Fathoming Huntington’s disease, genetic testing and the biotechnological era in an academic setting

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Fathoming Huntington’s disease, genetic testing and the biotechnological era in an academic setting

The decision to undergo genetic testing for an inherited, untreatable disease carries the risk of a devastating, life-transforming result. We in the Huntington’s disease community know all too well the medical and social consequences of carrying the genetic mutation for this neurological condition, which produces uncontrollable movements, dementia, and mood and psychiatric disorders. 

At the same time, testing positive for a genetic disorder can potentially provide an individual with sufficient advance warning to enable informed decisions regarding planning a family, finances, insurance coverage, career, and other key matters.
I’ve reflected frequently on the perils, benefits, and ethical challenges of genetic testing. In fewer than five years, my family faced three tests: my mother’s positive test (and diagnosis) for HD in 1995, my positive test in 1999, and our daughter’s negative test in the womb in 2000. I have discussed genetic testing in many articles in this blog as well as in the nearly dozen speeches I have made on HD in the past four years.
I prepared practically all of these written and oral accounts for audiences mainly familiar with HD and the issues surrounding genetic testing. Testing was always just one topic among many covered.
As poignant as ever
Recently I was prompted to ponder genetic testing again, but in a different format and setting. At the invitation of Nazin Sedehi, a senior at theUniversity of San Diego (USD), I participated in a video on HD and my family’s experiences with genetic testing.
After exiting the “HD closet” in late 2012 with the publication of an article in The Chronicle of Higher Education, USD placed a feature story and photos of me and my family on its website.
Now, at Sedehi’s behest, I did an interview for two websites aimed at helping a general audience explore the dilemmas of genetic testing and other bioethical challenges.
Sedehi conducted the interview with the benefit of her studies as a pre-med interdisciplinary humanities major. I was distinctly the subject of Sedehi’s research. The interview had a decidedly academic purpose in the broadest, most positive sense of the word: gathering, reflecting upon, and disseminating critical knowledge.
For the first time in an oral presentation, I focused almost exclusively on genetic testing.
Despite having touched often on this topic, it felt as poignant as ever to reflect on it again.
‘You can’t kill the gene’
I met Sedehi after reaching out to her and others at USD who last year set up a new student-designed website called Genetics Generation. The siteaims to provide impartial information about genetics-based technologies and engage the general public regarding genetics and ethics.
The interview took place in my office at USD, where I have taught since 1993 and chaired the Department of History since 2009. Sedehi produced the video for an independent study supervised by Laura Rivard, Ph.D., an adjunct professor in the USD Department of Biology, with the purpose of generating content for the student-run site and Dr. Rivard’s Genetics Generation blog at Nature Education’s Scitable online teaching/learning portal.
“You know, you can’t just extirpate this thing from your body,” I state at the start of the video, underscoring the genetic nature of HD. “It’s not like a virus that you can hope goes away with time if you take some orange juice, and the cold virus goes away. It’s not like a bacteria, which you can treat with an antibiotic.”
I speak as the juxtaposed images of a normal brain and a shrunken HD brain fill the screen.

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