When disease is inevitable

As every American knows, our health care system is exasperating. I recently left a job; fortunately, I’m healthy and relatively young, so obtaining temporary insurance was not a problem. But for those who have been seriously ill – either physically or mentally – it can be difficult or impossible to find affordable insurance. Genetic information is becoming yet another reason to fear rejection, even if you’re healthy.

A recent study led by researchers at Johns Hopkins found that individuals with a history of genetic conditions (including sickle cell disease or cystic fibrosis) were twice as likely as individuals with other chronic illnesses (such as diabetes or AIDS) to report being denied insurance. Although asymptomatic individuals carrying disease-causing alleles cannot legally be singled out by insurers (according to HIPAA, the Health Insurance Portability and Accountability Act), individuals diagnosed with the disease itself have no such protection. The subjects of the Johns Hopkins study had already been diagnosed, which is likely the case for most people with known genetic diseases; there is rarely reason to test for particular gene aberrations in the absence of symptoms, unless a close family member is affected. So insurers were not breaking the law by denying the subjects coverage. Still, it is provocative that the subjects with genetic diseases were treated more poorly than those with non-genetic, but quite serious, conditions.

The umbrella of “genetic diseases” usually includes disorders caused by single aberrant genes, such as cystic fibrosis, PKU, hemophilia, and Huntingtons disease. But genetics also predispose people to diseases like breast cancer or colon cancer – conditions for which certain forms of genes are associated with significantly elevated (though not certain) risk. BRCA1 and BRCA2 mutations account for only about 5% of breast cancer cases – but a woman with one of these mutations is 3 to 7 times more likely to develop breast cancer than a woman without a BRCA mutation (reference). Still other genes, such as PALB2, are likely responsible for some non-BRCA breast cancers. It’s unclear how many cases of breast cancer are genetically triggered, because the genes responsible are still being identified. Recent studies have also found genetic risk factors for conditions as diverse as autism, schizophrenia, and Parkinson’s disease; although we know next to nothing about how aberrant genes contribute to these neurological conditions, we can say that individuals with certain alleles have elevated risk. Increasingly, these conditions are also considered “genetic.”

Basically, there is no clean line between a “genetic” and “non-genetic” condition. I’d have difficulty naming a disease with no genetic contribution. Skin cancer is caused by UV light exposure – but people with dark skin have much lower risk, because melanin is protective. Individual genetics impact blood chemistry, weight, and metabolism, influencing our risks for obesity, heart disease, diabetes, and stroke. Blame diet, lack of exercise, or stress if you wish, but our genes determine how we respond to those environmental factors. Even contagious viral or bacterial diseases are influenced by genetics. Individuals with certain alleles are more resistant (either to infection or to disease progression) than others. For example, a partially deleted form of the chemokine receptor CCR5 protects against HIV infection. We’d like to think everyone has a fair shot at good health, but it’s clearly untrue. We have to work with the genes we’re given, and some people are simply dealt bad hands.

Even if the game is fundamentally unfair, one thing we can do is give individuals the opportunity to know their genetic hand, without fear of workplace or health care repercussions. Individuals should have the right to learn if they or their children have genetic disorders, so they can make life decisions accordingly, and obtain treatment as quickly as possible. For some genetic disorders, early treatment can be spectacularly successful. This is why states require a battery of genetic tests on newborns – not to burden parents with knowledge of an inevitable illness, but to intervene early, when diseases like PKU can be managed almost completely.

On the other hand, many genetic disorders remain uncontrollable – and unpredictable. Parkinson’s disease and schizophrenia both have late onset; for a young adult, learning that your genes predispose you to one of these disorders must be terrifying. You don’t know if the disease will hit at all, much less how long you’ve got, or how bad it will get. I don’t think I’d want to know, myself – but people should have the right to choose. Obviously, insurers and employers would also like to know if you or your child could develop a costly genetic condition, and they would, if allowed, act on that information to minimize their own risks. The fear that your genetic information could justify discrimination against you is not merely a GATTACA-worthy plot device; it’s a very real deterrent to being tested at all.

To address this reality, both halves of Congress are working on legislation which would establish stronger protections for genetic privacy (The Genetic Information Nondiscrimination Act of 2007, or GINA). Richard Posner and Gary Becker have an interesting discussion at their blog about whether GINA would indeed ensure fair health coverage or promote genetic testing. Posner makes the point that some uncertainty is necessary to maintain a functional private health insurance system:

The broader point is that the more that science reduces uncertainty about individuals’ health, the less risk pooling there will be and the greater, therefore, the demand for social insurance. In the limit, if everyone’s health prospects were known with certainty, there would be no market for health insurance at all and this would exacerbate the effects of differential health on equality of wealth; no longer would the healthy be paying to insure the unhealthy.

In the current, anxiety-inducing age, researchers have identified oodles of risk factors, and perhaps uncertainty about individual health is indeed being gradually reduced. But amidst all this information, we can feel like we have less and less control over our health. We aren’t sure if we should or shouldn’t drink red wine, or eat dark chocolate, or take NSAIDs. The research is rarely unequivocal; we are not all genetically equivalent. Even if I diligently avoid all the known environmental risk factors for breast cancer, I might have a BRCA mutation, which swamps my risk from all other sources. We can’t change our genes, any more than we can change our stars; why even try to be healthy? On the other hand, even if I don’t have a BRCA mutation, I could still get breast cancer anyway; perhaps I should hedge my bets and drink soy milk. . .

No one is perfect, no one is perfectly healthy, and no one is risk-free. We all have defects somewhere in our genome; we are all predisposed to something unfortunate, whether we know it or not. When whole-genome testing becomes routine, will we feel obligated to use our new genetic knowledge to choose our partners, or select our children? How serious will a genetic “defect” have to be to concern us? What about myopia? Baldness? Allergies?

These questions are by no means new. What is new is how close we are to actually having this kind of information. Private companies already offer at-home, a la carte genetic testing. This makes me very nervous: I doubt the average American is qualified to understand that risk is not certainty (10% of BRCA mutation carriers don’t get breast cancer, after all). It’s also unclear what a patient is expected to do with the genetic results if the disorder is untreatable. These companies neglect to tell their customers that too often, genetic knowledge does not equal power – not yet. Until we are able to convert this knowledge into productive action, maintaining some uncertainty about our genetic fates may be a healthy option. At least ignorance is compatible with hope.