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Health Matters: Genetic testing offers positives to future family health matters

Q. I've heard a lot about genetic testing. How useful is it, and should I have my genes checked? A. First, let's go over some basics. Every human has around 20,000 genes that control the growth and function of the cells in the body. Genes are mad...

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Q. I've heard a lot about genetic testing. How useful is it, and should I have my genes checked?

A. First, let's go over some basics. Every human has around 20,000 genes that control the growth and function of the cells in the body. Genes are made up of DNA, the hereditary material that is located in the nucleus of the cells in the body, and abnormalities in one or more genes may be associated with many different diseases, from cancer to heart disease. It has been hoped that by determining each person's unique genetic makeup it might be possible to assess the risk of developing many diseases, predict responses to a variety of medicines, and guide management of various conditions. While this promise still endures, the reality is that things have turned out to be much more complicated than previously thought. Most common diseases are the result not of a single permanent genetic alteration (called a mutation) but rather of many intersecting factors-the influence of not one but multiple genes, the effect of the environment, nongenetic cellular influences, etc. Because of this, the utility to date of genetic testing in general has been modest. So for now, I would not recommend that the average person have their genes checked-unless they are part of a research project that is trying to better understand the use of genetic information.

On the other hand, there are some specific situations where gene testing is extremely useful. Propensity to one form of cancer that can affect the breast and ovaries in young people can be identified by detecting one of several genetic mutations. And various types of heart problems-especially in children-may have a genetic basis. In these cases, the use of genetic information can be essential in deciding how much screening needs to be done in close relatives. Let's say a dad has an inherited heart condition that can affect half of his children. They all would need to be screened for many years to see if the condition is developing in them. But if we know the gene in dad that caused the condition and 3 of his 4 children don't have that gene, they will not develop the condition and don't have to be screened-ever. So here's an example where genetic testing is quite useful-and reassuring.

Q. I was with my elderly mother recently when she passed out unexpectedly. At the hospital, they found that the problem was a blood clot in the lungs. Is that a common cause of blacking out?

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A. A recent study indicates that the answer is yes. In a study from Italy, about 1 out of 6 patients with an average age of 76 years who were admitted to the hospital because of a passing out spell (we call it syncope) had a blood clot in the lungs identified as the cause. And in those patients without a more obvious cause of syncope (like a demonstrated heart rhythm problem or low blood pressure), the frequency was 1 in 4. So good for your hospital for making this diagnosis-and it's a reminder for all hospitals, clinics, and providers to consider blood clots in the lungs as a not infrequent cause of passing out, especially in the elderly.

Wynne is vice president for health affairs at UND, dean of the School of Medicine and Health Sciences, and a professor of medicine. He is a cardiologist by training.

Submit a question to Health Matters at healthmatters@med.und.edu or Health Matters, 501 North Columbia Road, Stop 9037, Grand Forks, ND 58202-9037. Remember, no personal details, please.

The content of this column is for informational purposes only and does not substitute for professional medical advice or care. The information provided herein should not be used for diagnosing or treating a health problem or disease. If you have or suspect you may have a health problem, you should consult your health care provider. Never disregard professional medical advice or delay in seeking it because of something you have read in this column.

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