The John and Marcia Carver Nonprofit Genetic Testing Laboratory

The Problem

1. Rare diseases are common (10% of patients have one -- but there are over 6000 of them).
2. Most rare diseases are genetic.
3. Many rare diseases affect the eye and can cause blindness.
4. In the past 15 years, over 100 genes involved in inherited eye disease have been identified making it at least theoretically possible to provide genetic testing to patients affected with diseases caused by these genes – the majority of these genes were discovered through research funded by the National Eye Institute of the United States.
5. However, the rarity of these diseases has inhibited the development of commercially viable tests so that genetic testing for many inherited eye diseases is not available to most affected patients – even 10 years after the causative genes were identified – this is analogous to the situation for “orphan drugs”.
6. Unlike the design and manufacture of drugs, which will always require significant expenditure of money, the deployment of effective genetic tests can be accomplished with relatively modest equipment whose cost can be distributed over a large number of different tests. However, there are at least two significant obstacles that need to be overcome:
   1. expert knowledge of the clinical features of each gene that will be tested needs to be closely linked to the testing
   2. access to genomic intellectual property
7. Expert, up to date knowledge of the clinical features of genes that cause rare diseases is more commonly found within colleges of medicine than in the corporate sector.
8. Because of the complexity of patent law, especially as it applies to the human genome, the costs associated with patenting or obtaining access to genomic intellectual property may far exceed any reasonable return based on revenue from the limited number of diagnostic tests associated with a rare disease.

Our Vision of the Solution

In the following paragraphs, "rare diseases" are understood to be those that occur in less than 200,000 people in the United States.

1. Tests for rare disease should usually be performed by or in close collaboration with institutions with clinical expertise in the diseases being tested. This would most commonly be a college of medicine that would engage in this activity on a non-profit basis as part of their societal mission.
2. Congress, in an extension of the Rare Disease Act, should grant free access to all intellectual property necessary for performing non-profit genetic tests for rare diseases.

Progress Report

1. The University of Iowa has engaged in research-based genetic testing for rare eye diseases since 1990 (this has been funded in part by a two million dollar endowment from the Carver Charitable Trust and in part by a wide variety of research funds). As more and more genes have been discovered, our capacity to study all patients who might benefit from such analysis has been exceeded -- AND – for most diseases, no viable commercial alternative has appeared to fill this gap.
2. The Carver Laboratory for Molecular Diagnosis within the University of Iowa Center for Macular Degeneration is ready to offer 24 non-profit tests for rare eye diseases (involving 31 genes) immediately – and another 10-20 in the next two years. We have sufficient space, instruments, and trained personnel to do this at a modest volume level and we have room to grow if the program is successful.
3. The laboratory is certified by the College of American Pathologists.
4. National Eye Institute Intramural Scientists, the Foundation Fighting Blindness, Howard Hughes Medical Institute, Carver Charitable Trust, University of Iowa, U of I College of Medicine and U of I Health Care are all supportive of this plan.
5. The next step nationally is to generate some interest in Washington for extending the scope of the Rare Diseases Act to include low- or no-cost access to the intellectual property necessary to perform tests for rare genetic disease. Dr. Stone presented these ideas on Capitol Hill in May, 2003 and we will continue to work on this issue until it is resolved in a fashion that makes genetic testing for rare eye diseases widely available at a reasonable cost.
6. In the meantime, we have conducted extensive research to identify the owners of intellectual property that we believe may be related to the non-profit testing we are doing, and we have sent the following letter to these owners. If any other individual or corporate entity owns intellectual property that they believe is related to our non-profit testing service these, we would welcome communication from them.

Dear Patent Holder,

The University is initiating a program to conduct gene-based diagnostic tests on patients who suffer from any of a number of rare ocular diseases. Because these diseases are rare, there generally has not been commercial interest in providing these services. As a result, the needs of these patients are not being met. With this in mind, the University has decided to offer diagnostic testing for these diseases as a non-profit public service. We intend to focus on the diagnosis of diseases that are not otherwise being diagnosed by commercial services or diagnostic products. Although we expect to charge a modest fee for these services, the fee will be designed to reimburse us only for the actual cost of conducting the diagnostic procedure in our clinical facilities. We do not expect to make any profit from providing these services.

We plan to test patient samples for defects in genes that are implicated in rare ocular diseases, some of which are the subject of patent protection. Because this testing will be provided as a non-profit public service, it is our hope that those who hold patents covering these genes will not object to their use in the program.

Our research indicates that you hold a patent that may cover our proposed use. If that is the case, we would be grateful for your support of this worthwhile program. In recognition of your willingness to permit us to provide these tests, we would be pleased to inform our patients of your kindness, at your request. In the event you feel it necessary to document this arrangement, we can provide you with a simple agreement that we have prepared for this purpose. If, for some reason, you are not able to support this program, please contact us so that we can discuss your concerns.

We hope you will agree with us that the public benefit of providing non-profit diagnostic services for rare eye diseases deserves our shared attention and action.