With the growth of at-home DNA testing, more people than ever are finding out what their genetic information can tell them, with some surprises along the way.

Ancestry-tracing companies have been offering genealogical DNA testing for years, but it was only around 2007 that a new genetic analysis using autosomal chromosomes brought about a major shift to the industry.

Superior to previously used tests that relied on mitochondria or Y-chromosomes, autosomal DNA testing is able to offer up much more information to people about their recent ancestors by looking at 22 chromosomes that are inherited from both parents.

Although that breakthrough was more than 10 years ago, the full picture of what this powerful test can do is only starting to come into focus. Add to that the fact that more people than ever are taking at-home DNA tests. In 2018, Ancestry.com said it had sold more than 14 million DNA test kits worldwide. Meanwhile, 23AndMe says it has more than 5 million customers.

From criminal justice to assessing your health risks to tracing your family line, autosomal DNA testing is aiding law enforcement in catching criminals, giving people a new way to look at their health and helping others discover familial roots.

Catching Criminals
Twenty-five-year-old Christine Franke left Cigarz, a bar at Universal CityWalk where she worked, in the early morning hours of Oct. 21, 2001. It was the last time she was seen alive. Later that day, a neighbor would find her dead, shot in the head inside her Audubon Park apartment.

Although DNA was found at the crime scene, it did not lead the Orlando Police Department (OPD) to a suspect; when it was run through law enforcements’ genetic information database, known as CODIS for Combined DNA Index System, it yielded no matches. OPD sought out information and followed leads, but the case quickly turned cold.

So, with nothing to go on, 17 years passed with no one held responsible for the cold-blooded slaying of a young woman.

Then in 2018, the Golden State Killer, a moniker for the unknown man who committed a series of rapes in California over a number of years, was arrested after investigators used GEDmatch, an open-source genealogy database, to ascertain his identity.

In the aftermath, the Lake Worth-based personal genomics website changed its terms of service to explicitly allow for law enforcement to use the database for homicides, sexual assaults or identifying an unknown deceased person, opening the door for agencies all over the United States to use it in solving their own cases.

That’s when OPD began working with DNA technology company Parabon NanoLabs to use genetic genealogy to find the man who left his DNA at the scene of Christine Franke’s murder.

“We asked all the agencies with outstanding cases if we had permission to give them a genetic genealogy assessment,” CeCe Moore, a genetic genealogist who works with Parabon, says. “And Orlando jumped right on it.”

Even before Parabon began offering this forensic service, OPD says one of its own had already started the process of trying to apply genetic genealogy to the Christine Franke murder case. Detective Michael Fields was inspired to do so after his family had participated in a commercial genealogy website.

With GEDmatch now openly letting law enforcement use the database, investigators now had the tool they needed to move forward without concern that they were violating any terms of service or trampling on the privacy of people who’ve uploaded profiles. Companies such as Ancestry.com and 23AndMe do not give out information to police unless a court order compels them to do so.

Like most genetic genealogy databases, GED-match works by comparing long stretches of DNA to all of the profiles stored in its system.

“We’re looking for blocks of shared DNA,” Moore says. “The larger those blocks are and the more plentiful they are, the closer that shared ancestry is in time between the match in the database and the unknown suspect.”

In the case of Christine Franke, the unknown suspect’s DNA did not yield a close match but rather many distant matches. To narrow down what part of the family the suspect belonged to, OPD investigators collected DNA from identified family members and sent it to Parabon where lab techs conducted kinship testing to see how closely related each person was to the suspect.

“And we kept doing that until one of the samples [OPD] sent us was a first cousin,” Moore says. “That told us we were getting really close.”

Eventually, Moore was able to narrow down the field to just two brothers.

“You can’t get it further than brothers because they have the same ancestral mix because they have all the same ancestors,” she says.

OPD was able to collect DNA from one of the brothers, who ended up not being a match to the DNA from the crime scene. That meant the other brother had to be the unknown suspect.

With a warrant, police collected DNA from the last brother. Lab testing confirmed that he was indeed who they had been looking for all these years.

In a press conference in November 2018, OPD announced that 38-year-old Benjamin Lee Holmes of Orlando had been arrested for the murder of Christine Franke. He is currently awaiting trial.

Last year during the course of the Christine Franke murder investigation, the Florida Department of Law Enforcement (FDLE) created its own genetic genealogy program. This new investigative unit works collaboratively with Parabon and Florida’s law enforcement agencies to offer genealogical and analytical assistance, as well as funding for testing. It is headed up by chief of forensic services for FDLE Orlando, Lori Napolitano.

Coincidently, Napolitano had already been doing genetic genealogy in her personal life including helping an adopted friend put her biological family tree together and another adoptee find his biological parents. In fact, she was preparing to retire after 29 years with FDLE to start her own genetic genealogy business, but after seeing what happened in the Golden State Killer case and assisting with the Christine Franke murder case, she instead pioneered the creation of FDLE’s genealogy unit.

Napolitano first started doing genetic genealogy in her personal life about three years ago after her mom, who was working to track down some of the family, got her into it.

“We eventually found through DNA testing my dad’s father and my half aunt,” Napolitano says. “Since then—my dad’s deceased so he’s not part of it—but we’ve met his half-sister that he never knew he had and some second cousins.”

She says there is tremendous potential in using genetic genealogy as a lead generator for police.

“This has so far shown amazing ability to quickly resolve cases that have been sitting for long periods of time with the inability to solve them,” she says. “And it is providing hope to victims and families of victims.”

Moore agrees. In her estimation, Parabon so far has helped close about 35 cases all over the United States. Although, none of these have made it to trial as of yet.

“Over the next months and years, hundreds of cold cases, and not-so cold cases, should be resolved thanks to genetic genealogy,” she says.

Assessing Health Risks
Today, without making an appointment with a doctor, anyone can use mail-order genetic testing services to see if they carry an inherited condition, such as sickle cell anemia or cystic fibrosis, or to see if they are at risk for a certain disease such as specific cancers.

Ryan Bisson, a certified genetic counselor with Orlando Health’s UF Health Cancer Center, says although this kind of testing has brought awareness to what genetics can tell people about their health, he worries patients are not being educated properly on what they’re really being provided.

As a genetic counselor, Bisson helps people determine if they have an inherited or hereditary disease running in their family. In particular, he focuses on a person’s risk of developing cancer.

“I think people are putting too much stock in these mail-order tests,” he says. “And they sometimes will refuse to meet with a health care provider like a genetic counselor because they think the mail-order test covered everything.”

23AndMe states on its website that its reports are not to be used as a replacement for visiting health care professionals and that results from its tests should not be used to make medical decisions.

Bisson says it’s important for people to understand that direct-to-consumer testing for health factors is limited because these companies only test for specific genetic variants, which leaves a lot of possibilities still on the table.

“I always tell patients, it’s like your favorite author writes 24 books [and] this test that 23AndMe is offering only lets you read some chapters of two books,” he says. “But not even the full two books and none of the other 20 some books.”

Additionally, if you take an at-home genetics test and receive a positive result, this does not mean you have that disease or will for certain develop it in the future.

“It’s not actually diagnosing anything,” Bisson says. “I think that’s where the public gets confused.”

Bisson hasn’t seen many patients who were spurred to come to the UF Health Cancer Center because of a result from one of these tests, although he suspects that is because 23AndMe only started offering testing for certain genetic variants related to breast cancer in March of 2018.

“Even if somebody comes to me with a report, the Food and Drug Administration says I have to look at the quality of that and I have to confirm it through a different lab,” Bisson says. “So, sometimes people will come to us with those reports and we still have to do the regular clinic test that we would usually do.”

Deborah Cragun, director of the University of South Florida’s Genetic Counseling Program, says she is not against direct-to-consumer DNA testing for health-related genetic information but she’s concerned about how services such as 23AndMe give consumers not just their verified results but all their raw genomic data.

“They’re testing a whole bunch of things but they’re only giving you back results on certain ones,” she says. “And then they give you access to your raw data … and then that is where the problems happen.”

By problems, Cragun means, false positives, which is exactly what happened to one of her siblings.

Her brother took a direct-to-consumer genetic test and he uploaded his raw data into a program called Promethease, which allows users to compare personal genomics results and generate a report with information about their propensity to diseases. The program told him that, according to his genetic information, he had a pathogenic mutation that causes hypertrophic cardiomyopathy, a condition where the heart muscles become thickened.

“But then when my mom and my brother went to be evaluated, they in fact do not have this condition and they don’t have that actual gene mutation either,” Cragun says. “So, it was a false positive.”

Cragun says the results that people can get from these tests can be distressing. And without the guidance of a genetic counselor, the situation can be scarier than it needs to be.

“[Genetic counselors] do more of that preparing people for what to expect and getting them to think about, ‘What would you do with this information,’” she says.

Cragun also took a 23AndMe test after her husband bought her a kit for Christmas. Through the test, she found out she has a high risk for developing Alzheimer’s disease later in life.

Cragun says what is frustrating about her result is that there is nothing she can do with the information. The test only tells her that it’s highly likely that she will develop the disease, not that she will for sure get it.

And because it’s late-onset Alzheimer’s, she says there is nothing she can change in her medical management to combat her risk. In contrast, people who learn they are susceptible to early-onset Alzheimer’s can take some steps to deal with it.

“I really do have very mixed feelings about it because I found out something that I thought I was prepared to find out and I knew would be coming back,” she says, “but I’m not sure I want to know.”

Both Cragun and Bisson urge people who are concerned about their test results to see a qualified health professional who can order more testing and counsel you on what, if anything, you can do to mitigate your risk for certain diseases.

“Genetics is only a piece of the puzzle,” Bisson says. “You need to look at your personal history, you need to look at your family history [and] you need to look at other environmental factors that you’ve been exposed to.”

Digging up your Roots
Two years ago, Melissa Gaudette, of Windermere, bought herself, her daughter and her mother-in-law AncestryDNA kits for Christmas.

“I knew I was European but I was just curious about where my family had come from,” she says.

After taking the test and waiting about six weeks for her results, she went on the service’s website to look at her ancestral DNA matches. She saw her daughter, who the system said was a person so closely related to her that it must be her child or her parent. She also recognized the name of her niece and a few cousins.

And then there was one other person in her immediate family who she didn’t recognize at all.

“I sent her an email and told her my name and who my parents were and asked how we might be related,” Gaudette says. “And she sent me a very nice email back and said that she had been born in Germany right after WWII—and my father was a soldier in WWII—and that she had never known who her father was.”

Emails exchanged turned into a fateful phone call where the women realized they did indeed have the same father.

“It was funny because the first day when we started talking, I started talking about ‘my’ dad and by the end of the conversation, I was saying ‘our’ dad,” Gaudette says.

The discovery of a half sister was a joyous affair for both women and an incredible coincidence of timing, as Gaudette’s half sister had also given herself the gift of an AncestryDNA kit for Christmas. She had only received her own results just a couple days shy of when Gaudette received hers.

“Timing was everything,” Gaudette says. “It was very eerie how both of us had done it at the same time.” Gaudette’s father is deceased and she believes he never knew that he had another daughter. Since finding her half sister, she and the rest of the family have met up with their newfound family member on numerous occasions, including taking her to Bushnell to see where their father is buried.

Allison Ryall, a genealogy specialist at the West Oaks Branch Library and Genealogy Center in Ocoee, says this is something she sees all the time in her work.

The West Oaks Branch Library houses the Orange County Library System’s genealogy collection, which contains more than 20,000 books and bound periodicals, 10,000 microfiche and over 15,000 reels of microfilm. The collection began in 1923 as a gift from library founder and avid genealogist Captain Charles Albertson. The library offers classes and workshops in genealogy as well as digital familial search tools.

Ryall says many people who come to the library to learn about their ancestral roots are looking to solve something in their family history that troubles them.

“A lot of them are solving personal family problems or they’re using genealogy, I feel, as a means of reconnecting with family,” she says. “Or there was a separation that occurred or a mystery they don’t understand. Or there’s been a break in the family or, you know, something that has haunted them and they’re looking to solve that.”

Ryall, who has a bachelor’s degree in history and another in Russian studies as well as a master’s degree in New England studies, came to the field of genealogy through her own family mystery.

“On my grandfather’s deathbed, I had promised [him] that I would do everything I could to find out what happened to his baby brother,” she says. “That’s when I got my two bachelor’s and master’s and I actually went and lived in Russia for a summer studying the language and trying to solve the family mystery.”

Ryall did end up learning the truth of what happened to her grandfather’s baby brother. Through a convolution of events including the murder of her great-grandfather and the political unrest of Russia in the 1930s, her grandfather’s baby brother had ended up in a children’s home halfway between western Siberia and Moscow. Because of an injury as a child, the brother needed medical care and looked to be disabled. He ended up dying in the children’s home.

Through her work helping people use DNA and traditional genealogical research records like birth and marriage certificates, Ryall has helped people locate biological parents and family members that they never knew they had.

“I feel that knowing who we are and where we come from makes us feel grounded in our life,” Ryall says. “It gives us a sense of being, a sense of what we stand for or what has gone before us.”

In select cases people do find out things that they would rather have not have known, which is why Ryall says people need to be educated before taking DNA tests for genealogical purposes so they can brace themselves for findings that may be upsetting.

“If there is anything hidden in their family or any secrets that are known or unknown, there’s a good possibility that it’s going to be discovered when they take a DNA test,” she says.

But many people are happy to have found a missing part of their family.

In Gaudette’s case, she couldn’t be more elated to have the sister she didn’t know existed now in her life.

“I didn’t know I had a void to be filled but she filled one,” she says.

This article originally appeared in Orlando Family Magazine’s March 2019 issue.