Fathoming Huntington’S Disease, Genetic Testing As Well As The Biotechnological Era Inward An Academic Setting

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

At the same time, testing positive for a genetic disorder tin potentially supply an private with sufficient advance alert to enable informed decisions regarding planning a family, finances, insurance coverage, career, as well as other cardinal matters.

I’ve reflected oft on the perils, benefits, as well as ethical challenges of genetic testing. In fewer than v years, my identify unit of measurement faced iii tests: my mother’s positive exam (and diagnosis) for hard disk inward 1995, my positive exam inward 1999, as well as our daughter’s negative exam inward the womb inward 2000. I conduct maintain discussed genetic testing inward many articles inward this weblog every bit good every bit inward the nearly dozen speeches I conduct maintain made on hard disk inward the past times iv years.

I prepared practically all of these written as well as oral accounts for audiences mainly familiar with hard disk as well as the issues surrounding genetic testing. Testing was e'er only i topic with many covered.

As poignant every bit ever

Recently I was prompted to ponder genetic testing again, but inward a dissimilar format as well as setting. At the invitation of Nazin Sedehi, a senior at the University of San Diego (USD), I participated inward a video on hard disk as well as my family’s experiences with genetic testing.

After exiting the “HD closet” inward like shooting fish in a barrel 2012 with the publication of an article inward The Chronicle of Higher Education, USD placed a feature story as well as photos of me as well as my identify unit of measurement on its website.

Now, at Sedehi’s behest, I did an interview for 2 websites aimed at helping a full general audience explore the dilemmas of genetic testing as well as other bioethical challenges.

Sedehi conducted the interview with the make goodness of her studies every bit a pre-med interdisciplinary humanities major. I was distinctly the subject of Sedehi’s research. The interview had a decidedly academic purpose inward the broadest, most positive sense of the word: gathering, reflecting upon, as well as disseminating critical knowledge.

For the outset fourth dimension inward an oral presentation, I focused almost solely on genetic testing.

Despite having touched often on this topic, it felt every bit poignant every bit ever to reverberate on it again.

‘You can’t kill the gene’

I met Sedehi afterwards reaching out to her as well as others at USD who finally twelvemonth set upward a novel student-designed website called Genetics Generation. The site aims to supply impartial data almost genetics-based technologies as well as engage the full general world regarding genetics as well as ethics.

The interview took identify inward my role at USD, where I conduct maintain taught since 1993 as well as chaired the Department of History since 2009. Sedehi produced the video for an independent written report supervised past times Laura Rivard, Ph.D., an adjunct professor inward the USD Department of Biology, with the purpose of generating content for the student-run site as well as medico Rivard’s Genetics Generation blog at Nature Education’s Scitable online teaching/learning portal.

“You know, you lot can’t only extirpate this thing from your body,” I nation at the start of the video, underscoring the genetic nature of HD. “It’s non similar a virus that you lot tin promise goes away with fourth dimension if you lot accept about orangish juice, as well as the mutual depression temperature virus goes away. It’s non similar a bacteria, which you lot tin process with an antibiotic.”

I speak every bit the juxtaposed images of a normal encephalon as well as a shrunken hard disk encephalon fill upward the screen.

A scene from the video comparison a normal with an HD-affected brain

“It’s non fifty-fifty similar cancer,” I continue. “In cancer there’s chemotherapy, there’s radiation. You tin kill the cancer cells. But you lot can’t kill the huntingtin gene.”

Sedehi cuts to my response to the query almost my argue for getting tested. I explicate that I wanted to acquire tested “immediately” afterwards learning of my mother’s diagnosis. However, on the advice of people familiar with the social risks of genetic testing, I postponed my decision.

Ultimately, I decided to acquire tested.

“It would endure a agency for me to struggle back,” I declare. “Knowledge is power, as well as having that cognition would enable me to aid for myself inward the best agency possible, every bit a agency to avoid the symptoms of the disease.”

Our most hard experience

Then the interview tackles the most hard number my married adult woman as well as I faced: the testing of our daughter.

“We knew that because I had tested positive for the disease, the potential kid had a 50-50 conduct chances of inheriting the mutation,” I say. “We also knew that when a manful mortal bring upward passes on the disease, he inward about instances tin overstep it on inward a far worse form. She was tested inward the womb.”

I depository fiscal establishment annotation that this was earlier the arrival of preimplantation genetic diagnosis, which couples today utilization to covert embryos for the hard disk mutation.

“The happiest 24-hour interval of our lives was learning that she had tested negative for the Huntington’s illness mutation,” I state, adding, however, that the “entire sense was surely i of the most difficult, if non the most difficult, sense my married adult woman as well as I went through together.”

No regrets, but a changed life

When Sedehi asks if I ever wishing I hadn’t been tested, I reply that I conduct maintain no regrets. I fantasize almost a handling that would complimentary me as well as the residual of the community from the scourge of HD.

At the same time, I recognize that hard disk has profoundly changed my family’s life.

“Life’s non only almost Huntington’s disease, but it actually did modify the agency nosotros looked at life,” I recall. “It changed the agency nosotros intend almost money, almost career, almost whether nosotros should move, almost the number of children nosotros should have, whether nosotros tin purchase a retirement abode inward South America. … It actually made us much to a greater extent than cautious inward planning for the future.”

Sedehi wants to know what comes to heed when I listen the words “Huntington’s disease.” I reply instantly: my woman bring upward as well as her utter dependence on my manful mortal bring upward as well as other caregivers.

Families of hard disk people witness 2 deaths, I add.

“The outset decease is when the mortal loses a large component division of his or her personality, as well as cannot verbalize whatsoever more, cannot communicate,” I explain. “It’s every bit if you’ve lost that mortal already. The minute decease is when they croak the physical, terminal death.”

Germinating beneficial ideas

You tin read Sedehi as well as medico Rivard’s introduction, picket the video, as well as participate inward an online word past times clicking here. You tin also picket the video below.

Huntington's Disease Interview with medico Kenneth Serbin from Know Genetics on Vimeo.

The connections to Sedehi as well as medico Rivard mesh with my hard disk advocacy as well as the concomitant expansion of my scholarly inquiry into the history of science, technology, as well as medicine (click here to read more).

Through our articulation efforts, nosotros tin assist heighten awareness almost the hard challenges, every bit good every bit the neat potential for medical breakthroughs, of the biotechnological era.

Our collaboration reflects the tendency towards what academics mention to every bit “interdisciplinary” inquiry as well as teaching, where professors from seemingly disparate fields puddle cognition as well as differing perspectives to empathize problems.

Dr. Laura Rivard (photo from Genetics Generation website)

(In a similar vein, on Apr 3 USD sponsored a well-attended interdisciplinary panel word on ethics as well as genetic testing, with a focus on the highly controversial direct-to-consumer genetic testing service 23andMe. medico Rivard organized the event. I programme to write to a greater extent than almost it inward a hereafter article.)

Ultimately, the interdisciplinary approach tin as well as should seek to solve problems – inward this case, the dilemmas of genetic testing as well as the dire demand for treatments for neurological disorders that strain millions of families as well as the nation’s caregiving system.

medico Rivard’s efforts embody the capacity of academic institutions to instruct as well as reflect. Though about criticize higher pedagogy as well as peculiarly the liberal arts for their purported ineffectiveness inward preparing immature people for the workplace as well as life, nosotros should recollect that the germination of ideas inward universities produces numerous benefits for society.

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