Ancestry DNA Testing: The Many Paths It Uncovers
Lea la versión en español aquí.
Hispanic Heritage Month reminds us that although one word – Hispanic – can be used to unite individuals, the word cannot describe the multiple paths trodden by the ancestors of those who identify as Hispanic today. National Society of Genetic Counselor’s (NSGC’s) Personalized Medicine Expert Erica Ramos and Cardiovascular Genetics Expert Ana Morales, both NSGC Spanish-language experts, learned this through ancestry testing. Their similar, yet unique stories as told below help us see that the goals, desires, and outcomes two different people might be seeking from DNA testing are rarely the same, and often uncover surprising information. NSGC Ancestry Expert Brianne Kirkpatrick comments on the experiences of Ana and Erica, as well as how their experiences compare to the general public’s when taking genetic tests.
I’ve had an interest in family genealogy for as long as I’ve been a genetic counselor, and when my research hit a dead end, I turned to ancestry genetic testing. I wanted a breakdown of the main ethnicities represented among Puerto Ricans: Native Taíno, Spanish and African. I also wanted to uncover information that might help explore my grandma’s story about a French ancestor in her family.
As a genetic counselor, I often provide guidance to people considering genetic testing to learn more about their health and family history. Suddenly, here I was needing to take my own advice. Before I agreed to the ancestry test online, I had to balance the itch to mindlessly click through the consent form with my responsibility to make an informed decision. The process required self-discipline and knowing what to ask regarding privacy, sharing and future use of my sample.
I moved forward with the test, and could have never guessed my results. The next time I’m asked, “Where are you from?” answering “from Puerto Rico” will sound incomplete.
I learned I’m 71.5% European, mostly Iberian (Spanish and Portuguese) ancestry, followed by Italian, British/Irish, Ashkenazi Jewish, Scandinavian, and broadly Southern/Northwestern European ancestry. Months later I learned that my results changed to 70.7% European, with British/Irish ancestry no longer there along with more granular data on other ancestry results. Ignoring for a moment the ever-evolving nature of ancestry testing, I suddenly had a lot of questions. Could my Italian result reflect Corsican immigration to Puerto Rico? Do I have a Jewish converso ancestor? Should I pursue genetic testing for conditions primarily affecting non-Hispanic populations? Was my grandma right about her French ancestry? Embracing the ever-evolving nature of ancestry testing, I thought, “Are my results right?”
This Hispanic Heritage Month, I celebrate my newly widened ancestry. Now I’m looking for more family stories that shape who I am, things that cannot be found in DNA. I may never be able to say I am mainly European, or even that I am from Puerto Rico without feeling that’s too short an answer, but it’s like the Spanish song goes: I am Boricua even if born on the moon.
Unlike Ana, I wasn’t thinking much about ancestry when I got my genetic test back in 2010. I was more curious about the other things that might come up when looking at my genetic information. I thought that my ancestry report would be pretty straightforward.
But like Ana, I did get some interesting and surprising results – although it took me years to learn what my results really meant. And those results gave me a greater understanding of generations of my family history than I ever expected.
My father’s family is from Mexico – specifically from a small mountain town in the Costa Chica in Guerrero. My grandmother moved her children to Acapulco in the early 1960s, so that was the hometown in Mexico that I knew. My parents divorced when I was young and I grew up in the U.S., but my mother was always more at home in Mexico than anywhere and always part of the Ramos Añorve family. So, while I was lucky to spend a lot of holidays and summer breaks with my amazing family, I didn’t know much about my family’s roots before my grandparents’ generation.
My ancestry results reported that I was about 20% Native American/East Asian (later updated to ~15% native Mexican and ~5% “broadly” Native American/East Asian), about 17% European from my paternal side and about 11% African! Well, my (very wrong) guess was that the African ancestry came from the Moors invading Spain. If I had thought about it a bit more, I would have realized that a Moorish invasion 1,300 years ago probably didn’t work out to an African ancestry that was almost equal to my Mexican ancestry.
Then, about two years ago, I was in Acapulco celebrating my grandmother’s 85th birthday.
An uncle and I started chatting about my job and he told me that he was interested in doing one of the ancestry DNA tests. I excitedly pulled out my laptop and showed him my ancestry results, commenting on how surprised I was to see the African ancestry.
That’s when he told me that the family believed my grandmother’s grandmother was mostly African. Enslaved Africans were brought to Mexico in the 1500s and 1600s, and when they escaped captivity, they would hide in the remote mountains of Costa Chica. I’ve since learned that the Afro-Mexican population in the Costa Chica is the largest and last in Mexico.
Although the history is fascinating, it was an incredible gift to learn more about my family’s roots and connect with my ancestors in a way that I hadn’t before. And it turned into a long conversation with my grandmother and others about my family’s history and experiences that I’ll never forget.
As NSGC’s Ancestry Expert, I am thrilled to see genetic counselors exploring their roots and sharing their experiences of DNA testing for ancestry purposes. Erica’s DNA test stimulated conversations with an uncle that taught her more about the history of the mountains of Costa Chica where her ancestors once lived. Ana’s results led her to ponder the various waves of migration to the Americas from parts of Europe and what stories might be in her family’s past she didn’t know a thing about. Such is genetic testing: sometimes it answers our questions, and sometimes it creates a path ahead for us to continue to explore.
When we order DNA testing for medical purposes, it is most powerful when combined with family medical history. The same is true for DNA ordered for ancestry. Test results can spur revelations about a family’s history, and it can lead to discussions within a family that reveal a deeper story. The DNA results are most helpful and useful when viewed together with family stories, documents, and other sources of genealogical information.
Some people are surprised by their ancestry results as Ana and Erica were, and some are not. We won’t all receive an ethnicity chart that changes our understanding of who we are, but a DNA test can open the door to more discussions. Our assignment to certain ethnic groups isn’t set in stone. For example, Ana wrote about her discovery that her ethnicity percentages changed over the course of a few months. These moving percentages happen often as test companies gather more data and change the way they analyze and assign certain genetic markers to ethnic groups.
In a genetic counselor’s dream scenario, people use the discussions about family history and ethnicity to encourage other family to open up about medical history. The questions to follow might be things such as, “How old was Uncle Charles when he developed colon cancer?” Or “Could you tell me more about all the young people who had heart attacks in Abuelito’s family?”
If your ancestry results help you gather more about your family’s past and what you learn includes details about medical history, a genetic counselor would be happy to help review it with you. Ethnicity and family medical history can be factors in the risks we carry for diseases and what we pass on to our children and future generations. Reach out to locate a genetic counselor near you to explore the conditions to be aware and tests that are most helpful to someone with your ethnic background.
Ana Morales, MS, LGC is the National Society of Genetic Counselors Spanish-language and cardiovascular genetics expert working in the Division of Human Genetics at The Ohio State University, where she focuses on genomics and cardiovascular genetics.
Erica Ramos, MS, CGC is the National Society of Genetic Counselors 2018 President and Personalized Medicine Expert. She is also Director and Head of Clinical & Business Development for Geisinger National Precision Heath.
Brianne Kirkpatrick, MS, LCGC is the National Society of Genetic Counselors Ancestry Expert and founder of Watershed DNA, a private practice specializing in ancestry testing and other direct-to-consumer tests. She is also an NSGC Digital Ambassador.