GENETIC TESTING: Families Sue Hospital, Scientist for Control of Canavan
Gene

Science, Volume 290, Number 5494, Issue of 10 Nov 2000, p. 1062.

URL: http://www.sciencemag.org/cgi/content/summary/290/5494/1062

Eliot Marshall

A successful partnership between parents and a scientist to combat a
deadly genetic disease has dissolved into a bitter legal battle over the
commercial tests used to identify people with dangerous mutations in
their genes. The lawsuit, filed on 30 October in Chicago federal court,
is the latest dispute in the growing controversy over who controls and
who benefits from human genetics research.

Thirteen years ago, the father of two children suffering from Canavan
disease--a fatal illness whose symptoms begin appearing 3 months after
birth--approached a scientist named Reuben Matalon and persuaded him to
begin developing molecular probes to trace the disease to its source.
They also set up a registry of families and helped recruit tissue
donors. The disease, which affects 1 in 6400 Ashkenazi Jewish children,
is caused by a mutation on chromosome 17 that leads to a deficiency of
the enzyme aspartoacylase, gradually destroying the central nervous
system. With the families' support, Matalon found a Canavan gene in 1993
and developed a genetic test. Matalon's employer at the time, Miami
Children's Hospital (MCH), obtained a patent on the gene in 1997, and
the next year began licensing a test that could identify lethal Canavan
mutations.

The terms of that license are the focus of the suit, filed by four
parents and three nonprofit groups. They charge that Matalon and MCH are
guilty of "misappropriation of trade secrets" based on their use of the
children's blood and tissue, without consent, to secure a gene patent
and develop a commercial test. Laurie Rosenow, an attorney at the
Chicago-Kent College of Law in Chicago, Illinois, who helped prepare the
complaint, says that this is the first time tissue donors have taken
researchers to court for control of a gene. "It's a unique case" that
could shape future genetic research partnerships, she adds.

Other patient groups are trying to head off such clashes 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, has been negotiating the terms of
tissue donation with researchers since a gene was discovered in
February. Sharon Terry, president
of PXE International in Sharon, Massachusetts, hopes to sign an
agreement soon with the gene discoverers and their employer, the
University of Hawaii, to share control of patents. The support group has
promised to pick up the patent application costs.

But there was no such agreement to clarify the roles of researchers and
tissue donors when Daniel Greenberg, father of a child with Canavan
disease, visited Matalon in 1987 to propose a collaboration. Greenberg
heads the list of plaintiffs in the Canavan suit, which includes the
Canavan Foundation of New York City, Dor Yeshorim of Brooklyn, New York,
and the National Tay-Sachs & Allied Diseases Association Inc. of
Brighton, Massachusetts. The suit seeks to block MCH's commercial use of
the Canavan gene and recover damages of more than $75,000 derived from
royalties collected on the Canavan test.

The plaintiffs object to the $12.50 royalty fee MCH is charging. In
addition, according to the complaint, they claim that MCH has tried to
restrict access and promote a lead test center by setting a limit on the
number of tests that can be performed by each licensee. The Canavan
Foundation was forced to stop offering free genetic screening, according
to the complaint, after being advised that it would have to pay
royalties and comply with other licensing terms.

Matalon, who now works at the University of Texas, Galveston, says he
has no stake in the dispute. "I get no royalties, no benefit from it,"
he says. "My interests have nothing to do with patents."

Matalon acknowledges that the Canavan parents helped him to get started
by contributing tissue and "seed money" amounting to no more than
$100,000. But MCH provided $1 million a year, he says, and in return
asked him to turn over any marketable intellectual property. "They say,
'Let us know [about discoveries], and we will decide about the patent.'
"

The parents' complaint includes a copy of a 12 November 1998 letter from
MCH's chief financial officer, David Carroll, to a clinic testing for
Canavan disease. Noting that users of the test must obtain a license
from MCH, Carroll wrote, "We intend to enforce vigorously our
intellectual property rights relating to carrier, pregnancy, and patient
DNA tests."

MCH spokesperson Cynthia Gutierrez declined to discuss the case, citing
the ongoing litigation. The Canavan parents also have decided not to
comment.

The suit highlights the key role that families can play in helping
scientists with their research. Judith Tsipis, a biologist and genetic
counselor at Brandeis University in Waltham, Massachusetts, who lost a
son to Canavan disease, notes that the Canavan families identified
families at risk and collected tissues. The legal battle, she insists,
"is not about the Canavan families wanting a piece of the pie," but
about having a say in how their contributions are used.