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Some Things to Think About with the New World of Medical-Screening Tests

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While I was on a break from the ski slopes during our recent Christmas vacation, I started chatting with the guy sitting across the table from me. We talked about the snow…kids deserting us parents on the slopes…where we were from…and then, oddly, we ended up talking about colorectal cancer screening. Weird, right? Not so weird when it turned out that I was talking to the CEO of the company that makes the Cologuard colon-cancer screening test. Not your normal lunch-table conversation, but fascinating enough that others nearby joined the conversation when we started to discuss this stool test’s reliability and safety versus the traditional “gold standard” colonoscopy, which is expensive, somewhat risky and imperfect. You can take the Cologuard test in the privacy of your own home—without having to go through that miserable night of intestine-emptying prep.

When you compare the price, the prep and the risk associated with colonoscopy versus Cologuard, Cologuard is definitely a worthy contender depending on your risk factors. Of course, my doctor, who specializes in colonoscopies and is an investor in a specialty outpatient surgical clinic, might not be happy about Cologuard because it will be a direct threat to his income.

Cologuard and other colorectal-screening tests are the tip of the iceberg when it comes to improved screening not just for cancer, but for many other diseases as well. Done correctly and with proper oversight, these tests can catch disease early and improve outcomes if the test results come back positive.

In addition to Cologuard and the well-established BRCA gene test for breast and ovarian cancers, there are two exciting tests that were recently approved by the FDA and now are covered by Medicare and many insurance plans. The first is CGX, which screens for genetic markers for solid-tumor cancers, including cancers of the brain, ovary, breast and colon. This test is beneficial for people with a family history of cancer and/or whose ancestry places them at higher risk. CGX screens for 134 different gene markers and eight common cancers and cancer syndromes and comes with full genetic-counseling support. Knowing whether you possess any of the genetic markers can allow you to take appropriate preventive steps to reduce your likelihood of contracting cancer. And it is a huge step for the insurance industry and Medicare to finally realize the value of prevention versus the cost of treatment—no cost to the patient…reduced long-term expenses for the insurance companies…and, oh, better outcomes for patients themselves. Win-win-win.

The second test, PGX, may be even more important in some ways. Why? Because there are hundreds of millions of people who are currently taking medications that are either ineffective or potentially dangerous for them. Bottom Line has written about the fact that new medications are tested primarily on “average-sized middle-aged men,” which means if you are older or younger…larger or smaller…or female…you may respond differently to those medications. It is well-documented, for example, that children and young adults may have suicidal thoughts when given certain antidepressants. Beyond size, age and gender, scientists are discovering that not everyone responds to medications in the same way, even though they are prescribed universally. I’m talking about blockbuster medications that may be misprescribed based on your ancestry, ethnicity and genetics—antidepressants, cardiac medications, blood pressure medications, blood thinners…more than 200 medications for which people may be receiving either the wrong medication or the wrong dose! There are hundreds of thousands of medication-dosing errors each year—how many are due to the fact that people are simply being given the wrong medicine or dosage?!?!

While I tend to knock mainstream medicine, these tests actually are saving lives, improving outcomes and potentially reducing health-care costs. And they’re covered by Medicare and most insurance plans. That’s huge!

Of course, nothing is simple. Genetic screening for cancer and other disease markers, in particular, raises some ethical questions, especially when it comes to do-it-yourself testing.

The airwaves are filled with ads for home-screening tests to check your ancestry…and for certain genetic markers for disease. Wouldn’t it be nice to know if your great-great-grandparents were from some part of the world other than what you assumed? Maybe. But what if that comes at the cost of your privacy or increased anxiety?

More than 20 years ago, I could not get an amniocentesis to check the genetic profile of my unborn children without also agreeing to genetic counseling if a problem was detected. Now you spit into a tube and soon receive a “genetic report” that theoretically details your risk for a certain disease—except that some of these tests do not thoroughly test for risks…and an e-mailed report and optional conversation are not the same as a required appointment with a genetic counselor. Do I really want to know that I may be heading into a “brick wall of death” if some genetic marker comes up positive? And since having a gene does not guarantee that someone will get the disease, is it irresponsible to give people this information without appropriate counseling? These are both important considerations.

Then there’s the issue of privacy…

As a Christmas gift, my husband bought 23andMe screenings for the four of us—he thought it would be fun for us to get a better picture of our family trees and for our daughters to get a lesson in genetics. But in the end, we did not complete the tests. Why not? Because after reading the terms and conditions associated with the tests, we learned that our genetic results could be made available to every medical marketer on the planet. Even worse, the results may have affected our risk for future health and life insurance coverage. Oh, yes—you may be denied health, disability, long-term-care or life insurance depending on the results of your test and the type of insurance you have. Finding out my actual Polish:Austrian ratio simply isn’t worth the price of my privacy or my insurance.

Genetic testing is not a game. Nor is cancer screening. They come with risks and rewards. It’s exciting to see the inroads scientists are making. Just be sure that if you hop on any of these bandwagons, you do it with full understanding of what you hope to gain and the price you may pay for it.

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