Genome chief: on awe and imperfect beings

Christian Century, July 17, 2002 by Bob Smietana

Physician-geneticist Francis Collins believes in original sin--at least on the biological level. "There are no perfect human specimens at the DNA level," said Collins, director of the National Human Genome Research institute. "We are all walking around with a significant number of misspellings [in our DNA]."

Most people have some 40 to 50 glitches in their DNA, according to Collins, who oversees the Human Genome Project, a group of 20 research centers in six countries that published a draft of the human genome in February 2001. And most of the glitches never cause any problems, said Collins. But a glitch in the wrong place or exposed to the wrong environment can be fatal.

Collins spoke in Chicago last month to the annual convention of the Christian Medical and Dental Associations, to which the doctor belongs. For the first time ever, human beings are able to understand the genome--"our God-given instruction book," he said. "It has been a wonderful privilege to be able to unravel the mystery of God's creation, to see things that humans have never seen before and that God knew all along."

The most amazing part of the genome is its simplicity, said Collins. All the information is encoded in a simple alphabet of four letters--A, C, G and T (adenine, cytosine, guanine and thymine)--which spell out the 3 billion-character-long genome. "What still seems astounding to me," said Collins, "is that one of those letters out of place in the wrong spot can cause a terrible disease. One out of 3 billion."

Collins called the genome project "a bright light we can shine into the darkness of our ignorance about almost every disease," and predicted that within five to seven years, scientist will discover the genes responsible for ailments like Alzheimer's, Parkinson's disease, diabetes and heart disease. He argued that most of those ailments will be treated with pharmogenetics--drugs designed to address specific genes or DNA misspellings.

One such drug, Gloevec, is used in clinical trials to treat chronic myeloid leukemia by targeting an abnormal protein that binds to a gene. Collins said the drug has proved more than 95 percent effective in treating patients "who had few options and were pretty close to the end."

While the advances in understanding hold promise for treating people, problems exist. Most new techniques are expensive and may not be available to all people. And genetic information may be used to discriminate against people with increased risk factors and who may have their health insurance canceled or lose their jobs. "That isn't right," he said. "We all have these genetic glitches--we didn't pick them. It is not just, but it is possible in our system."

Some at the CMDA convention said genetic information may be used for more sinister purposes, not unlike the use of eugenics by the Nazis to try breeding a superior race of people. John Patrick, a pediatrics professor at the University of Ottawa and a convention speaker, said prenatal genetic testing has already caused a decline in the number of children with birth defects like cystic fibrosis, since many parents are choosing to abort fetuses testing positive for the disease.

According to the Guardian newspaper, mass screenings for the birth defect spina bifida in Great Britain have caused a 95 percent decrease in the number of children born with the condition--a decrease due mainly to abortion. And courts in Canada and France have found doctors guilty of "unlawful birth" for prenatal testing that misdiagnosed children with birth defects. "We used to believe every human creature was worthy of honor and respect because they were made in the image of God," Patrick said. Now, he said, society lacks a moral consensus on what it means to be a human being, and cannot deal with the implications of the advances in genetics.

In his address, Collins acknowledged that doctors will face challenges in dealing with advances in genetics. "It's going to take all of our best efforts," he said, "both as physicians and as Christians to make certain the outcome is one that God will approve of."

One challenge is cloning. Collins raised the possibility that within five years, researchers could create a clone without using a female egg. Dolly the sheep was cloned by taking an unfertilized egg and replacing its nucleus with a nucleus from an adult cell. Instead, said Collins, researchers will use chemicals to "turn back the clock" on the cell to a stage where it was pluripotent, or capable of becoming any type of cell. That cell could then be use to create a clone.

"At what point does that entity become sacred?" he asked. "When does this entity gain a soul? When does the soul come in? ... If it's not sacred and then you drop it into a test tube and it becomes sacred--that doesn't feel right."--Bob Smietana, RNS