Personal genomics company 23andMe has officially resumed a service that tells curious customers what lurks in their DNA, including some inheritable diseases.
The move comes nearly two years after the US Food and Drug Administration (FDA) sent 23andMe a strongly worded warning letter, effectively shutting down the health-related aspects of the company's popular DNA reports.
After working closely with the FDA, however, 23andMe is again offering health information. The company and its CEO are billing the rebooted genetic testing service, announced Wednesday, Oct. 21, as "a totally new experience."
It's a major turnaround from where the tech startup was in November 2013.
Back then, the FDA noted 23andMe was providing "health reports on 254 diseases and conditions." Those included genetic risk assessments for complex, serious diseases like breast cancer and diabetes. After many conversations and meetings with 23andMe, an FDA deputy commissioner wrote, "we still do not have any assurance that the firm has analytically or clinically validated the [Personal Genome Service] for its intended uses."
The new offerings from 23andMe, which cost $199 (twice the price of its old test) are significantly more limited — and regulated. No one will learn about a very serious disease or the risk of one from these results, lowering the stakes considerably.
But there are 60 pieces of information in each report, including details about a customer's carrier status for certain diseases, a profile of some hereditary traits (e.g. "back hair" and "sweet taste preference"), and limited information about dozens of non-life-threatening health conditions like lactose intolerance. (See the full list below).
"It's a totally different type of report," 23andMe CEO and biologist Anne Wojcicki told Tech Insider Tuesday night, hours before the announcement went public. "We've established an infrastructure with the FDA, where we know that people understand it. We have comprehension levels of over 90%. We're confident people from all educational backgrounds can understand this information." As a result of collaborating with the FDA, Wojcicki said in a statement, "we are a better company with a better product."
Already, in February 2015, the FDA signaled that they were coming around on the company. That's when the agency approved a 23andMe test that could show whether someone was a carrier for a rare genetic disorder called Bloom syndrome.
At the same time, the FDA reclassified the carrier tests for similar genetic diseases so that companies marketing them did not need to seek review before doing so. The move "supports innovation and will ultimately benefit consumers," an FDA official said at the time, in a statement.
Getting knocked down by the FDA wasn't easy, says Wojcicki — especially since 23andMe now has to meet much more rigorous standards normally applied to medical devices. But she believes 23andMe's reincarnation has put the entire tech industry in a better place.
"The FDA has made a spectacular effort in the last year to understand Silicon Valley" while also helping health startups meet regulations, she says. "Part of what I see as my role now, as being known in the industry for 'the smackdown,' is helping other companies understand what that process looks like and having realistic expectations."
Still, 23andMe's rebooted service doesn't yet offer its former, more complete dump of health information hidden in a customer's DNA. And that pains Wojcicki.
"I'd be very disappointed if I could not at some point get there," she says.
Not everyone is sold on the idea though. As Davey Alba wrote in Wired, even when 23andMe couldn't offer its signature health reports, it still held onto "one of its most valuable assets" — its customers' genetic data. That's led to some concerns about privacy. "The Personal Genome Service isn't primarily intended to be a medical device," Charles Seife argued in Scientific American. "It is a mechanism meant to be a front end for a massive information-gathering operation against an unwitting public."
Wojcicki rejects these criticisms. She says about 80% of customers volunteer to participate in research and share their anonymized genomic data with researchers, including several pharma giants, and that the company has always been "extremely transparent" about this. Such partnerships have the potential to lead to some compelling information about diseases, and even possibly some new treatments.
"If 5,000 people with chronic fatigue syndrome say, 'screw it, we don't just want to wait around for treatment anymore,'" Wojcicki says, "well, then they actually have the power to come together and generate data together and use that in analyses and actually start to learn form each other."
With the relaunch of its genetic reports — which expand significantly on the ancestry information provided by other companies — 23andMe sets itself apart from the crowd, once again directly offering consumers something they can't get anywhere else.
And the reverse is true, too: 23andMe has troves of unprecedented genomic data.
"We are not a profitable company. We are doing deals because we feel it's the right thing to do to make a difference in the research world," Wojcicki says. "We are trying to show that there can be a consumer-driven research model that rivals — and potentially could be even be better than — the existing, academic-led, government-funded research model."
Here's the full list of what's in the new reports:
Carrier Status (36)
ARSACS
Agenesis of the Corpus Callosum with Peripheral Neuropathy
Autosomal Recessive Polycystic Kidney Disease
Beta Thalassemia and Related Hemoglobinopathies
Bloom Syndrome
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
Cystic Fibrosis
D-Bifunctional Protein Deficiency
Dihydrolipoamide Dehydrogenase Deficiency
Familial Dysautonomia
Fanconi Anemia Group C
GRACILE Syndrome
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Hereditary Fructose Intolerance
Leigh Syndrome, French Canadian Type
Limb-Girdle Muscular Dystrophy Type 2D
Limb-Girdle Muscular Dystrophy Type 2E
Limb-Girdle Muscular Dystrophy Type 2I
MCAD Deficiency
Maple Syrup Urine Disease Type 1B
Neuronal Ceroid Lipofuscinosis (CLN5-Related)
Neuronal Ceroid Lipofuscinosis (PPT1-Related)
Niemann-Pick Disease Type A
Nijmegen Breakage Syndrome
Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
Pendred Syndrome and DFNB4 Hearing Loss
Primary Hyperoxaluria Type 2
Rhizomelic Chondrodysplasia Punctata Type 1
Sickle Cell Anemia
Sjögren-Larsson Syndrome
Tay-Sachs Disease
Tyrosinemia Type I
Usher Syndrome Type 1F
Usher Syndrome Type 3A
Zellweger Syndrome Spectrum (PEX1-Related)
Wellness (4)
Caffeine Consumption
Lactose Intolerance
Alcohol Flush Reaction
Muscle Composition
Traits (22)
Asparagus Odor Detection
Back Hair (available for men only)
Bald Spot (available for men only)
Bitter Taste Perception
Cheek Dimples
Cleft Chin
Earlobe Type
Earwax Type
Eye Color
Finger Length Ratio
Freckles
Hair Curliness
Light or Dark Hair
Male Hair Loss (available for men only)
Newborn Hair Amount
Photic Sneeze Reflex
Red Hair
Skin Pigmentation
Sweet Taste Preference
Toe Length Ratio
Unibrow
Widow's Peak
Ancestry (3)
Ancestry Composition
Haplogroups
Neanderthal Ancestry
