Can Genetic Testing Services Really Predict Your Future? | Retro Report
September 7, 2019
The genetic testing industry is booming.The more you know about your DNA, the more you know about yourself.There is a simple genetic test that could show you whether you’re likely to get aserious disease.DNA tests are now being sold for everything from lactose intolerance…Farewell, dairy.…to cancer.It’s like a cancer stethoscope.But how well do they predict the future?I could get stomach cancer.It was an 83 percent chance of it.I definitely thought you have the gene or you don’t have the gene.I did not think there was any gray area.Excited for class today?Yup.Yup, I can feel the energy.There were five kids in my family.My brother Steve is the one who had the mutation and passed away.Massachusetts teacher Beth Lambert lost her brother in 2006. He had stomach cancer caused by a rare mutation in a gene called CDH1.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.How has your day been?I was 38 years old.I was married.I had two kids.It was not a difficult decision, because we watched our brother suffer.For Beth and her family, the promise of genetic testing is clear.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.Lifesaving genetic tests were among the things scientists hoped for when they sequenced the human genome in the 1990s.It will give you power over your own life,instead of just randomly waiting for symptoms to appear.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.We are going to know why I am at risk for one thing and you’re at risk for another.Silicon Valley pioneer Anne Wojcicki is a big believer in the power of genetic testing to help keep us well.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?In 2006, with backing from Google, she started 23andMe, selling direct-to-consumer DNA test kits.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 world do you come from,prostate cancer risks, Alzheimer’s.23andMe saved my life.While 23andMe sold directly to consumers…The NeoGen company.…the use of DNA tests by doctors was also growing.Breast cancer runs in my family.BRCA1 and -2 screening for breast and ovarian cancer is one of genetic testing’s best known success stories.The actress Angelina Jolie went public about her choice.To avoid cancer, women who test positive can choose extra monitoring or to have their breasts or ovaries removed.As for Angelina Jolie, her risk of breast cancer fell from 87 percentto less than 5 percent.Can I have a cookie now?Kelly Donahue was diagnosed with breast cancer when she was 37 years old.I had the most wonderful life you could possibly have.And this kind of put my world to a stop.Did you give the boxes?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?We’ve been collecting data on the BRCA1 and -2 genes,and there are hundreds of variantsin those genes that we don’t understand today, that no one understands.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.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 causedisease 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,when that patient may never have been at risk.Kelly’s gene test was inconclusive, but because she did have breast cancer, her doctor agreed to a double mastectomy.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.”Hi.Good to see you.Harvard geneticist Robert Green studies how genetic tests are perceived and used. He says Kelly’s decision reflects long held beliefs.Thinking about having multiple children,we went and had ourselves genetic tested.The early low hanging fruit were the diseases where if you had a mutation,you definitely got the disease.Tay-Sachs testing will be held in your community soon.And this gave us a narrative in geneticsthat we could do this for many, many types of diseases.But it’s just much more complicated than we thought.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.You have this mutation in,for the disease chondrodysplasia punctata.And yet, you have had no complaints that would be related to this condition.I am almost 60.There’s no symptoms, so, no, I don’t worry about it.He had a mutation, which is associated with a bone disease.Now, he doesn’t have a bone disease.For doctors and patients, it’s hard to know what to do with these kinds of results.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.Green cautions that testing’s ability to predict future health may be most limited when it comes to the conditions we most worry about.For the vast majority of heart disease, diabetesand 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.Ironically, at the same time scientists were discovering limits to their predictions, the business of DNA testing was booming.Thirty-two companies advertise on the internet offering to test your genomefor a host of diseases.Tests that promise to predict your future, your risk for cancer, for other diseases.By 2013, 23andMe had tested over half a million people, for an increasingly wide range of ailments.Users can find out about more 250 health conditions and traits.The results cover everything from lactose intolerance to Alzheimer’s disease.But the Food and Drug Administration determined that 23andMe’s results, along with results from other direct-to-consumer tests, were not clinically validated.In terms of what the results mean,for many of the claims being made by these companiesthe science is not yet sufficiently evolved.The FDA then sent a scathing warning letter, ordering 23andMe to halt the sales.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 approved just 13 health risk reports and a few dozen for carriers of disease genes.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 accurateand then make sure that people understand it.The FDA is developing new regulations for consumer medical tests. But in the meantime, testing your genome is not just about diseases.Vinome is revolutionizing the pursuit of winethrough genetic testing that pairs personal taste to perfect bottles.And it’s big business. Companies make money selling tests…Unprecedented insights about your fitness potential.…and also selling users’ DNA data to drug companies for research.It’s part of a market that’s expected to generate $600 billionglobally by 2020.23andMe, whose millions of users fill in elaborate health surveys, has several lucrative partnerships.It could be Parkinson’s with one company.It’s Lupus with Pfizer.The combination of the data from the surveysand the data from the genome will enable usto do massive, huge studies.I do think that there’s a race about data and genetics and really understandingwhat you do with that.And everyone’s running fast.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.Now we’re sequencing millions of genomes and learning something new witheach successive one.Over time we will understand what this information means.Our hope is that we can identify true risk for diseaseat a level where an intervention makes sense.The way it did for Beth 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.