The Pros and Cons of Genetic Testing

Pregnant woman

The July 8, 2015, Arstechnica.com article “Misunderstanding the genome: A (polite) rant:
Discussing DNA is difficult” by Ars Technica staffer and genomics expert Jonathan M. Gitlin is very relevant to the genetic issues in my sci fi novel THE MOTHER SIEGE, which takes place in 2049. (See http://budurl.com/MSintro)

The article states:

Every year, about four million babies are born in the US, and almost all of them will be tested for 30 to 50 serious-but-treatable diseases, depending on the state they are born in. What also depends on the state is whether or not families can opt out of newborn screening. In most states, this is either not possible at all or only possible in cases of strong religious conviction.

For Natalie, the mother protagonist in THE MOTHER SIEGE who fakes the death of one of her newborn children, this is perhaps the most relevant paragraph in the article:

Genes aren’t destiny: Here we get to another misconception: screening tests and diagnostic tests are not the same. Genetic (or genomic, where multiple genes are analyzed) screening tests don’t always tell you if someone has a disease. Rather, they’re typically probabilistic—they tell you if you’ve got a greater chance of a problem than the average person. Even an increased risk compared to the general population is still just that: a risk.

In the dystopian world of THE MOTHER SIEGE, if an unborn child’s potential genetic risks are not diagnosable in vitro and are found only upon testing at birth, that child is immediately “eliminated” to save possible future medical costs. (If the potential genetic risks are diagnosed in vitro, that pregnancy is mandated by the government to be immediately terminated.)

Yet, as this article explains, screening tests and diagnostic tests are not the same. And then there is this problem:

Tests are not infallible: Hand in hand with the fact that screening isn’t diagnosis goes the fact that tests are not 100 percent specific (not all positive results are true) nor 100 percent sensitive (not all negative results are true). False negative results—telling someone they’re low-risk when they’re not—is immediately obvious as a problem. But false positives are harmful, too, particularly if a positive result leads to an invasive biopsy or a drug therapy (and that’s not considering psychosocial harms, which are real).

Here is the link to read the entire Ars Technica article — http://arstechnica.com/staff/2015/07/misunderstanding-the-genome-a-polite-rant/

P.S. And do read THE MOTHER SIEGE for free on Wattpad at http://budurl.com/MSintro if you are interested in a sci fi story about genetic testing taken to extremes.

© 2015 Miller Mosaic LLC

Phyllis Zimbler Miller (@ZimblerMiller) has an M.B.A. from The Wharton School and is the author of fiction and nonfiction books/ebooks, including HOW TO SUCCEED IN HIGH SCHOOL AND PREP FOR COLLEGE and the romantic suspense spy thriller CIA FALL GUY, as well as newly written books not yet published. She can be reached at pzmiller@gmail.com