"I live with knowledge of my own death," she told me. "I found out I have the Alpha mutation, and that it will eventually kill me."
Individuals who learn they have a genetic mutation often feel this way. They may struggle to cope with this sense of fate, and frequently wonder: "Why me?"
The answers are not easy.
Genetic testing is on the rise and beginning to confront us with profound questions of who we are, and why. The human genome was first decoded only 10 years ago. But the price of sequencing the full 3 billion "letters" that make us has fallen from $1 billion per person, and soon will be less than $1,000 per person.* Hence, many medical centers are now arranging to sequence every patients' genome. In a few years, most, if not all of us will have our full genomes mapped, whether we like it or not. We will learn what mutations we each have, and what diseases we may get.
This knowledge can potentially help in preventing certain diseases, and determining which medications, at which doses will work best for us.
But this information will also confront us with enormous questions that involve not only science, but metaphysics. Mutations differ in their penetrance, and the diseases they cause vary in lethality and treatability.
But for those with certain mutations, these questions are all too real.
Recently, I interviewed a group of individual who faced diseases for which genetic tests existed. Huntington's disease (HD), for example, is a neurological and psychiatric disuse that results from a mutation and has no effective treatment. If an individual has it, each of his or her children has a 50% chance of getting it as well. Genetic tests exist for breast cancer, Alpha-1 antitrypsin deficiency (or "Alpha" -- a rare enzyme problem), sickle cell anemia, and many other ailments. Many individuals who confront these disorders get tested, while others debated what to do.
But those who get tested then face several quandaries.
"I know that my symptoms come from the mutation," one woman told me. "But what gave me the mutation?" Why did I get it and not my brother?"
We generally seek causes - especially for bad events. We want to know why tragedy happens - who or what to blame. Genetic tests appear to offer reasons - insights into the underlying biological processes. Genetic markers are being increasingly identified that predispose one to various ailments.
But the fact that these tests provide information about one's future - even if just partially --prompts searches to understand what exactly this predictiveness means, and how to interpret it and incorporate it into one's life.
This sense of predictiveness - even if not complete - provokes feelings that key events in our lives are somehow predetermined or preordained - that an external agency must somehow thus have power and influence over us. They feel "doomed" or "cursed"
Yet this idea challenges notions about free will. These tests thus force many people to wrestle with the extent to which we are by-products of our genes and environmental factors vs. free agents, governed solely by our own will.
Some people accept purely physical explanations of these diseases. But most look to mixes of various physical and metaphysical possibilities that they then struggle to understand.
"Why did God give me these genes?" one woman asked.
Some feel that God is the ultimate cause of disease, but that one's behavior - especially diet and exercise can nonetheless shape the course of the illness. Others don't know what to believe and ponder the "cosmic roll of the dice." "There has to be a purpose to all this happening," one woman told me. "There has to be."
Unfortunately, we are not very well prepared to grapple with these dilemmas.
Yet while physicians and scientists usually see genetic tests as similar to other medical tests - as giving definitive answers one way or the other -- these new tests will give much more ambiguous information, and pose more difficult quandaries.
"For the first time in my life, I wish I were more religious," one woman who just found out she had the breast cancer mutation told me. "It would make things much easier." Many of these individuals would not at all have considered themselves religious, but now found themselves pondering these metaphysical issues -- suggesting that an underlying realm exists of spiritual questions and concerns, even if inchoate.
Genetics will soon compel many of us wondering what it all means.
*These figures have been updated.
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