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April 21, 2000/16 Nisan 5760, Vol. 52, No.33
Eighth day of creation
Genetic research holds promise of world without disease, disability
VICKI CABOT
Contributing Editor
Professor Tamar Peretz, director of the Sharett Institute of Oncology at the Hadassah-Hebrew University Medical Center in Jerusalem, in her lab where she discovered BRCA1 and BRCA2, the genetic mutations that give certain women a higher incidence of breast cancer.
Photo courtesy of Hadassah, The Women's Zionist Organization of America |
Soon no child may be born with Tay
Sachs.
Or Gaucher.
Or Canavan
disease.
Scientists are unlocking the secrets of the human genetic code and learning to repair or replace damaged genes, making the heartbreaking diagnosis of these dread diseases, which strike with higher incidence among Jews, a thing of the past.
But in presenting us with the wondrous prospect of a disease-free, disability-free world, researchers are also raising difficult issues of moral responsibility.
How will genetic testing and therapy be used - and to what end?
Who will have access to the new technology - and how and by whom will those decisions be made?
The recent announcement by Maryland-based Celera Corporation that it has successfully decoded the human genome is shifting research and development into high gear. Celera, a private corporation formed in 1998, leaped ahead of a public consortium of university centers in the United States and Europe that has been working for the last decade to crack the genetic code.
"Your children are going to grow up in a different world," says an ebullient Elliott Goldstein, an Arizona State University geneticist, of the breakthrough. "Medicine 20 years from now will be as different as it was for your grandparents in the 1920s before we had antibiotics and other miracle drugs."
Goldstein studies inherited mutations in flies, noting that their genetic make-up simulates much of the human genetic structure.
"Half to three-quarters of human disease genes are in a fly," he says.
Goldstein explains the far-reaching implications of being able to detect mutated genes.
"Every human condition except blunt force trauma has an underlying genetic basis," he says. And each of us carries 20 recessive mutations, which if paired with an appropriate mate, could result in disease.
Researchers are striving to develop ways for identifying mutated genes and then learning how to repair or replace them.
"In theory, we should be able to cure any and everything," says Goldstein, though he remains convinced that "we can't ever wipe out illnesses and infirmities." Still, science holds the potential to reduce substantially their incidence.
Shmuel Penchas, retired director-general of Hadassah Medical Organization, calls this tantalizing prospect "the eighth day of creation."
Penchas, in Phoenix recently to speak to local Hadassah supporters, oversaw the establishment more than 15 years ago of Hadassah's genetic engineering laboratory. Among laboratory researchers' achievements was the discovery of the BRCA1 and BRCA2 genetic mutations that have been linked to a higher incidence of breast cancer among Jewish women of Eastern European descent.
"We were the early starters," Penchas says proudly.
He notes, however, that the breast cancer breakthrough was developed concurrently with researchers at the National Institute of Health in Bethesda, Md. Hadassah researchers played a small role in the genome project.
"You cannot be successful now if you hide in a basement somewhere," he says. "You have to interact internationally and be active in an all-encompassing environment."
Yet while noting the benefits of collaboration - and competition - Penchas reminds that groundbreaking discoveries don't just happen.
"Don't underestimate the drudgery of science," he says. "There is a lot of nitpicking and pea counting. You have to be thorough, and it takes some back-breaking work."
The current challenge, he says, is finding ways not only to remove the damaged genes and replace them, but also to position them properly.
"We need a postman to ring once to enter the cell, and then once to enter the nucleus to deliver a bit of the genetic code into the slot."
He says that Hadassah researchers are working "on making a controlled ballistic missile to deliver the code."
Goldstein calls the new cutting edge research "extraordinarily exciting," yet tempers his enthusiasm with the need for education and careful consideration of its use - and misuse. Five percent of the genome project money has been earmarked for research on ethical issues.
"Science is moving faster than people can absorb," he says. "Like atomic energy in the 1940s, we don't see all its implications."
One sticky issue that has surfaced is discrimination in insurance coverage. If genetic testing can uncover a predisposition to a particular condition or disease, would such test results preclude coverage? Hadassah is actively raising public awareness and lobbying for federal legislation for non-discriminatory coverage.
Goldstein, an associate professor of microbiology, says that education is key. "People can't make informed decisions if they don't know," he says.
And it is in the larger issues, which have inherent moral implications, that that knowledge may prove most critical.
Becca Hornstein, executive director of the Council for Jews with Special Needs, calls genetic testing a "Pandora's box." Hornstein, whose agency provides resources and support for families of children with a wide range of illnesses and disabilities, is the mother of two special-needs children. Twenty-six-year-old Joel is autistic; 23-year-old Shana was born with missing fingers and a clubfoot.
New advances in prenatal testing may help families determine if there are serious genetic problems, then present them with agonizing choices. Some may choose to avail themselves of now-experimental techniques for in utero genetic repair, invasive treatment with inherent risks. Others may choose to terminate a pregnancy.
"And others may simply let the child be born and deal with whatever comes," says Hornstein.
In addition, she says, testing that shows evidence of a disability may not reveal its degree.
"How do you make the decision if (the doctors) can't tell you precisely where on the spectrum will this child's defect, disability or delay be - and you have two weeks to figure it out?"
When Jennifer and Steven Schwarz considered starting their family, Jennifer Schwarz was determined not to find herself in that situation. A cousin's 4-year-old child has Canavan disease, an incurable disorder that causes mental retardation and often is fatal in childhood.
Schwarz knew she might be a carrier of the genetically transmitted disease.
"I was tested prior to becoming pregnant because I knew the situation with (my cousin) Jakie. I saw the struggle my family has gone through and felt it was important to know."
The test was negative, and Jennifer Schwarz gave birth to a healthy son, Max Logan, on April 11.
Schwarz says that she doesn't know what the couple would have done if testing had confirmed her fears. "You don't know what you will do until the test comes back positive," she says. "Each family has to decide."
The issue raises an essential halachic (Jewish legal) question, says Rabbi David Rebibo.
"On the one hand we have the prospect of detecting disease, but on the other, not to have children is unacceptable in halacha," he says.
Advances in genetic testing and therapy are posing new conundrums that rabbis worldwide are researching and discussing.
"These are potentially explosive issues because you are dealing with human beings," says Rebibo.
Rebibo says the possibility for misuse is diminished when physicians see themselves as "divine agents," respectful of the sanctity of life and committed to preventing disease.
Penchas says that the rabbinic establishment in Israel has been most supportive of the work Hadassah is doing. He bristles at what he terms the "loose talk" of an Orwellian world in which individuals would be created to cookie-cutter standards.
"There is a danger," he says, "but there are many other things that will indeed be misused. We cannot prevent developments because of our fears."
Others worry that the miraculous elimination of disease and disability will make us less compassionate and caring people.
"Maimonides says that we need the poor more than the poor need us," Rebibo offers by way of analogy.
Hornstein cautions that we must work harder to promote tolerance and value difference.
And while Jennifer Schwarz' hope is that someday families will not have to know the devastation of Canavan disease, Goldstein, the geneticist, celebrates human diversity even as he works to eliminate some of its more debilitating conditions.
"We are what we are for a reason," says the geneticist.
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