You’ve Got Genetic Mail: What You Should Know About Mail-Order Genetic Testing

“Where are you from?” is a question that Dr. Shari Ochoa used to dread.

When she answered, “Northern Indiana,” people would ask again, explaining that they really wanted to know about the countries from which her ancestors originated.

As an adoptee, she had no answer to give, and she preferred not to share that she was adopted. After taking an ancestry test from 23andMe, she now has a quick and easy answer to that question from others. She also has answers to questions she had wondered about for years.

She’s not alone. Five million people have done the AncestryDNA test and millions more have used tests from other companies. People are searching for answers to their own questions: Who am I? Where did I come from? What was my family’s past? What does my future hold? Am I at risk for diseases?

How It Works

People seeking answers to these and other questions now have a way to get answers — and they don’t even have to leave the house. Direct-to-consumer genetic testing has exploded as an industry. Companies like Ancestry, 23andMe, Family Tree DNA, Color and more offer tests that you can order online and complete via mail.

While it may feel like a chapter out of a science-fiction book, the development of these tests doesn’t surprise those in the industry. “This is something that the genetic community has been anticipating for a long time,” says Scott Weismann, certified genetic counselor at Chicago Genetic Consultants and member of the National Society of Genetic Counselors (NSGC).

While the process can vary a bit depending on company, the approach to the technologically advanced and complex process of genetic analysis is fairly consistent. It begins with a very basic and decidedly low-tech step — spitting saliva into a tube. Then you place the tube in the provided packaging and pop it in the mail.

The saliva, which contains cells from your mouth that have your DNA, travels to a lab where it is extracted and processed. The DNA is extracted and analyzed given various sets of markers.

Results are made available via email and access to reports online in a matter of weeks or months, depending on the time frame. Those results can provide customers with a dizzying amount of information about themselves and their relatives.

Ancestry Tests: Where You Come From

genetic testing: AncestryDNA

Photo courtesy of Ancestry.

Ancestry and 23andMe are the leading providers of ancestry tests, which can identify both the genetic ancestry and relatives. The results between the two companies do not always match up, and often vary to some degree. Weismann says that’s because the companies use slightly different markers.

People are often surprised to learn about their genetic heritage. Ochoa’s husband, who was born in Mexico, had no idea he had relatives who were Ashkenazi Jews until doing the testing alongside his wife. Other learn that they are less Irish than they had been raised to believe, such as in this riveting story from the Washington Post.

Learning about your heritage can be helpful not only in terms of knowing about your past but can also be helpful for the future. “Ancestral information can be helpful for family planning and can sometimes give individuals a better sense of their risk of disease, given that some populations have higher risks,” explains Weismann. “For example, the Ashkenazi population has a higher rate of the BRCA mutation.”

The results will show you others who have taken the test to whom you are related. Sometimes, people are surprised to find relatives they never knew they had. Jennifer Smith (name has been changed) logged in to her account on Ancestry one day to show a friend the breakdown of her heritage. She was shocked to see a notification at the top of the page announcing that she had a match for her birth father, an individual whom she had never met and believed was deceased. Her adoptive parents are still struggling with her decision to reach out to him. The findings have both created new relationships and strained existing ones.

If that’s a concern, users should pay close attention to their privacy settings and read the fine print. “We surface information about learning unexpected relationships and require customers to consent prior to participating in our genetic relatives tool called DNA Relatives. Whether or not a customer chooses to participate in these tools on our site is completely voluntary and does not impact a customer receiving their results,” says Rachel Reichblum, a spokesperson from 23andMe.

While Ochoa has not connected with DNA relatives, having a better of idea of where she came from gives her peace of mind. “This makes genetics less of a social stigma and more of something we all do now. A test like this would have lessened the drama that I felt. When you take away the mystery, you also take away some of the power,” she says, adding, “Your genetics are not necessarily who your family is.”

Health: Using Tests to Learn About Your Health and Risk Factors for Diseases in the Future

genetic testing: 23andMe

Image courtesy of 23andMe.

23andMe garnered a great deal of attention earlier this year with its the latest addition of Genetic Health Risk reports, including late-onset Alzheimer’s Disease and Parkinson’s Disease. “Consumer interest in our product has steadily grown since the introduction of these reports,” says Reichblum. However, they may not be as helpful as consumers hope. “People think these tests give them more information than they actually do,” cautions Weissman.

Each genetic health risk report provides information as to whether a person has variants associated with a higher risk of developing a disease, and does not indicate an individual’s overall risk of developing the disease in the future.

“They are only looking at a couple of markers, and those don’t cover all the risk,” he explains. He notes that a genetic counselor can take into account an individual’s genetic information, odds, family history and other data and synthesize all that information to explain what it means in terms of an absolute risk.

The Alzheimer’s Association agrees that a genetic counselor should be involved both before and after testing. The organization issued a statement on genetic testing that reads in part, “At-home genetic testing, or other genetic testing outside of a research setting, must be considered very carefully by an individual, in consultation with his or her family and physician. Things to think about when considering genetic testing for Alzheimer’s disease may include how it could affect one’s employment, health insurance and long-term care insurance. People should receive genetic counseling before a test is ordered and when the results are obtained.”

Weissman also worries about the emotional responses and unmerited concern that these tests could elicit unnecessarily given that “the marker could be a chance finding.” Moreover, he notes that not everyone with those markers will go on to actually develop the disease.

The Alzheimer’s Association agrees, noting, “Having one or two copies [of] the most impactful known Alzheimer’s risk gene (APOE-Ɛ4) only provides very general information about increased Alzheimer’s risk.” It goes on to suggest that someone concerned about risk of dementia should consider making lifestyle changes given that “growing evidence indicates that people can reduce their risk of cognitive decline by adopting key lifestyle habits.” The Alzheimer’s Association shares 10 ways to reduce risk of the disease here.

DNA is one data point amongst many that a physician or genetic counselor uses to assess risk. “It’s not the entire picture,” Ochoa says.

Having that data point can empower people to make positive changes, says Reichblum, adding that the company hopes people use their reports “to take control of their health and speak with their healthcare providers about how to mitigate their risks.”

23andMe also offers wellness reports, which can provide information that can help inform lifestyle choices, including whether they are lactose intolerant or susceptible to caffeine.

Weismann cautions that results may not always be completely accurate and not the same as undergoing a clinical genetic test and notes some people make significant lifestyle changes that clinical testing later shows to be unnecessary.

23andMe states on its website that reports are not “to be used to make medical decisions, including whether or not you should take a medication or how much you should take.” Weismann recommends reading the fine print and keep in mind the language about the test not being intended to be used for medical purposes.

Medicine: What Prescriptions Are Best?

There are other companies who are wading into the waters of what DNA means in terms of medication, providing personalized reports that cover how more than 300 widely-used drugs impact the individual based on their genetic makeup.

Jake Velie, CEO for Rx-Precision, the distributor of  My Prescription Plan, explains that they are a niche test focused only on the 50 genes responsible for the metabolism of prescription drugs. “In the past, standardized clinical protocols meant that when patients present with a certain set of symptoms, they are generally treated the same way, without regard to the individuality of the patient.” That could all change with pharmacogenetics testing.

My Prescription Plan is available directly to consumers but is regulated by the FDA and requires physician involvement because it is medically actionable. “We really like that difference. It’s important for a patient to have a relationship with their physician who can help them interpret their report, which is 28 pages long and contains a massive amount of information,” says Velie.

The report includes which medications are a good fit, dosing suggestions and warnings about which drugs to approach with caution or avoid.

Privacy Risks

Privacy concerns are paramount. As usual with technological advances, the law is evolving and not exactly ahead of the issue, but rather responding to scientific developments, and not always quickly. The federal Genetic Information Nondiscrimination Act (GINA) prohibits some discrimination, but not all. GINA does not cover life, disability, or long-term care insurance. For some, the lack of protection in all areas is a reason to not get tested.

There’s also the issue of data security. “We employ software, hardware, and physical security measures to protect customer data. Personally identifying information is stored separately from genetic data and in line with the highest industry standards for security,” explains Reichblum. On their website, though, 23AndMe notes that “it is never possible to fully guarantee against breaches in security.”

In this article published in Forbes earlier this year, Peter Pitts, a former FDA associate commissioner and president of the Center for Medicine in the Public Interest, says that direct-to-consumer testing companies are known for “burying privacy disclaimers deep in their contracts and refusing to disclose how long they keep customer data or how it can be used.” He recognizes the “tremendous” benefits of the testing but fears this sensitive data needs to be handled more cautiously than it currently is. Individuals must weigh privacy along with other considerations prior to proceeding.

The Takeaway: To Test or Not to Test?

“This testing can be both a detriment and a benefit. It all depends on how informed people are,” says Ochoa. “You have to look at it in context. Follow-up should be discussing this with your doctor and not making any life changes as a result. You have to examine it in the context of everything else going on in your life.”

While DNA makes each of us unique, genetic testing can help us discover our connections and help us see our similarities, too. She says that in talking with others who have done the testing, that everyone has a story and “In a world when there are stark divisions between groups of people, this may be a way for people to realize that we’re not as different as we think we are,” says Ochoa.

To find a genetic counselor, check out the free locator on the NSGC website, and learn more about what they do and how they work on the NSGC consumer website.

 

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Shannan Younger

Shannan Younger is a writer living in the western suburbs of Chicago with her husband and teen daughter. Originally from Ohio, she received her undergraduate and law degrees from the University of Notre Dame. Her essays have been published in several anthologies and her work has been featured on a wide range of websites, from the Erma Bombeck Humor Writers Workshopto the BBC. She also blogs about parenting at Between Us Parents.

Shannan is the Illinois Champion Leader for Shot@Life, a campaign of the United Nations Foundation that supports vaccination efforts in developing countries to ensure life-saving vaccines reach the hardest to reach children. “Vaccines are one of the most effective ways to save the lives of children in developing countries and I’d love nothing more than to see diseases eradicated,” Shannan says. “We are so close to getting rid of polio for good!”