Introduction to DNA Testing
In the past decade, personal DNA testing has gone from a niche pursuit to a mainstream fascination. Companies like AncestryDNA, 23andMe, FamilyTreeDNA, and MyHeritage now provide direct-to-consumer DNA testing kits that allow people to access their genetic genealogy and health reports from the comfort of their own homes.
DNA tests look for genetic markers passed down in your family to determine your ancestry composition and identify potential relatives. There are a few main types of DNA tests available to consumers:
Ancestry: Analyzes your autosomal DNA to provide estimates for ethnicity and geographic regions your ancestors were from. Typically includes matches to relatives in the company's database.
Y-DNA: Traces paternal ancestry by testing y-chromosomes passed down the direct male line. Mainly used for genealogy.
mtDNA: Traces maternal ancestry by testing mitochondrial DNA passed down the direct female line. Also used for genealogy.
Health + Traits: Analyze select markers in your DNA to provide information about genetic health risks and wellness-related traits.
The popularity of home DNA testing allows more people to make fascinating discoveries about their family history and genetic makeup. However, it's important go into the process with proper expectations and learn how to fully interpret your results.
Receiving Your DNA Test Kit
Once you order a DNA test kit, it will arrive via mail in an unmarked package for privacy. Inside you'll find everything you need to collect your sample and send it back to the lab for analysis.
The kit will include:
A small tube for collecting your saliva or cheek swab sample
A prepaid return mailer to send your sample to the lab
An ID number for activating your kit online
Instructions on how to collect your sample properly
The first step is to go online and activate your DNA kit using the ID number provided. This links your sample to your online account where you'll eventually access your results. Follow the instructions carefully to activate your kit correctly.
When ready to collect your sample, locate the small tube included in your kit. This is where you will put the saliva or cheek swab sample as directed in the instructions. Make sure not to touch the inside of the tube or lid to avoid contaminating the sample.
Once you've collected your sample, seal the tube and place it in the return mailer to send back for processing. Handle the tube carefully and ship it back promptly for analysis. Within a few weeks, your results will be ready to view online.
Collecting Your DNA Sample
Once your DNA test kit arrives in the mail, you'll need to carefully collect your DNA sample to send back for analysis. This is a simple process, but following the instructions precisely is important for getting accurate results.
The kit will include a small tube for collecting your saliva sample. Make sure not to eat, drink, smoke, or chew gum for 30 minutes before collecting your sample, as this can contaminate the results.
To collect your DNA, simply spit into the marked fill line on the tube. It's important to provide enough saliva to reach the line, usually around 2 milliliters. If you run out of saliva at first, take a break and then try again until reaching the fill line.
After spitting into the tube, make sure to seal it tightly. The kit will include a cap and sleeve to protect the sample. Place the capped tube into the protective bag provided.
Once your sample is securely collected and sealed, complete the rest of the steps to activate your kit and return it to the lab using the pre-paid shipping envelope. Handle your sample with care to avoid contamination during mailing.
The lab will process your saliva and extract DNA once received. With an adequate sample, they'll be able to analyze your unique genetic makeup and ancestry composition.
Waiting for Your Results
After your DNA sample arrives at the lab, it goes through a process to extract and analyze your DNA. The lab will scan your sample to read over 500,000 specific genetic markers that are used to estimate your ancestry and find your DNA matches.
The entire process from when the lab receives your sample to when your results are ready typically takes 6-8 weeks. However, exact timing can vary across testing companies and how busy their lab is.
While you wait impatiently for your results, you can check the status online or via the testing company's mobile app. Companies allow you to create an account with them to monitor the progress. There will be periodic status updates as your sample moves through steps like extraction, DNA analysis, quality review, and report generation. Once the results are ready, you'll be notified by email.
Many test kits come with an expected turnaround time printed on the box. But know that this is just an estimate, not a guarantee. With millions of people undergoing DNA testing, backlogs can occur at labs. Be patient, your unique ancestry and health insights are worth the wait!
Accessing Your Online Results
Once your DNA sample has been processed by the testing company, your results will be accessible through an online account. Here's what to expect when accessing your results for the first time:
Creating Your Online Account
Most companies will send you an email invite to create your online account where you can view your DNA results. You'll need to create a username and password to set up your account. As part of the account creation process, you'll likely need to verify your identity by providing the unique sample ID from your DNA kit.
Once your account is created, you can login anytime to view your results and manage your preferences. Be sure to keep your username and password in a safe place.
Downloading Your DNA Reports
The main report you'll want to access is your Ancestry Composition report, which provides a breakdown of your genetic ethnicity. There are usually options to download this report as a PDF file.
Your account may also include additional reports you can download like relative matches, health reports, and raw DNA data. Having these reports as PDFs makes it easy to save and share as needed.
Sharing Access with Relatives
Most DNA companies give you options to share access to your DNA results with relatives and compare results. You can send an email invite to relatives to view your shared DNA matches.
Relatives must create their own account with the same company in order to accept your invite. Then they can login and view any DNA reports you've chosen to share. This allows you to collaborate with relatives to better understand your shared origins and family connections.
Understanding Ancestry Composition
Your ancestry composition report is one of the most exciting parts of your DNA results. This report estimates your genetic ethnicity and the geographic regions your DNA originates from. It can trace your ancestry back hundreds, or even thousands, of years to reveal where your ancient ancestors lived.
Ancestry composition is based on comparing your DNA to sample populations from different parts of the world. The testing company has a large reference panel database it uses to match your DNA segments to different regions. As the database grows, the estimates tend to become more accurate over time.
However, it's important to understand ancestry composition is still an estimate. The percentages can vary from one company to another. Your results may be clear-cut, showing 100% from one region. Or they may show small percentages from many different parts of the world. Variations are normal due to the inherent uncertainty in ancestry testing.
It's a good idea to compare your ancestry composition report to your paper trail genealogy. Look for consistencies between your documented family history and your genetic ethnicity estimates. For example, if your grandparents emigrated from Ireland, you would expect to see a high percentage of Irish or British ancestry. But you also have to account for population mixing over generations. Your results are a scientific estimate, not an exact record of your family tree.
The most important part of ancestry testing is learning about your origins and making connections to different cultures. While the percentages are fun to analyze, focus more on the journey of self-discovery the results can inspire. Use your ancestry composition to learn about the geographic regions in your background, research the history and traditions of those areas, and embrace the global interconnectedness of humankind.
Interpreting Relative Matches
Once your DNA results are available, you will see a list of people the company has identified as genetic matches with you. These matches help you discover relatives and build out your family tree.
Types of Relative Matches
The level of relationship reported for a match depends on the amount of DNA you share. Common types of matches include:
Close family - Parents, siblings, children typically share around 50% of DNA. These are very close matches.
Grandparents, aunts/uncles, nieces/nephews, half-siblings - Typically 25% shared DNA. Very close family.
1st cousins - Share 12.5% of DNA on average. Strong evidence of family relationship.
2nd cousins - Sharing 3.1% of DNA on average. Possible family relationship.
3rd cousins - Sharing 0.78% of DNA. Possible distant relation.
The percentages aren't exact - the amount of shared DNA follows a range. But they provide guidance for figuring out potential relationships.
Contacting Matches
Once you have your list of matches, you can message them through the testing company's website. Introduce yourself, explain you are a genetic match, and kindly ask if they are willing to share what they know about their family history.
Some matches will not respond, while others may be excited to connect. Respect people's privacy if they decline to engage. Focus your energy on matches that demonstrate interest in your shared history.
Building Your Family Tree
By communicating with your matches, you can begin piecing together your family tree. They may have ancestral names, locations, stories, or documents that fill in gaps.
Start by confirming the relationship - asking specific questions to validate how you might be related based on expected shared DNA. Then seek to exchange additional details that support building out your tree.
With DNA test results and collaboration with genetic matches, you have an opportunity to make exciting discoveries about your ancestors. Patient relationship building is key to progress. Enjoy the journey!
Evaluating Health Reports
Many DNA testing companies provide health reports that give customers insights into their genetic predispositions for certain medical conditions and diseases. These reports can help you better understand potential health risks, but they also have limitations and raise privacy concerns.
The main DNA testing companies that offer health reports are 23andMe, AncestryDNA, and MyHeritage. The reports they provide give percentage chances that you carry variants associated with conditions like Alzheimer's, breast cancer, celiac disease, and Parkinson's. Some even assess your carrier status for genetic disorders.
It's important to understand that these health reports only look at limited markers and can't determine your overall lifetime disease risk. In some cases, the reports only analyze one or two variants associated with a disease when in reality hundreds might play a role. The reports also don't factor in your lifestyle, family history, and environment which all significantly impact disease likelihood.
There are also privacy concerns around health reports. While companies state they won't share your data without your consent, your genetic information could potentially be obtained by insurance companies, employers, law enforcement, or hackers. This could lead to genetic discrimination even if you haven't consented to share your reports.
If you receive concerning health results, it's recommended to speak with your doctor or a genetic counselor to get the reports properly interpreted. They can analyze your specific markers, explain how lifestyle choices play a role, and suggest any appropriate next steps. Don't make major medical decisions solely based on DNA health reports without consulting a professional first.
Though DNA health reports do have limitations, they can help identify potential risks to be mindful of. Just be sure to carefully evaluate the results, consider the privacy risks, and seek guidance from your doctor if you have any concerns.
Considerations for Specific Populations
When reviewing your DNA results, it's important to understand how your ancestry or ethnicity may impact the information you receive. Here are a few key considerations for specific groups:
African Ancestry and Ethnicity Estimates
DNA testing companies have historically struggled to accurately identify ethnic regions within Africa. This is because there is greater genetic diversity across different African populations compared to other ancestral groups.
African Americans may see very broad ethnicity estimates like "African" or "Sub-Saharan African" instead of specific countries. This makes pinpointing your origins difficult.
As databases grow, ethnicity estimates for those with African descent may become more detailed. But wide geographic assignments are still common.
Consider your paper trail research along with your DNA results to get a fuller picture of your African origins.
Ashkenazi Jewish Panels
Most testing companies offer an Ashkenazi Jewish reference panel that compares your DNA to those with ties to Eastern Europe.
These panels can help indicate if you likely have Ashkenazi Jewish ancestry. They may also connect you with distant cousins from this population.
However, these panels do not confirm Jewish heritage on a religious, cultural or ethnic level. Converting to Judaism, for example, would not show up on such a panel.
Adoptees Searching for Relatives
If you were adopted, DNA testing can be a powerful tool to help find biological relatives. This can provide missing information about your family history.
However,Close family members may not always show up in your DNA relative matches. For example, your biological parents may not have tested or may not be findable if they've tested.
Adoptees may need to reach out to multiple matches to find second or third cousins before locating closer relations. So patience and persistence is key.
DNA testing will not provide your original birth certificate or formal adoption records. But it can provide leads to find biological family once you have access to official documents.
Next Steps After Your Results
Once you've received and reviewed your initial DNA test results, there are several options for further exploring your genetic ancestry and health.
Options for Further Testing and Analysis
Consider upgrading to a more extensive DNA test for more detailed ethnicity estimates and advanced relative matching. Many companies offer upgrades like Y-DNA, mtDNA, and autosomal tests for several hundred more genetic markers.
Upload your raw DNA data to third party sites like GEDmatch for additional analysis, cousin matching, and access to more advanced tools.
Test with multiple companies, since each has different reference populations, to get more perspectives on your ancestry composition.
Test older family members, especially parents, grandparents or aunts/uncles, to aid in identifying specific ancestral lines.
Staying Up-To-Date as New Features are Added
Revisit your test results page periodically, as companies frequently update their ethnicity algorithms and health reports with new populations, regions, and health markers.
Check for new relative matches, which can increase over time as more people test. Follow up with promising matches.
Review updated cousin matching clusters, ancestry timelines, and migration patterns as your results are refined.
Joining Group DNA Projects
Joinsurname projects, geographic projects, haplogroup projects, or those for adopted individuals to collaborate with others who may share your ancestry.
Upload your results to international databases like GenBank to aid academic and medical research globally.
Participate in initiatives like Genographic Project by providing additional samples to help further genetic anthropology.
By revisiting your test results, testing additional family, uploading data to third-party sites, and joining group projects, you can maximize the insights and connections you gain from your DNA testing experience over time. Follow new developments and enjoy the journey!
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