Doctors are already using your genetic code to predict diseases like diabetes and heart disease. Soon, possibly within the next 10 years, they'll be able to use DNA to forestall diseases not previously tied to your genes — like tumors of the pituitary gland.
And the depth of Utah's renowned medical family history database will not only help perpetuate such new discoveries, it was a key factor in developing a new government electronic medical records program to be announced later this year, allowing people to give medical providers key information that can impact their treatment.
The march toward "personalized medicine" was discussed Thursday at LDS Hospital by Dr. Gregory Downing, special assistant to the secretary of Health and Human Services. He said the state's contribution to genetic research through the Utah Population Database (UPDB) has been pivotal to a future of more personalized health care.
For instance, researchers at the University of Utah announced Thursday they have found strong evidence that some people may be genetically susceptible to tumors of the pituitary gland, which occur in nearly 20 percent of the population. They used the UPDB — which includes more than 2.5 million people with at least three generations of data linking back to the Mormon pioneers — to find the correlation.
Dr. William T. Couldwell, chairman of the department of neurosurgery at the U., was the lead researcher. He and his colleagues analyzed genetic relationships among 741 people diagnosed with benign or malignant pituitary tumors and found the number of those with family ties was "significantly higher than expected."
They also found that "first- and third-degree relatives of those with the tumors were at significantly higher risk of developing the disease than the general population," Couldwell said.
For family members of those with such a tumor, the knowledge that they may be more susceptible to the same disease can impact the kind of medical decisions they make. Learning the symptoms of the disease and doing early screening procedures may help them avoid developing a tumor, or catching it early if it does occur.
Because the scope of information in the UPD is unique and has helped drive development of a broad electronic medical records system in Utah, Downing brought together all the federal agencies that provide health care a year ago, then relied on a contracted consultant from Intermountain Healthcare's Clinical Genetics Institute at LDS Hospital in rebuilding the U.S. Surgeon General's computerized family history tool.
"My Family Health Portrait" tool is a Web-enabled program that runs on any computer connected to the Web and running an up-to-date Internet browser.
According to the Web site, "it helps users organize family history information and then print it out for presentation to their family doctor. In addition, the tool helps users save their family history information to their own computer and even share family history information with other family members."
The information will help medical providers understand better how to tailor their care to individual patients.
To access the My Family Health Portrait Web tool, or for more information, go to https://familyhistory.hhs.gov/.
Dr. Marc Williams, director of the IHC's genetics institute, said his staff had already been working on the same kind of tool after a financial award from Microsoft two years ago. When Downing learned what IHC was doing to build its family history tool, he set out to update the Surgeon General's family history tool. The government did so based on what IHC had learned, using standards that are being developed throughout the American health care community.
As happy as Williams is with the move toward personalized medicine, he said genetics "is only one piece of what we need to know … about people if we're going to care for them in the best way." Little is known about the impact of environment on people's health, he said.
"Genetics loads the gun, but environment pulls the trigger. … The best care results when we synthesize everything we know and include patient preferences in the process."
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