I’d like you to meet the Lloyd Budwig family. We’re going to be talking about them in a most personal way, so it’s only fair that you should see who we’re talking about. Furthermore, you’ll want to take a good look at Nathaniel, center rear, and see if he looks like his father, Eric left rear. Yes, this is a bit of a soap opera. Lloyd and his lovely wife, Evelyn are seated. This family portrait was taken on Lloyd’s 80th birthday in August of 2011. Other family members include daughter Bonnie, second from left rear, son Rex right rear and Jean, Rex’s wife.
This is the story of a happy ending, but it almost wasn’t. It came very close to being a tragedy. In fact, this is a story of how easy it is to get derailed in interpreting DNA results, and why, when the correct answer is critically important, it’s wise to get an expert opinion on both the results, and what to do next. It’s also the story of the perfect storm, how sometimes the unlikely and improbable happens, in not such a good way. Thankfully, Lloyd Budwig didn’t give up!
I met Dr. Lloyd Budwig several years ago at the Family Tree DNA Administrator’s Conference in Houston, Texas. We sat by each other and visited, and then on the bus on the way back to the airport, Lloyd had a confession to make. I could tell that something was really bothering my friend, and he told me that he suspected that his grandson was not his son’s child. We both cried. OK, I cried. Lloyd’s eyes just watered a bit, probably air quality. Needless to say, on the hotel bus on the way to the airport was not the best time to discuss this, but I think Lloyd had been pondering what to say to me, or to anyone, if anything, all weekend, and it was the proverbial now or never. This happens to me in line at the grocery store too:) I never have the right thing to say.
Truthfully, I was more focused on providing comfort to Lloyd than either the genealogy or the genetics, not to mention I had nothing to look at in the bus, meaning no results or resources, so I took what Lloyd had to say as I would from any other seasoned genealogist/surname administrator, as confirmed.
Lesson One is right here – and for me more than Lloyd – sometimes you’re too close to the situation. Lloyd was, and I should have started as I would have with a novice client, and not accepted any information at face value without confirming. Sometimes, especially with experienced genetic genealogists you might offend them with this approach, although that would not have been the case with Lloyd. We continued our conversations via e-mail after the conference, but then trailed off. My suggestion was that he confide in his wife and discuss the situation with her after the holidays. It was a full year later at the next conference that Lloyd and I again had a chance to chat.
Lloyd has very graciously offered to share his experience. There are lessons here for novices and experienced genetic genealogists alike, not to mention a story with a plot to rival any best-selling mystery. Here is Lloyd’s story in his own words:
“In 2007 I submitted a sample of my grandson, Nathaniel Budwig’s DNA to the Sorenson Molecular Genealogy Foundation for their study. At the same time, I also submitted a sample for my two sons, Rex and Nathaniel’s father, Eric.
Nathaniel was born in 1992 in Great Falls, Montana, while Eric and his wife, Nathaniel’s mother, Chastity, were serving in the Air Force. They both were transferred to Italy where Chastity was killed in a car accident, November 30, 1993 when Nathaniel was about 18 months old. Eric was subsequently transferred back to Vandenberg AFB, California where, my wife and I took care of Nathaniel. I was moral support.”
The slide below shows the original results of all 4 Budwig men, Lloyd, marked as “mine,” Rex, Eric (Nathaniel’s father) and Nathaniel, at Sorenson.
Lloyd saw that the pattern did not match for Nathaniel and mistakenly interpreted this to mean that there was a mismatch. Instead, looking at the legend at the bottom of the page, a “white” or “no color” square means that this marker was either incomplete or not used by Sorenson. We know that Nathaniel’s “white” markers, 389-1&2, 392, 393 and 394/19, are utilized by Sorenson, because they have values for the other men, so the only other alternative is that the DNA sequencing was incomplete for Nathaniel for some reason. Unlike a commercial lab, if your DNA did not sequence entirely, Sorenson did not notify you or ask for a second sample. A “no match” or mismatch would have been dark blue, but Lloyd didn’t realize this. He only saw that the pattern didn’t match.
I’m sure at the point that Lloyd looked at these results, his heart lept into his throat, his pulse rate doubled, and a sense of subdued (or maybe not so subdued) panic set in. I know how I felt when my brother’s DNA results weren’t what I expected. At this point, your ability to think logically flies right out the window. Lloyd would clearly always love Nathaniel no matter what, but this perceived information, and the implications of course, were shocking.
Lesson 2 – If you receive results that are unexpected, or upsetting, ask an expert to take a second look or to help you sort through things. Even with my years of experience, I took this approach with my brother’s results because I was simply too close to the situation at hand.
After seeing these results more than a year later, I desperately wished I had asked Lloyd to review these results and his conclusions at that time. I could have saved him a great deal of anguish. But I did what Lloyd asked me to do at the time, which was to give advice based on a mismatch.
Lloyd continues with his story:
“With my two sons matching exactly at Sorenson, I assumed that Nathaniel was not a match. That bothered me and I really began to avoid any further search along Nathaniel’s DNA.
I fussed and stewed with this knowledge until I talked with you at the conference. There you recommend that I talk with my wife and continue with a FTDNA study. After the holiday season, I did talk with Evelyn, my wife about the DNA mismatch and my concern. Evelyn agreed that I get a sample for Family Tree DNA from Nathaniel. I did so.”
Lloyd’s situation had occurred not long after a similar type of situation where a lab, not Family Tree DNA, had returned some erroneous results and the resulting match/no match flap had hit the press. Because Sorenson was not the type of lab where you could call customer support, as it wasn’t a commercial lab, I felt that if this were my family member, I would want to have them tested at a commercial lab, with customer support, where I could call and ask someone about the results and any questions I might have. Plus, when in doubt, a second test is cheap insurance of accuracy. Nathaniel’s results at Family Tree DNA are shown below.
Notice his very unusual results at marker 464. Instead of the typical 4 values of a-d, he has 6 values, a-f, indicating that a palindromic event has occurred, meaning that at some point in the family line, likely upstream in an ancestor, the cellular copy mechanism stuttered and an extra pair of marker values got copied into the Budwig DNA at this location. This, alone, unless is it common within their haplogroup, is often a very telling sign of a family connection.
How other labs display and count palindromic or multi-copy markers relative to matching is another matter entirely. Looking back at the Sorenson results, you can see that they were at that time only using a few markers and not utilizing 464 at all.
Lesson 3 – Watch for anomalies that may be very important family indicators. Ysearch is a good tool to do this because YSearch allows you to view the actual results of other participants so you can see marker value differences.
Lloyd entered his new results from Family Tree DNA into the Sorenson data base for comparison, above. There are two things to note here. First, Sorenson only provides for 4 values at 464 to be entered, so they obviously do not handle additional marker copies. This means that you have to guess as to which 4 markers to enter. I would have “guessed” 14, 14, 14 15 as the original marker values, because we know there had to be a 14 and a 15 in the original marker values, and only two were duplicated (e and f, with values listed in lowest to highest order), but people with less experience would likely enter the first 4 numbers, all 14s, which is reasonable and what Lloyd did.
Second, and this is important when dealing with any external data base outside of the company you test with. There are multiple lab standards. Lloyd selected, NIST, which is Sorenson’s ISOGG equivalent, but he should have selected Family Tree DNA, because that is the lab where the results he is entering were tested.
Today’s version of that screen on the Sorenson website is shown below.
Why is this important? The reason they are asking you the question is so that they can convert marker values for you. This is a courtesy to you, but if you don’t realize that and don’t answer the question correctly, then the marker values will be converted incorrectly. Generally the two markers at this level that are involved are 442 and GATAH4. Let’s see if that is the case.
Indeed, we can see that is exactly what happened by looking at the dark blue mismatched marker values. We know from Family Tree DNA that this family has a value of 12 at 442, which Lloyd entered correctly, and 10 at GATAH4, which he also entered correctly, but they show as mismatches with the same Budwig men at Sorenson. This is because Sorenson’s lab “counted” differently at these markers. Had Lloyd made the Family Tree DNA lab selection in the dropdown box, the software would have understood how to convert those numbers and they would not have shown as mismatches.
At this point, Lloyd’s mind had already been relieved that Nathaniel did in fact match the Budwig genetic line due to the Family Tree DNA tests, but had be still been uncertain, this mismatch information would have made an already bad situation worse.
Lesson 4 – Be sure when entering information between entities that you have taken into consideration any conversions necessary or that you select your options correctly. Otherwise, you will get “conversion mutations,” but you won’t realize that’s what they are. Note that today Sorenson has a link that says, “What standard should I choose?” which was not available in Lloyd’s previous search. Also, be sure you’ve typed or entered the values correctly. Typos cause “clerical mutations.”
You already know by now that this story has a happy ending. Here are Nathaniel’s matches at Family Tree DNA with other family members.
What does Lloyd have to say about this?
“Thank you for the suggestion. What a relief. It does make one feel much better.”
Indeed, I’m sure Lloyd heaved a huge sigh of relief.
But what Lloyd doesn’t know is how close he came to another hiccup that could have caused him a great deal of heartburn and could have permanently derailed his search, convincing him of an incorrect conclusion.
I asked Lloyd to upload all of the Budwig results to Ysearch. At Ysearch, I selected all of the related men and did a comparative analysis, mostly because I was interested in that 464 marker and it’s 6 values. I’m glad I did.
Take a look at marker 464. This is extremely interesting, because as luck would have it, it appears that the 464 palindromic mutation actually happened between Eric and Nathaniel. I say “appears,” because none of the other Budwig men have markers e and f, and Nathaniel is clearly a family match. If the absence or presence of these markers made a genealogical difference, I would ask Family Tree DNA to reevaluate the actual raw graph readings for this marker for these family members.
So what was the bullet that Lloyd dodged? Genetic distance between two men is typically calculated by subtracting the difference of marker values. Since Nathaniel had two values the other men don’t have, it’s within the realm of possibility that his genetic distance could be calculated at 14+15 or a value of 29, clearly outside of the realm of a match. Now, of course, Family Tree DNA takes care of these math/logic differences, but how other labs/companies would handle this situation is unknown. Family Tree DNA recently made some adjustments in how they handle multi-step mutations in other palindromic markers as well to facilitate “smarter” matching in cases like this where a mutation has recently occurred. It can make a critical difference.
Had Nathaniel not been listed as a match at Family Tree DNA, and without the marker values to view as a comparison, Lloyd, after his Sorenson “mismatch” would have thrown in the towel and decided that Nathaniel was not Eric’s son, when indeed he was.
Keep in mind that the Family Finder wide spectrum chip based test was not yet available when these events originally took place, although today we could have easily utilized these tools, removing any doubt.
What are the chances of all of these oddities and unusual circumstances happening to the same person, creating that almost perfect storm? Well, I suggested that Lloyd go and buy lottery tickets, because he is obviously a very lucky man!
“My summation from this study is that one should be careful in doing direct or maybe even very close family members. Be careful of making assumptions. And use the same laboratory to do the samples.”
Lesson 5 – Lloyd is exactly right about testing close family members. If you aren’t prepared for the truth, whatever it is, don’t test. DNA doesn’t lie, but it can be misinterpreted.
Thank you Lloyd for sharing your family story! I’m so glad it had a happy ending and everyone was smiling in that 2011 photo!