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Susan, a 44-year-old Fort Collins resident, hasn’t exactly been blessed with the best of health. Her liver frequently pains her. She has thyroid issues and insulin resistance troubles. There are times when she feels downright rotten.
As if feeling awful wasn’t enough, Susan became frustrated when she couldn’t seem to get enough answers. There were times she felt like doctors just wouldn’t listen and the medications weren’t doing the trick. At her wits end, she stumbled into Vitamin Cottage praying they might know someone or something that could help. That’s how she was referred to Dr. Roger Billica, at Tri-Life Health in Fort Collins.
“He’s the first doctor to listen to me and wants to get to the root of the problem instead of just slipping on a Band-Aid,” she said.
Billica would be the person to lead her to a new kind of space-aged science that would involve customizing her treatment by looking at the specific genes that make her who she is at her very core. It’s a rare field to specialize in and Billica is one of only a handful of doctors in the state utilizing such high-tech diagnoses.
With the growing popularity of generic drugs and big box stores featuring vast pharmacies, it may seem that the medical world is becoming less personalized and more universalized. In some ways, that may be true, but several experts in the medical field say future diagnoses are likely to become as individualized as they can possibly be as genetic research continues to transition into the clinical world.
As Billica puts it, “a person’s health is determined by their genes and the environment they are put in.” Environment could mean the food that a person eats, how much sleep they get and the kind of stress they are under, as well as numerous other factors.
“There’s lots of kinds of environmental issues underlying chemistry,” Billica said. “Here’s where the genetic thing comes in. If you look at any disease, it is defined by signs and symptoms and usually there is some kind of trigger. ... But before that trigger there is usually some pre-existing conditions, maybe poor nutrition, poor digestion or sleep deprivation that sets them up.
“Before that, we have genetic predispositions.”
Knowing this, Billica recommended Susan have a DNA test done. He said that genes determine risk for conditions, but the environment determines how the genes are expressed. Though he cannot change a person’s genes, Billica said there are ways to impact how a gene is expressed. The DNA test would be used as a starting point. Because the tests are not currently approved by the U.S. Food and Drug Administration and are not regulated yet, they are not usually covered by medical insurance. And, because they are still somewhat new, there are still a lot of unanswered questions surrounding them. For this reason, Susan asked that her last name not be used in this article.
She said there is a fear that her test results could be used against her to deny medical coverage.
***
The DNA test involved giving a blood sample and having it sent to a specific lab. Through the testing, two gene variations, known as polymorphisms, were identified that could explain why she was having problems with her liver. The body’s largest internal organ has several functions, one of which is detoxification. Susan’s DNA test showed her liver wasn’t properly regulating enzymes that are responsible for detoxifying the bad chemicals from her body. Before the DNA test, she only knew her liver hurt. The test, though, gave her a little insight as to why.
“We were able to get to the bottom as to why things are happening. Now what do we do about it?” Billica said. “The challenge is everybody is different. That’s what makes this so effective. We are able to individualize the diagnosis and the therapy. Instead of looking at population statistics, we can treat that individual as an individual. It takes more effort. It’s not something you accomplish in a five minute doctor’s visit.”
The other thing Susan found interesting was that she also has the gene variation that makes her a higher risk for developing head and neck cancer—the condition that her mother died from. Her test cost about $460 and Billica said they range from $150 to $700.
“It was a small price to pay for learning something so valuable,” Susan said.
Billica said similar approaches that use various DNA tests can be applied to other conditions such as hormone imbalances, cancers, immune disorders, osteoporosis, detoxification, autism, Alzheimer’s, cardiovascular conditions, hypertension and nerve degeneration. Though he sees this as being one of the more exciting developments in medicine and says it could change the way medicine is practiced in the future, he says it is simply another existing option right now.
“This is not meant to replace what passes for standard practice in modern medicine, but it does open additional options for people struggling with some of these issues,” Billica said.
However, this type of medicine is already catching on in traditional practice. National Jewish Medical and Research Center in Denver recently opened the Center for Genetics and Therapeutics that will analyze DNA.
Preveen Ramamoorthy, director of molecular diagnostics at National Jewish, said the lab was established with the idea of making personalized or individualized medicine a reality. Because not everyone responds to prescription drugs the same way, the idea is to apply DNA research in a way that will determine which drugs to use and in what specific doses. It’s what he calls pharmacal genomics.
“Medicine is revolutionary,” Ramamoorthy said. “It will change in the future for the better.”
In essence, there is a chance that what is called “functional medicine”—personalized medicine that deals with primary prevention and underlying causes instead of symptoms—may one day become much more traditional.
Billica’s interest in functional medicine stems from his past experiences as NASA’s Chief of Medical Operations.
After getting his degree and completing the standard three-year residency, Billica worked as a doctor at Grand Canyon National Park. He joined the Air Force where he became certified in aerospace medicine and worked as a flight surgeon. He joined NASA in 1989 and took over the position of Chief of Medical Operations in 1991.
“Already there were challenges to find ways to help pilots be healthy without using medications,” Billica said. “Several things happened at NASA. We had to define what’s healthy ... The traditional definition is the absence of disease, but that’s not a good definition. It doesn’t mean everything is working properly. We looked at things that fundamentally define health.”
He helped prepare astronauts for space, making sure they stayed healthy and also worked to address the negative health consequences of space for after their return. He said to do this, he had to get back to basic cell biology and look at how the human body works.
Stepping into functional medicine was a natural progression.
***
When it comes to genetic testing, much of the research that is now being applied came out of the U.S. Human Genome Project, which formally began in 1990. The main goal of the 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health was to identify all the 25,000 genes in human DNA. It also determined the sequences of the three billion chemical base pairs that make up human DNA.
Basically, the Human Genome Project took the 23 chromosomes and broke them down into 25,000 SNPs, or single nucleotide polymorphisms, which are DNA sequence variations.
“What we now know is that would be your genetic blueprint with 23 chapters,” Billica said. “Before we could say a person might be missing a chapter or move a paragraph around. Now though, let’s say we look at chapter eight, the seventh paragraph, sixth sentence. There’s a phrase, and that is an SNP.”
Caroline Lieber, Director of Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College in New York, said that while the Human Genome Project was completed and told researchers where the genes are, research is continuing to determine how specific genes interact with each other. The genetics program at Sarah Lawrence College is the oldest and largest of its kind.
“The technology gets better and better,” Lieber said. “We can test for more things at a cheaper price.”
However, she acknowledges that with this technology comes several other challenges. Already, several companies are marketing genetic mapping directly to the public. For $1,000 a company called 23andMe produces detailed genetic profiles by collecting an individual’s saliva. The company, which launched last November, allows customers to explore their genes that contribute to personal characteristics, trace the inheritance of genes and see if they are at a higher risk for specific conditions.
Lieber said she refers to these models as “recreational genetics” because they look at how an individual compares to a larger population based on markers. This differs from the types of tests Billica uses because he uses ones that are more disease-specific.
“In my mind, the education piece is critical,” Lieber said.
She said that it is important for people who decide to go through with any DNA test work with a genetics professional who can walk them through it and explain what the results mean.
Susan said that even though she would recommend DNA tests to friends, she would only do it if they were going to get the results interpreted by someone who knows what they are doing.
“When I looked at the test, I think I wouldn’t have known what to do with the information on my own,” she said. “Dr. Billica is very good at explaining it at a monkey level.”
One of the other issues is that because the tests are not regulated, it is not clear how insurance companies fit into the puzzle. There is concern that if insurance companies had access to the test results, they may not cover certain things if the person was genetically at a higher risk for, say, cancer. There is the potential for conditions to be characterized as “pre-existing.” While family history is already used by insurance companies to measure risks of covering certain populations, DNA tests would put the information in black and white.
The other side of that consideration is that just because a person has the genes that put them at higher risk for a specific condition doesn’t mean they will get it. Similarly, just because a person isn’t at a higher risk for a certain disease or condition, doesn’t mean they won’t develop it. The tests also don’t determine when high-risk conditions could appear or how severe it will be.
Lieber said that is a big concern because people might stop some of the preventative measures because they don’t possess a certain gene. If a woman does not possess the gene that place her a higher risk for breast cancer, she may stop getting mammograms even though she could still develop breast cancer.
The opposite side is also a possibility: Some people might panic and overreact if they are high risk for certain things. For Susan though, the benefits have far outweighed any possible drawbacks. That’s because she has been able to keep everything in perspective.
“I’m not one to panic,” Susan said. “I’m thankful for the information and realize I might not ever develop some of these things.”
While DNA tests like the one Susan had done may not be mainstream yet, they are definitely gaining more attention. As more research is conducted, many expect these types of tests to be used more often and eventually become a growing part of modern medicine.
“It’s something that is scientific that can show you something concrete,” Susan said.
As if feeling awful wasn’t enough, Susan became frustrated when she couldn’t seem to get enough answers. There were times she felt like doctors just wouldn’t listen and the medications weren’t doing the trick. At her wits end, she stumbled into Vitamin Cottage praying they might know someone or something that could help. That’s how she was referred to Dr. Roger Billica, at Tri-Life Health in Fort Collins.
“He’s the first doctor to listen to me and wants to get to the root of the problem instead of just slipping on a Band-Aid,” she said.
Billica would be the person to lead her to a new kind of space-aged science that would involve customizing her treatment by looking at the specific genes that make her who she is at her very core. It’s a rare field to specialize in and Billica is one of only a handful of doctors in the state utilizing such high-tech diagnoses.
With the growing popularity of generic drugs and big box stores featuring vast pharmacies, it may seem that the medical world is becoming less personalized and more universalized. In some ways, that may be true, but several experts in the medical field say future diagnoses are likely to become as individualized as they can possibly be as genetic research continues to transition into the clinical world.
As Billica puts it, “a person’s health is determined by their genes and the environment they are put in.” Environment could mean the food that a person eats, how much sleep they get and the kind of stress they are under, as well as numerous other factors.
“There’s lots of kinds of environmental issues underlying chemistry,” Billica said. “Here’s where the genetic thing comes in. If you look at any disease, it is defined by signs and symptoms and usually there is some kind of trigger. ... But before that trigger there is usually some pre-existing conditions, maybe poor nutrition, poor digestion or sleep deprivation that sets them up.
“Before that, we have genetic predispositions.”
Knowing this, Billica recommended Susan have a DNA test done. He said that genes determine risk for conditions, but the environment determines how the genes are expressed. Though he cannot change a person’s genes, Billica said there are ways to impact how a gene is expressed. The DNA test would be used as a starting point. Because the tests are not currently approved by the U.S. Food and Drug Administration and are not regulated yet, they are not usually covered by medical insurance. And, because they are still somewhat new, there are still a lot of unanswered questions surrounding them. For this reason, Susan asked that her last name not be used in this article.
She said there is a fear that her test results could be used against her to deny medical coverage.
***
The DNA test involved giving a blood sample and having it sent to a specific lab. Through the testing, two gene variations, known as polymorphisms, were identified that could explain why she was having problems with her liver. The body’s largest internal organ has several functions, one of which is detoxification. Susan’s DNA test showed her liver wasn’t properly regulating enzymes that are responsible for detoxifying the bad chemicals from her body. Before the DNA test, she only knew her liver hurt. The test, though, gave her a little insight as to why.
“We were able to get to the bottom as to why things are happening. Now what do we do about it?” Billica said. “The challenge is everybody is different. That’s what makes this so effective. We are able to individualize the diagnosis and the therapy. Instead of looking at population statistics, we can treat that individual as an individual. It takes more effort. It’s not something you accomplish in a five minute doctor’s visit.”
The other thing Susan found interesting was that she also has the gene variation that makes her a higher risk for developing head and neck cancer—the condition that her mother died from. Her test cost about $460 and Billica said they range from $150 to $700.
“It was a small price to pay for learning something so valuable,” Susan said.
Billica said similar approaches that use various DNA tests can be applied to other conditions such as hormone imbalances, cancers, immune disorders, osteoporosis, detoxification, autism, Alzheimer’s, cardiovascular conditions, hypertension and nerve degeneration. Though he sees this as being one of the more exciting developments in medicine and says it could change the way medicine is practiced in the future, he says it is simply another existing option right now.
“This is not meant to replace what passes for standard practice in modern medicine, but it does open additional options for people struggling with some of these issues,” Billica said.
However, this type of medicine is already catching on in traditional practice. National Jewish Medical and Research Center in Denver recently opened the Center for Genetics and Therapeutics that will analyze DNA.
Preveen Ramamoorthy, director of molecular diagnostics at National Jewish, said the lab was established with the idea of making personalized or individualized medicine a reality. Because not everyone responds to prescription drugs the same way, the idea is to apply DNA research in a way that will determine which drugs to use and in what specific doses. It’s what he calls pharmacal genomics.
“Medicine is revolutionary,” Ramamoorthy said. “It will change in the future for the better.”
In essence, there is a chance that what is called “functional medicine”—personalized medicine that deals with primary prevention and underlying causes instead of symptoms—may one day become much more traditional.
Billica’s interest in functional medicine stems from his past experiences as NASA’s Chief of Medical Operations.
After getting his degree and completing the standard three-year residency, Billica worked as a doctor at Grand Canyon National Park. He joined the Air Force where he became certified in aerospace medicine and worked as a flight surgeon. He joined NASA in 1989 and took over the position of Chief of Medical Operations in 1991.
“Already there were challenges to find ways to help pilots be healthy without using medications,” Billica said. “Several things happened at NASA. We had to define what’s healthy ... The traditional definition is the absence of disease, but that’s not a good definition. It doesn’t mean everything is working properly. We looked at things that fundamentally define health.”
He helped prepare astronauts for space, making sure they stayed healthy and also worked to address the negative health consequences of space for after their return. He said to do this, he had to get back to basic cell biology and look at how the human body works.
Stepping into functional medicine was a natural progression.
***
When it comes to genetic testing, much of the research that is now being applied came out of the U.S. Human Genome Project, which formally began in 1990. The main goal of the 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health was to identify all the 25,000 genes in human DNA. It also determined the sequences of the three billion chemical base pairs that make up human DNA.
Basically, the Human Genome Project took the 23 chromosomes and broke them down into 25,000 SNPs, or single nucleotide polymorphisms, which are DNA sequence variations.
“What we now know is that would be your genetic blueprint with 23 chapters,” Billica said. “Before we could say a person might be missing a chapter or move a paragraph around. Now though, let’s say we look at chapter eight, the seventh paragraph, sixth sentence. There’s a phrase, and that is an SNP.”
Caroline Lieber, Director of Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College in New York, said that while the Human Genome Project was completed and told researchers where the genes are, research is continuing to determine how specific genes interact with each other. The genetics program at Sarah Lawrence College is the oldest and largest of its kind.
“The technology gets better and better,” Lieber said. “We can test for more things at a cheaper price.”
However, she acknowledges that with this technology comes several other challenges. Already, several companies are marketing genetic mapping directly to the public. For $1,000 a company called 23andMe produces detailed genetic profiles by collecting an individual’s saliva. The company, which launched last November, allows customers to explore their genes that contribute to personal characteristics, trace the inheritance of genes and see if they are at a higher risk for specific conditions.
Lieber said she refers to these models as “recreational genetics” because they look at how an individual compares to a larger population based on markers. This differs from the types of tests Billica uses because he uses ones that are more disease-specific.
“In my mind, the education piece is critical,” Lieber said.
She said that it is important for people who decide to go through with any DNA test work with a genetics professional who can walk them through it and explain what the results mean.
Susan said that even though she would recommend DNA tests to friends, she would only do it if they were going to get the results interpreted by someone who knows what they are doing.
“When I looked at the test, I think I wouldn’t have known what to do with the information on my own,” she said. “Dr. Billica is very good at explaining it at a monkey level.”
One of the other issues is that because the tests are not regulated, it is not clear how insurance companies fit into the puzzle. There is concern that if insurance companies had access to the test results, they may not cover certain things if the person was genetically at a higher risk for, say, cancer. There is the potential for conditions to be characterized as “pre-existing.” While family history is already used by insurance companies to measure risks of covering certain populations, DNA tests would put the information in black and white.
The other side of that consideration is that just because a person has the genes that put them at higher risk for a specific condition doesn’t mean they will get it. Similarly, just because a person isn’t at a higher risk for a certain disease or condition, doesn’t mean they won’t develop it. The tests also don’t determine when high-risk conditions could appear or how severe it will be.
Lieber said that is a big concern because people might stop some of the preventative measures because they don’t possess a certain gene. If a woman does not possess the gene that place her a higher risk for breast cancer, she may stop getting mammograms even though she could still develop breast cancer.
The opposite side is also a possibility: Some people might panic and overreact if they are high risk for certain things. For Susan though, the benefits have far outweighed any possible drawbacks. That’s because she has been able to keep everything in perspective.
“I’m not one to panic,” Susan said. “I’m thankful for the information and realize I might not ever develop some of these things.”
While DNA tests like the one Susan had done may not be mainstream yet, they are definitely gaining more attention. As more research is conducted, many expect these types of tests to be used more often and eventually become a growing part of modern medicine.
“It’s something that is scientific that can show you something concrete,” Susan said.
Speaking Science
DNA: The molecule that encodes genetic information. DNA (deoxyribonucleic acid) from all organisms is made up of the same chemical and physical components. The DNA sequence is the particular side-by-side arrangement of bases along the DNA strand. This order spells out the exact instructions required to create a particular organism with its own unique traits.
Chromosome: A threadlike strand of DNA and associated proteins in the nucleus of animal and plant cells that carries hereditary information. Humans have 23 chromosomes. Genome: An organism’s complete set of DNA. The human genome is estimated to contain 20,000-25,000 genes. SNPs: Single nucleotide polymorphism. DNA sequence variations that occur when a single nucleotide (A, T, C, or G) in the genome sequence is altered. Polymorphism: Difference in DNA sequence among individuals that may underlie differences in health. Source: The Human Genome Project |
