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.

http://tinyurl.com/2eg25m

http://www.youtube.com/watch?v=ArkbEv0Q8D8

very much worth listening!

http://www.youtube.com/watch?v=-GRUIiYlziw&NR=1

http://www.encognitive.com

AMERICAN SCIENTISTS ... (more)
Added: December 16, 2007
http://www.encognitive.com
AMERICAN SCIENTISTS SAY THEY INVENTED A CURE FOR HEART DISEASE IN 1991

According to one of the world's most highly regarded scientists , we human beings no longer have to fear premature death or heart attack caused by progressive cardiovascular disease (CVD), undergo heart by-pass surgery or angioplasty, or suffer the chest pain of Angina Pectoris.

The medicinal substances involved are not drugs. The two primary ingredients of the Linus Pauling invention are both required in some daily amount for life itself. The great benefit comes from taking these two completely non-toxic substances in amounts much larger than one normally consumes in the diet.

Linus Pauling did not make this claim lightly, although he made it without fanfare. Pauling waited until after careful experiments at his institute confirmed the Lp(a)/vitamin C connection.

The details of this amazing discovery, its suppression by medical authorities, elements of the United States government and other governments, and the mainstream press, are described on these web pages. You can also view a Linus Pauling lecture on video tape. Pauling explains how you can return your cardiovascular health, safely, without surgery.

Thanks to medical science, it is now possible for cardiovascular disease patients to live a more healthful future; free of pain and symptoms of their former cardiovascular illness. An extraordinary claim. A claim unknown to most doctors, but one those suffering severe disease can verify for themselves in a few weeks.

http://www.oralchelation.net/data/Vit... (less)
Added: December 16, 2007
Category: News & Politics
Tags: Lipitor cholesterol medication cardiovascular natural high blood pressure Crestor Vytorin gemfibrozil probucol

We are accustomed to thinking in terms of a daily figure for vitamins and minerals. Sometimes it is the RDA and sometimes it is a figure much higher. The main street attitude is that a balanced diet is all that is required.

Maybe that is so and maybe it isn't, but there are at least two other questions that could come from the situation.

1) What if we are a rare bird that needs more, say, B12? Say a hundred times more? Or ten times more magnesium? Or both? How would we know?

2) What if we need the same amounts in our systems as everyone else, but we are only able to absorb a tenth as much? Or lack the enzymes to process it once absorbed? How would we know?

The reason for considering this include the fact that stomach acidity alone can affect this and there may be a dozen others. And the symptoms of deficiencies of the Bs alone sure do mimic PD in many ways.

there exists a group of physicians practicing "functional medicine" who order testing to determine if one is deficient in vitamins and minerals, as well as whether pathways for utilizing vitamins and minerals are functional. I found out I do not absorb Folic acid, and must use one of the metabolized products of this vitamin. the testing also rated one's "antioxidant level"--to assist in dietary planning. there is a web site for this group: Institute of Functional Medicine
(practitioners are MD's--there is much emphasis on biochemical aspects)

http://www.functionalmedicine.org/about/whatis.asp
What is Functional Medicine?
Functional medicine is a science-based field of health care that is grounded in the following principles:

Biochemical individuality describes the importance of individual variations in metabolic function that derive from genetic and environmental differences among individuals.

Patient-centered medicine emphasizes "patient care" rather than "disease care," following Sir William Osler’s admonition that "It is more important to know what patient has the disease than to know what disease the patient has."

Dynamic balance of internal and external factors.

Web-like interconnections of physiological factors – an abundance of research now supports the view that the human body functions as an orchestrated network of interconnected systems, rather than individual systems functioning autonomously and without effect on each other. For example, we now know that immunological dysfunctions can promote cardiovascular disease, that dietary imbalances can cause hormonal disturbances, and that environmental exposures can precipitate neurologic syndromes such as Parkinson’s disease.

Health as a positive vitality – not merely the absence of disease.

Promotion of organ reserve as the means to enhance health span.
Functional medicine is anchored by an examination of the core clinical imbalances that underlie various disease conditions. Those imbalances arise as environmental inputs such as diet, nutrients (including air and water), exercise, and trauma are processed by one’s body, mind, and spirit through a unique set of genetic predispositions, attitudes, and beliefs. The fundamental physiological processes include communication, both outside and inside the cell; bioenergetics, or the transformation of food into energy; replication, repair, and maintenance of structural integrity, from the cellular to the whole body level; elimination of waste; protection and defense; and transport and circulation. The core clinical imbalances that arise from malfunctions within this complex system include:

Hormonal and neurotransmitter imbalances

Oxidation-reduction imbalances and mitochondropathy

Detoxification and biotransformational imbalances

Immune imbalances

Inflammatory imbalances

Digestive, absorptive, and microbiological imbalances

Structural imbalances from cellular membrane function to the musculoskeletal system
Imbalances such as these are the precursors to the signs and symptoms by which we detect and label (diagnose) organ system disease. Improving balance – in the patient’s environmental inputs and in the body’s fundamental physiological processes – is the precursor to restoring health and it involves much more than treating the symptoms. Functional medicine is dedicated to improving the management of complex, chronic disease by intervening at multiple levels to address these core clinical imbalances and to restore each patient’s functionality and health. Functional medicine is not a unique and separate body of knowledge. It is grounded in scientific principles and information widely available in medicine today, combining research from various disciplines into highly detailed yet clinically relevant models of disease pathogenesis and effective clinical management.

Functional medicine emphasizes a definable and teachable process of integrating multiple knowledge bases within a pragmatic intellectual matrix that focuses on functionality at many levels, rather than a single treatment for a single diagnosis. Functional medicine uses the patient’s story as a key tool for integrating diagnosis, signs and symptoms, and evidence of clinical imbalances into a comprehensive approach to improve both the patient’s environmental inputs and his or her physiological function. It is a clinician’s discipline, and it directly addresses the need to transform the practice of primary care.

...and goes along ancient chinese medical principles !?