Talking about genetic testing can often raise more questions than it answers. We interviewed a genetic counselor to find the answers to some of the most often asked questions about genetic testing.


Kathleen Valverde is Clinical Coordinator of the Genetic Counseling Training Program at Beaver College in Glenside, Pennsylvania, and currently serves as a regional representative for the National Society of Genetic Counselors. She received her M.S. degree in genetic counseling from Sarah Lawrence college in Bronxville, New York, and is a certified genetic counselor.


Should I get tested?

The choice to undergo genetic testing is a decision that is very personal in nature. You have to weigh the impact that it will have on yourself and your family. You also have to consider your insurance coverage -- there have been cited examples of insurance discrimination, mostly when people are diagnosed with genetic diseases, rather than just testing positive for a genetic mutation. But it is a real concern.

People need to understand the limitations of the testing as well. Genetic tests can tell you if you have a certain gene, or gene mutation, but being predisposed to a disease doesn't mean you will get a disease. It just means you have a certain percent probability of getting a disease, which is affected by many other factors.

If you're thinking about getting a genetic test, you should seek out the assistance of a trained medical professional who can help you weigh the factors and understand what they mean for you.


Are there other factors I need to consider in my decision?

Genetic tests don't just impact an individual, they impact an entire family. You have to think about whether you want to disclose this information to your family and whether you want to have the burden of the knowledge genetic testing can provide. Testing can have an impact on your decisions about family, marriage, childbearing and how you live your life.


Where can I get a genetic test?

Genetic tests can be provided by commercial labs or by clinical services within a hospital. All genetic tests have to be ordered by a physician. These tests are commercially available, but they are best obtained in a face-to-face setting where counseling is available to help you understand the results and what they will mean for you and your family. All test results should be discussed with a genetic professional.


How can a genetic professional help me?

Most genetic diseases are so rare that unless you see a genetic professional, you may be talking to someone who really doesn't have complete information about the disease. Geneticists and genetic counselors don't treat the disease, but help you interpret the results. I would say that genetic counselors are very good at coordinating care, but they don't actually provide medical care. If you learned that you tested positive for a genetic indicator for cancer, for example, you might want to see an oncologist. Or if you learned you had cystic fibrosis, you would see a pulmonologist.

Genetics itself is becoming more and more specialized. For example, I've never seen a patient with Huntington's disease, and I've been a genetic counselor for 15 years. You can find genetic counselors who specialize in a certain disease and if you seek that out you can learn even more about the disease and how it may affect you. It's in the patient's best interest to find someone who knows as much about a particular disease as possible.


How is the actual test conducted?

Most genetic testing involves a blood test, usually a venal-puncture blood test. Usually the lab would need about 10 cc's, or two to three tablespoons of blood.


What do these tests cost?

They're variable, usually upwards of a couple hundred dollars, depending on the test. The cost depends on how many people have the disease. Tests for more common diseases are often available through many laboratories, and the cost is usually lower. But if it's a very rare disease and testing is only available through a research laboratory, the cost would be higher. I would say the range is anywhere from about $100 minimum to a few thousand dollars for a few of the rarer tests.


Will my insurance pay for genetic testing?

That depends. You would have to call your insurance company to find out for sure. Some insurance plans will cover testing, but then the insurer has access to your results and you have to weigh whether you want your insurance company to have that information. In some cases, I have called on behalf of a patient to find out whether the company will cover a particular test. That way there is more protection of the patient's identity in case the patient doesn't want the insurance company to know.

I think consumer demand can really encourage insurance companies to make a change. If your insurance company does not cover a particular test, if you write to them and ask them to cover it, they may decide that it's worthwhile. But if people don't take an active role, there is a danger that insurance companies will determine our access to health care choices.


How many genetic tests are available?

There are hundreds of tests available. Patients need to understand that there are many things that are technically possible, but there might not be access to them. For example, researchers could find a gene for something and know all about how to test for it, but sometimes no one offers a test for it. It might be because the disease is very rare and not enough people have it, or because of cost limitations. Or sometimes only one lab in the entire country can process that particular test. Genetic counselors can sometimes spend days trying to track down a place that will do a particular test.

Also, there are limitations to what these tests can tell you. Genetic tests look for the most common mutations associated with a disease. In some cases, you may have a mutation for a certain disease that is very rare, and that result would not be picked up by the genetic test.


How soon will I know the results?

If the test is analyzed by a commercial laboratory, you could have the results in about two to four weeks. If the test is for a very rare disease and it goes to a research lab, it might be a couple of months before the results are available. We're used to the kind of blood test where you go and have your blood drawn, they put it in some kind of machine and the result comes out tomorrow. Genetic testing is not like that. You should ask when you'll have the results when you go for the test.


What do the results mean?

Anybody who has a positive test result should discuss the results with a genetic professional to understand the meaning of the results and how they affect you. You should not just be told that your test results are positive without receiving other information to help understand what that will mean for you and your family and how you should go about facing your risk for disease.

I also feel that with a positive result, you're now morally obligated to share that information with your family, because they are at risk too. Genetic professionals legally are not allowed to contact family members or tell others that they might be at risk. For example, I may be treating two patients who are related. If I learn that one has tested positive for a certain genetic mutation, I can't give that information to the other person, even though I know he or she is now at risk for having the same mutation.


So the results are confidential?

Yes, in terms of a genetic professional. But if the patient tells someone -- like a doctor -- the information is not necessarily confidential. If your doctor or Ob/gyn learns the results of a genetic test and enters it into your medical chart, that information can be obtained by outside parties. And it's probably very beneficial for your doctor to know that information, but you have to weigh whether you want your insurance company, for example, to have access to that information. Patients themselves should be very careful about who they tell the results of their tests.


What can I do once I know the results?

Learn as much as you can about the disease and what course of action you would want to take if the disease affects you. I also think it's very important to discuss the results with a genetic professional. This type of testing really demands the assistance of a professional who can help you understand the results and what they will mean for you.


What can I gain from genetic testing?

Knowledge, but the impact of that knowledge can be very tricky.
Of course the greatest benefit of being tested and being negative is that you do not have the gene in question which can lead to the disease state. Conversely, if you are found to have a disease-causing gene then you can obtain treatment immediately. The benefits of knowing will also aid in long term planning -- career choice, decision to marry, family planning, insurance coverage and other decisions. Your test results can also be important for other family members who may be at risk.

From a more philosophical point, genetic testing gives you the answer, yes I have the "gene," or no I do not. For some the hope or uncertainty of not knowing keeps them going, but for others it is paralyzing.


Is there a downside to genetic testing?
Yes. Sometimes a little knowledge is a dangerous thing. If you have BRCA1, you're at greater risk for cancer. But I can't tell you what kind of cancer you'll get or when you might get it. Genetic diseases are variable and onset doesn't occur at the same time or in the same way for every person. It's personal in nature and there are lots of variables that can have an impact on disease onset. In the case of prenatal testing, I think the knowledge puts a burden on parents to make decisions about quality of life. Also, if you're not psychologically willing to hear the information, it can hit hard.


How can I find out more?

Genetic services are usually confined to major medical centers, but many outlying hospitals have coordinated services through them. You can check with your local doctor or hospital to connect with a genetic professional.



Kathleen Valverde was a practicing genetic counselor from 1986-1995. She worked from 1986-1988 at the Institute for Basic Research in Staten Island, New York, providing outreach genetic counseling services to residents of this New York City borough. From 1988-1995, Ms. Valverde was the senior genetic counselor at St. Vincent's Hospital and Medical Center of New York. There she worked for the pediatrics department in the Cystic Fibrosis Center. She is currently the National Society of Genetic Counselors' Regional representative for Region II, which includes New York, New Jersey, Pennsylvania, Maryland, Delaware, Virginia, West Virginia and Washington, D.C.

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