Genetic testing: too much information?
This lengthy NY Times piece about the unexpected fallout from the ability to perform genetic testing and get information on susceptibility to certain diseases describes the dilemma faced by unmarried and childless 33-year-old Deborah Lindner in weighing her options after discovering she carries a gene that predisposes her to a 60-90% lifetime risk of developing breast cancer, and a high risk of ovarian cancer as well. Preventative mastectomy? Ovaries removed? If not now, then when? Have children first and do it later?
Although some would consider Deborah’s situation to be the essence of privileged yuppiedom—having the resources to know such information in advance, and to act on it—this isn’t about possessions or status, it’s about life itself in its most basic sense.
I’ve had friends facing similar decisions, both about breast cancer and other genetic diseases, and watched them struggle to come to terms with their still-uncertain futures. Leaving aside the medical issues (you’ll learn some of them if you read the article) the larger question is how much information do we want, and how much responsibility? Does there come a point when we have information overload, and the stress becomes greater than any benefits obtained from what we’ve learned? Does knowledge of this sort give us merely the illusion of control, rather than true control? Life, after all, is always a roll of the dice, and getting more statistical information about chances and probabilities only tells us what might happen to us, not what will happen to us.
So far, I come down on the side of thinking the more information we have, the better. Even if the genetic disease in question is one that can neither be cured nor prevented—such as, for example, Huntington’s chorea—testing could help a person decide whether it’s safe to go ahead and have children. But I can also understand why someone would elect not to know, and to live in the relative bliss of ignorance as long as possible.
For most of us, fortunately, there’s no dilemma; our families don’t carry the sort of diseases for which such testing has been developed. But sooner of later the ability to know will expand, and it might become standard to discover our genetic vulnerabilities to far more common illnesses, the sort that affect us all sooner or later: heart disease, other forms of cancer, diabetes, bad backs.
In my case, for example, I’m pretty sure that I’ve inherited a form of collagen weakness that affects the spinal discs, a mutation of the COL9A gene. But when you come down to it, so what? It neither guides treatment nor decision-making nor tells me much of anything, except what I already know, which is that disc problems run in my family, and I’ve had my share—at least, I hope I’ve had my share and am done with the thing. So I’ve not had the test; why bother?
Some day we may be able to project just how long we’re likely to live, barring accidents—and maybe even how prone we are to accidents (as a lefty, some say I’ve got a slightly increased chance of them, although that’s been disputed, as well). I’m not sure it will help us.
Everyone alive is inherently a gambler, whether we like it or not, and all decisions must be made with a roll of the dice. Still, it’s good to know the odds; even gamblers tend to do better that way.
what would you do with a person who goes into a self destructive lifestyle upon learning such genetic fate (doom?) awaits them?
while some … most? would, once adjusted, make the appropriate life changes. others cannot do so. what of them?
I’m with you on this one Neo, for certain things. My sister in laws for example, both have been tested after watching their mother go through a horrible treatment and death of ovarian cancer, one of the fastest and deadliest silent killers. Since they both had already had their children, the opted for complete hysterectomy. Not an easy choice.
I’m glad that the technology exists that allows us to make those choices concerning our health.
Good post!
The overuse of diagnostics is a big cost driver in medicine. Most of it is driven by fear of lawsuit, but some of it is a lack of confidence by the physician. In my business (engineering) my rule is not to recommend a test unless it would result in some action to remedy the problem and if the reliabilty of the test is high. Ambiguous test results are nothing but trouble and worry.
Most people are terrible at statistics and probability. To throw at them multiple and confusing likelihoods of disease over many years of remaining life is not providing knowledge, but a costly boasting by the geneticist.
The scope of the problem became more clear if a certain mostly unknown fact acknowleged: everybody carries around 30 defective recessive mutations coding debilitating heriditary diseases. They do not make you sick, because one have to inherit them from both parents to develop symptoms, and probability of it very small if the parents are not close relatives. But in some ethnic groups this probability becames alarmingly high, because these populations recently (less than 10 generations ago) had so called bottleneck, that is are descendants of a small minority group. The classic example are Ashkenazy (East European) Jews. In this population about 10 very serious heriditary diseased were rampant, until genetic testing made possible to predict chances of inheritance of them for given pair of parents. In orthodox communities a special service was organized to test for these genes and select compatible pairs for dating. This dramatically changed the situation, and now the most frequent genetic syndroms like Tay-Sachs disease almost disappeared among Jews.
Cost of genetic testing dramatically reduced during last decade with advent of new technologies like biochips, PCR and DNA fingerprinting – more than thousand times. And there is a tremendous potential of reducing cost of traditional diagnostics and treatment by focusing on risk groups defined by genetic testing. Soon a genetic passports for every individual will become required for medical insurance.
B”H
When I was pregnant with my husband and my first child, I went in for what I assumed was a regular sonogram. Without my knowledge, they did a “nucel fold” test, and then informed me that my child would have Downs Syndrome. I did not approve of such a test, and I wouldn’t have approved if they had informed me. (I don’t believe a test that doesn’t change things should be done.)
My pregnancy was destroyed. What had been a beautiful time for my new husband and I to bond was replaced by fear and loathing. We dreaded the outcome of the pregnancy and prepared for the worst. I said Tehillim every day. I cried constantly.
B”H, My child was born healthy, without any disability. I had gone through seven months of hell, but he was fine.
The damage was done to our marriage, however. My husband feared having any more children. He didn’t want to take a risk. It was two years before we would try again, and my husband is still gripped by such fear that he won’t allow himself to enjoy this time and look toward the future with our next baby.
I harbor such anger at that doctor for what he did to us that my feelings are almost beyond words. Just because one CAN doesn’t mean that one SHOULD. Such testing should never have been done without consent.
M
This last weekend, I was at a Relay for Life event, to help raise funds for cancer research.
All I can say is that if cancer is a genetic disease, then a very large proportion of the human race is predisposed to it, looking at the number of cancer survivors that were there, and the cancer victims being mourned. I think they’re trying to pass off something as being genetic in origin that might actually be caused by a number of things.
I think the medical establishment actually knows a lot less about genes, diseases and how the former affect the latter, then they pretend to. I’ve heard it said that they’ve narrowed autism down to “75 genes, that might be involved!” Yippee, boys. Call us when you actually find something, ‘kay?
Actually, it is not genetics, but developmental biology that traces pathes from genes to traits. And this is a very complex and poorly understood field: too little effort and money were invested in it in comparison to much more simple field of genetics. I only hope that this fallacy will be corrected in future. As for sonogram, it can not give accurate diagnosis of Down Syndrome, it is only preliminary before actual genetic testing and is done routinely to select those who shoud done the latter. If you have done it, it would gave negative result and spare you all this anxiety.
Cancer is not a single disease, but a broad generic category for many different diseases, and some of them are certainly hereditary, that is, run in families; in many others genetic predisposition is suspected. As for autism, such narrowing is a big success, not for medical practice, but for further studies. There are millions of genes in human genome. Function of only a tiny fraction of them is known, and mechanisms of its realization only for a tiny fraction of this fraction.
Add false-positives to the downside. In the 1950s govt sponsored caravans went around doing chest x-rays to detect lung cancer early. The false positives outnumbered the true cases, leading to more sophisticated statistical checks for supporting indicators to guide the diagnoses.
“An authentic soothsayer should be shot on sight. Cassandra did not get half the kicking around she deserved.” From the notebooks of Lazarus Long, by Robert Anson Heinlein
Just imagine all the things people might not do because they lived in fear. All the accomplishments, all the children never born, because of fear. To ‘preserve’ life. Life is to be lived, not bottled.
When we got high risk for downs test results during our second pregnancy, we learned much about this subject. Fortunately, our concerns were mitigated by further testing, but we introduced additional risk to the baby to get that determination. We decided that the stress of worry was a great enough negative that the small risk was worthwhile, but it would have been better never to have tested in the first place, but here in California, it’s ‘mandatory’. In my opinion, it should be by request only. I like Dave’s formula:
“In my business (engineering) my rule is not to recommend a test unless it would result in some action to remedy the problem and if the reliabilty of the test is high. Ambiguous test results are nothing but trouble and worry.”
Fortunately, there are clever ways to do genetic testing efficiently without giving out too much information to applicants. See amazing success history of Dor Yeshorim program:
http://www.shidduchim.info/medical.html
Let’s take this up a notch. What if the genetic testing results became available to your employer? Some employers are now firing or downsizing fat employers because of the added health costs. What if the employee has something like lipodema (which is genetic) which makes them fat through no fault of their own?
I am positive for CRP – Cardio Reactive Protein. I will probably die the same way everyone else in my family has – heart disease. So should I get a bypass now?
You’re right – this may be too much information.
This is a fascinating and very substantive topic that impacts our lives and how we live with new sets of challenges and choices to make. I would suggest that in the area of understanding the human genome and how genes impact health is just unfolding as the pace of research snowballs and, “we ain’t seen nothin yet.” As in so many areas of science, the available knowledge base far outpaces the ability of society to adjust and develop mechanisms to cope with the new understanding. Even in the Western societies, where virtually all signifcant scientific advances have been institutionalized and made “normative” in the sense of Russell and Kuhn, society still has difficulty understanding and dealing with knowledge. The situation is even more difficult in non-Western societies where even the germ theory of disease, the cause of AIDS or the equality of women are still debated, and perceptions of “prophets” makes it desiteable to kill and maim innocents.
In the “progressive” West, prime examples of course swirl around Darwinian evolution as well as physics and astronomy. Medical advances, based largely on the work of geneticists, have opened new opportunities for understanding the genesis of disease and options for dealing with disease, even before the ailments appear. Developmental biology in all organisms has advanced amazingly, with direct implications for humanity, but the social mechanisms, “the comfort level” for dealing with this new understanding may never “catch up” simply because the pace of knowledge gathering, science, is so much faster than the development of societal coping mechanisms.
I’m far more interested in finding actual cures for diseases such as cancer, autism, heart disease, etc. than I am in knowing exactly what genes might, or might not cause them, given that they might be working along with other genes that do this, that, zub, zub, zub.
The whole testing thing is just too vague at this point. And, as Barbara says, what are we supposed to do in a lot of cases? Get open-heart surgery right now, or have healthy body parts removed, because they might possibly get cancer someday? Seems to me there are health dangers involved in this so-called preventive care.
Why is genetic testing fundamentally different from any other type of precautionary testing? My father became diabetic later in life, for example, so I regularly get tested to see if I’m also becoming diabetic. Barring some breakthrough there’s no way I can “cure” diabetes if it ever shows up, but I can definitely avoid (or postpone) many of the side effects. Being diabetic would be inconvenient; being blind, lame, or on dialysis would be a whole lot worse. And, hey, maybe in 20 years I’ll be able to keep a cloned kidney, just in case.
How is the woman in the example any worse off? Now she knows that she needs to be examined regularly for those types of cancer. If they turn up they can be caught early and treated quickly. I’m sure there are cancer patients dying right now who would have given anything to have that same burden of knowledge a few years ago.
And the doctors now know what tests to prioritize and which can wait. That means fewer unnecessary tests. Isn’t that a good thing?
People certanly have both: right to know and right to do not know. So I absolutely against any mandatory testing, genetic or other. But it reveals a lot – what a given person chose. Knowledge means responsibility, and many chose to avoid it. Not a wise choice, in my view.
while we can certainly hope people will make the right choices for themselves, we can neither force nor demand a response of reason over emotion. people live their lives to the best of their ability, limitations inherent and chosen.
given a 80% chance of getting a cancer, say a colon cancer, what would you do? close surveillance can only detect the cancer once it develops, and once it develops, it can spread. if there is no colon, there cannot be cancer. but when would you have it remove? and then live possibly with a colostomy? and then have other cancers develop outside the colon, cancer that would have only developed after you should have died from the colon cancer had you left the colon in place.
reason is important but can never over rule the emotional response we have have as subjective emotive beings. and the answers are never as clear as you might think. afterall, in science, answers only spawn more questions.
“And the doctors now know what tests to prioritize and which can wait. That means fewer unnecessary tests.”
If you believe that, I’ve got a bridge in NYC to sell you.
“But it reveals a lot – what a given person chose. Knowledge means responsibility, and many chose to avoid it.”
Yes, but in most instances, we’re not talking about ‘knowledge’ we’re talking about risk and probablility, and that’s a much, MUCH fuzzier subject. Most people have great difficulty weighing all the options and risk/reward formulas, and will often make poor decisions when given partial information in the form of information of ‘increased probabilities’ or ‘higher risk’, as opposed to definitive answers like ‘you have early-stage cancer…’
If it was definitive information we were getting, I think most people would have little trouble making decisions. With what we’re getting in most cases, even doctors have vastly different opinions on what course of action to take for any specific case. How can you expect the neophyte to do any better?
And, as I said earlier, I think doctors know a lot less about genetics, and its effect on disease, than they’re willing to admit. Unfortunately, I don’t think they’re going to pass up any opportunity for more and more expensive testing, and for more surgeries (and more money), whether such surgeries are actually helpful or not.