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Genetic testing, autism, and “fixing” the pathological body

2678541254_029f25704b_zHow do we know what is pathological, versus what is normal? It seems obvious until you start thinking philosophically, which was the goal of a panel hosted last week by the Science and Justice Working Group at University of California, Santa Cruz. The event was titled "'Fixing' the Pathological Body," a pun on how fixing can mean both repairing and immobilizing.

An anthropologist, a philosopher, and a geneticist discussed how simple, everyday practices like using particular words or certain tests define a line between pathology and normalcy. That line has a huge impact on our experience as humans.

Matthew Wolfmeyer, PhD, professor of anthropology at UCSC, used the term "multibiologism" to indicate that pathology can be seen as a form of human variation. There are three kinds of bodies, he says: those that need no intervention of social, legal, or medical support to enable a livable life, those that do need such intervention (such as a quadriplegic or someone with severe Alzheimer's), and those that could have such intervention (anyone from hyperactive kids or insomniacs to those with PTSD or arthritis). American society currently divides this spectrum such that the "no intervention" category is becoming empty and the "could have intervention" category is growing by leaps and bounds. Despite what he calls our "cure ideology" from our Judeo-Christian heritage, the pathologies we recognize are increasingly incurable, whether it be gluten sensitivity or chronic cancer, and must be treated with ongoing therapies.

Kelly Ormond, MS, professor of genetics at Stanford, provides genetic counseling and helps people think about these issues every day. She helps expectant parents face the grueling task of deciding what it means to have a baby who might be labeled disabled, pathological, or normal -- how would such a child fit into their life, and are they able and willing to accommodate that? Do they even want the information that genetic tests can offer? When counseling parents, Ormond tries to emphasize the lived experience of a condition instead of its medical aspects. Medical information tends to categorize and stir up preconceived notions, but in everyday life the significance of such designations is more fluid, she said.

Janette Dinishak, PhD, professor of philosophy at UCSC, studies autism. She wants to reframe society's understanding of people with autism such that those without autism are the ones who are limited.

Think about the somewhat standard definition of autism, she offered: "The absence of the ability to attribute mental states to other minds: mind blindness." This is a difference being interpreted as a deficit, a lack of a feature, trait, or capacity. But are blonds deficient in red hair? Are humans deficient horses because we lack four legs? Difference doesn't necessarily mean pathology, she said.

One of the most powerful ways to shape perceptions of pathology is through language, which works in subtle ways. Wolfmeyer said he prefers the term "disorderly" to "disabled," especially for kids. Ormond said she tries to say "atypical psychology" instead of "abnormal psychology," and "condition" instead of "disorder."

In the genetics field, it's more common to hear "diagnosis" when genes show a particular variant instead of the more accurate term "risk assessment," Ormond said. Genetics is not as deterministic as we think, she said; having predictive tests doesn't mean we should make predictions and allow our biology to determine our fate. A big problem, she said, is the media, which quickly resorts to using shorthand: "the gene that is linked to a higher chance of having condition x" becomes "the x gene."

In addition to being careful about language, individuals can be creative in our collective approach to difference. Wolfmeyer works with sleep centers and sees a big difference in how Chicago and the Twin Cities handle children who naturally have a very early or a very late sleep biorhythm ("larks" and "owls"). Chicago institutions seek to medicate late-rising children so they can participate in normal school activities, he said, whereas in the Twin Cities medication is recognized as unsustainable and experts advise parents to find the school with the latest possible start time, and make adjustments so their child can attend it.

This method of approaching difference has the happy result of the child feeling less pathologized, while recognizing there are many types of "normal kids."

Previously: A conversation with autism activist and animal behavior expert Temple Grandin, Genome testing for children: What parents should consider, Studying the humanities to address "the messiness of human life", Is more always better? Stanford's Greely and Ormond talk genetic disclosure on Science Friday, and Stanford students discuss studying their own genotypes
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