From Deseret News archives:
Merging medical data often impractical
Hotline experts say genetic studies must be meticulous
It's an interesting concept, says John F. Carlquist, co-director of LDS Hospital's Cardiovascular Research Program, but it's not really practical. There are gaps in the data. And bad information. Some of the records are incomplete. Different people store data in their own ways and some of them are better at it than others.
Data collection methods can be inconsistent. And it would be impossible to verify too much of it, so conclusions could not be validated or replicated. Often, clinicians have only brief medical histories to consider, as well.
Scientific knowledge that can be applied to real life from the dosage someone needs of a particular drug to an understanding of gene mutations requires carefully thought-out study using consistent steps to gather the information that's needed. It requires controls and quality assessment, and a lot more.
One woman called because her husband had a heart attack when he was in his 40s. The man's father was only a decade older when he died from a heart attack. She hoped to find a study that would let their children be tested for an inherited heart condition.
Unfortunately, say both Horne and Carlquist, most research being done right now in the field will not provide direct benefit to patients, although it's quite possible that the children she asked about could one day benefit from genetic research her husband could now participate in.
LDS Hospital researchers have been taking blood samples and genealogical information from patients who come through the heart cath lab. They also have genealogical records to one day link family members and their heart disease. One of the plans for this Intermountain Genealogical Registry is to check the blood samples for genetic variants that could help the scientists unravel the mysteries of heart disease and genetics.
In the short term, people who know that they have a family history of heart disease should be paying close attention to diet, not smoking and getting plenty of exercise all shown to ameliorate at least some of the risk of a nasty cardiac event, says Carlquist. People who have diabetes can help themselves and their hearts by keeping close control of the disease.
They say that Utah is an ideal place for genetic research because of a willing-to-help-out population that is happy to give a blood sample. That tends to keeping good genealogical records.
Anyone interested in participating in one of the ongoing heart genetic studies at LDS Hospital can send an e-mail to cardioresearch@intermountianmail.org or call 801-408-3260.
The hotline tackles a different health topic on the second Saturday of each month.
E-mail: lois@desnews.com
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