The Future of Genetics in Our Everyday Lives (Unedited Notes)

This talk was by Anne Wojcicki, Founder of 23andMe, an online service that provides people with a personal DNA / genetic analysis from a mouth swab the user submits. It’s an interesting service, and you can potentially learn a lot about your genetic history. Let’s see what she has to say.

Healthcare Profiting from Disease

Talking about how disease and obesity in particular are highly beneficial for the companies that treat disease including medical devices, drug companies, etc. Money is getting pumped into the research for things like Type II Diabetes (like $1.5-2b), but the fact is that this particular disease is preventable.

Who makes money off me NOT getting sick?

If you’re on a birth control pill and have a Factor 5 genetic something or other you are more likely to have blood clots, but they don’t test for that. It’s better for the healthcare system to treat the problem than it is to prevent it. We’re spending $2.7 Trillion in Health Care Expenses.. healthcare companies are actually making money through their inefficiencies.

Enter 23andMe

What they believe:

  • Prevention is better than treatment
  • Genetic information is the basis for personalized medicine
  • Knowing your genetic health risks will help you make better decisions
  • Big data will improve your health and accelerate research discoveries
  • Everyone has the right to access and understand their personal genetic information

How it works: Order a kit, spit in it, send it back to them, and they’ll send you the data.

What can you learn from your DNA?

  • Medication Response: There is a long list of medications that have a known drug response, you can see what reactions you might be at risk of.
  • Disease Risks: What diseases are you more susceptible to?
  • Inherited Conditions: What conditions are you predisposed to? BRCA gene for breast cancer?
  • Interesting Traits: Does your urine smell after eating asparagus? It’s a genetic trait.
  • Ancestry: We’ll come back to that.

Academic Opinions about 23andMe and how we should be using it…

We’re debating it here in the US, while other countries are actually already doing a lot with genetics. Genetics is becoming much more inexpensive and will become much more involved in your daily life.

And now a video… Some folks on Skype discussing their experience with receiving the results of their genetic testing.

Testimonials

Kristen Whitaker had stomach problems, and her daughter also had problems. Found out through 23andMe that they were pre-disposed to celiac disease. She got tested by her doctor and it turned out they were positive. Now they can treat appropriately.

Pseudocholinesterase Deficiency was known from another person’s report, and she brought the report with her to have her wisdom teeth removed. She knew that the anaesthesia would knock her out for hours, so they were able to use something different.

Greg Parkeh’s son didn’t want to eat any kinds of ice cream, etc. and found out that he was pre-disposed to a fructose intolerance. He had his kid tested for it and sure enough he was positive. He was able to change his diet in order to treat it starting at a much younger age than most people would normally know they have the disorder.

Professor Jonathan Zittrain found out he was a carrier for Factor 5. He was suffering from night sweats and pain. Went to the doctor and found out he had a giant mass on his liver. The doctors thought it was cancer, but bc he knew he was a Factor 5 carrier, they tested for a blood clot and that’s what it was.

Jennifer Goldstein found out she was BRCA positive, partnered with her physician, and they decided it was in her best interest to take preventative measures to perform a double mastectomy and remove her ovaries.

All of this opens the dialogue between patients and doctors to find out what people can do to make changes based on the information provided by their genetic testing results.

Finding your Roots

A lot of people are interested in finding out where they’re from genetically. People find out that they’re jewish or native american, etc. You can also find out where you fit into the genetic evolutionary history. It’s cool to see how your DNA or your kids’ DNA might have developed.

You may actually find relatives through 23andMe, even first degree family members. Because of the size of their database, these stories are becoming more and more frequent.

23andMe Research

Target(TM) figured out that a girl was pregnant before her father found out. Target (and Amazon) has enough data about what people are buying that they can predict things like this. With the 23andMe, they ask that people complete surveys since there’s still so much research to be done with genetic testing. They’re trying to help provide even more data to assist with that research.

Now a video about research… because of the large scale of 23andMe, they are able to do a broad test with a large sample, etc, etc.

Purpose of Research

  • Is there a genetic basis for the disease?
  • Do certain therapies work better in some people versus others?
  • Can we help develop new therapies?

Study of PCSK9, healthy fertile woman came in and she had 2 copies of this gene which led to very low LDL levels. This led to research being developed for 5 new drugs to help treat this.

2 ways that they do research: GWAS: look at the disease and see if there are genes associated with that disease and  PheWAS: pretty much works the other way.

We only know a fraction of what the genome actually means, so they use these research methods to find out how that plays out through surveys. A family wants to find out if a certain gene variant could be causing cancer. 23andMe sent out a survey to people with that gene variant to ask.. do you have cancer? and they determined that that gene was likely NOT the cause of their family’s genetic pre-disposition to colon cancer.

23andMe Research Accelerator is opening up the data to researchers all over the world. They’re able to perform real-time research.

The Future: Consumerization of Healthcare

People can take control of their healthcare. Blue Button Connector.. you can download your medical record? You can get your own lab results now also directly without needing a doctor. Healthcare pricing was also considered “a competitive secret” which isn’t allowed anymore(?).

With all this data, how can we all be healthy at 100? Own your data.

Now for a Q&A…

FDA.. where are you with the FDA situation? FDA considers 23andMe to be a medical device, so they have to apply for different permissions, etc.

23andMe right now focuses on snips of your gene, but as technology becomes more standardized and reliable to consumers they’ll be able to expand. For instance, they’d like to move into microbiology testing.. why do some people have no cavities?

Is it a problem to have too much information? Is it ok for big companies to have access to this data? She feels it’s better for the consumer to own the data. Whoever pays for the data is the owner, so if your insurance company pays for it, they own it. Privacy and sharing could have unintended consequences in a way that sharing something like a pair of shoes you bought wouldn’t have. They’re finding that people are willing to take the risk because of the benefit to their health.

Shouldn’t you be paying us for our genetic data? Well, if you don’t want to participate in the research, that’s your decision. It helps build a database of knowledge though that can help other people down the line and that’s why most people agree to share the data. There’s no way to monetize a single genome, it’s the aggregate data that’s worthwhile so it’s not that an individual is being singled out, it’s just a benefit to the group.

How accurate is it? 99.99% reproducibility in the snip that they’re actually testing in your genome, but the variant is more about the correlations with disease risk, etc. They’re still learning about that information so the risk percentages may not be as accurate, or there may be some variation in data from different sources based on your genome whether those are accurate. They’re at least giving you the raw data, so you could theoretically take that raw data and have it analyzed by another company if you want.

Where do you imagine your business going? Are you worried for it? What does it evolve to? The potential for 23andMe is to change the approach to medicine and to research. Wants to see a society where the people are more actively managing their own data and health. This can help to make the research move faster and more efficiently.

They try to remain transparent with the process, and allow people to shut down their account and take their data at any time. They want to protect their users’ privacy, so they tell people everything that they’re doing with their data for research purposes. People are generally happy to participate in their experience—if they send out a survey to someone saying.. you’re a healthy control for some research we’re doing, most people will respond.