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Until recently, three unspoken principles have guided the arena of genetic diagnosis and intervention. First, diagnostic tests have largely been restricted to gene variants that are singularly powerful determinants of illness—i.e., highly penetrant mutations, where the likelihood of developing the disease is close to 100 percent (Down syndrome, cystic fibrosis, Tay-Sachs disease). Second, the diseases caused by these mutations have generally involved extraordinary suffering or fundamental incompatibilities with “normal” life. Third, justifiable interventions—the decision to abort a child with Down syndrome, say, or intervene surgically on a woman with a BRCA1 mutation—have been defined through social and medical consensus, and all interventions have been governed by complete freedom of choice. The three sides of the triangle can be envisioned as moral lines that most cultures have been unwilling to transgress. The abortion of an embryo carrying a gene with, say, only a ten percent chance of developing cancer in the future violates the injunction against intervening on low-penetrance mutations. Similarly, a state-mandated medical procedure on a genetically ill person without the subject’s consent (or parental consent in the case of a fetus) crosses the boundaries of freedom and noncoercion. Yet it can hardly escape our attention that these parameters are inherently susceptible to the logic of self-reinforcement. We determine the definition of “extraordinary suffering.” We demarcate the boundaries of “normalcy” versus “abnormalcy.” We make the medical choices to intervene. We determine the nature of “justifiable interventions.” Humans endowed with certain genomes are responsible for defining the criteria to define, intervene on, or even eliminate other humans endowed with other genomes. “Choice,” in short, seems like an illusion devised by genes to propagate the selection of similar genes.
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