The Gene: An Intimate History

Mukherjee makes a radical case for changing the way society views genetic conditions, since what are considered “illnesses” are simply mutations at the statistical level. Mutations being natural, treating all genetic illnesses as a pathology is counterproductive. Throughout the text, Mukherjee thus emphasizes the shifting line between normalcy and mutation. 

Mukherjee also argues that ideas of “illness” and “fitness” change with time. As an example, progressive myopia or near-sightedness was once viewed as an “illness,” but is now seen largely as a manageable condition. Mukherjee draws on the landmark clinical approach of physician Victor McKusick to suggest that genetic disorders be treated by altering the environment rather than trying to “cure” the individual. If society adopts McKusick’s view of genetic illness as a mismatch between mutation and environment, the race to produce perfect, fit individuals would be tempered by empathy and restraint.

Mukherjee uses examples to illustrate McKusick’s view of illness. He argues that a tall man would be seen as a “mutant” in a nation of little people, as would “a blond child born in a nation of brunettes” (264). Further, both these cases are mutants in the same sense as “a boy with Marfan syndrome […] among non-Marfan, i.e., ‘normal’ children” (264). However, because in the case of Marfan Syndrome, the mismatch between organism and environment is so extreme as to impair quality of life, the mutation is seen as a disability. Mukherjee does not suggest that the disability be undermined, rather it should be seen as a statistical fact. In another hypothetical environment, a child with Marfan could have a longer life-span, a child with autism would flourish.

Another important facet of the shifting definitions of illness and fitness is that “fitness” is a normative concept. A few generations ago, a woman was considered to be intellectually inferior to a man, and in 1985, the hugely popular book The Bell Curve argued that “whites and Asians possessed higher IQs on average, and Africans and African-Americans possessed lower IQs” (343). When the norms of “fitness” are so rigid and misguided, any outlier can be seen as unfit. Further, fitness and illness, normalcy and undesirability, are often impossible to separate in nature, as scientists informed Galton when he argued for sterilizing “unfit” specimens. Galton was told that fit and unfit often coexisted and nature was filled with “defective geniuses” (74), such as severely asthmatic John Calvin and life-long battler of depression, Charles Darwin.

The idea that “defect” and “genius,” illness and fitness, are co-existent crops up throughout the book and offers a major ethical challenge in the future treatment of genetic diseases. The question the book poses is whether the treatment of a mutation may also “treat” the other, unique aspects of the individual, such as bursts of creativity linked with bipolar disorder or the agreeableness of temperament associated with Down’s Syndrome. Mukherjee acknowledges that the conundrum has no easy answer, but revising one’s definition of “normal” may help provide more clarity.