Today, if you want a DNA test to determine your risk for certain illnesses such as Alzheimer’s or breast cancer, you have several options open to you. You can visit one of the many medical centers that offer DNA testing. Depending on exactly why you want the test, costs can range from a few hundred dollars to thousands of dollars. This is not counting the time and cost of going to a genetic counselor to get the results translated.
Another option is to use the services of direct-to-consumer DNA testing companies. You need to just provide a saliva sample for analysis. They do all the testing and interpretation. Or you might decide to go the way of DIY DNA testing.
An increasingly large number of people are opting to ditch the traditional medical DNA testing in favor of a do-it-yourself procedure. Not only are people using these DNA tests to determine their predispositions to certain diseases, they are also using them to uncover their ancestry or determine paternity.
The price is a major draw to people. For example, a DNA tests from Ancestry.com costs only $99 compared to the hundreds or thousands of dollars one would normally pay for such a test. Numerous services have come up to offer these kinds of quick and affordable DNA tests including 23andme.com and Ancestry.com. You simply send in a sample, it is analyzed and the results are emailed to you or you can access them from the website.
Whether obtained through DIY testing or a medical test, your genetic tests results carry a lot of information. Health wise, you can learn whether you carry specific genes that increases the risk of certain diseases.
Angelina Jolie, the famous actress, had a blood test done to determine if she carried a BRCA gene, which portends a greater risk of breast and ovarian cancer in women. This led to a double mastectomy after it was discovered that she had a faulty BRCA1 gene. She later also got her fallopian tubes and ovaries removed.
Another crucial gene that can be checked for using DNA testing is BRCA2, which shows susceptibility for breast cancer type 2. DNA testing can also reveal susceptibility to other diseases like Alzheimer’s, diabetes, heart attack and depression.
If not for health reasons, people also turn to DNA testing to determine their ancestry (geneology testing) or show paternity.
Interpretation of Results
One caveat of DIY DNA testing is that it only provides the raw results and not an analysis of it. If you have ever looked at a DNA test report, you would understand why genetic counselors exist. Unless you have a medical background, it is impossible to get any useful insights from your test.
To fill this gap, interpretation only services have emerged to complement DIY DNA testing providers. So once you receive your raw DNA tests results, you just upload them to one of these sites and get back information you can actually use.
The most famous of these DNA data interpretation sites is Promethease and another is LiveWello. LiveWello charges $20 while Promethease is free but suggests a $5 donation.
Currently, these sites enjoy very little scrutiny from the FDA (unlike DNA testing companies, which cannot give medical analysis) and are quite cheap. This has boosted their popularity with Promethease reporting up to 500 gene reports generated each day.
Altenatively, you can use various digital tools to interpret the heath DNA test results on your own. Examples of such tools include 23++ (a Google Chrome extension), GedMatch and OpenSNP.
As expected, not everyone is excited about the rise of DIY DNA testing. Medical professionals are perhaps the most concerned. While DIY testing provides important genetic information and interpretation tools help decode this information, what matters most is what the individual does in the end.
Medical professionals are concerned that people experience undue anxiety about their health resulting in unnecessary tests. For example, a DNA tests that shows one has twice the risk of cervical cancer may cause panic but in reality, it is not that bad. The US cervical cancer rate is around 7.4 in a hundred thousand women per year. Twice that and it comes to around 1 in 6,750 women per year. Basically, the preventive measures taken by someone with normal risk are the same for someone with twice the risk. The needless anxiety can be damaging.
Experts advice caution when using these new services and recommend that one still try to see a genetic counselor for a professional take on their results.