Genetic testing can detect certain diseases before they strike

About six years ago Friedman, then in her early 30s, tested positive for a genetic mutation that signals a higher-than-normal probability of developing breast and or ovarian cancer.

''It was kind of an undiagnosis, youre diagnosed with this risk,'' recalls the Coral Springs resident.

Having lost a breast to cancer the previous year, Friedman took no chances. She had her other breast and her ovaries surgically removed as a precaution.

Friedmans actions might seem radical, but in the future many of us may base our critical health decisions on information gleaned from analysis of genetic material found in our blood, a new approach known as ''gene-based medicine,'' experts say.

Gene-based medicine will analyze molecules in our blood to help detect disease before we feel the first pangs of a symptom.

''If you can predict whats going to happen, you can maintain optimum health,'' says Dr. Louis Elsas, head of the University of Miamis Dr. John T. Macdonald Foundation Center for Medical Genetics. ``This will change the entire attitude of health care, from taking care of the sick after youve got damage to preventing that damage from occurring.''

Already gene-based medicine has made inroads among newborns in the state. All children born in Florida undergo testing for five genetic diseases -- sickle cell, phenylketonuria (PKU), congenital hypothyroidism, congenital adrenal hyperplasia and galactosemia.

Identifying children who carry these genes early in life allows parents to seek help to prevent the full-fledged onslaught of these diseases. The state estimates more than 3,000 children have been helped since 1980, when the tests went into effect.

For instance, children who test positive for PKU cannot metabolize the amino acid phenylalanine. Consuming a low-protein diet will guard against a buildup of this acid and protect them against the mental retardation that afflicted untested children in previous generations. Similarly, eliminating dairy products for children with galactosemia protects them from accumulating galactose, which can be toxic in large amounts.

Newborns are not the only ones who benefit from gene-based medicine, UM's Elsas says. One day soon, the blood of adults may also serve as tarot cards of health risks.

Already certain identifiable markers signal that a person has an elevated risk of developing high cholesterol, which predisposes one to heart disease. People who carry those genes -- most likely to be discovered after a family member suffers a heart attack -- can take statins, the cholesterol-lowering drugs, to keep their cholesterol out of the danger zone. Research being conducted now will likely uncover a host of other genes affecting one's risk of disease, experts say, particularly other cancers, diabetes and hypertension.

For years, doctors have relied on racial classifications as a shorthand for genetic predispositions. The knowledge that genes for Tay-Sachs are more prevalent among those who descended from Jews in Eastern Europe, for instance, led to increased prenatal testing in would-be parents of that ethnic group, preventing the birth of most children with this devastating disease. Still, this would not help prevent the much rarer case of a child with Tay-Sachs outside this population. So, many scientists are now shying away from relying too heavily on race or ethnicity as a factor.

''Race is such a blunt instrument its going to help a little, but it can also lead to some mistakes,'' says Lynn Jorde, professor of human genetics at the University of Utah. ``What wed like to develop would be much better, finer tools. Thats the promise of such personalized medicine.''

Elsas sees personalized or gene-based medicine becoming standard in the coming years. Instead of just focusing on the patient in the hospital who has had a heart attack, doctors will reach out to that patients relatives to persuade them to be checked for their risk. When meeting a new patient, a doctor will delve into family history to identify potential risk factors and lifestyle modifications that might head off problems.

Heading off diseases, however, may not prove as simple as just changing patient behavior, some say. Most diseases occur because of a confluence of factors, some of which may not be as amenable to manipulation as others, says Dr. Richard Cooper, chair of preventive medicine and epidemiology at Loyola University.

Take hypertension, he argues. While many believe that racial differences in incidence of this disease stem from genetic predisposition, Cooper sees more complicated explanations, having to do with lifestyle choices, access to healthcare, and a host of other variables. Focusing on genetics alone obscures these to the detriment of all.

''This deflects peoples attention from the fact that there is a real cause,'' Cooper says. ``Its the ultimate in reductionism, thinking its the molecule thats wrong and if we could fix that molecule, wed all go home happy.''

Nonetheless, some patients may have benefited already from genetic testing. Within the past decade, testing was developed to spot genetic mutations that can increase a woman's risk of breast and ovarian cancer.

The presence of one of these mutations can translate into a lifetime risk of breast cancer as high as 85 percent and a risk as high as 60 percent for ovarian cancer. Patients who test positive for these mutations can factor these statistics into tough decisions on elective mastectomies or hysterectomies.

Not that these decisions are easy ones. Shortly after her diagnosis, Friedman realized that little information existed to help others in her shoes. To reach out to other ''previvors'' of breast and ovarian cancer, she started the group FORCE (Facing Our Risk of Cancer Empowered).

Five years later, the groups website, www.facingour risk.com, has about 850 registered users, and Friedman has given up her job as a veterinarian to concentrate on the group.

''Theres a need for support here. These women are being asked to make decisions that will change their lives and their options arent great,'' says Friedman, who decided against having a second child when she opted to have her ovaries removed five years ago. .

Research suggests that many women like Friedman act upon the information they receive. A study of 250 women who carried a breast cancer mutation found that once these patients were made aware of their risk, they were more likely to increase surveillance for the disease and to opt for prophylactic surgery, says Talia Donenberg, a genetic counselor at the University of Miami School of Medicine/Jackson Health Systems.

Meanwhile, researchers continue to search for genetic markers that are more common but less potent than the breast cancer mutations, found in about 5 to 10 percent of the population. Such ''low-penetrance'' markers may only increase ones risk of a certain cancer by 25 percent, significantly less than many of the currently known mutations.

Discovering a low-penetrance marker will also lead to a whole new set of research questions: What, if anything, can those who carry this marker do to lower their risk of disease? Will there be drugs they can take? If so, will the benefit of taking those drugs outweigh any potential risks of doing so?

And for those who don't have the gene, perhaps the experience of going through the testing will highlight the importance of pursuing a healthy lifestyle, experts say.

''Even if we cant find a family trait, looking at the family history and increasing awareness that these traits may be inherited definitely heightens the individuals awareness,'' Donenberg says.

Our two-year old was just genetically tested for celiac disease. We received good news and bad. She does carry the genetic markers that may prove she could develop this disease. And yet an endoscopy proved she doesn't have it, today. So, in the future, should she start to get ill, we will know to change her diet and she will then be perfectly normal. Thankfully celiac disease is very easy to treat. We are just so grateful that we had all of the testing done.

We just went through the same thing with my son. Positive blood test, negative biopsy. Although the biopsy was negative, he is having problems (diarrhea/const, headaches, moody, slow growth, malnutrition [vit B], etc.) so the dr recommended we take him off the glut. anyway. My daughter tested neg for the blood test, but she feels better on the glut. free diet, so the whole family decided just to throw in the towel and go for it. It's been a month now and we're loving it. All of us feel better.

I am trying to wean my daughter off of cows milk, and will start lactose-free milk, possibly soy. If we start with the milk, and no significant change occurs, it will be easy then to remove the wheat.

My daughter has diarrhea, failure to thrive, and has been losing weight. But, right now, she isn't in any extreme discomfort. She is healthy, actually, digestive difficulties aside.

But, knowing that her paternal grandmother has celiac disease, lead us to be concerned.

Also, if it turns out to be a gluten sensitivity, instead of celiac disease, the cause for alarm is decreased. Celiac disease can lead to long-term developmental delays, if not treated properly. But, a wheat allergy/sensitivity need not be life-threatening, and handled like lactose intolerance. Just change the diet, and the child is fine.

Because my daughter is only two, it is hard to get reliable feedback as to how much discomfort she is experiencing. You are fortunate that your daughter can relay her own feelings concerning her diet. Hoping that all of your family has continued success on your new diet.

It's wonderful that you guys caught it early. My son just turned 10 and he's suffered way too long. It was tollerable for years, but in the last two years he's almost been crippled with this problem. The problem was he had a concussion that confused matters and the drs thought his migraines, depression and learning difficulties were from that. Just by luck we stumbled on to a wonderful doctor who insisted we do full blood work before we went any further. The glut. sensitivity showed up along with a severe vit B problem. (Yes, we fed him well, but he couldn't digest it.) This explained why he couldn't think or remember anything. In addition to all this, his body breaks down the gluten wrong so that it behaves like morphine on the brain. Thus, he acted drunk some of the time.

Right now, I have a new kid. He's happy, smart, healthy and GROWING! (1/2 inch in the last two weeks, after a two-year stall.) We still have another 5 months to go before he's fully recovered, but if it gets any better than this, I'll be in heaven! For the first time, I'm seeing hints of the man he will become and I like it. He takes massive doses of vit. B complex and fish oil to help his brain recover from the malnutrition and it really does help. We can tell if he forgets it.

I'm sorry to go on and on, but this is really a miracle for our family that I'm not used to yet. There's hope and just remember these three little words; rice and potatoes! :-)

If you would like any help with the diet thing, just FReep me.

www.celiac.com is a good website, for information. They have a newsletter, and can give you recipe tips, too.

Isn't it wonderful that your son has made such improvements? I know you must be thrilled, watching how he has changed and how much better he is doing. The diet can be a struggle, and my heart goes out to you. But, having already seen so many changes, you know that it has great benefits for your son.

Again, my daughter doesn't have celiac disease, today. However, we will be attempting to make dietary changes, just to give her relief from her symptoms. And, in having the testing done, we learned that she could develop it when she is older. We are just relieved that today we have the information that we need, so that should anything arise we can seek out medical assistance immediately.

Best wishes to you, as you marvel at all of the changes. I know you must be so pleased with the progress. Having medical answers can truly alleviate our worries as parents. And I agree with your assessment that this is a miracle. Miracles do happen, and we give thanks for them.

I'll let you know how things progress with my daughter.

Best wishes to you and yours.

Disclaimer: Opinions posted on Free Republic are those of the individual posters and do not necessarily represent the opinion of Free Republic or its management. All materials posted herein are protected by copyright law and the exemption for fair use of copyrighted works.