Who am I? Do I Really Want to Know?
By Caroline Santoro
If spitting in a test tube could decode your distant ancestry and future health, would you do it? Since its founding in 2006, 23andMe has offered this insight to the two million people who purchased their at-home personal genetic services. While other product offerings compete with them, 23andMe epitomizes the controversy around home DNA tests, as it is the only direct genetic service whose reports meet FDA standards. Direct-to-consumer DNA tests are growing in both popularity and availability, so much so that in the next five years, the global market is expected to be worth around $10 billion. This explosion in use raises a plethora of questions about the efficacy and morality of the products. Are home DNA tests the product of the future, giving everyday people knowledge to make better health decisions? Or are they a malignant scam, driving people to worry about a future they cannot predict and cannot control?
The 23andMe process requires $200, six to eight weeks, and no blood, needles, or doctors. The company currently offers two packages. For $99, the “Ancestry Service” provides four reports, including Ancestry Composition and Neanderthal Ancestry. In addition to ancestry, the $199 “Health + Ancestry Service” offers additional reports on Genetic Health Risk, Wellness, Carrier Status, and Traits. After choosing a service, the customers receive in the mail a saliva collection kit. Following the provided directions, they spit in the tube and mail the kit back to the lab.
While they wait, the CLIA-certified lab transforms the customer’s saliva into a detailed report. Since saliva contains DNA from the skin cells that that line the mouth, scientists can extract that DNA and run it through a genotyping chip. Reading hundreds of thousands of variants, or differences in DNA, the chip can identify possessed variants that have been scientifically linked to ancestry, health conditions, and personal traits. Shortly after the lab processes the sample, customers receive an email that their report is available online.
23andMe’s mission is “to help people access, understand and benefit from the human genome [in a way that is] accessible, affordable, simple and engaging.” Many customers find that the service is, in fact, quite effective at achieving its mission. For example, when a man named Greg saw that his report labeled him as a carrier for Hereditary Fructose Intolerance, he saw it as a possible explanation for his son’s aversion to fruits and sweets. With additional testing from his doctor, Greg’s son was diagnosed with the rare disease much earlier than most patients and thus avoided liver and kidney damage. In addition to explaining symptoms, information like ancestry, wellness status, and traits can be interesting to customers, as it might explain characteristics like skin color or love of salty foods. In some cases, learning genetic indications encourage customers to seek additional testing, which could lead to early detection of potentially grave problems.
Although learning about serious genetic problems can have benefits to customers’ care, the relatively easy availability of this type of information is perhaps the most frightening risk with at home testing. To address this risk, the company’s distribution of information regarding debilitating diseases (e.g., Alzheimer’s or Parkinson’s), includes extensive legal disclaimers and fine print. They are there for good reason, as 23andMe does not diagnose conditions, and it does not have access to all of the factors that determine health and wellness. However accurate the report is genetically, genetics are only one piece of the puzzle. Knowing the probability that customers might develop a condition does not tell them if they will develop the condition, since the report doesn’t address environment and lifestyle factors like pollution or smoking. The report gives information about personal variants, and while having a particular variant is frequently associated with having a condition, a specific individual is subject to factors that could increase or decrease the likelihood of contracting the condition.
The quintessential example of a controversial 23andMe disease is Late-Onset Alzheimer’s, which deteriorates cognitive function and usually begins later in life. 23andMe’s Genetic Health Risk Report for Late-Onset Alzheimer’s depends on the existence of the APOE ε4 variant. Possession of the variant is associated with increased risk of developing the condition. However, the report can indicate only increased risk and not overall risk, since only 40-65% of people diagnosed with Alzheimer’s disease have the APOE ε4 variant. This means that 35-60% of Alzheimer’s patients could not have known their fate even with the 23andMe test. Moreover, many people who have the variant will never develop the disease in their lifetime. Since there is no known prevention or cure for Alzheimer’s, knowledge of this information arguably could not encourage positive lifestyle change. For these reasons, the genetic testing for this condition has not been recommended by any healthcare organizations, but it continues to be offered by 23andMe.
Although there are some benefits to patients’ being better informed, many medical professionals are concerned about cases where receiving genetic information can lead to destructive life choices. In fact, the FDA voiced this concern in November of 2013 when they banned 23andMe from selling their products. The FDA argued that 23andMe’s report could encourage people to adopt a risk-taking or unhealthy lifestyle either because they thought they were genetically invincible or genetically doomed. For example, the FDA worried that reports suggesting increased risk of a genetic disease might lead to anxiety, depression, and unnecessary expenditures on testing and treatment. As a result, it was not until 2015 that the FDA cleared the products for sale again after requiring the company to better ensure that their customers could understand the results. Even today, 23andMe recommends consultation with a doctor or genetic counselor, but they do not require it as a condition to use their service. This practice raises the concern that average people, uneducated in medical risk and probability, will be more hurt by the product than they are benefitted.
If such life-changing information is accessible in saliva, should people know it? Maybe not, but they at least have the right to buy it. Even if the risks with 23andMe outweigh its benefits, people who buy it are customers and not patients. If 23andMe’s genetic testing service ultimately does more hard than good, it will simply join cigarettes and tanning booths on a long list of products and services that are both legal and harmful.
Consumers can use 23andMe cautiously and thoughtfully to avoid many of the negative consequences of receiving genetic information. For example, they can opt to hide certain results, such as variants for Alzheimer’s or Parkinson’s Disease, since not receiving this particular information removes much of the report’s danger. They could also improve the experience by understanding the disclaimers and interpreting the results as the beginning of an inquiry and not the end. For example, receipt of bad news in the report could be followed up with a visit to the doctor. After all, the traditional practice of voicing a concern to medical professionals and following their advice can allay fears and offer a course of action. To aid this process, 23andMe provides access to the raw data it collected, so additional conclusions can be drawn from professionals and online sites such as Promethease.
Home DNA testing has become a pressing Bioethical issue because information that was previously interpreted by doctors and delivered selectively to patients is now being interpreted by a chip and delivered in a simplified email to anyone who pays. Whether you try a Home DNA Test now, wait for the technology to improve with time, or avoid them entirely is completely your decision. However, they are neither a medical panacea nor a malignant scam – they are what you make of them. Before deciding to use a Home DNA test, think about what you want to get out of it and how you might react to both encouraging and alarming results. Home DNA tests can be purchased by anybody, but they are not for everybody. So spit cautiously.
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