Tag: DNA Testing

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My Experiences in Genetic Genealogy: Part 5 (Issues and Concerns with DNA Testing)

The fifth and final installment of our DNA blog series focuses on issues and concerns with DNA testing to include some reasons why people may not want to pursue DNA testing for themselves.  These are all important discussion topics for a couple of reasons.  First, understanding the issues and concerns makes all of us wise and informed consumers and better practitioners of genetic genealogy.  Second, understanding and accepting the reasons why some people may not want to participate in genetic genealogy will make all of us better ambassadors for our practice/hobby.

Receiving unexpected test results. It happens. People have purchased tests only to discover that they were either adopted or one of their parents (usually the father) was not their biological parent. While rare, these incidents do occur and have happened to some people on my own match list. Some had indications or suspicions this was a possibility prior to testing (which drove their decision to test in the first place), but for others, it came as an utter surprise and shock. The fallout that usually follows is usually catastrophic for the family as one would imagine. While your test results may not impact your own immediate family directly, there have been instances where cousins have found they were not related to one another because neither appeared on the other’s match lists. Personally, while all this would be painful to me in making such a discovery, I would rather know the truth than to live ignorantly with a lie.  If you ask a person to take a DNA test, I believe you have a moral responsibility to explain to them that there is a possibility, regardless of how remote, that they could receive unexpected test results.  If you find such a conversation as unsettling or uncomfortable, then you probably should not ask the person to take the DNA test.

Testing with a new or obscure company.  Commercial DNA testing can be a lucrative business for the companies and investors involved. In addition to the profits collected from the tests themselves, commercial activities may be able to generate additional revenue streams by offering add-on services to their customers.  As a result of this money-making business, new, and often times obscure, companies have entered the DNA testing arena. Testing with obscure companies can be at one’s own peril.

I recall a seasoned genetic genealogist bragging once in a Facebook forum how she had found a new company that accepted transfers of existing test results from established companies such as 23andMe and AncestryDNA. The company claimed to be able to provide more accurate ethnicity results and other features not found among the better known and reputable testing companies. The person immediately uploaded a copy of their AncestryDNA test result to the site. After reading about the person’s discovery of this new company and since the genetic genealogist was considered an expert in the field, several people rushed to follow in her footsteps.

A month later, the seasoned genetic genealogist expressed concerns over the lack of information and transparency available from the company and expressed a desire to delete her DNA file along with her account…but couldn’t find an option to do either! I was taken aback by this entire event because this person was a recognized expert in the field of genetic genealogy. This incident occurred when many of the experts were rushing to be the first to try out new sites and tools and to be the first to report their findings on various forums. Their followers were quick to duplicate their steps…often times blindly and without doing any research themselves about the companies.

The entire episode revealed consumers’ lack of research into the viability and authenticity of commercial DNA companies in general, and more specifically, for the “new kids on the block.” They blindly sent copies of their DNA test results to companies that no one had heard about before (let that sink in for a moment).  The moral of the story is you ARE providing a commercial, profit-oriented company with a sample of your DNA or copy of your test results. You have a personal obligation to yourself, and a moral and ethical responsibility to others who you are asking to test, to verify that the company you are using for the testing process is reputable and has the necessary safeguards in place to protect people’s DNA samples, the test results, and their overall privacy. Be a wise and informed consumer before purchasing a DNA test or transferring existing test results to 3rd parties.

Privacy concerns. I want to emphasize the importance of choosing companies that have safeguards in place to protect your DNA files and your overall privacy. Each of the Big 5 companies (23andMe, Ancestry, FTDNA, MyHeritage, and LivingDNA) have terms of service and privacy policies posted on their respective websites. Their terms and policies explain to consumers how the companies protect their information and privacy and how they plan to use the DNA results (i.e., for research purposes). Many of them require their customers to voluntarily opt into certain services, such as research studies, as a way to further protect their customers’ privacy.  All of their terms of service and privacy policies are available for consumers to read prior to purchasing any tests from them.

Personally, I think the terms and conditions are straight forward and easily accessible for all to read. However, I am still amazed by the number of people who voice concerns on various forums (such as Facebook) about some aspect of a testing company’s terms of service only to be told by other members in the forum that their concerns have long been addressed in a company’s terms of service; terms of service which the person voicing the complaint likely choose NOT to read prior to purchasing the test and providing a DNA sample.

I believe the Big 5 do a good job protecting their customers’ privacy. Most, if not all, require their customers to opt into research projects before the companies can use their customers’ DNA results. If there are any third parties involved with the use of the DNA results, they explain so in the terms of service or in the opt-in features. The companies also do a great job alerting their customers to any updates to the terms and privacy policies. All Big 5 companies provide an option to delete the DNA file and the account itself at any time. To avoid any issues or concerns, I always tell people to read the terms and conditions before purchasing a test or before I order one on their behalf.  If you are comfortable with the privacy policies and terms of service, then by all means proceed with the test purchase; if not, don’t buy a test, let alone provide a testing sample….it truly is that easy.

Misinformation about DNA Testing in Social Media Forums

When genetic genealogist groups first appeared on Facebook, I was ecstatic.  Many were formed by seasoned genetic genealogists who had years of experience with DNA testing themselves.  Some were trained scientists, lawyers, and the like.  They offered tremendous insights into many aspects of DNA testing as well as to how to properly use your results to advance your genealogy research. 

Unfortunately, as these groups grew in popularity and their memberships ballooned, so too did the amount of misinformation published on their discussion boards.  Most of the information was generated by newer, well-intentioned members who lacked experience and understanding with DNA testing themselves.   They were trying to be helpful in offering advice to fellow members, but often times ended up providing inaccurate or incomplete information due to their own inexperience.  Unfortunately, inaccurate and misleading information can adversely impact people’s decision whether to pursue DNA testing and raise unnecessary concerns, such as inaccurate perceptions regarding companies’ privacy policies and practices, that can cause unnecessary panic with users.  I would caution people to only use information about DNA testing from reputable sources and be cautious taking advice from novices.

A Person May Not Want or Need to Take a DNA Test

Genetic genealogists need to realize that some people, even passionate genealogists, may not want to or need to take a DNA test.  While we may want other relatives or suspected relatives to do DNA testing to help our own research requirements, we have to keep in mind that DNA testing is a personal decision and not one that is mandatory for anyone.  While this is not a “traditional” issue or concern, it becomes an issue when requestors unnecessarily hound or bully other people in an attempt to get them to test.  Be respectful of people’s decisions. A person may have a well-researched and very extensive family tree already, so a DNA test may not add much value to their own research efforts, hence why they may not see the need to take a test.  Of course, we see this as an opportunity to verify a relationship with the person and leverage their comprehensive research to help our own efforts, but the person may not see the situation in the same light.  It’s their decision, one we must respect. Keep in mind that I have had people who I had approached for DNA testing initially decline my invitation only to come back over a year later and tell me they changed their mind.  Imagine if I had taken a much different and more aggressive approach that turned them off completely from DNA testing?  When in doubt, run your “recruitment pitch” by someone else to ensure it is properly framed with the right tone.  Remember, be a good representative of our practice/hobby.

DNA testing is NOT required to participate in genealogy. Pretty self-explanatory. Some people may be perfectly content with relying solely on traditional genealogy research methods or may have other relatives who already have tested that precludes any need for them to do so from their perspectives. Regardless, people can participate fully in genealogy without DNA testing.

A genealogist may already have a well-researched family tree. While mentioned briefly above, this topic requires a bit more emphasis.  I know it may be hard to believe, but some family historians and genealogists have built or inherited very accurate and comprehensive family trees without the need for DNA testing Some families may have hired professional researchers to do the work for them. Regardless, they may not see a personal need to do DNA testing, which I can understand from their point of view. However, these are exactly the type of people we need to recruit for DNA testing. Since they have some well-researched and extensive family trees, sometimes dating back hundreds of years, other genealogists like myself could benefit from the peoples’ well researched family trees to overcome our brick walls and extend our own trees further back in time. We can only hope that people with the well-researched and comprehensive family trees recognize that they could help many people’s research efforts by reaching out to them through DNA testing.

Summary

I hope you enjoyed reading the five-part series about my own experiences in genetic genealogy. I hope you also took away some key points along the way. In closing out this series, I would like to emphasize a few key points:

  • Be a ethnical practitioner and a good ambassador of our practice/hobby.
  • Respect people’s wishes, decisions, and limits regarding their participation in genetic genealogy.
  • Always read the terms of service and privacy policies posted by testing companies.
  • Test with only well-established and reputable companies.
  • Always use your DNA test results in conjunction with evidence you have collected through traditional genealogical research methods. Do not base decisions soley on DNA results alone.
  • Don’t allow limitations and frustrations get the best of you; while we all have our fair share of stories about challenges we have experienced, we also have quite a bit of successes too. We need to keep things in perspective and be grateful for what we have and what we have achieved. The future is quite bright for genetic genealogy!
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My Experiences in Genetic Genealogy: Part 4 (A Couple of Common Frustrations We Experience as Genetic Genealogists)

The existing limitations with DNA testing that I discussed in Part 3 of this blog series can cause frustration, to varying degrees, among genetic genealogists.  However, those frustrations are generally caused by a combination of the limitations of the underlying testing technologies, and to a lesser degree, our expectations (which can sometimes be unrealistic) regarding the results we receive from the companies.  There is some good news when it comes to these limitations: 1) testing companies and their industry partners are continuously researching ways to enhance the accuracy and precision of the testing technologies, so some of the limitations we experience today should be either mitigated or resolved in the future; and 2) a bit of self-education can help us manage our own expectations on the results packages we receive from the companies while enhancing our ability to use our test results more effectively. 

The two frustrations I plan to discuss here in Part 4 of this blog series are a bit different in that we generally lack control over the outcomes and outlooks.  Two of the most prominent frustrations expressed by genetic genealogists in various social media forums are 1) the lack of interaction and collaboration with our matches and 2) the quality of our matches’ family trees.  These two frustrations are common and will not be unique to you alone if you do experience them. They are just part of the landscape that we have to navigate through as genetic genealogists. 

Lack of interaction and collaboration with our DNA matches. An often-expressed complaint genetic genealogists tend to share on various forums is the lack of communication they have had with DNA matches. There are several reasons for this issue that I have discovered myself. First, many people conduct DNA testing only to obtain their ethnicity results…..they watch an AncestryDNA commercial, realize they have always been curious about their true ethnic roots, buy a test, receive their results, and never sign back into their account after reviewing the results.  After all, hasn’t this been Ancestry’s emphasis in its marketing campaign over the last several years????

Another reason why some of our matches do not respond to our inquiries is that many people have conducted DNA testing to receive personalized health reports, such as the reports long offered by 23andMe and that other companies are just starting to roll out. When I ask about a match’s family tree on 23andMe, I am often told they have no desire to get involved in genealogy and only purchased the test for the health reports. Ugh.

Third, most of the major companies provide their customers the options to opt into and out of the DNA matching services. One day you may see a match and the next day, he or she has disappeared. They may have opted out of the matching program if this occurs.

Fourth, some people simply lack awareness that the testing sites even have messaging services available! I lost count how many times I received a response to a message I sent to a DNA match 6-18 months earlier! Usually, the person tells me they had no clue a messaging service even existed and they had a pile of messages they needed to wade through in addition to the one I had sent them.

Finally, some of the testing companies offer subscription-based services. Many times, DNA matches will let their subscriptions expire, mostly either due to a lack of personal time and or money to maintain the subscriptions. Thus, a match may not even realize you have sent them a message because they haven’t had a need to check a service they are no longer subscribed to. While some services have setting options that send an alert to a person’s email when a message has been sent by another user, many people either ignore the emails or do not have the settings in place to receive such alerts.

There are some possible solutions to these issues. 

  • One, patiently wait for a response to a message you may have already sent. Again, I have received responses 18 months after sending a message. Whether it was the response I wanted to read is another matter.
  • Two, try to find and contact the match on Facebook, Linkedin, or other social network forums.  This is a common practice for genealogists, so don’t think its “weird” to do so.  Vast majority of people have seemed fine with me reaching out to them through social media. In fact, I have had some VERY positive reactions that made me thankful I took the chance to reach out to them.
  • Three, sometimes a person’s username on a testing service is also the name they use for their email accounts….you just have to guess if they use Apple, Gmail, Yahoo, etc. as their email service provider. 
  • Four, and in line with third recommendation above, I will sometimes conduct an internet search using their username.  While I have only tried this only a couple of times, it has resulted in gaining contact with my matches, one of which who helped break through my brick wall in my Cosgrove line.
  • Fifth, try to find a physical mailing address for your match and mail a traditional letter to the person.  Believe it or not, many genetic genealogists use this technique to reach out to possible relatives they found through their research efforts.  Once contact is made, they will ask this person to take a DNA test to help confirm or add additional data to existing research findings. If we can send a letter to a possible relative, why couldn’t we send a letter to a DNA match? This technique is only successful if you know your match’s name and possible city or town of residence, information that may or may not be listed on their profile at the genealogy website or on a social media site. 

The quality, or lack thereof, of some of our matches’ family trees. There are a variety of issues you may encounter when it comes to our DNA matches’ family trees that can cause significant frustration for genetic genealogists. After all, many genetic genealogists want to connect with DNA matches in order to share information contained in each other’s trees in hopes of breaking through brick walls and extending their family lines further back another generation or two. While this is one of our main goals with DNA testing, there are several problems that many genealogists encounter.

First, some matches do not build and or link their trees to their DNA accounts. For instance, you may have a predicted 3rd or 4th cousin match whose name you are not familiar with at all.  Your knowledge of the shared amount of DNA between you and your match suggests you could share 2nd or 3rd great-grandparents, respectively.  To verify your assumption, you could simply examine the match’s family tree to see if any of your 2nd or 3rd great-grandparents are listed among your match’s ancestors. Unfortunately, if the match doesn’t have a tree or hasn’t made it accessible for public viewing, it may be very difficult to determine how in fact each of you are related to one another.

Another source of frustration with matches’ trees is one I often experience quite a bit myself.  While a fair share of my matches do not have any trees constructed, I have an equal amount of  matches whose trees only contain a very small handful of people (i.e, the match and their parents are the extent of people I find in matches’ trees) or they have it set to private to prevent others from viewing the tree’s contents. In many cases, matches tell me they are hesitant to share their tree with their DNA matches mostly because they are concerned with either relatives’ privacy or with the accuracy of their research.  The first response makes pause and wonder why they did not have any privacy concerns with providing A DNA SAMPLE to a commercial testing company, but won’t give a DNA match (i.e., a likely relative) access to their family tree.  The second response makes you wonder why they wouldn’t want another person to review their tree and help validate their research findings!!!!!!

Third, many of the trees I and others have reviewed tend to contain a plethora of errors because they are poorly researched, if researched at all. It is common to see trees in which their owners have added random families to their trees simply because they share the same surnames in each other’s trees.  I have been told by some of these very people that since they both have a distant ancestor named “Bob Cosgrove” or they simply have a Cosgrove line in their families, they must be related and will simply copy their information over to one another’s trees.  They never consider the facts that 1) numerous Bob Cosgroves have existed over time and 2) not all Cosgrove families are related to one another.  They simply make an assumption and ill-informed decision without conducting any research on how they may (or may not) be related to a DNA match and merge their trees together. Rarely, if ever, do their assumptions and guesses turn out to be correct. 

Most of the time I can identify these errors by looking at the records or other trees they have linked to their ancestors’ profile.  Some common discrepancies I find are: 1) names found in actual records do not match the ancestor’s name on his or her profile; 2) parents were married at the age of 8 and had their first born at the age of 9 (I have seen this obvious error way too many times); 3) countries or years of birth listed on the records were much different than those listed on the ancestor’s profile; 4) residential locations as wildly off from confirmed locations where ancestors actually resided; 5) the ancestors’ parents’, spouses’, and or children’s names found in the trees differed greatly from those listed in the records; and 6) you may find that the same “John Cosgrove” is listed in eight family trees owned by eight different people, but each person lists a different Irish county of birth, a year of birth, or different parents’ names for the same “John Cosgrove” who died in 1890 in the same small town in New York (a recent example I found earlier this month on Ancestry). 

There are a handful of recommendations to overcome challenges with matches’ trees:

  • If you are lucky enough to gain contact with a match whose tree is not publicly available or not linked to their account, ask them kindly if it would be possible for them to share their tree or some of their research with you.  It goes a long way if you are willing to reciprocate yourself.
  • Be willing to help a match if needed. Some matches struggle navigating websites.  As much as I love Ancestry.com, there are a ton of features on the site that can overwhelm inexperienced users very quickly; a fact that experienced users tend to forget.  When I have to write out a 10-step process for a match to change a setting on his or her account, a reasonable person has to ask if the testing companies are making their sites a bit too complicated.
  • When confronted with what appears to be obvious errors in a match’s tree, be kind and courteous how you approach the issue.  I myself have made plenty of unintentional errors in my own research, which have required me to go back and make changes to my own tree.  We are all human and are bound to have an error or two in our own trees.  Try not to come across as insulting to the person and think through a proper and polite way of addressing the issue.
  • Offer to help a match fix their tree.  Some people are very gracious in accepting help from other genealogists, especially people who have little time or have run out of ideas in overcoming problems and challenges in their research. 
  • If you cannot gain contact with a match, but they have a limited tree linked to his or her DNA profile, you may want to try to do your own research on the person’s tree using the limited information available. 
  • If you have shared DNA matches with a particular DNA match and know either how you are related to the shared matches or know the family line they connect to, these clues in themselves may be enough for you to conduct the research needed to determine how you and your match may be related, even if the match does not participate in the research with you. I have had a lot of luck with connecting matches to specific family branches within certain family lines using the knowledge about our shared DNA matches. It can be quite time consuming and challenging, but it can yield great benefits with some patience.

Keep a positive perspective on the situation

We don’t have any control over whether our DNA matches choose to collaborate in shared research with us; respond to our messages; or post and make available accurate family trees.  The best we can do is reach out to them, be cordial, and hope for the best in return.  While I have experienced each of these issues numerous times, I have also had some truly awesome experiences with the matches who I have been able to gain connect with over the years.  They have been absolutely instrumental in helping me break thru various brick walls that have existed for generations in various family lines.  Based on my personal successes and experiences, as well as those of others, I am willing to deal with some of the frustrations discussed above in exchange for the successes I have had and for the great people I have been able to meet.  Ten – twenty set backs are well worth the euphoria for every one of the positive experiences I have had.

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My Experiences in Genetic Genealogy: Part 3 (Limitations with Today’s DNA Testing)

Introduction

In today’s technology-rich society, we often times forget that technology is still imperfect at best. This reality applies to Direct-to-Consumer DNA testing we use for genealogy.  Despite our advancements in DNA testing over the last couple of decades, its underlying technologies are still limited and are continuously evolving.  While many genetic genealogists, especially those who are new to DNA testing, are frustrated with these limitations, there are still ways to work with the results to help inform and advance your genealogy research. Part 3 of this blog series is not meant to scare people away from DNA testing. Its purpose is to help inform your understanding of the current state of DNA testing and to help manage your expectations. The good news is most of the major testing companies are working with their partners in the scientific and technology communities to build better testing equipment. Thus, overtime, many of these limitations will likely be improved upon or outright eliminated.

Here are some of the current limitations that exist with today’s DNA testing

1. Relationship estimates.  As part of your test results, testing companies provide you a list of genetic matches with whom you share DNA.  These genetic matches are people who have also conducted DNA testing with the same company, such as 23andMe or AncestryDNA, or transferred results from one company to another (such as transferring a copy of their AncestryDNA results to Family Tree DNA).  The companies compare your DNA with other customers in their databases.  If you meet their matching thresholds (more on this topic below), then the companies will add you to your matches’ lists and your matches to your list.

Along with the list of genetic matches, the testing companies provide an estimate or prediction of the type of relationship that you have with all of your matches based on the amount of DNA you share with them.  Companies can only provide an estimate of the relationship because it is nearly impossible for companies to state conclusively the exact relationship between two DNA matches for a couple of reasons. 

First, when it comes to autosomal DNA (the type of DNA that AncestryDNA or FTDNA’s Family Finder test), the amount of DNA you share with a match could be indicative for several different types of relationships.  For instance, if you share 25% autosomal DNA with another person, that could indicate either a grandparent-grandchild or aunt/uncle-niece/nephew relationship.  If you share 1% DNA with a match, such an amount could be indicative of around two dozen or more types of relationships (different degrees of cousins essentially).  Y-DNA test results are similar in that companies can only provide a modest estimate of the possible distance two men shared a common paternal ancestor based on the difference (mutations) found in their respective Y-chromosomes.  The estimates for how many generations back the shared paternal ancestor lived can vary significantly.  

Second, DNA testing companies do not know the actual relationships among their customers when testing DNA samples.  They simply see a person’s DNA sample as an individual sample that requires testing.  They are not testing the person’s sample with the view point of “this sample is from X Cosgrove’s first cousin.”  Thus, they do not factor in people’s actual relationships when looking for DNA matches within their databases nor when providing their relationship estimates. Personally, I am absolutely fine with this because I want the objectivity in the reported results based upon the amount of DNA I share with my matches, not on any prior knowledge a company may have about my matches and I.

2. Test results themselves are imperfect. While we have made significant strides in DNA testing technology in recent years, it is still imperfect, especially when analyzing small amounts of DNA shared between two people. There are known false positives in test results, resulting in a company reporting two people as DNA matches when in fact they are not related at all. There are also known instances when a false negative is reported between two people.  A false negative is when the testing company commits an error by either failing to accurately match two genetic relatives with one another or by omitting DNA matches from each other’s match list.  Both false positives and false negatives tend to occur when the shared DNA between the genetic relatives is very low. 

Each company has its own matching threshold that they use to determine when they assess two people to be valid DNA matches with one another. They do this to limit the number of false positives their customers receive. Unfortunately, their efforts to eliminate false positives do result in occasional exclusion of valid DNA matches from your match list. While this frustrates many genetic genealogists, we need to keep in mind that the amount of DNA we share with our excluded matches are relatively small amounts so it is not like companies are omitting parents off of children’s lists or grandchildren off of their grandparents’ lists. You should feel relatively confident that people predicted to be 4th cousins or closer are likely valid genetic relatives, whether or not the predicted or estimated relationships are correct.

Many experts in the field of genetic genealogy suggest that false positives are likely to occur in the 10 centimorgan or lower range among matches (centimorgan is a level of measurement of DNA; 10 centimorgans is a very small amount). Other experts suggest that you should be cautious when analyzing matches that you share as much as 15 centimorgan of DNA. And nearly all experts agree to ignore any matches that you share less than 7 centimorgan of DNA. However, exceptions do exist. I have a couple of distant cousins who I share around 6.5 centimorgan of DNA with who I had documented in my family tree based upon evidence we collected through on our shared genealogy research.  We took our DNA tests a year after I had added them to my family tree. While we appeared on each other’s DNA match lists, the amount of DNA we shared were below most experts’ recommended thresholds. 

Even though I have a couple of valid exceptions to the general rule of ignoring matches below 7-10 cM range, I can state with a high degree of confidence that many of my lower matches are either false positives or so distantly related that it is highly unlikely I will ever be able to prove how we are actually related. 

3. Ethnicity estimates are just that……estimates. The technology does not exist (yet) that can provide a person their exact ethnic breakdown with 100% accuracy. Hence, this is why all of the companies provide ethnic ESTIMATES as part of their autosomal DNA test results packages. Some companies will claim to be more accurate than others, but to me, this is a subjective statement made by those companies for marketing purposes. Since their reference population panels differ from company to company, your ethnicity results will differ if you test with multiple companies. I don’t know of anyone whose estimates are similar from across multiple companies.

It is important to understand that to build their reference population panels, companies had to collect DNA from people who allegedly have deep ancestral roots in those specific areas of the world. Its highly probable that each company used different people to build their own unique reference populations.  For example, 23andMe and AncestryDNA likely used different people to build their reference population for Ireland.  Not only did they recruit different people, they likely recruited people from different parts of Ireland as well.  Thus, the genetic make-up of the people within their respective reference panels are genetically unique and differ enough that your results will also differ between the two companies. 

This becomes critical as many companies attempt to refine the specific geographic locations from which your ancestors originated.  Thus, while 23andMe and Ancestry may both provide estimates on your Irish ethnicity in the same general range as the other (say 23andMe reports 30% and Ancestry reports 50%), they may differ where within Ireland they estimate your ancestral DNA originated based on the composition of their own unique Irish reference panels. In my case, Ancestry reports a significant Ulster DNA signature in my DNA profile whereas 23andMe has suggested I have a more balanced profile from across all of Ireland. In essence, both are actually accurate when you look at where my various Irish family lines originated in Ireland (my paternal grandfather’s Irish lines come from across all parts of Ireland while my paternal grandmother’s lines are mostly Ulster Irish in origins.

4. Our understanding of ethnicity is tainted by today’s world map and population migrations over the centuries. Something that the majority of people overlook is that your ethnicity results are looking REALLY FAR back into the time capsule that your DNA truly is…..over 500 years back in time in fact. There are countless people who have voiced their frustration with their ethnicity results on Facebook forums and blogs. A person may state that their paperwork trail (genealogy speak for research findings) shows they are 100% Irish, but their ethnicity results show 50% Irish, 25% German, and 25% Scandinavian. While there is likely an element of inaccuracy in their ethnicity results as I stated above, what people don’t realize is the real possibility that some of their ancestors may have actually migrated to Ireland long before records were produced and maintained.  Thus, the paperwork trail either no longer exists or never existed that showed their merchant ancestor from Germany decided one day to stay in Dublin as opposed to head back to Germany where he was born and raised.  Or a brief relationship occurred between a transit foreigner with a local person that resulted in a child several months later.  It happened.  A lot.

People have to keep in mind that many of today’s nation-states did not exist 500 years ago……and for those that did, their national boundaries differ today than they did back then. Nationalities didn’t exist in many parts of the world as we know them today. Thus, we tend to look at our ethnicity results through today’s lens as opposed to how the world looked 500+ years ago, which would be more relevant and accurate when analyzing our ethnicity estimates. Wars, famines, epidemics, and economic crises caused millions of people to migrate from their ancestral lands to new lands over the centuries. Plus, people then, as they are today, were curious and adventurous. They may have been traders, adventurers, or soldiers of fortune who fell in love with a new land and decided to stay. All of these events were common in our shared human history, though many genealogists tend to forget about such occurrences and their frequencies, which if they took the time to study the actual history of their ancestral lands, could see a viable explanation in front of them for why their ethnicity results may differ from their “modern” paper trails.

5. Autosomal DNA itself has its limitations. The amount of DNA we inherited from our ancestors decreases by 50% with each passing generation in your tree. For instance, I share 50% of DNA with each of my parents; 25% with each of my grandparents; 12.5% with my great-grandparents, etc. and less than 1% with each of my 5th great-grandparents. I share even less DNA with my distant cousins than I do with the ancestors who we have in common, if I share any DNA with them at all.

As you can see by this brief example, you share less DNA and likely very little to no DNA with distant ancestors the further you go back in your tree. Thus, if you are trying to break through a brick wall involving a set of your 6th or 7th great-grandparents, the odds of you being able to do so by using autosomal DNA test results are low. This limitation is not due to limitations in existing technology; its a limitation due to the biological processes involved in how we humans transmit DNA from parents to children from generation to generation.

Keeping things in perspective

I will leave my readers with a few recommendations to keep in mind to help overcome our known limitations with today’s testing technologies:

  • NEVER make a conclusion on a relationship between two or more people based on your DNA results alone. DNA results provide additional data points that must be used in conjunction with other credible and vetted evidence produced through traditional genealogical research methods. 
  • Recognize that 50% of fourth cousins (cousins who share a pair of 3rd great-grandparents) do not share DNA with one another.  Yes, the actual relationship is not that distant, yet half of fourth cousins will not share DNA with each other.  Having said that, the amount of DNA you could share with a fourth cousin could range from a moderate amount (~100 cM) to very small amounts.  Thus, just because you and a 4th cousin, who you discovered through your genealogy research, do not share DNA does not mean you are not genealogically related or that you made errors in your research.  It just means that you are not genetically related.  Having said that, I would take the time to re-verify your existing research findings and try to find additional evidence to strengthen your conclusion that the two of you are indeed genealogically related.
  • Don’t put too much weight into your ethnicity estimates.  All of the companies periodically update their reference panels in hopes of improving both the accuracy and precision of the ethnicity estimates.  Some people feel the updated results are a better reflection of their known ethnicity while others feel that the newer results are far less accurate than their original results.  Personally, I think there is value in ethnicity results for people who are starting from ground zero, such as adoptees, who may not have any understanding and knowledge about their biological families.  In these cases, the ethnicity results may help the genealogists with little knowledge of their family background to focus their research into certain records collections.  Outside of these cases, I would not invest much time into one’s ethnicity estimate, especially if you have well documented research and comprehensive family histories..
  • Keep in mind that the technology used for DNA testing is constantly evolving for the better.  Some of the limitations that exist today may not exist in 5 to 10 years from now.  Thankfully, many of the companies update their databases and test results and introduce new tools periodically, most of which are free for existing customers. I like to tell people that DNA testing is an investment that continues to generate dividends overtime.  We just need to practice a bit of patience.

Our next blog entry in the series will focus on some of the more common frustrations people experience with DNA testing.

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My Experiences in Genetic Genealogy: Part 2 (The Growth of DNA Testing and Its Benefits to Genealogy)

The Growth in Popularity of DNA Testing in Recent Years

Genealogists’ enthusiasm for DNA testing has exploded over the last five years. When I purchased my first DNA test from Ancestry in January 2015, the company claimed to have just around 1 million people in its DNA database. As of January 2020, Ancestry has around 15 million people in its database and 23andMe has over 10 million people in its database. They are, by far, the largest of the Big 5 testing companies when it comes to autosomal DNA testing (the other companies that make up the Big 5 are MyHeritage, FTDNA, and LivingDNA). We have witnessed steady growth in Y-DNA testing over recent years as well, though the testing numbers are significantly smaller when compared to autosomal DNA testing.

So why have DNA tests’ popularity grown so large and so fast in recent years? You can thank Ancestry and 23andMe for the growth in popularity (my opinion). Both companies have conducted significant marketing campaigns on their DNA tests over the last several years, though the focus of their campaigns have been quite different. Years ago, I can remember Ancestry having advertisements that focused on the genealogy aspect of their website’s services (remember the shaky leaf commercials?). Then, in recent years, Ancestry switched the focus of its advertisements from genealogy to mostly discovering your ethnicity through their DNA tests. While 23andMe has long offered DNA testing for genealogy, it often focuses its advertisements to persuade consumers to purchase the DNA tests that included the personalized health reports, which the company generates based on the customers’ DNA results.

The marketing campaigns have worked well. When I speak to friends and family who have tested, most of them who tested with Ancestry did it simply to discover their ethnicity estimates and those who tested with 23andMe for the health reports……very few of my friends and family did the tests for genealogical purposes. More about this later.

Benefits for DNA Testing for Genealogy

There are several benefits for genealogists to consider when contemplating purchasing a DNA test. While each company offers a slightly different test results package, there are some common components of those packages that benefit genealogists:

DNA Match lists. Regardless of the type of test you purchase (Y-DNA, mitochondrial DNA, or autosomal DNA), the testing company provides you a list of people who share DNA with you that have also tested with that particular company. A testing company will compare your DNA results with other customers who are in their DNA databases. If you meet the company’s matching thresholds for shared DNA, then the company will add the person to your match list and you to that person’s match list. These matches are your genetic relatives. The company will also report how much DNA you share with the person and provide an estimated relationship range (such as a possible 2nd-4th cousin). Obviously, if you share a large amount of DNA with another person, then you and your match descend from a shared ancestor(s) from whom you inherited the DNA from.

Each testing company presents this information in its own unique way. The goal for every genealogist is to have many close DNA matches (optimally 3rd or 4th cousins and closer) who have family trees that are larger than the genealogist’s tree and who have access to information (family records, public records, photographs, etc.) that the genealogist does not or has yet to discover. Finding DNA matches who have this information and who are willing to share it can be a significant benefit for any genealogist who has been struggling to break through a brick wall in his or her research in a particular family line.

Messaging services. Ancestry, MyHeritage, and 23andMe each offers a messaging service in which a genealogist can contact his or her DNA matches. FTDNA allows DNA matches (and only DNA matches) to see each others’ email addresses that they have linked to their respective accounts. LivingDNA is working on a messaging service for its customers so I am told. Being able to effectively communicate with DNA matches enables genealogists to network and collaborate in shared and focused research efforts with the family lines the DNA matches believe they have in common.

Ethnicity estimates. Each of the autosomal DNA testing companies provides its customers with an estimated breakdown of their ethnicity based on the customers’ DNA. Each of the companies has built reference population panels from various regions around the world. Larger companies such as Ancestry and 23andMe have very large and refined reference panels that can help narrow your ethnicity results to specific regions within a country (such as a county or provincial level within Ireland). The smaller companies like FTDNA may provide a more regional focus that covers multiple countries.

For instance, 23andMe and Ancestry have provided some insights to where my Irish ethnicity may have originated within Ireland (their insights do differ a bit from one another), but FTDNA only shows that I have ancestry from the British Isles without a breakdown by country (while FTDNA’s ethnicity results were supposed to have been further refined, the newly released results are still reported at a regional level). While the ethnicity estimates are just estimates and not conclusive (as many people tend to think they are), the ethnicity results do provide some level of insights into where your ancestors may have originated. For genealogists who are starting with very little information about their family histories or for adoptees who have no knowledge about their biological families, these insights may help provide a more narrow focus to their research efforts that they otherwise may not have had without the results.

Tools for analysis. Each company provides some level of tools for analysis and for sub-grouping matches to help a genealogist better visualize, understand, and apply their test results. Some companies have more tools than others, though this is starting to change for the better. Unfortunately, there isn’t one company that offers all of the tools a genealogist needs to conduct comprehensive analysis. Tools are increasing in number and functionality. Coupled with evidence collected through traditional genealogical research methods, the insights the tools do provide can help both the genealogist and the DNA match to identify at least the shared family line they descend from, if not the specific shared ancestral couple.

Future tools and benefits

The Big 5 DTC Genetic Testing Companies are in a continuous state of improving the accuracy of their results (periodic updates to ethnicity results for example) and providing new tools to help you use your existing test results more effectively. As an example, 23andMe recently launched a Beta version of a genetic family tree in which it attempts to use the amount of DNA you share with high matches to estimate your possible relationships to include the specific ancestral couple or ancestor you may both descend from. Similar tools are offered by Ancestry (Thru Lines) and MyHeritage (Theory of Relativity) that estimate how two matches may be related. For the most part, new tools are free and one of the continuing benefits of maintaining an account with your testing company.

Part III in the blog series will focus on current limitations with DNA testing. As always, I look forward to hearing about any benefits that you have gained with DNA testing that may differ from those that I have listed in this posting. Please leave your feedback in the comments section.

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My Experiences in Genetic Genealogy: Part 1 (Introduction)

Why I Started My Journey in Genetic Genealogy.

I am very excited to pen a blog series on genetic genealogy.   Anyone who has interacted with me knows I am a huge advocate of DNA testing for genealogy.   Personally, I have conducted autosomal DNA testing with 23andMe, Ancestry, and LivingDNA and have uploaded a copy of my Ancestry DNA results to Family Tree DNA (FTDNA) and MyHeritage.  In addition, I have conducted a series of Y-DNA tests with FTDNA to include the Big Y-700 test.   Thus, I have direct experience with what many consider to be the Top 5 Direct to Consumer DNA testing companies for genealogy.

I decided to venture into DNA testing early on during my genealogy research because I was having difficulty researching many of my family lines. Generally speaking, I knew very little information about my paternal and maternal lines beyond my grandparents’ generations with the exception of my maternal grandmother’s family who I knew back to her own parents’ generation.  I was lucky in one sense that most of my immigrant ancestors converged in Massachusetts shortly upon their immigration to the United States.  I was lucky because Massachusetts and its many cities and towns have done an exceptional job recording, maintaining, and storing numerous types of records for centuries, most of which are very relevant for genealogy.

While I made great and somewhat fast progress in researching my family lines back to most of my second great-grandparent generations, it didn’t take long for me to hit some significant brick walls across most of those lines, primarily once I came to the ancestors who immigrated to the United States.  The vast majority of my immigrant ancestors only listed their native countries as their places of birth on various records (their marriage records, their children’s birth and baptism records, census records, etc.).  Only a couple of ancestors listed a specific place of birth, which varied from either a name of county or village in their respective homelands.

In hopes of seeking a breakthrough in my research, I read a number of books, blogs, and research guides on how to locate an immigrant ancestor’s place of origin through various research methods.  None of their recommended techniques advanced my research any further than what I already had; for the most part I had already attempted their techniques prior to reading these sources. I came to terms that my research was temporarily stalled (I am a realist, not a pessimist!) and I needed to try different approaches to break through the brick walls.

I eventually turned to DNA testing to supplement my traditional genealogical research. My hope was to gain additional insights and data that I was not finding through traditional research methods.  As with many genealogists who turn to DNA testing, the best result would be to connect with genetic cousins who shared the specific family lines in which I had my brick walls.  Optimally, I hoped to find cousins who had a treasure trove of records, pictures, and personal knowledge about our shared ancestral roots, which would provide me the essential information I needed to extend my family lines further beyond the generations I already had. Realistically, I braced myself for the possibility I wouldn’t have any relevant matches when I initially opened up my results. 

Why was I prepared NOT to have any relevant matches?  Well, when I first tested with AncestryDNA in January 2015, there were only about 1 million people in its matching database compared to the 15 million + today. Most of the people who tested early on were from the United States and there were not many people from Ireland and mainland Europe who had tested at this point. This was a critical point to know because my research indicated that many of my ancestors did not come from particularly large families and only a handful of their own relatives immigrated to the United States or Canada. Thus, I needed to connect with cousins back in my ancestors’ native lands in order to advance my research, not to a second cousin of a common great grandparent who I already knew was born in Massachusetts. So, the odds were low that other descendants from my family lines, native of my ancestral homelands, would have tested at this early stage.

As expected, I only had a small a handful of matches in the estimated 4th cousin range (none closer) when I opened up my test results…..all of whom were from family lines that were not necessarily the main focus of my research efforts at that time.  Nonetheless, my new cousins were very generous with their time and willingness to share pertinent research findings with me that allowed me to add an additional generation or two of ancestors and numerous lines of descent to my tree.  Unfortunately, I did not have any matches for the family lines that were my main reason for testing.  Those matches would take one to three years to materialize.

Overall, despite the slow progress I originally made with my DNA test results, I am very happy that I decided to do DNA testing. I truly have zero regrets about my decision. My personal experience has been very positive and beneficial to my research efforts.  While my successes did not come as fast as I had originally hoped, DNA testing has contributed directly to several important discoveries in my family research to include:

  • connecting me with genetic cousins who were willing to share their research with me, which in turn allowed me to extend several family lines at least one generation further back than my own research would have likely brought me;
  • providing additional evidence, which coupled with evidence I collected through traditional genealogical research methods, enabled me to break through several brick walls and draw irrefutable conclusions; and
  • giving me insights that allowed me to narrow my research focus to both specific geographic regions and to specific families, which together expedited my discovery of much needed records and other sources of information.

My DNA journey was without its share of frustrations. As I will discuss in greater detail in subsequent postings, most of those frustrations were self-inflicted and easily avoidable if I had taken the time to learn about genetic genealogy before diving blindly into the testing process. Ironically for me, I had to repeat some of these painful lessons learned because making the mistakes once was obviously not enough for me to learn my lessons the first time around. In the end, my mistakes eventually made me both a better practitioner of genetic genealogy and reminded me to be patient with people who are just starting out on their own DNA journeys.   

How the Blog Series is Organized

The blog series will consist of six parts (which includes the one you are currently reading).  I wanted to discuss the topics in each part in bite size, easily understood portions.  The series should be viewed as an introduction to DNA testing for genealogy focused more on the benefits, limitations, frustrations, and issues with DNA testing that people should take into account when deciding whether or not to pursue DNA testing for genealogy.  I will undoubtedly write other blog postings in the future on more advanced topics related to genetic genealogy with focus on our surname study and DNA project. The current series will consist of the following postings:

  • Part 1: Introduction
  • Part 2: The Growth of DNA Testing and Benefits to Genealogy Research
  • Part 3: Understanding Current Limitations with DNA Testing
  • Part 4: Common Frustrations We Experience in Genetic Genealogy
  • Part 5: Issues and Concerns with DNA Testing
  • Part 6: Why a Genealogist May Not Want to Do DNA Testing

Final Thought about DNA Testing’s Place in Genealogy

Many novice genetic genealogists are often unclear exactly what DNA testing can do for their genealogy research. For one, DNA testing IS NOT A REPLACEMENT for traditional genealogical research as some people believe. DNA testing is considered a “tool” or method within genealogy and the results that the tests provide are considered to be on par with other genealogy records you would find during your research, such as a baptism or marriage record. As many seasoned genealogists know, one record by itself is insufficient to meet the strict criteria laid out in the the Genealogical Proof Standard to draw a reasonable and credible conclusion.

For example, as we will discuss in Part 3 (Limitations), testing companies can only provide you with estimates on likely or possible relationships you and a match may be based on the amount of DNA you share with one another. Depending on how much DNA you inherit from a particular family line, a 2nd cousin 1 Removed could share as much DNA as a 3rd or 4th Cousin (as I have experienced myself). Theoretically, grandparents share just as much DNA with their grand-children as uncles and aunts share with their nieces and nephews. How do you determine the type of relationship (grandparent-grandchild, uncle-nephew, or 2nd cousin 1x Reomved – 3rd Cousin) without having other credible information to help draw a reasonable and defendible conclusion on the type of relationship?

As you can see by the examples above, it is impossible to predict with DNA alone on exactly how you and a match are actually related. Additional evidence is required, usually a combination of traditional records and additional DNA evidence, to draw a reasonable and credible conclusion. Without such evidence, it is very easy for a genetic genealogists to make errors on placing DNA matches into their trees, to include placing them in the wrong family lines, which I have seen some genealogists do. Our goal is not simply to build the biggest tree we can, it is to build as accurate a tree we can, regardless of its size.

So as you embark along your own journey with genetic genealogy, keep it at the forefront of your thoughts that your DNA test results are meant to supplement and complement your traditional genealogical research……they are not meant to replace it!