More and more companies from fields other than medical services are entering the market for genetic testing, which make it possible for people to easily find out the risks of their developing certain types of diseases such as cancer and diabetes.
It is necessary for people to correctly understand the nature of genetic testing available, including its accuracy, before they decide to undergo the tests.
Recent entrants into the market include Internet firms like Yahoo! and DeNA. The number of companies offering genetic testing services more than doubled from 340 in 2009 to around 740 in 2012. Many more companies are planning to enter the business because genetic testing services are not a medical activity and does not require a license.
The companies, which are providing what is considered to be an information service, entrust the job of actual examination of genes to testing institutes.
Still, commercialization of the services carries some problems. The selling point of commercial genetic testing is that by sending a mouth swab sample to a testing institute, one can know his or her risks of developing various diseases. The biggest issue is the accuracy of such tests.
A genetic testing venture 23andMe, in which Google has invested, has started offering the Personal Genome Service to “provide health reports on 254 diseases and conditions” for slightly less than $100. But the U.S. Food and Drug Administration in November 2013 ordered the company to halt the sales of its saliva collection kit due to concerns over the accuracy of its genetic examinations.
People need to be aware that the results of genetic testing only have a high degree of correlation with the risks for certain diseases. In addition to genes, acquired factors such as diet, smoking, drinking, stress, lack of sleep and lack of exercise are also responsible for some diseases, including cancer.
Users of genetic testing services should know that the discovery in genetic examinations of the presence of irregularities that raise the risk of developing certain diseases does not necessarily mean they will develop them.
So, it is not wise to rely solely on genetic testing. The results of testing may cause some people to be unduly pessimistic about their future. The providers of genetic testing services must be careful when explaining test results to people.
The providers also should handle data on individual examinees’ genes with utmost care because they are personal information. Leakage of such data must be prevented at any cost. There are moves among testing institutes to use data from genetic testing for research purposes. There must be no lapses in the management of data.
The government needs to quickly set down rules to ensure the reliability of commercial genetic testing. At the very least, providers of such services should be required to make clear to users the purpose and limits of tests, their possible disadvantages and the scientific grounds of their clinical usefulness, as well as company policy on handling personal information including genetic data acquired from the test and the relevant information on testing institutes.
DTC Genetics: Pros and Cons
* The ability to obtain personal genetic information quickly and privately without a “prescription”. The information can include disease predisposition and carrier status.
* This ability to make lifestyle changes, such as diet and exercise, based on the testing results.
* Access to interesting information about ancestry. Some DTC companies offer testing services that will determine the presence and percentage of ethnic, geographic and even Neanderthal DNA.
* The relative affordability of DTC testing compared to other forms of genetic testing. Many companies offer services for a few hundred dollars.
The majority of the drawbacks associated with DTC genetic testing stem from the absence of a medical professional that can help an individual understand the results. Many companies have genetic counselors on staff. However, email and phone exchanges are poor substitutes for a face-to-face discussion. Common misunderstandings regarding genetic testing results include:
* An overestimation of the role genetics plays in disease. The amount that genetics contributes to a trait varies, but very few traits and/or disease are controlled strictly be genes. Most traits are also affected by environmental factors and lifestyle choices.
* Difficulty in interpreting a disease risk. Participants must relay on emails and information on a website to understand their disease risk versus the average population risk. Also, the disease risk presented by DTC companies does not include a timeframe. For some diseases the risk remains low until later in life and then goes up incrementally with age.
* Confusion over the methodology. Not all genetic testing is “created equal”. Genetic tests for diseases that are caused by a known single gene defect can predict with more certainty (sometimes 100%) whether or not an individual will be affected by a disease or is a carrier. Often association studies (GWAS) are employed for diseases in which multiple genes contribute, or no specific gene has been identified. The results from GWAS do not have the same degree of certainty as traditional genetic tests.
* A lack of monitoring of the psychological and emotional status of the participant. Some DTC companies offer genetic tests for life-altering, and even terminal, conditions. Participants may feel a wide range of emotions including anger, depression and guilt after receiving difficult news.
* A lack of oversight of the companies. Because DTC genetics companies are relatively new, the government has not yet determined how to best regulate them. Many companies are reputable and offer quality services with reliable results. Other companies make false claims and use faulty practices. It is up to the consumer to distinguish the good from the bad.
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