According to the National Institutes of Health, genetic testing is available for more than 2,000 medical conditions from over 500 different laboratories. Before April 2017, genetic testing was restricted to only healthcare professionals. Yet, with the FDA’s approval of the direct-to-consumer genetic test, consumers can now purchase DNA kits to assess their risk of developing any 1 of 10 diseases from the privacy of their own homes.
After purchasing the test, the individual has to provide a sample of their saliva, which they then mail directly to a laboratory for analysis. At the laboratory, a lab technician or genetic specialist examines the sample for any genetic mutations that might increase the individual’s risk of a certain disease. The results can be obtained online or via telephone.
If an individual knows that they are at a higher risk of developing a genetic disease, such Alzheimer’s disease or Parkinson’s disease, they can take preventive measures. However, it is important to bear in mind that a positive result does not necessary indicate that a disease is likely to develop. For instance, coronary heart disease can be genetic, but factors such as a sedentary lifestyle and poor diet can increase the risk of developing the disease. For this reason, the Clinical Laboratory Improvement Amendments (CLIA) screen in-clinic genetic testing in an attempt to:
- Determine the absence or presence of a specific gene mutation.
- Determine the absence or presence of a specific gene mutation in association with a specific disease.
- Determine the usefulness or preventiveness of the genetic test.
The CLIA do not guarantee that the results will be precisely relevant to an individual’s health, but they do guarantee that the results are managed accurately under suitable conditions.
The drawbacks of at-home genetic tests
At-home genetic tests are easy to take and they will not require your patients to come in and see you or get approval on their insurance. However, there are a few drawbacks that you, as a doctor, should inform patients who are considering genetic testing in the privacy of their own homes.
- Environmental factors are not taken into consideration – It is a well-known fact that specific types of environmental factors increase the risk of a specific type of disease. Each patient should be aware that factors as diet, lifestyle, use of medications, exposure to toxic chemicals, and several others may add to their risk of a specific disease; however, there is a chance that they may never develop it. Similarly, a patient may not be genetically predisposed to a specific disease, but environmental factors might contribute to the disease anyway.
- They are not cheap – At-home genetic tests range in price, from $200 to thousands of dollars. They may not be affordable to all patients. You should inform each patient that if they are at an increased risk of a specific disease, they need to take into account their budget and various costs. This means that while an at-home genetic test may prove cheaper, they may need to undergo other tests and these costs tend to add up.
- They may affect insurance – Is genetic testing covered by insurance? In many cases, insurance plans only cover the costs of genetic testing when they are recommended by a healthcare professional. However, if a patient is at an increased risk of a specific disease, standards do not relate to life insurance providers, disability or long-term care. All patients should be aware that the results of genetic testing can be used against them, making them ineligible for coverage.
- Nothing can be done about the results – Patients should be aware that results from at-home genetic tests may invite issues, such as anxiety. Several experts feel that with diseases such as Parkinson’s or Alzheimer’s, it may not be clear to a patient what the benefit would be in knowing that they MIGHT develop a disease that has no cure. For instance, Parkinson’s genetic testing results may indicate a patient’s predisposition to the disease, but they may never develop it and instead spend years worrying about it.
- A doctor may not know how to handle the results – When it comes to genetics, medicine is continuing to advance but this does not indicate a complete understanding on the subject. For several genes that the at-home genetic tests offer information about, you may not have sufficient information about how they are associated or how they affect a specific disease.
- A false sense of hope and security can arise – At-home genetic tests that reveal an increase in gene mutation for a specific disease may motivate a patient to become healthier. However, what if they are not at risk? This may give the patient an ‘excuse’ to be unhealthy because they believe they are safe from certain diseases.
- Data is limited on age and ancestry – Much of the preparation for genetic test results is based on data gathered from middle-aged and older individuals who are Caucasian. If a patient is of a younger age or not of European descent, they should be aware that their risk results may be inaccurate.
Potential benefits that can come about from genetic testing include the motivation to undergo check-ups on a regular basis, eligibility for screening in the early detection of a specific disease or condition, and the need for preventive surgery. Still, it is best that patients’ visit with a qualified genetic specialist prior to testing. They can help interpret the consequences of genetic risk and offer advice on how to monitor/prevent early signs of a specific disease.
To date, genetic tests are not sufficiently reliable enough for individuals to base proper preventative plans. If an individual receives an inaccurate result stating that they are at risk of a genetic disease, they may start to experience unnecessary anxiety and concern. Still, those who receive false-negative results may indulge in unhealthy behavior and neglect to take preventative action. “It is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease,” said Dr. Jeffrey Shuren, director of the Center for Devices and Radiological Health at the FDA.
For now, the possibilities are limited. Not all diseases are derived from genes. In fact, some arise from environmental and lifestyle factors. They may interact with one’s genes, but the external factors are generally the main trigger. As at-home genetic testing becomes more sophisticated, it will become more useful in medicine and better regulated. “The true value of personal genetic testing is its ability to collect the genetic data from millions of individuals into one large database for research purposes. Too often, fragmentation in the scientific community or high costs impede aggregation of data and high-quality research. Through partnerships with academic universities, pharmaceutical companies and charitable foundations like the Michael J. Fox Foundation, scientists in numerous disciplines have access to the data they need to generate tomorrow’s advances,” wrote Suneel Kamath, an oncology-hematology fellow.
As a healthcare professional, it is your responsibility to educate yourself on issues associated with at-home genetic testing so that you can better help patients make informed decisions and give them the support that they need. “We have to be realistic. This technology is out there and people are going to use it. We just have to make sure that it is accurate and used properly and that where it isn't, these tests are treated as a kind of fraud. After that it's up to the punter and his medical adviser to decide” said Dr. Ron Zimmern, director of the Foundation for Genomics and Population Health at Cambridge. If a patient chooses to unlock the mystery of their own genes with an at-home genetic test, they should be prepared to decipher their own test results. Yet, as to what the test results might mean for them and their family is not something that can be easily predicted.
- At-home genetic tests have a number of disadvantages, like providing a false sense of security.
- The may provide the motivation to undergo regular check-ups.
- Tests taken by non-Caucasians may prove inaccurate.