If my genealogy research is solid, how could my DNA results be wrong?

At seminar talks and on her blog, Judy G. Russell, the Legal Genealogist, suggests taking autosomal DNA tests at more than one company because each company presents data in different ways—and, more importantly, you expand your pool of potential cousins. Having tested at FamilyTreeDNA and 23andMe, I decided to follow Judy’s advice and try AncestryDNA.

And what I found shocked me.

I expected to find an autosomal DNA match with Ruby, my longtime conspirator in tracking down our Gibson ancestors. For 18+ years, we’ve been email buddies, sharing research and debating potential candidates for our family trees. Our mutual tenacity and our databases proved we were fifth cousins, so why didn't the DNA agree?

Matchmaker, Matchmaker, Find Me a Match

On AncestryDNA, I found cousins from my FamilyTreeDNA and 23andMe match lists, but no Ruby. (She didn’t test with the other two companies.) With my 5,000+ hits, you’d think one speck of spit would have declared our relationship. But it looked like we were swimming in different pools.

Luckily, AncestryDNA lets us share DNA results even with someone not on our match lists. (From the AncestryDNA home page, click on the Settings button on the right and scroll down to the green button, Invite Others to Access DNA Results.)

After opening AncestryDNA results pages for both of us, I filtered my search for any Gibson born in Massachusetts. We both had four hits, but none of the same. Figures.

This required diving deeper. I checked the family trees of all four of my cousin matches with my genealogy database. Two of them definitely were from my Gibson line, though the other two may be a new Gibson lead or unknown matches with another surname. Then I repeated the same checks with Ruby’s matches and my database. Her results showed one person shared a direct ancestor with Ruby and me; two had the granddaughter of our direct ancestors; and one matched one of Ruby’s collateral lines, but the Gibson surname was a red herring.

This case proves Judy Russell’s other important suggestion: The more relatives you test, the more matches you'll find. That’s because you won’t share the same genetic admixture with your nearest and dearest. If possible, have as many close relatives (grandparents, parents, aunts, uncles, siblings, children, etc.) take autosomal DNA tests to spread your nets wider to catch more cousins.



Related Stories:

• DNA testing for genealogists 
• Combining genealogy with genetic research

Some DNA Blogs:

• The Genetic Genealogist by Blaine Bettinger
• Your Genetic Genealogist by CeCe Moore
• DNAeXplained – Genetic Genealogy by Roberta Estes
• The Legal Genealogist by Judy G. Russell

Sharing your family health history at the doctor’s office

Yassine Mrabet, Wikimedia Commons under public domain

When you’re collecting your genealogy information, it’s also important to learn your family’s health histories. Your doctor can use that data to uncover hereditary health problems and how they may affect you and your family.

To start, you want to create health portraits for yourself, your children, siblings, parents, grandparents, aunts, uncles, and cousins. Some of the basic data you should collect include: ethnic and racial background; major illnesses and chronic health problems; surgeries and hospitalizations; medications, immunizations; lifestyle habits (diet, weight, exercise, smoking and other addictions); emotional and behavioral problems; and cause of death. It’s also important to add birth and death dates as well as age at onset or diagnosis for each health event.

Some genealogy software programs track medical conditions and DNA results, such as Legacy Family Tree, RootsMagic, and Family Tree Maker. In addition, you can use:

• Cleveland Clinic’s Health & Your Family Tree, a simple form to fill out for members of your family
• The Surgeon General’s My Family Health Portrait tool
• Genetic Alliance’s Does It Run In the Family tool
• GenoPro, a family tree software program that specializes in medical history and genograms. Instead of basic pedigree charts, GenoPro creates genograms, with detailed health histories, emotional relationships, social relationships, even household configurations. For fun, check out Harry Potter’s tree, based on the J.K. Rowling book series.

Combining genealogy with genetic research

Courtesy of Jcmorin

Sitting down with a genetic counselor is much like speaking to a genealogist with a medical degree. After all, a genetic counselor works  with charts that resemble pedigrees and family trees, though without names, just squares for males and circles for females, with lines connecting relationships. Genetic counselors can help map out the likelihood of being a carrier or being infected by certain inherited traits and diseases.

In much the same way, DNA research has shown specific markers carry a higher probability of certain inherited diseases. For example, actress Angelina Jolie learned she had the BRCA1 gene, making her at high risk for breast and ovarian cancer. Coupled with her family’s history of cancer, Jolie opted for a preventive double mastectomy. (See "My Medical Choice," New York Times, 14 May 2013.)

In another case, Janine Jagger, Professor of Medicine at the University of Virginia, had several years of abdominal pain and fevers with no known cause. Another doctor suggested she could have familial Mediterranean fever (FMF), which is typically found in people of Middle Eastern descent—though none appear on Jagger's known family tree. Oddly enough, she discovered in an old newspaper that one of her ancestors, Captain William Smith Young (b. 1829), was "attacked with fever and ague to which he is subject." He was a steamboat captain of the ill-fated Narragansett, which hit another steamboat in 1880. The crash, which made front-page news across the country, caused the deaths of 50 passengers. During the formal inquiry, the captain's testimony was reported verbatim in the New York Times, including the passage that he was unable to attend a court appearance due to symptoms similar to Jagger's. Since finding the newspaper account, she has connected to other Young descendants and found a pattern of FMF. (See "All I Want for Ramadan Is My Own Mutation," Huffington Post, 8 November 2013.)

So, when you’re typing data into your genealogy database, don’t overlook the medical fields such as cause of death, hospitalization, or illness. Seeing patterns recorded in death certificates, medical reports, and obituaries or having first-hand knowledge or hearing family stories of a medical nature may increase your awareness of risk factors and prevention for possible diseases, such as certain cancers, heart disease, substance abuse, diabetes, and depression.

You may not need a genetic counselor, but if you're like me, you'll bring your family tree charts to your doctor to discuss your deep medical history. Genealogy not only keeps your mind busy, it can help you live longer and better.

DNA testing for genealogists

In the last decade or so, genealogists have turned to the study of DNA to help trace their family trees or resolve conflicting (or missing) information. Currently, there are three DNA tests that people most often use for genealogy. Y-DNA tests are only available for males, since the Y-DNA takes us down the surname path from our father’s father’s father and so on. mtDNA tests work for both males and females, as mtDNA travels back from our mother’s mother’s mother. Autosomal DNA tests skip the X and Y chromosomes entirely and rely on the other 22 pairs of autosomes. This last test is not as predictable in that you can't follow a surname or maternal line into the past, but you can learn about your ancestral origins.

Three companies in the United States are well known for their genealogical DNA testing. Founded in 1999, FamilyTreeDNA is known for its surname, lineage, and geographical projects. Started in 2006, 23andme focuses on health-related genetic portraits and ancestry data. AncestryDNA is a relative newcomer to the scene, but as part of Ancestry.com, one of the largest online genealogy companies, it has the potential to grow rapidly because of its large subscriber base and its sponsorship of the popular TV show, Who Do You Think You Are? (TLC network). 

In a recent Weekly Genealogist Survey by the New England Historic Genealogical Society (NEHGS), 50 percent of respondents used FamilyTreeDNA for genealogical DNA testing, while 43 percent used AncestryDNA and 16 percent used 23andme. (The 2,855 people who took the survey could select more than one company.) At the Massachusetts Genealogical Council annual seminar in July 2013, speaker Judy G. Russell, The Legal Genealogist, suggested to me to transfer results from one company to the other two to get the most cousin connections. 

Patience is critical for genealogists who have taken DNA tests. After all, 52 percent of the 4,400 people who took another weekly survey by NEHGS have not had their DNA tested. That makes it difficult to find your closest (unknown) relatives through genetics. But some genealogists have taken more than one DNA test, with 28 percent testing their own or a male relative's Y-DNA; 26 percent testing their own mtDNA; and 25 percent had an autosomal test.

So test yourself, and then ask your relatives and potential cousins to test their DNA too.

DNA USA paints a genetic picture but misses its mark

Bryan Sykes, DNA USA: A Genetic Portrait of America (New York: Liveright Publishing Co., 2012)

In the last 10 years or so, genealogists have studied the mysteries of DNA and its potential for furthering family research. Collected from males, Y-DNA takes us down the surname path from our father’s father’s father and so on, while mtDNA travels back from our mother’s mother’s mother. 

In DNA USA, Bryan Sykes has a new test, the chromosome paintings or profiles done by the personal genome company, 23andMe. Instead of using the X and Y chromosomes, this test splits the 22 pairs of autosomes in half, separating the two copies of each chromosome, and then highlighting which DNA segments correspond to one of three continental origins (Europe, Africa, Asia). The results can be further analyzed by marking 146 genes on the chromosome portrait to show which continental origins contributed to 11 different body systems (such as pigmentation, eyes, digestion, and immune system).

In three months, Sykes tours cross-country, stopping here and there to interview people working in the field of genetics, such as Bennett Greenspan of FamilyTreeDNA and Dr. Rick Kittles of African Ancestry. The interviews are often on-target to probe deeper into a subject, such as Ashkenazi DNA, but it does seem to be a balancing act so the book wouldn’t sound like an advertisement for 23andMe. (Sykes, a professor of human genetics at Oxford University, also founded his own commercial company, Oxford Ancestors, as an offshoot of private genome research.)

His travelogue, peppered with American movie references, takes him from Boston to Chicago, Denver, Salt Lake City, and San Francisco by train, with a few side trips along the way. Although he writes like a great adventurer, his route is not as random as it sounds. He has specific goals and stories to tell in his book, and his travels correspond to them. However, Sykes chooses to bypass the Southeastern states because he was able to pick up DNA samples from two African-American women from Atlanta at a hotel convention in California. Later, though, he regrets not being able to sample DNA from a Ku Klux Klan member to reiterate his point that many European Americans from the South show traces of African DNA.

The Faces of DNA

On his excursions, Sykes collects DNA samples from 25 individuals. Yes, out of 316 million people (U.S. Census Bureau) living in the 3.7 million miles that make up the United States, Sykes chose only 25 people for his genetic portrait, saying that to do more would be ridiculously expensive. And so, he chose to backfill our genetic story with previous research, both his own as well as others in the field. After all, America is the melting pot, a cross-section of the continents. Sykes already covered Europe in the bestselling The Seven Daughters of Eve (2001) and, more specifically, the British in Saxons, Vikings, and Celts (2007). When he rehashes his previous books, Sykes is not as engaged in the storyline and tends to add more travelogue and movie references. But with new material, particularly the chapters on the Jews and the Africans, his interest is piqued again and it shows.

America's story starts with Native Americans. Due to other scientists' prior unsanctioned medical research and the legal backlash that followed, however, Sykes avoids collecting DNA from them. He relies on earlier research, shored up with his Polynesian studies. When he travels to tribal lands, Sykes judiciously leaves his DNA kits behind, knowing the scientist in him could overwhelm common courtesy. In the book, he acknowledges the spiritual beliefs of the Native American creation stories and at the same time, he wants to prove their genetic profiles tell a different story.

Finding an Audience

Like his other books, DNA USA is written not for the scientific community but for a popular audience—including genealogists, some of whom are featured in the book. These genealogists prepared ancestral charts, told detailed stories of their forebears, and provided DNA for Sykes to analyze. He admits “not being a genealogist” (p. 75), though “the speed and enthusiasm with which the American genealogy community has embraced genetics has been truly astounding” (p. 72).  

So, if DNA USA was written for a focus group, it is the American genealogist. That’s why it’s disconcerting that throughout the book Sykes repeatedly refers to the New England Historic Genealogical Society (NEHGS) by the wrong name. Although this may seem a trivial point, the mistake suggests potentially sloppy research and fact-checking in other parts of the book. (DNA USA could have used more proofreading to pick up other typographical errors as well.) In addition, there are no footnotes or a bibliography—another pet peeve of genealogists.

However, thumbing through the chromosome paintings and recognizing faces from the DNA volunteers—with their high-level pedigree-researching skills—prove how fascinating and potentially useful genetic testing is for genealogy.