Now the bar is getting lower. A new regulatory structure announced in November by the F.D.A.’s commissioner, Scott Gottlieb, will allow 23andMe and other vetted providers to introduce some tests for health risks without premarket review. This change is expected to usher in a rapid expansion of the consumer genetics industry.
And however limited the rules are for direct-to-consumer genetic testing, they are downright draconian in comparison with the free-for-all world of third-party interpretive services like Promethease, which bills itself as a “literature retrieval system,” with no responsibility for the testing or results themselves.
At first Mr. Fender tried to just believe that the Ancestry results were true and that the 23andMe finding was a mistake. It seemed more probable; the PSEN1 variant linked to early-onset Alzheimer’s, he learned, is usually inherited, and Mr. Fender’s parents are in their 60s and healthy. If he was wrong, he wasn’t sure he wanted to know. But he found the lingering doubts disquieting, and eventually persuaded his doctor to order a clinical test of the PSEN1 gene. It was negative.
Mr. Fender, relentlessly upbeat, expresses gratitude for the experience. “It was very motivating,” he says, citing how he has improved his diet and learned to cook. It gave him empathy for people suffering from dementia, and he is thinking about developing an app using voice-activated personal assistants like Siri and Alexa.
“People with Alzheimer’s lose track of what they are doing and may empty every drawer in the kitchen because they don’t remember that they are looking for their keys. Alexa could ask them what they’re planning to do and then give them reminders.”
He pauses, and it is suddenly easy to imagine what it has been like, spending every day for months picturing a future with dementia. “Like, how’s it going looking for your keys, Matt?” he adds.
His story, as bad as it was, could have been much worse. He had both the temperament and the skill to gather crucial information in a relatively short time. A person with fewer resources or different inclinations might have lived for years under that cloud, waiting to get sick.