It's 2020, and detailed genetic testing is now affordable for the average family. Your three year old is displaying signs of a mysterious neurological illness that doctors can't explain. At a loss for a solution, they suggest sequencing your baby's entire genome—instead of looking at one specific gene, which doctors can already do with relative ease—so they can investigate. Exasperated but hopeful, you agree.
While poring through the immense dataset provided by your child's genome to find a cause for your child's illness, the doctors notice something unsettling, but unrelated: a genetic mutation predisposing your child to cancer. Even though it's not the information you were looking for, it could be important to know. Would you want the doctors to tell you about it? Are they obligated to?
According to a new paper from the American Society for Human Genetics (ASHG) on the ethics of genetic testing in children—their first since 1995—one of the most important questions facing geneticists today is how to control access to the wealth of information an entire genome provides when a full sequence costs just $1,000. At issue are "secondary findings," when genes tell you more than what you wanted to know.
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"First of all, the family should have a choice about whether or not they want to see this information," Jeffrey Botkin, a professor of human genetics at the University of Utah and lead author of the report, told me in an interview. "Secondly, if you can analyze the sequenced data in such a way that you're just targeting certain areas of interest, and not targeting other areas, that's acceptable."
There's a sense among geneticists that having access to a full genome means that you should analyze as much of it as you can, looking for mutations and variants, Botkin said. He and the other ASHG researchers who wrote the paper disagree. But, Botkin said, if doctors do come across a secondary finding by chance, they have a duty to report it to the child's parents if it's clinically valid. That is, if it has real and immediate implications for the health of the child or the parent.
"We think [revealing secondary findings] would be appropriate if the parents want that information to begin with," Botkin said. In the case of a predisposition to cancer, he said, "If one of the parents is a carrier too, they should get testing themselves because it might be important to their health care."
"A large number of genetic findings at this point are not that predictive"
Genetic testing is a particularly fraught area of research at the moment. Misunderstandings about what particular genes might govern abound in both the press, and among some scientists. Last year, the Uzbekistani government's plan to screen children for genetic predispositions to certain sports was panned by scientists because the relationship between genetics and behaviour is more complex than "this gene here means you can kick a soccer ball really far."
This is the question of clinical validity, and it points to a wider issue in gene science. Recent studies have suggested that genes can indicate that everything from your propensity for voting, cheating on your spouse, and how altruistic you are. While the genetic indicators of cancer predispositions are well-established, these kinds of gene studies are more controversial.
"A large number of genetic findings at this point are not that predictive," Botkin said. "That makes them important to pursue for research purpose, but not helpful in the clinical context. Particularly in this sort of situation, if someone has some association with addiction, that is exactly the sort of thing that you don't want to disclose to family about a child. For one, it could just be wrong."