A couple in Huntsville may know before their first baby is born that the child will suffer from severe birth defects. In another part of the state, doctors could at some point be successful in treating a Mobile woman using cells from her own body.
Both scenarios may sound like science fiction. In reality, they are more like science fact. And while the news about genetic research is making headlines almost weekly, two Birmingham residents say we’ve only seen the beginning of where genetic research may go.
“It’s still young and the future seems extremely bright,” said Wayne Finley, Ph.D., M.D., who is a member of Dawson Memorial Baptist Church, Homewood, along with his wife, Sara Finley, M.D. Both Wayne and Sara have been involved in genetic research and service for more than 80 years combined, and say recent advances have been instrumental in understanding the human body.
Discussing the advances in technology, the Finleys said the world is on the edge of a revolution that could forever change science and medicine.
“Everyone considers that we’re in a biological revolution,” Wayne Finley said. “Someone said the impact is going to be stronger on human welfare than the physics revolution which led to the atomic bomb.”
Now retired, the Finleys established the genetics department at The University of Alabama at Birmingham (UAB). The Finleys, who took the department to national prominence, also served as professors. But teaching genetics is not their only classroom setting.
They also both teach Sunday School at Dawson, thus intertwining a medicine and science background with their Christian faith.
Biographical information on Sara Finley notes she was among the first physicians certified by the American Board of Medical Genetics in 1982 in both clinical genetics and clinical cytogenetics.
Wayne Finley was first a teacher who completed master’s degrees in both secondary education and biochemistry before settling down with degrees in biochemistry and medicine from UAB. He was also an early card-carrying geneticist and with Sara Finley was among the founding fellows of the American College of Medical Genetics.
Wayne Finley said work being done by a team of international scientists on the Human Genome Project has already allowed the mapping of each of the human chromosomes, the molecular chains within cells bearing the genetic recipe to make the human body function. Finley called the development a milestone in the history of medicine.
“I think, though, that is just the beginning of genetics,” he said.
The goal of the Human Genome Project is identifying the thousands of genes that transmit data for everything from brain functions to the color of an individual’s hair and size of his or her feet.
“Now we know the sequences or the genetic materials for humans, along with other organisms,” Wayne Finley said. “This should lead to the identification and development of treatment for a larger number of genetic problems.”
Finley said scientists have now identified approximately 12,000 genetic disorders and the Human Genome Project should open the door to identifying even more.
He predicted it will also lead to research that will identify therapy for genetic problems.
“That may be in the form of gene therapy or it may be the replacement of gene products,” Wayne Finley said. “A gene product is a protein and if you can identify the protein and determine how abnormal it is in an affected person, you might be able to replace the abnormal protein with a normal protein.”
There has been some success with gene therapy, but Wayne Finley said it has been slow.
“We don’t know exactly what direction gene therapy will take,” he said. “The concept’s there and there is a lot of research going on in that area.”
Sara Finley said much of what we know in regard to genetics is already being applied. But like her husband, she said recent advances are only the tip of the iceberg.
“There’s a lot about genetics that we need to learn in terms of just normal growth in cells,” Sara Finley said. “Normal growth and development leaves us with many gaps in our understanding.”
But where is this information taking the world and what implications does it have for the future? The couple said genetic research promises ways to both forecast — and thus prepare for — and treat a wide range of problems that plague humans from conception through adulthood.
One example is the prediction of birth defects.
“Whenever there’s an abnormal chromosome, generally but not always, there will be birth defects,” Sara Finley said.
She added that gene research can also indicate the possibility of someone developing genetic diseases, which show up later in life such as Huntington’s disease. Other examples include diabetes and breast cancer.
Wayne Finley said the breakthrough in genetics is allowing scientists and physicians to more accurately define a genetic disorder. But it also raises a question of how to treat abnormal genes.
“That’s what researchers aim for, trying to understand how a gene functions, how to turn it on, how it’s regulated and how to get it where it needs to be in the body at the proper time,” Wayne Finley said.
Discussing another area of genetic research, he said there is an emphasis on stem cell research, because stem cells are young cells which have not differentiated.
“It has not developed its specialized properties, so if you can get the stem cell and put it in a part of the body that is not functioning properly, turn it on at the appropriate time and get it to produce its products and get its products to interact appropriately with the products from other genes, then you theoretically can cure the problem,” he said.
In other areas of genetics, the couple said people are racing ahead of reality.
Cloning has been done with sheep and other animals and already has governments and religious leaders debating the morality of cloning a human. In this area, though, Sara Finley said the practice so far is still not as practical as some may believe.
“[Human] cloning has not yet been accomplished and probably will not be in the near future,” Sara Finley said.
While some religious leaders have raised concerns with the advances being made in genetics, Wayne Finley said the technology promises the hope for a better tomorrow for all people.
“I would hope within the constraints of Judeo-Christian principles, that we can take out of the research laboratory and apply those things that would promote the welfare of the human population,” Wayne Finley said. “That’s what we’d like to see happen.”
Ethical and religious issues will have to be addressed, with Wayne Finley saying those concerns should be tackled by individuals from different backgrounds “to be able to examine the practices of what we’re going to do in the diagnosis and treatment of genetic disease.”
But the issues that will be raised with this new technology go far beyond the realm of religion.
Sara Finley said the advances also could indicate whether a child has a gene, for example, for muscular dystrophy, another debilitating disease before it becomes symptomatic. Addressing the problems that may arise in this area, she said insurers may be hesitant to cover the child once the diagnosis is established.
A star athlete being offered a scholarship was another analogy she used. She posed the scenario of a college’s hesitancy to offer a scholarship to a youth with a gene for a handicapping disorder diagnosed in early life before any symptoms have appeared.
“This is the type of ethical issue that could ensue,” she said.
“This is a big opportunity for discrimination which we’re very concerned about,” Wayne Finley said. “The utilization of genetic information is complex and we must show compassion.”
Gene testing may indicate if a person will develop Huntington’s disease, a neurological disorder that leads to the degeneration of various body functions. The gene may not manifest until the age of 40, but the Finleys wonder how many teenagers could deal with finding out when they are young that they will develop the disorder later in life.
“How many people, at the age of 15, could handle the information that they’re going to have Huntington’s at age 40?” Wayne Finley asked.
Sara Finley said a youth who clumsily knocks over a glass of tea would normally laugh along with their friends. In the case of someone who knew they were likely to develop Huntington’s, she said they might begin to panic.“Teenagers have enough problems without worrying about that,” she said.
In regard to forecasting birth defects in children, the question arises of the need for giving parents bad news earlier. But the couple said the knowledge a child will be born with birth defects can help parents in planning for the situation.
“One thing you can help with in planning for that child is getting medical care earlier, getting rehabilitation earlier,” Sara Finley said.
Yet another scenario she offers is that of parents who have a tendency toward certain genetic disorders not present in them, but that may be passed along to their offspring. “If a couple knows the risk is real high, they may just elect not to have children or to adopt a child.”
They said genetic counseling is designed to help individuals deal with information they receive from testing. “You’re not trying to make a decision for them, you’re offering them options,” Wayne Finley said.
Sara Finley said there is a sense of satisfaction having worked in a profession where she contributed to making others’ lives better.
“Sometimes we had to give a lot of bad news, but I think by showing compassion and being understanding, sometimes you can be very helpful in what is really a bad situation,” she said. “We often could provide the reassurance that enabled a couple to have a normal healthy baby when without that reassurance they would not have had a child.
“It’s very rewarding to be able to develop a laboratory procedure that can give results which can be utilized in an accurate way with families and answer questions for them,” she added.
“Helping someone should be the goal of every physician,” Wayne Finley said. “It’s a God-given talent and we hope that as the new genetic breakthroughs are incorporated in the practice of medicine, the art of medicine including compassion will keep up with the science of medicine.”
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