Don't bury your head in the sand
Pam Bale knows what she wants to get her three children for Christmas. Two of Pam’s children are in their 20s and the other is 30. In other words, a little too old for video games. So they’re not getting a Wii or Guitar Hero. Instead, Pam wants to surprise her kids on December 25th with a genetic test.
A what? Pam’s interested in the deCODEme genetic test that scans a patient’s DNA for genes that are linked to 36 diseases and conditions, some minor, like lactose intolerance or male pattern baldness, others very serious such as heart attack, stroke, diabetes and bladder cancer.
But a genetic test for Christmas? That doesn’t sound very jolly.
“I think the kit would open up all sorts of doors to their future,” says Pam. “They are young adults, and at their ages the test can show them what medical concerns they might face down the road. They are young enough so they can take the steps to avoid those concerns. It would make their whole future happier and healthier and extend their lives. I think it’s a great gift to give to my kids. So don’t tell them. I don’t want to ruin the surprise.”
Despite Pam’s enthusiasm, the deCODEme genetic test might still seem like an odd gift to put under the tree until you understand that Pam’s husband is Dr. Bradley Bale, Medical Director of the Heart Attack Prevention Clinic and an authority on preventive care. Having been an administrator at Dr. Bale’s prevention clinic, Pam has seen first hand the way in which the deCODEme genetic test can positively impact a patient’s life.Take Dr. Jeffrey Gulcher, deCODE’s chief scientific advisor, who took his deCODEme genetic test only to find out he had an extremely high risk of developing prostate cancer. Dr. Gulcher then went in and had a blood test to measure his PSA levels, which were high, but in the normal range. Normal procedure is to wait a few years and see if PSA levels rise. But because Dr. Gulcher’s genetic test pointed to a high inherent risk of developing prostate cancer, his GP sent him to a urologist who gave Dr. Gulcher an exploratory ultrasound. Sure enough, the ultrasound revealed an aggressive form of cancer. Dr. Gulcher went under the knife and had the cancer removed before it spread.
The list of patients who have taken the deCODEme genetic test and then undergone preventative measures to ward off future diseases is getting longer. Some patients find out they have a high risk of contracting type 2 diabetes, and therefore change their diet and shed some extra pounds to lower their risk. Others take medication to lower their glucose levels. A third group have more dramatic stories to tell, like Dr. Gulcher. But Pam didn’t need any more convincing. She decided it was time to take the test for herself.
“I’m interested in knowing what my medical future has in store for me. I’m nearly 60. Since I’m looking forward to maybe 20 years of great life ahead of me, I want those years to be as healthy and active as they can. If there is anyway I can avoid or prevent a problem I want to do that. I’m hoping the test will give me the key to what I need to work on,” Pam says.
Breast cancer. It is the most common cancer among women in the US, other than skin cancer. So for obvious reasons, Pam wanted to find out what her inherent risk was of contracting the second leading cause of cancer death in women. What made Pam more eager to find out was that years ago she had a brief scare when she had a lumpectomy removed that turned out to be precancerous.
“I had a reason to be concerned about breast cancer. Sure enough, the deCODEme genetic test indicated that I had a higher risk than the average woman. So after talking to my physician, he recommended that I take the newer MRI of the breast rather than the typical mammogram. So thanks to deCODEme. I now have the opportunity to use a newer diagnostic tool to help protect me. So right there, as far as I’m concerned, that one piece of information was worth every penny I paid for the test. “
“The more information we can get the better we can protect ourselves,” she says.
This is exactly the reason Pam wants to give her children the deCODEme test for Christmas. “I wanted to know my risks for my daughter’s sake. She shares my genes. She comes from me. So I’m interested to see what her risks are. If they are increased because of me. It could save her life,” Pam explains.While the utility of deCODEme’s genetic test is becoming more and more apparent with each new gene scientists can map and relate to diseases, Pam understands that the younger generation, her kids, might not be ready to take a genetic test.
“Kids in their 20s think they’ll live forever. So they may not want to worry about what might come in the future,” she says.
Pam brings up an important point. Is it really a good idea to get tested when you’re young and healthy? Pam is convinced that knowing is better than not knowing.
“Some patients might not want to know their medical future because they’re worried there might be something out there lurking. But I don’t feel that way. We are learning more and more about how to prevent certain medical problems. If we don’t know what our future problems might be how can we avoid them? It’s like saying, I’m just going to wait until a car runs me over.”
But what if that car driving towards us is Alzheimer’s disease. At the moment there is really very little we can do to avoid that eventuality.
“If there’s nothing you can do to avoid Alzheimer’s you’re still better of knowing about it. You can make sure that whoever is going to be in charge of you when you’re older can be prepared, both financially and knowing what signs to look out for. You can help ease their burden. Let’s be responsible adults. Avoiding a problem helps nobody.”
Pam makes a cogent point. The better we prepare for what might strike, the better our loved ones will be prepared to choose a care facility for us if and when we can no longer live independently. Care plans can be worked out in advance so loved ones don’t have to try to guess what their parents’ wishes might be. Also, as Pam rightly points out, it’s only a matter of time before we know more abut Alzheimer’s.
“If your gene profile suggests you have a high inherent risk of contracting Alzheimer’s why not educate yourself? Find out everything you can be doing, physically, emotionally, what is there you can do differently, from taking drugs, herbs and vitamins. If I thought I was headed for a problem I would do something about it. I would not try to avoid it.”
She adds: “Let’s not bury our head in the sand.”
