Direct-to-Consumer DNA Testing

 

From Ep #7 of the Does It Work Podcast with Christina Shevchenko, Co-founder at MyWayDNA

More than 15 million people have already ordered direct-to-consumer genetic testing, and researchers expect that number to reach 100 million by 2021.

A Iowan woman named Johnnie Jindrich is claiming genetic testing reduced her risk of ovarian cancer from 63-percent to 11-percent in just two appointments, a blood draw, and $45.

Genetic testing revealed that a Texan boy named Lorenzo could stop his nocturnal epileptic seizures with a nicotine patch.

His mother told Dallas News, “This genetic testing has completely changed the life of my son and our family. To be seizure-free is a wonderful thing.”

Welcome to the seventh episode of the Does It Work? podcast by Biomarker Labs, where you can find wellness without the woo.

This week I sat down with Christina Shevchenko, Co-Founder and Dietitian at MyWayDNA.

Researchers are constantly updating their conclusions on what gene variants mean for patients. Gene variants once thought to be associated with dangerous conditions turn out to be benign, and variants thought to be benign turn out to be dangerous. Yet genetic testing outfits aren’t required to update doctors or patients.

This means people may be making choices like whether to have kids based on outdated information. Do you think that needs to change?

Shevchenko said it’s true that research is uncovering new interactions between genes and properties of genes regularly but she doesn’t think people are basing major life decisions, such as whether or not to have kids, based on OTC genetic testing results.

Genetic diseases cause nearly a fifth of infant deaths in the US, making it the leading cause of annual infant mortality. Most parents don’t realize they’re carriers for debilitating illnesses until prenatal testing or after birth. These deaths are nearly entirely preventable through preconception genetic testing which reveals the gene mutations you’re likely to pass on to your kids. Despite the obvious benefits a recent study showed that only one in six family physicians or OB/GYNs offer preconception genetic testing.

Certain illnesses cluster around certain ethnic groups, such as Tay-Sachs disease and cystic fibrosis among Ashkenazi Eastern European Jews and sickle cell anemia among African Americans. Many believe these groups should definitely get carrier tested, but Shevchenko goes further, comparing getting pregnant without preconception genetic testing to “playing Russian Roulette.” More and more doctors are extolling the benefits of preconception genetic testing.

Here’s a good guide to preconception genetic testing.

And it’s important to remember that even if you get bad news, the options are broader than having kids or not having kids. For instance you could use in-vitro fertilization to weed out embryos with the mutation in question, or use a sperm donor or egg donor who doesn’t carry the mutation. And soon we may be able to use CRISPR to edit the mutation right out! Plus, there are some genetic conditions, such as Wilson’s disease, that are difficult to diagnose without genetic testing but easily managed once you know.

I asked Shevchenko about some key differences between at-home genetic testing and physician-guided genetic testing and whether she agrees with Colleen Campbell, director of genetic counseling operations for the University of Iowa Hospitals and Clinics in Iowa City, who thinks that over-the-counter genetic testing should never be used in isolation of professional guidance to make medical care decisions.

Shevchenko said that one primary difference is that MyWayDNA would never recommend any medical decisions based on genetic test results. If a test reveals a predisposition for breast cancer, for instance, the recommendation would be to see a doctor and re-run the test to be sure. Another difference is that physician-guided genetic testing tends to be reactive as opposed to proactive. So for example a patient would see a doctor about chest pain, and the doctor might notice the patient have some of the physical manifestations of Marfan syndrome and test for that.

In 2012, parents whose kids have cystic fibrosis successfully pressured their school district to remove a boy from his public middle school because a genetic test displayed markers for cystic fibrosis because he could pose a threat of infection to their kids. The Brookings Institute wants to see GINA protections expanded to encourage Americans to take advantage of genetic testing without the fear of repercussions.

Are fears around discrimination against patients with genetic markers for illness founded

Shevchenko said she doesn’t think that the cystic fibrosis case has anything to do with genetics. “Some people are just assholes,” she said. But, she cautions people to store their genetic data like any other sensitive information -- carefully. She’d hate for cases like this to discourage people from genetic testing because the more people who sequence their genes the faster we’ll discover more about what the genes mean.

I asked Shevchenko about what our genes can tell us about our sleep. She said the p-values are still low for a lot of these questions, but one thing you can tell from your genes is whether or not you’re inclined to be a morning person or a night owl. She is even used this information to decide to begin work at MyWayDNA at 11 am to accommodate the company’s night owls.

Would you like to assess the effect of MyWayDNA recommendations or any wellness improvement on yourself? The Biomarker app connects with your wearables to let you know how well your wellness choices are working for you. Sign up to beta test at biomarker.io. Or email me at cathy@biomarker.io.

To learn more about the Does It Work? podcast, check out http://www.biomarker.io/podcast

Music credit: Eli Carlton-Pearson http://psdspmusic.com/

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