Keesler genetics lab helps doctors, patients fight

  • Published
  • By Steve Hoffmann
  • 81st Training Wing Public Affaris
Many times, medicine is a war - doctors helping patients or parents of patients fight against whatever disease or condition they may be up against. If that's true, geneticists would be your CIA operatives, your undercover agents providing valuable intelligence on the adversary.

And here at Keesler, the Air Force Medical Genetics Center would be the central intelligence agency for the entire Department of Defense. Doctors from around the world can call on the genetics center to perform laboratory tests that will help them understand what's really going on -- who's the enemy, where the fight is and the most effective course of action.

Chartered in 1979, the genetics lab was established to be a comprehensive genetics center with three missions -- provide clinical services, lab testing and be a source of expertise to the Air Force for consultation.

According to Col. Michael Bashford, 81st Medical Operations Squadron, the clinical portion of the genetics center has shrunk. But with the advent of the entire human genome having been mapped, laboratory testing has seen huge growth over the last decade. Along with that growth, the different kinds of tests and screenings the genetics center can offer have grown as well.

"Clinical services is part of what we do, but it's a small part," said Bashford. "The lab has gotten bigger and bigger and busier and busier."

Being the only lab for the DOD, one might assume a stand-alone facility with multiple floors and row after row of scientists in white lab coats peering through their microscopes conducting groundbreaking research -- futuristic, top secret and maybe even a little scary.

But the genetics center at Keesler doesn't do any research, occupies a small corner of the hospital on one floor and is manned by a small but dedicated staff with many having been there since the '80s and '90s.

The genetics center is actually two labs with two different fields of testing -- cytogenetics and molecular genetics.

Cytogenetics is the art of taking a cell, in most cases a white blood cell, smashing it and looking at the wreckage, specifically the strands of chromosomes that lie strewn about. This work is done by a cytogenetic technologist who is trained to pair the chromosomes and determine if there are any pieces missing, extra, not where they're supposed to be or just don't look right. An analysis of the bands in the chromosomes or by applying a technique of fluorescent tagging, a cytogeneticist can determine the presence or absence of certain genetic diseases and disorders. The presence of Down syndrome, for example, can be determined by looking to see if a patient has an extra chromosome 21.

Molecular genetics looks at the DNA itself, the proteins and amino acids that form the chromosomes, and looks for abnormalities or mutations. They can test for the presence of specific genetic diseases such as cystic fibrosis, Huntington's disease and a variety of prenatal screenings. According to Bashford, the genetics center did about 25,000 genetic tests last year
and the number has been growing at 15-20 percent a year.

"We do as much as we can but not all that needs to be done," said Bashford. "A lot of bases will need to send their testing requests to commercial labs because we simply can't do it all."

Tests can also be run to determine a person's likely response to a drug, how it will be absorbed and metabolized. Oncologists, for example, can use this information to determine which chemotherapies will or will not work and the proper dosages for their patients.

And just recently, the genetics center acquired a new machine, a new operative in the acquisition of genetic intelligence. It is the 007 of cytogenetics -- the DNA microarray. Instead of being able to view only a few hundred pieces of a chromosome, now the cytogeneticist can view over a million.

"It allows us to look at all the DNA at once," said Dr. David Rigdon, medical director of genetics. "It's useful for situations like autism where the patient's chromosomes look completely normal."

But at this level of resolution, everyone's unique. Abnormal becomes normal. It becomes a matter of determining what's threatening and what's not. Does this person have a gun and why? Maybe he just likes to hunt. Or maybe, the gun is a highpowered rifle with a silencer and she's a vegetarian. If so, further investigation might be required.

Sometimes you have to look at the parents -- do they have rifle-toting vegetarians with silencers? If not, then you might very well have your man -- or, getting back to cytogenetics, a tiny spot of the chromosome that's causing the genetic disease or disorder in the patient.

According to Bashford, it'sprecisely this kind of scrutiny and information analysis that those who work at the genetics center love.

"It's new. It's rapidly evolving and there's always new stuff to learn," said Bashford.

"And it's highly specialized. For every 500 people who know how to read your blood, there's only one who knows how to read your DNA."

"It's a very challenging and often frustrating field," said Mary Leigh Shramko, molecular laboratory technical supervisor. "There are so many factors that can influence results. You have to think of ways to create the ideal conditions for testing. But we don't control the conditions of a test. The conditions of a test control us."

"You have to be very careful and meticulous because you're dealing with lots of tests for lots of different people," said Rigdon. "You could accidentally switch someone or a skin cell from the lab technician falls into the test and you have to start over."

Keesler's genetics center is accredited by The College of American Pathologists and consistently ranks high among other labs in the country.

"That's exciting too," said Shramko. "It's exciting to see where we fall in comparison to all the other labs doing this type of work."

Both Rigdon and Schramko admit that the work they do is not personal.

"Most of the tests we perform are not for conditions that can be treated medically," said Shramko. "But it does provide doctors information on what course of action to take going forward."

"The only time it gets personal is if you're seeing the patient," said Rigdon. "But many times the information we provide can be helpful in starting treatments earlier. A child with developmental delays, for example, can begin treatment much sooner than in years past."