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Genetic Testing's Beginnings

Tay-Sachs disease jump-started the genetic disease testing field, but testing for that disease brought up fewer ethical questions than newer tests now are, writes Alexandra Ossola at Nautilus.

Tay-Sachs is a rare, recessive disease that's more common among people of Ashkenazi Jewish descent. It, Ossola writes, leads to seizures, developmental delay, weakened muscles, and early death, and there is no cure. "Because Tay-Sachs was more frequent in a specific population and was so objectively severe, it was a good first candidate to be addressed through widespread genetic testing," she says.

Still, medical ethicists were concerned about stigmatizing people of Ashkenazi Jewish descent as well as whether people would pursue late-term abortions.

By working with community leaders and physicians serving Jewish communities, first in the DC-Baltimore area and later in other cities, Michael Kaback, then at Johns Hopkins Medical Center, and his colleagues introduced voluntary carrier screening at synagogues and community centers. After receiving their results, people who were disease carriers were then met with genetic counselors to learn about their results and reproductive options.

"The idea was knowledge — if people had it and could communicate it, they would make decisions in their best interest," Kaback tells Ossola. 

But for newer genetic screens of disease, Ossola writes that it's not as clear-cut. Many of these genes influence disease risk and people with these variants still could live long lives.

"From a technology standpoint, we can screen for 150 conditions. But at what point do we decide what conditions we should be screening for because of the severity of the implications?" asks the University of Texas' Jennifer Hoskovec.

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