Gene Patent Leads to Legal Action
American Medical Association announcement
http://www.ama-assn.org/ama/pub/category/3358.html
A lawsuit has been filed in Chicago Federal court (October
30, 2000) over a commercial genetic test developed from
the gene discovery of the Canavan gene (ASPA). This is the latest
battle over who controls, as well as who benefits from, medical research
related to genetics.
In 1987 the Greenbergs, a family devastated by having
two children born with Canavan disease collaborated with a scientist,
Reuben Matalon, to search for the Canavan gene. Canavan disease is due
to a deficiency of the enzyme aspartoacylase (ASPA) encoded by the gene
ASPA (located at chromosomal locus 17p13). It is characterized by evidence
of developmental delays by three to five months of age, severe hypotonia
and failure to achieve early developmental goals such as independent
sitting, ambulation, and/or speech. Hypotonia evolves into spasticity
and assistance with feeding becomes necessary. Life expectancy is usually
into the teens. The disease affects 1 in 6400 Ashkenazi Jewish children,
thus the carrier rate in Ashkenazi Jews is 1 in 40 (for more on Canavan
disease http://www.geneclinics.org/profiles/canavan/).
The initial collaboration between Matalon and the Greenbergs
was beneficial both to the other affected families, as well as the scientific
community at large. A registry of families with Canavan was established
which helped recruit tissue donors. The gene was eventually found six
years later in 1993 and Matalon then was able to develop a genetic test
for Canavan disease. At that time Matalon was employed by Miami Children's
Hospital (MCH), which obtained a patent on the gene in 1997. Then, in
1998 MCH began licensing their gene test that has the power to identify
Canavan mutations. The test is primarily used for genetic counseling
to identify specific disease-causing alleles in affected individuals,
to clarify the carrier status of the relatives of an affected individual
and spouse, for carrier
testing in individuals of Ashkenazi Jewish heritage, and for prenatal
testing in at-risk pregnancies.
The patent of the Canavan gene does not in itself cause the problems
that are the focus of the suit, filed by the Canavan Foundation of New
York City, Dor Yeshorim of Brooklyn, New York, the National Tay-Sachs
& Allied Diseases Association Inc., as well as four parents. The
main issue that is the basis for the suit is the way in which MCH has
chosen to use the tissue samples to develop a commercial test that it
has then enforced a licensing fee upon. There is the potential to impede
access to care for individuals that may not be able to afford the fee.
This may be the first time tissue donors have taken researchers to court
for control of a genetic test.
Setting a precedent may be difficult through this legal
action. However, other support groups are trying to divert such eventualities
by working out legal agreements in advance. For example, a support group
for families with pseudoxanthoma elasticum (PXE), an inherited disease
that causes calcification of connective tissue (for more on PXE http://www.pxe.org),
has been negotiating the terms of tissue donation with researchers since
a gene was discovered in February, 2000. This agreement is not for the
support group to benefit financially, but to inhibit a commercial laboratory
to exclusively profit.
It is important to note that the lead researcher who was
involved with the gene discovery and test development, Dr. Matalon,
now at the University of Texas, Galveston, claims no stake in the dispute,
and does not benefit financially. Matalon does state that the Canavan
parents helped him to get started by contributing tissue and research
seed money, as did MCH.
Canavan Disease at GeneClinics
