When I was pregnant, my husband and I were convinced that karma was going to bite us in the ass. Back in his school days, my husband teased a kid with a lazy eye. That kid later turned out to be my cousin, and that lazy eye was inherited from my great grandfather, who also passed it on to my grandfather, a couple of uncles and cousins, and my brother. The lazy eye tends to run in the boys in my family, which is why we had a moment of panic when we found out we were having a boy.
We also both had red hair as kids. It’s not hard to put the genetic pieces together and come up with an image of a pasty ginger kid with a lazy eye.
Everything turned out fine. So far, there are no signs of red hair, freckles, or a lazy eye. I’ve since met a ginger kid with a lazy eye and she was actually quite cute.
Genetic testing for preventative care
Having access to genetic information is no longer just a novelty. It’s now a critical preventative healthcare tool for individuals and families.
Genetic testing has been available in certain formats for years. Virtually every pregnant woman is encouraged to undergo genetic testing to find out if she’s a carrier for certain genetic diseases. Amniocentesis and chorionic villus sampling can diagnose chromosomal abnormalities in a fetus, such as Down syndrome, Fragile X, and neural tube defects like spina bifida.
In recent years, 23andMe has been at the forefront of the genetic testing conversation for its efforts to bring genome decoding to the average consumer. The company allows anyone to purchase a personal genome kit, submit a saliva sample, and get a full read-out of their genetic data within two months. Launched in 2006, the company has collected over 100 million phenotypic data points to date, and says that 85% of its customers consent to having their data accessed for research.
“I loved the science but there was a big disconnect between what I wanted as a consumer and what was being delivered,” said 23andMe co-founder and CEO Anne Wojcicki, in an interview. “Preventative care wasn’t part of it.”
There has been a lot of controversy surrounding the idea of a retail service for genetic testing. One of the big worries was that health insurance providers would use the information to reject or charge higher premiums to certain people based on a genetic predisposition to developing a disorder or disease, or that employers would use genetic information in hiring and firing decisions.
Such concerns led to the passage of GINA—the Genetic Information Nondiscrimination Act—in 2008.
The fears are valid, but slippery-slope arguments fail to address the needs of families. While 23andMe is credited with giving individuals access to their own genetic information, the service is also proving to be a critical preventative care tool for parents.
Genetic healthcare for families
Women make 80% of all healthcare decisions for their families, and they’re more likely to be the caregiver when a family member falls ill. Fully 79% of women are solely responsible for selecting a child’s doctor, according to the Kaiser Women’s Health Survey. Some 84% shoulder the responsibility for taking children to and from doctor’s appointments, while 78% ensure a child gets recommended care.
But navigating the world of health and disease prevention is stressful at best and nerve-wracking at worst, starting with the many “dos” and “don’ts” of pregnancy. It doesn’t help that medical advice can be completely contradictory and/or counterintuitive.
Fully 35% of U.S. adults have gone online with the express purpose of self-diagnosing a condition or determining if someone they know has a condition, according to a recent Pew report. Some 59% of U.S. adults have gone online to look for health information in general in the past year.
And while most people still turn to health professionals for information, advances in social media and mobile technology has led to a growing number of people turning to friends and family for help. Some 55% of U.S. adults said that they have asked friends and family for information, according to another Pew study.
“Healthcare is often more of an art rather than a science,” said Wojcicki. “You have this environmental component. How can your environment be altered to modify what the deck of cards gives you?”
The benefits of having access to genetic information are very real. Wojcicki, for example, learned that some of her nieces and nephews have an increased risk for macular degeneration, so she makes sure that her children wear sunglasses.
In the case of 23andMe’s Public Relations Manager Catherine Afarian, she and her husband submitted their samples and learned that any children they had together would have a 50% chance of being lactose intolerant. Having that information meant she was able to watch for the signs and symptoms of an intolerance, rather than playing the allergen guessing game that so many parents are forced to endure. If she hadn’t known about the likelihood of a lactose intolerance, she could have been just one more parent struggling to soothe a colicky baby.
There are also more serious health concerns that 23andMe uncovers.
Afarian also found out she was half Ashkenazi Jewish, which came as a surprise since she had always been told she was half Italian. Because she didn’t know she was part of an at-risk population for genetic disorders like Tay-Sachs, her obstetrician hadn’t tested her. But her report from 23andMe, as well as her husband’s report, showed that neither was a carrier.
What the future holds
Wojcicki says that 23andMe is currently working on an autism program and is interviewing parents. With one in every 88 children now receiving an ASD (autism spectrum disorder) diagnosis, autism has reached epidemic proportions, but there is still little understanding of treatments or therapies. A number of parents are turning to treatments and lifestyle changes that have little research behind them, including gluten-free/casein-free diets, chelation, hyperbaric oxygen therapy, and so on.
“There’s no standard of care,” said Wojcicki. “Parents are doing all these things because they have no idea. There’s so much data.”
Unearthing the genetic roots of autism is a lofty goal, but we have to start somewhere. In the meantime, 23andMe will keep doing what it does best: giving parents the tools to keep their families healthy.