Almost every one of us is curious to know more about where we come from. Maybe we heard countless stories about 'the old country' over holiday dinners, but certain questions were always left unanswered. Or maybe we only really know about our parents and grandparents. In any case, when people on TV rave about DNA tests that discover some exotic ancestry or relative, it tweaks our curiosity.
We also might want to know more about any latent diseases we may have inherited from our ancestors. Why not find out? After all, the actual testing sounds simple enough: "order, spit, ship, and wait," as someone once said. But before we go shipping off vials of saliva in the mail, some family dynamics and privacy issues might be worth looking at more closely.
Genetic testing used to be something that was done by researchers in hidden laboratories, unlocking the mysteries of DNA to prevent or cure diseases. It was also used in high-profile divorce or inheritance cases -- and on Jerry Springer -- in the form of DNA paternity tests.Then CSI teams used it for forensics.
It was only natural that one day DNA testing would become available to all of us. And now it is, in the form of Home DNA Kits.Today, for just $100-$200 you too can learn a lot of what is coded in your DNA.
As we get older and face age-related health challenges, it is appealing to think we could get a jumpstart by preventing the development of a disease for which we have a predisposition.We also may have heard about long-lost siblings and relatives being found through DNA testing, and wondered if we had any to be found.
Another big driver is genealogy, which has become such a popular hobby thanks to the ease of internet research. But sometimes the document trail needs assistance from genetic markers to answer stubborn questions that pop up as we build our family trees.
Corporations have made genetic testing very accessible. They have created easy-to-navigate websites where we can order a DNA test based on a vial of saliva or a simple cheek swab. The results are posted confidentially on the company's site, viewed only through the special link the company sends us.
The company that pioneered the Home DNA Kit business at first provided extensive genetic health risk information but was stopped from doing so by the FDA. The FDA recently approved genetic testing by that company for a few diseases, including late-onset Alzheimer's, Parkinson's, celiac disease and seven others. (The FDA reminds us that the tests assess genetic risk for the conditions, but do not diagnose them.) Many other companies are also seeking a way to offer a full battery of results once again.
Meanwhile, companies continue to sell us the ability to decipher our ancestral puzzles, and we continue sending them our DNA samples. With that exchange, they are each building massive genetic databases that are of tremendous value to pharmaceutical and consumer goods manufacturers for product development. The only question is: how comfortable are we doing that?
Hidden in the very fine print of a site's Terms of Service is what the company does with your genetic information, how it is used and how it is protected. You see, that vial you shipped carries with it the full sequence of your DNA, which includes the mutation pattern that makes it uniquely yours.
What we do not know is what will be done in the future with our genetic information. Will it just sit quietly in vaults owned by those companies? Will the Federal Government bring it under the protection of HIPAA, which protects all the rest of our medical information? Or will insurance companies find a way to access it and deny us (and our offspring) life insurance someday because of the risk our DNA implies?
As a tool that promises to unlock the mystery of your genomes, DNA testing provides answers where nothing else can. So, if you are not concerned about sharing the details of your DNA in the process, DNA testing can bring a wide range of benefits. For example, it is valuable for:
- Giving us indications of predispositions for certain health conditions, especially those we can avoid by making some life changes;
- Proudly learning our ethnicity, discovering what our ethnic origins are going back 500-1,000 years;
- Putting lifelong family rumors to rest by getting clarity on who was born to whom;
- Leaving a clear legacy for our children and our children's children while we still can (as we wish others had done for us);
- Connecting with others who are working on the same family lines, which avoids duplicate work;
- Establishing or denying rights to a contested inheritance through a legal DNA paternity test; or
- Identifying a biological child you may have given up for adoption, but who has reached back looking for you.
Ordering a DNA test is no different from any other purchase we make: we want ease. Yes, we want to know the cost, either one-time or ongoing. However, we also want to know about warranties and how easy it is to use the service. Also, whether we can cancel, how hard canceling is and how accessible the company's customer support will be when we need help.
Beyond that, we want to know the details of what we are buying: what kind of sample is needed and what sequencing chip the company uses. Then, whether they provide ancestral composition and cousin-matching reports. The size of the company's database is important, as is the average time we will wait to get results. And lastly, whether or not we can get access to our raw DNA file so we can use it in other applications, or with a genetic counselor who can help us decipher it.
The world of genomic technology is growing at a rapid pace. In the past ten years, a few companies pioneered the direct-to-consumer industry,and some have become household names. But many, many more have sprung up, often with attractive marketing, but with limited infrastructure to support them.
Here are some things to look for as you assess how good a DNA-testing company might be.
The website should give a clear description of what their DNA test will tell you and what method they will use to obtain the information. It should clearly list CLIA and CAP numbers on the website. These are industry accreditation programs. While being certified or accredited is not a guarantee, it does prove they use a lab with qualified staff and lab techniques that meet baseline standards.
Ideally, their website should name the company's principal employees and their credentials. (Too few geneticists and too many marketers might be a red flag.)
Then, how large is its database? Particularly for genealogical research, the larger the database, the more relevant your results will be. Also, is it primarily U.S.-focused or does it have considerable international participation? Depending on where your ancestors come from, that could determine how many matches you find.
Besides price and performance, privacy is key. Dig into the fine print about how your health, genetic and other sensitive information will be shared, if at all. Decide how public or private you want your information to be on the site. Especially in cases of genealogy, that will determine how much you get back from other family-tree builders using the site. Does the company make potential matches? Does it share email addresses with those matches? Are personal profiles visible? A site's automatic settings are probably the least private, so be sure to change them to fit your comfort level.
Then, remember how much hacking there is of your financially sensitive information -- through banks, credit agencies and big retailers, for starters. Any online service is vulnerable, as you know. So, before you order, how would you feel if your genetic information was hacked?
In short, before ordering a Home DNA Kit, you owe it to yourself, as well as to any family members who might be affected, to do your homework.
Two areas differentiate what seniors prioritize from what others do when ordering a service: age-friendliness and health-related value.
Most of the activity in ordering a DNA test is automated once you have paid and submitted a sample. Therefore, age-friendliness is limited to how easy the company website is to navigate, how understandable its reports are and how accessible its customer support team is if you need assistance. Young or old, you might want someone to help you interpret what you get as results, so websites that offer the services of a genetics counselor could be beneficial.
As for health-related value, if a DNA test can alert you to predispositions to certain conditions while you are still healthy, you might be able to avert them by changes in diet and lifestyle. Even as health declines, there could be information in your DNA -- including in the raw data that most companies make available -- that could be useful to your doctor as you manage your health.
If you have always wanted to pass your DNA information on to younger generations, one important consideration is this: many medications you take could cause dry mouth. The further the condition develops, the harder it is to capture a good sample of saliva to perform the test.
Fees for DNA testing take two forms. First, there is the basic cost of the test itself, and each company tends to have multiple offerings. Test fees can run from about $79 to $199, with some going to $359. (Usually, the more genetic markers analyzed by a test, the more expensive the testing fee.) The company typically sends you an envelope with the materials for gathering a sample, whether saliva or a cheek swab. Some return envelopes come prepaid; in other cases, you pay to mail it back.
The second fee is when a site offers an ongoing membership. In a few cases, membership is needed to take full advantage of the results of your study. In others, membership is related to community-building for those doing genealogical work. It provides an added opportunity to share ancestral finds, or for members to help one another with the process.
Initial evaluation criteria in ordering DNA testing include price, warranties, ease of use, cancellation details and customer support.
Price: The price of a DNA test depends on its complexity and how many markers are analyzed. Prices have come down dramatically in recent years. Today you can get a robust genealogical test run for as little as $79.
Warranty: Because the DNA testing process is sensitive to the quality of the DNA in the sample, in some cases a company may provide an additional test kit to re-do the DNA sampling procedure for free.
Ease of use: Ease of use reflects an easy-to-navigate website, a simple payment process, an uncomplicated sample-gathering process, (ideally) a prepaid return mailer and easy access to test results on the company's website.
Cancellation: If you choose to cancel a test, a company's decision on whether or not to refund the money you paid will depend on where in the process you are. If the test kit has not yet been shipped back, a refund might be granted. If the test has been received or processed, a refund is unlikely.
Customer support: Regardless what reason you have for requesting support, you want several methods available for accessing that support; email and telephone are the minimum. Is there a live chat? Or a help desk? And how long do they take to respond to inquiries?All of that goes into a well-designed support service.
There are three types of DNA tests for genealogy usage:
(1) autosomal tests, which cover the DNA you inherit from all your ancestors, both male and female;
(2) yDNA tests that look at the Y-chromosome found only in men and that reflect the direct Paternal line; and
(3) mtDNA tests using Mitochondrial DNA passed on by mothers to male and female offspring, but that reflect the Maternal line.
For someone just entering the world of genealogy, the autosomal-type test is the place to start.
Beyond basic first tests, DNA testing can quickly become quite complex. Soon you want to know what type of sample is used, what sequencing chip the company uses, what reports are provided, the magnitude of the sample base, how quickly they will provide results (usually 6-8 weeks) and if you can download a copy of your raw DNA file for future use.
The genealogical community has moved from the exhausting physical research of documents in musty libraries to accessing massive online databases from the comfort of your home. The community has embraced DNA testing as a complement to the online tools used to build family trees going back through the generations. If genealogy is one of your passions, then the various types of DNA testing are vital.
However, if you just want to know if you are mostly German or mostly Irish, a simple Home DNA Kit will give you far more information than you will ever need.