Selling the Code: Can Genetic Testing Services Really Predict the Future

ARCHIVAL (CBS NEWS, 2-10-16):
JIM AXELROD: The genetic testing industry is booming.

ARCHIVAL (23ANDME COMMERCIAL):
The more you know about your DNA, the more you know about yourself.

ARCHIVAL (CBS NEWS, 11-7-13):
NORAH O`DONNELL: There is a simple genetic test that could show you whether you’re likely to get a serious disease.

NARRATION: DNA tests are now being sold for everything from lactose intolerance…

ARCHIVAL (COMMERCIAL):
Farewell dairy.

NARRATION: …to cancer.

ARCHIVAL (INSIDE EDITION):
It’s like a cancer stethoscope.

NARRATION: But how well do they predict the future?

ELIZABETH LAMBERT: I could get stomach cancer. There is an 83 percent chance of it.

KELLY DONAHUE: I definitely thought you have the gene or you don’t have the gene. I did not think there was any gray area.

TEXT ON SCREEN: RETRO REPORT & STAT PRESENT:

SELLING THE CODE
WITH SPECIAL CORRESPONDENT CARL ZIMMER

ELIZABETH LAMBERT (PATIENT): There were five kids in my family. My brother Steve is the one who had the mutation and passed away.

NARRATION: Massachusetts teacher Beth Lambert lost her brother in 2006. He had stomach cancer caused by a rare mutation in a gene called CDH1.

ELIZABETH LAMBERT: The next step was for all of us to be tested. There are four remaining children in my family. Three of us tested positive for the mutation, and we knew our choice was to have our stomachs removed. If I didn’t do this, I could get stomach cancer. It was an 83 percent chance of it. I was 38 years old. Married. I have two kids. It was not a difficult decision, because we watched our brother suffer.

NARRATION: For Beth and her family, the promise of genetic testing is clear.

ELIZABETH LAMBERT: One percent of stomach cancers are of this type. At that point I think only about 100 families in the world even had it. There are so many people in the world who have a genetic condition, and there’s no solution. I feel so grateful that we have a choice.

NARRATION: Lifesaving genetic tests were among the things scientists hoped for when they sequenced the human genome in the 1990s.

ARCHIVAL (ABC NEWS, 6-26-00):
CRAIG VENTER: It will give you power over your own life, instead of just randomly waiting for symptoms to appear.

NARRATION: By the time the Human Genome Project was unveiled in June of 2000, it seemed as if testing would soon be available for almost any ailment.

ARCHIVAL (CBS NEWS, 11-9-99):
FRANCIS COLLINS: We are going to know why I am at risk for one thing and you’re at risk for another.

NARRATION: Silicon Valley pioneer Anne Wojcicki is a big believer in the power of genetic testing to help keep us well.

ANNE WOJCICKI (FOUNDER AND CEO 23ANDME): What I want to know is what’s the best way for me to live. What am I at risk for? How should I modify what I’m doing so I can be as healthy as possible?

NARRATION: In 2006, with backing from Google, she started 23andMe, selling direct-to-consumer DNA test kits.

ANNE WOJCICKI: I believe that the consumer is capable enough to get this information on their own. Everyone could be a geneticist. Everyone can understand it. This is what you get in the mail. It’s super easy. You get the little tube. You spit in here. We tell people what the variations are in their genes. The first product was 12 reports. How much Neanderthal do you have, which parts of the worlds do you come from, prostate cancer risks, Alzheimer’s.

ARCHIVAL (23ANDME COMMERCIAL):
23andMe saved my life.

NARRATION: While 23andMe sold directly to consumers, the use of DNA tests by doctors was also growing.

ARCHIVAL (COMMERCIAL, 2003):
Breast Cancer runs in my family.

NARRATION: BRCA1 and 2 screening for breast and ovarian cancer is one of genetic testing’s best known success stories

ARCHIVAL (CBS NEWS, 5-14-13):
SCOTT PELLEY: The actress Angelina Jolie went public about her choice.

NARRATION: To avoid cancer, women, who test positive can choose extra monitoring, or to have their breasts or ovaries removed.

ARCHIVAL (CBS NEWS, 5-14-13):
JON LAPOOK: As for Angelina Jolie, her risk of breast cancer fell from 87 percent to less than 5 percent.

NARRATION: Kelly Donahue was diagnosed with breast cancer when she was 37 years old.

KELLY DONAHUE: I had the most wonderful life you could possibly have. And this kind of put my world to a stop. They sent me for a genetic testing. If you test positive for either BRCA1 or BRCA2, the recommendation is to have a double mastectomy, as well as a removal of your ovaries. I do remember getting the phone call and saying, “Oh, what’s the news? Is it positive or it’s negative?” “Well, it’s not positive, Kelly, and it’s not negative. You have a variant. A variant of unknown significance.” And so now, what does that mean?

HEIDI REHM (GENETICIST, HARVARD MEDICAL SCHOOL): We’ve been collecting data on the BRCA1 and 2 genes, and there are hundreds of variants in those genes that we don’t understand today, that no one understands.

NARRATION: Geneticist Heidi Rehm runs ClinGen, a data project that analyzes test results and symptoms from thousands of people, hoping to figure out what gene variants—or mutations—mean.

HEIDI REHM: When we sequence an individual, they have about five million variants. That means five million spots where they’re different than someone else. And the big challenge is trying to figure out which ones are actually going to cause disease and which ones have no clinical impact. If you’re wrong, that can have huge consequences. There are patients that may have had their breasts removed unnecessarily. There are patients that could have had a device implanted in their heart, that patient may never have been at risk.

NARRATION: Kelly’s gene test was inconclusive, but because she did have breast cancer, her doctor agreed to a double mastectomy.

KELLY DONAHUE: But now I had to worry about my ovaries. I didn’t want to hear five years later, “Oh, you know that variant that you have? Well, now it’s positive.” And then, like, already have cancer in my ovaries. In the back of my mind I had this worry. So I just kept going to appointment after appointment until finally they said, “Okay. We will take your ovaries out.”

NARRATION: Harvard geneticist Robert Green studies how genetic tests are perceived and used. He says Kelly’s decision reflects long held beliefs.

PATIENT (SPEAKING TO ROBERT GREEN): …thinking about having multiple children, we went and had ourselves genetic tested.

ROBERT GREEN (GENETICIST, HARVARD MEDICAL SCHOOL): The early low hanging fruit were the diseases where if you had a mutation, you definitely got the disease.

ARCHIVAL (TAY SACHS PSA):
BARBRA STREISAND: Tay-Sachs testing will be held in your community soon.

ROBERT GREEN: And this gave us a narrative in genetics that we could do this for many, many types of diseases. But it’s just much more complicated than we thought.

NARRATION: Recently Green has been testing healthy people. And he’s found that sometimes they can carry a well known mutation—that we expect to be dangerous—without getting sick.

ROBERT GREEN (TO PATIENT): You have this mutation in—for the disease chondroplasia—chondrodysplasia punctata. And yet, you have had no complaints that would be related to this condition.

PATIENT: I am almost 60. There’s no symptoms, so, no, I don’t worry about it.

ROBERT GREEN: He had a mutation, which is associated with a bone disease. Now, he doesn’t have a bone disease.

NARRATION: For doctors and patients, it’s hard to know what to do with these kinds of results.

ROBERT GREEN: What happens if you have a mutation for a cardiomyopathy, a thickened heart wall, but you’ve never had a symptom in your life? Should I be concerned? It’s a completely unknown question.

NARRATION: Green cautions that testing’s ability to predict future health may be most limited when it comes to the conditions we most worry about.

ROBERT GREEN: For the vast majority of heart disease, diabetes and almost all of the common cancers, there simply isn’t one gene, or one gene change, that’s going to predict whether or not you get that.

NARRATION: Ironically, at the same time scientists were discovering limits to their predictions, the business of DNA testing was booming.

ARCHIVAL (CBS NEWS, 5-7-08):
KATIE COURIC: Thirty-two companies advertise on the internet offering to test your genome for a host of diseases.

ARCHIVAL (ABC NEWS, 7-22-10):
DR. RICHARD BESSER: Tests that promise to predict your future, your risk for cancer, for other diseases.

NARRATION: By 2013, 23andMe had tested over half a million people, for an increasingly wide range of ailments.

ARCHIVAL (CBS NEWS, 11-7-13):
NORAH O`DONNELL: Users can find out about more 250 health conditions and traits. The results cover everything from lactose intolerance to Alzheimer’s disease.

NARRATION: But the Food and Drug Administration determined that 23andMe’s results, along with results from other direct to consumer tests, were not clinically validated.

ARCHIVAL (SUBCOMMITTEE ON OVERSIGHT AND INVESTIGATIONS OF THE HOUSE ENERGY AND COMMERCE COMMITTEE, 7-22-10):
DR. JEFFREY SHUREN: In terms of what the results mean, for many of the claims being made by these companies the science is not yet sufficiently evolved.

ARCHIVAL (CBS NEWS, 10-21-15):
GAYLE KING: The FDA then sent a scathing warning letter, ordering 23andMe to halt the sales.

NARRATION: 23andMe had to stop selling health tests, and several of their competitors closed. But to save her company, Wojcicki worked with the FDA. Out of over 250 reports, the agency has approved just 10 health risk reports and a few dozen for carriers of disease genes.

ANNE WOJCICKI: We have had to change everything. We also have a limited subset of what we used to have for reports. But we are working with the FDA to try to get more reports back. They want to make sure that the data’s accurate and then make sure that people understand it.

NARRATION: The FDA is developing new regulations for consumer medical tests. But in the meantime, testing your genome is not just about diseases.

ARCHIVAL (COMMERCIAL):
Vinome is revolutionizing the pursuit of wine through genetic testing that pairs personal taste to perfect bottles.

NARRATION: And it’s big business. Companies make money selling tests…

ARCHIVAL (COMMERCIAL):
Unprecedented insights about your fitness potential.

NARRATION:…and also selling users’ DNA data to drug companies for research.

ARCHIVAL (NBC, 8-25-17):
JOLENE KENT: Part of a market that’s expected to generate $600 billion dollars globally by 2020.

NARRATION: 23andMe, whose millions of users fill in elaborate health surveys, has several lucrative partnerships.

ANNE WOJCICKI: It could be Parkinson’s with one company. It’s Lupus with Pfizer. The combination of the data from the surveys and the data from the genome will enable us to do massive, huge studies. I do think that there’s a race about data, and genetics, and really understanding what you do with that. And everyone’s running fast.

NARRATION: Whether it’s for medicine or commerce, nearly 20 years after the first genome was sequenced, scientists are still trying to understand what our genes mean and how to use them to improve our health.

ANNE WOJCICKI: Now we’re sequencing millions of genomes and learning something new with each successive one. Over time we will understand what this information means. Our hope is that we can identify true risk for disease at a level where an intervention makes sense.

NARRATION: The way it did for Beth Lambert.

ELIZABETH LAMBERT: We were thrilled to have that information, and to be able to do something about it. My brother didn’t have a choice at all, and it’s the greatest gift he could have given us. The surgery literally saved my life.

(END)