Advances in science and technology are typically met with excitement by public. Scientific advancements making genetic testing more affordable and mainstream have proven to be no different. Genetic testing will ultimately be integrated into the medical field as the promise of personalized medicine comes to fruition, and I for one, believe this is a great advancement! However, as with any great scientific advancement we, the scientific community, have the ethical duty to inform the public of the realistic short comings and the unknowns of such advancements.
Today anyone who desires genetic testing can obtain it without visiting a medical professional. Companies like 23andMe1 and ConnectMyDNA2 are only two of a growing number of commercially available resources that allow the general public with the money to do so, to “discover the whole view of you2” through genetic testing. 23andMe markets through a number of different media outlets to get its message across to the public. All you need is $99 dollars and to spit into a container that was sent through the mail1! Sounds great doesn’t it! Not only is this much less expensive than many other types of DNA testing, but according to the 23andme website you can find out if your genes place you at an increased risk for diabetes, arthritis, coronary heart disease, breast cancer, and if your lactose intolerant, and the list goes on.
So what is the potential harm in this? Genetic testing is serious business. It requires more interaction with a genetic counselor or doctor that just about any other lab test. Before a genetic test is performed in a clinical setting, a trained individual, many times a genetic counselor, informs the patient of the likelihood of a positive test and what a negative test result means. Unlike a blood test for diabetes that state the patients’ blood sugar is normal or abnormal; a negative genetic test result does not prove that the patient does not suffer from the genetic disease in question. This is because the worth of a negative genetic test result is completely depended on the knowledge of the scientific community at the time the genetic testing is performed. A patient’s chance of obtaining a useful test result depends on the patient’s ethnicity, family history, and clinical manifestations of the disease in question. In direct to consumer testing (DTC), the patient is not made aware of the scientific likelihood that to test will provide useful results, and what the implications of those results, be it true or not, could mean to the patient’s life.
The patient is also not made aware of likelihood of a false positive, or a test result that states the patient has a misspelling in a gene when in fact their true DNA does not have the misspelling. These false positives are typically due to the short comings of the specific type of genetic test performed by the DTC companies. The term “genetic testing” covers a wide array of different testing modalities spanning from sequencing, or spelling out, the entirety of one gene8 (the gold standard), to generalized assessment of chromosomal markers for studies on inheritance7. The specific genetic test performed by many of the commercial companies, including 23andMe (SNP chip arrays5), increases the likelihood of a false positive test result.
Basically, DTC genetic testing websites that claim to identity medical attributes from patient DNA are providing a medical test without first educating patients about how these tests are performed. When giving a DNA sample to 23andme, the patient is unaware of exactly what information their DNA might provide and the likelihood that these test results are false. The inability of the patient to make an informed decision is a huge ethical dilemma! The high error rate found in DTC genetic testing is so concerning that recently the FDA sent a warning letter6 to 23andme demanding that they discontinue genetic testing until the company could provide “analytically or clinically validated” measurements of their testing. In this letter, the FDA stated a specific example of the type of harm under taking such testing can induce:
“…For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist….. These risks are typically mitigated by ….. management under a physician’s care.”
In essence, the DTC DNA testing companies that provide medical information in their reports are doing so without properly informing the patient about the risk involved in the testing. Genetic testing is just at the beginning stages of becoming clinically, but anyone who has been involved in the field of genetics realizes the far reaching ethical dilemmas that such testing affords. Of which, adiquent patient education is just one concern. Worth noting is that not all DTC companies provide medical information, some only provide ancestry information. For more information on direct to consumer genetic testing please clink on the following link. I have also placed webpages with additional information below.