In-depth, personal reporting digs deep into consumer genetic testing Date: 01/03/20
By Tara Haelle
Tina Hesman Saey won second place in the Consumer/Feature (small) category of the 2018 AHCJ Awards for Excellence in Journalism for her multi-part series on DNA testing for Science News. Here she discusses how the story came about, her reporting process and the resources she used while working on the story.
Q: Tell us how this story came about.
A: For a decade people have been able to get spot checks of their DNA through 23andMe and other companies. Hundreds of thousands of natural variations are cataloged in these spot checks, called SNP testing, but that represents much less than 1% of all your DNA.
The only way to get your all DNA sequenced — by which I mean having every single letter of your DNA, or genome, read — was to join a research project. Most of those did not report results back to study participants.
Then, a company called Veritas Genetics started offering whole genome sequencing for just under $1,000. About the same time, other companies were offering to sequence exomes, the 1% or so of your DNA that encodes proteins. I wanted to know whether having more DNA sequence would actually give me more insight into why I am the way I am.
It was definitely my idea to make myself the guinea pig. I thought a lot about whether I would want to know scary health information or family secrets before I started and decided that I could handle it.
I kept getting questions from friends and family about how accurate these tests are and which ones are better. I felt that the only way to determine that was with a controlled experiment: send the same DNA to all these companies to see whether the results match, and compare their predictions to what I can document. The easiest way to do that seemed to be to send my own DNA.
Science News paid for the whole genome sequencing from Veritas Genetics, whole exome from Genos and the health and ancestry test from 23andMe. I took advantage of sales to do AncestryDNA, LivingDNA, FamilyTreeDNA and Helix on my own.
I recently also did MyHeritageDNA because they are now offering health and ancestry testing. Science News paid for that. I will be updating my review soon to include this test.
Q: What was your biggest challenge during the reporting process?
A: Although I was the DNA donor for all this, I didn't want the story to be about my genetics. After all, I have a boring genome. I wanted the series to reflect the experience other people might have.
To do that, I needed to find people who also had experience with DNA testing and back these anecdotal accounts with data collected in research trials. Boiling all of that down into something useful was sometimes painful because I had to leave out so much fascinating stuff.
Q: How did you handle the organization of the story?
A: I had conversations with my editors about how we would break down the series. The second story in the series changed dramatically from the first plan. I had already written a draft of a story about what genetic risk really is when news broke that 23andMe would be offering breast cancer testing information.
At that same time, data on errors from these types of tests was being published. I had been learning a lot about these sites that will analyze DNA data. It all came together and became clear that we needed to scrap the other story and focus on raw data analysis for the second story in the series.
Q: How did you bone up on the basics of testing and what it means to be able to explain the science as you went?
A: I read white papers from the companies. I talked to doctors and scientists at companies and academic institutions and read hundreds of medical and basic genetic research studies. I have been covering genetics for a long time, so I was already familiar with the basics of how the testing is done, but the programs and nuances of analyzing that data is quite complex.
Q: Tell us how you used medical studies in your reporting.
A: I relied heavily on medical studies. Through my previous reporting, I was already aware of several big projects and their findings, but new work is constantly being published. I kept my eye on PubMed.
The American Society of Human Genetics meeting in 2017 had a flood of data of the kind that I needed. I made note of those preliminary results and made sure to follow up with the researchers when they were publishing their results. I also asked my scientist sources for additional references and resources.
Many of the medical studies are not directly applicable to direct-to-consumer testing because the testing is much more thorough in the medical setting. But I was able to extract information on how many consumers might expect to find a serious health concern in their DNA.
Q: What other resources did you rely on for your reporting?
A: Companies’ white papers are not peer-reviewed although they may be based on peer-reviewed techniques. I read those and talked with researchers at the company and also in academia about how the analyses are performed.
And, of course, the data I collected on myself is not peer-reviewed. But I cross-referenced all the available data each company gave me and checked whether the other companies got the same result. Usually, they all agreed on whether a particular variant was present, but they didn't agree on what it meant.
Q: What difficulties did you encounter in understanding the studies you used, and how did you overcome those challenges?
A: I did have trouble understanding many of the very sophisticated statistical analyses genetics researchers use to analyze DNA and come up with the results they present to consumers. I talked to many scientists to help me understand why these computer programs were giving different answers given the same DNA data.
I got to a point where I could understand, and relate to my readers, some of the reasons why results vary. I'm still not at a point where I could do these analyses myself or devise a program that could.
Q: What other challenges did you encounter?
A: Sometimes piecing together a person’s story is challenging. For Michael Douglas, who has a lot of health problems and a complicated family history, this was especially difficult.
We unspooled his story over a series of interviews. I talked with him extensively about how much medical and family information he was comfortable sharing. He is pretty open but did decide to withhold some details to protect privacy for some of his family members.
Luckily I didn’t have to deal with revealing any personal genetic scare stories because I didn't uncover any. If I had, though, I would have needed to have a serious discussion with my family, my doctor and my editors about what to reveal and what not to.
Q: What advice would you offer to other reporters interested in writing about this topic?
A: It’s important not to present a personal story as if it is the norm. You need to know whether your anecdote is representative of your audience. If it’s not, you need to say so.
See if you can also find someone who is more representative, and be sure to point out that other people may have different experiences. Let the data be your guide for what that experience is likely to be. For medical genetic data, especially, it's important to realize that the vast majority of data collected is on people of European heritage. It may or may not be applicable to people whose ancestors come from other parts of the world.
I was extremely lucky that Science News supported this series. Not only did they pay for some pricey genetic tests, but I was also given time away from writing news stories to work on the series. That required my colleagues to take up a lot of slack and pitch in on my beat as well as covering their own. It was a big sacrifice on everyone’s part.
Tina Hesman Saey is a geneticist-turned-science writer who covers all things microscopic—and more. She has a doctorate in molecular genetics from Washington University in St. Louis and a master’s in science journalism from Boston University. After seven years at the St. Louis Post-Dispatch, she took a staff reporter position at Science News. Follow her at @thsaey.