Mapping Of Human Genome Is a First Step To Many Answers

From the WebMD Archives

April 12, 2000 (Atlanta) -- The mapping of the entire genetic material in humans will no doubt have a seismic affect on medicine in the future. But what kind of medical breakthroughs can we expect to come out of the research, and who will most benefit?

Researchers have been racing to be the first to map the human genome -- the complete set of human genes -- in an effort known as the human genome project. Knowing the function of each part of the DNA could potentially lead to the development of drugs tailored to each individual?s genetic make-up. Doctors would be able to pick the medication that would work best for you, and to reduce the chance of side effects.

Already, DNA research has given doctors the ability to target the proper doses of some drugs to people, and to rule out certain drugs for people in whom they are likely to cause side effects. A genetic 'smart card' -- a plastic card encoded with a person?s genetic information that patients could present to doctors to help them make treatment choices -- is likely not far off.

"Maybe the best thing about having the human genome in hand is that it opens up a tremendous number of possibilities to us," Elaine Mardis, PhD, tells WebMD. But, she says, "the scenarios and how they play out are largely speculative at this point." Mardis is the assistant director of the genome sequencing center at Washington University in St. Louis.

"I think most reasonably well-informed people understand the sequence won?t provide immediate answers," Mardis says. The fundamental premise of the human genome project, and all it can really provide, Mardis says, "is that overwhelmingly, as far as genes go, one person is reasonably close to another person." The problem, she says, it?s the abnormal, or mutated, genes that cause disease, and the genome project won?t answer the questions about all those potentially lethal genes.

The new discoveries promise to be a golden opportunity for drug companies, though, as there?s a lot of money to be made in discovering new medications. And that, of course, is a golden opportunity for people with a variety of ailments.

The first benefits we're likely to see from the project, though, will be in the ability to test people for certain diseases that are due to abnormal genes they possess, such as Alzheimer?s disease, Mardis says.

She is also hopeful that researchers may be able to stop genes that are responsible for certain deadly diseases, such as cancer. Although some diseases, such as cystic fibrosis, are caused by a single abnormal gene, many are due to more than one bad gene. So finding one genetic mutation may not be the only piece to the puzzle.

Genetic material by no means contains all the answers to medical mysteries. With ailments like high blood pressure, heart disease, and stroke, Mardis says, finding a responsible gene will help identify people at risk for the disease, but a healthy lifestyle will still play a role in fighting it.

Although mapping the human genome will not lead to immediate results, it?s an accomplishment that brings a lot of hope.

"It lays a huge puzzle out in front of us, and that sounds like a bad thing, but without the pieces of the puzzle we wouldn?t have anywhere to start," Mardis says. "It?s going to fuel medical research for the next 20 or 30 years in a huge, huge way."

Vital Information:

  • The human genome project may provide a blueprint of human genetics, but experts say developing it will only mark the beginning of the research. Scientists still have to figure out how to use the information.
  • Scientists know some diseases, like cystic fibrosis, are caused by one defective gene. But experts say there are probably several genes involved with developing most diseases. Also, researchers need to consider other factors in disease, such as environmental influences.
  • Understanding people's genetic makeup also could help doctors predict their patients' future health. But knowing someone is at risk of developing a disease doesn't mean doctors can do anything to prevent or treat it.