enzyme defective in Gauchers disease, this conference presented me with the opportunity to listen to the reasoned opinions of many of the active physicians, researchers and supporters in this radical field of genetic disorders.
What is particularly refreshing is that NIH uses a consensus model to collate this spectrum of information. As a model that enables all interested parties to give their opinion, I believe it valid, realistic and further to be a pioneer in this field.
Right to Treatment
This brings me to the core of the matter. Do we believe access to funding for this treatment is a right? And if so what can we do about it? What part does medical opinion play in this? Ultimately we all want what's best for us. Yet our consultants and health authorities must make hard decisions about who will receive what treatment and perhaps ration access to treatment like Ceredase.
I believe this dilemma is here to stay. Thus it was crucial that the panel were able to say that this treatment should not be regulated by any kind of statutory process. The decision should remain a clinical one reached by the physicians treating us Gaucher people.
It was a victory for good sense and demonstrates rigorous application of principles to a distressing issue and hot debate.
Prof Cox and Dr Mistry's contribution to the treatment of the disease with their research on distribution of the enzyme was influential to the course of the meeting. Given the variability of expression of the infused enzyme (how much of the Ceredase went to the parts where it was needed), questions were raised as how to treat different individuals who present with different signs and symptoms. It was felt that there was insufficient data on dosage and it was recommended that a collaborative study be undertaken.
The Dutch protocol on very low dose therapy which was presented by Dr Carla Hollak was applauded by the panel for its rigorous nature and the way adjustments were made to treatment that started very low. I have to admit concern for a phrase used by Dr Hollak 'sub-optimal dose' in relation to her work and treatment. However this low dose/high dose/no dose issue will be further examined. In the meantime it is up to the treating physician to consider the options and there it must remain.
A Disease of Hope
I would like to conclude by reminding all concerned with this disease that it helps to foster co-operation among individuals and nations. I would like to see the study referred to happen. I would like to see the pathology (the reasons for the disease) explained. I would like to see the low dose/high dose debate looked at so that questions of sub-optimal protocols and rigorous evaluation of optimal response become common and public knowledge. I would like this to be separated from financial implications.
I would like the on-line production of recombinant enzyme (Cerezyme) to happen and be readily available to all. I would like worldwide agreement on funding and access to severity assessment for all who desire it. I would like genetic screening to take a back seat because it is iniquitous. Finally I would like Gauchers disease to become a disease of hope, controlled and mitigated by the appropriate technology, administered sensitively and with dignity.
Source: Gauchers News September 1995
Gauchers News Report of the Technology
Full Text of the Technology Assessment Conference
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