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Ties That Bind

Ties That Bind

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.

Adopted at birth, Jill Hope Begien Lafferty was always curious to find out more about who she was—her background, who her birth parents were and maybe if she had any siblings out there. So about eight months ago, the Woodbury resident became one of 14 million people to complete an Ancestry.com testing kit, full of excitement and a little bit of nerves. Needless to say, she was shocked to discover that not only did she indeed have a brother and a niece she never knew about; they happened to live a few towns over in Turnersville.

Genetic testing companies like Ancestry.com and 23andMe—which has 5 million customers of its own—have been gaining in popularity among the general public. It’s easy to see the appeal—it takes only a few minutes to producea saliva sample in the provided tube and drop it in the mail. The kits are now also easily found in several stores, including Target, Walmart and CVS Pharmacy to name a few.

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Many of those people, like Lafferty, are interested in learning about their family history and/or finding out if they have a long-lost family member. But that’s not the only way these kits are being utilized. From hunting down criminals to detecting potential future health risks, DNA testing is unlocking the unknown in a variety of ways.

According to genetic genealogist CeCe Moore, 23andMe introduced a new type of genetic genealogy testing in 2009 which changed what can be done with DNA. It involved autosomal DNA, “the type of DNA we inherit from all our ancestral lines,” she says. Previously, genealogists were just using Y chromosome DNA and mitochondria DNA, which was much more limited in scope.

A few years prior in 2007, the Coriell Institute for Medical Research, a nonprofit research center dedicated to the study of human genome, started the Coriell Personalized Medicine Collaborative (CPMC). This study’s goal is to ultimately make better predictions about a person’s risk for disease or response to prescription drugs by combining their genomic information with their family history and environmental factors to tailor treatments for their improved health.

Laura Scheinfeldt, PhD, principal research scientist with The Coriell Institute says they offered patients extensive information they can act on to improve their quality of life, and people that were at risk were motivated to make necessary changes and ask questions.

“We analyzed our results a few years back that showed people with genetic risks were [being motivated] to eat healthy and quit smoking,” she says. …“Everything we’ve seen about the participants in our study is they are very likely to view reports and ask questions. When we analyzed what people do with the information they get in reports, we do seem to be able to detect a meaningful influence of their genetic risk information. … People who want to be healthy and reduce the risk for common diseases like cancer and heart diseases want to know as much about themselves as possible.”

‘It Feels Like We’ve Known Each Other Forever’
Lafferty grew up in a loving household with her adoptive parents, but as an only child she always felt like she missed out on having a sibling. Her curiosity about finding more on her family history spiked after she had her daughter, Jami. “I thought to myself, this is the only blood relative I’ve ever had; I never knew what it felt like to be blood-related to anyone,” Lafferty recalls.

She found out the names of her birth parents—Eleanor Mae Gauer and Francis J. Burke—and visited online sites for adoptees and even had a search angel by the name of Candice lend a hand, but even with their names and sparse other connections she uncovered, nothing clicked. That’s when Candice suggested trying Ancestry.com

“So I did it, and the name of Dina Callahan came back,” Lafferty says. “My daughter found Dina on Facebook andsent her a message and said, ‘I’m not some crazy person—my mom was an adoptee and your DNA showed up in my mom’s DNA. We’re just wondering if there’s anything you can tell us.’ Dina realized my daughter was for real and not a scammer. She messaged back saying, ‘My dad said his mom’s name was also Eleanor Mae Gauer, but Francis wasn’t his father.’ Dina then gave us her phone number, I called her and we went over our family history and she said, ‘Oh my gosh—you’re my dad’s sister.’ I started crying, I was so excited. I finally found a sibling.”

Callahan’s father, Jerry, couldn’t believe he had another sister [his other sister, who they say may be Lafferty’s half-sister as well, passed away 10 years ago], andCallahan was in shock she had a newfound aunt.

Less than a week later, the group had an emotional get-together at Jerry Callahan’s home in Turnersville. “When Jerry saw me, he said, ‘That’s my mom,’” Lafferty recalls. “He said I look just like her. We both had gigantic smiles on our faces and hugged for what seemed like five minutes. We sat down in the living room and stared at each other. I was overwhelmed.”

“My dad couldn’t be more thrilled to have a sister and it’s great to have an aunt, but we are more like good friends because of how close in age we are,” Dina Callahan says.

Right away Lafferty noticed that she and her newfound brother have quite a few of the same features. “We have the same nose, cheekbones and small eyes,” Lafferty says. “It’s uncanny because there is a 17-year difference between us [she is64, he’s 81], but we look so much alike.” All three say they feel as if they’veknown each other forever and they havehad more get-togethers since to include expanded family members.

Jerry Callahan described their mother to Lafferty, and it wasn’t all rainbows and sunshine. She found out her mother was an alcoholic and voluntarily gave her up. Lafferty has animosity toward her birth mother, but knew this disappointing news is something that comes with the territory and has no regrets because of the family connections she has been able to make. “[ Jerry] was the connection to my past, who I was and why I had the life I had,” Lafferty says. “I found out the answers to all the questions I had—medical questions about my birth mother, what her life was like, what she died of, why I was put up for adoption. I finally had answers;everything came full circle.

“You have to have your mind set to accept whatever you find out, and I [did]. I didn’t have this rosy picture of this wonderful loving mother who did it for all the right reasons. … My advice is to go into it with your eyes wide open and be ready to expect anything.”

Assessing Health Risks
M. Scott Dawson, MD, a cardiologist with Inspira Medical Group, isn’t surprised by the number of people who want to learn detailed information about their health, including potential future risks because he regularly sees patients who take a great interest in their wellbeing. By educating themselves, the patients ask more questions at appointments and are more proactive in general.

“The old model of, ‘I’m the doctor, you’re the patient,’ is being replaced now with a growing partnership where patients are invested in the discussions and not just there to receive a list of orders from their doctor,” he says. “Patients are much more informed and educated, and there is a growing desire to be proactive. There’s going to be a merger of two worlds coming together right in front of us where these DNA kits, which had initial resistance … revenue is probably going to triple in the next few years as patients want to understand where they come from and also what they are at risk for as they get older. 

“People want to understand, what’smy programming? What’s my DNA coding and how is this going to work in my favor or work against me as I age and go through the rest of my life? Allowing patients to have insight into who they are and where they came from allows them to be empowered now to be more proactive in staying healthy or being healthy,” he says.

But just because your DNA testing maycome back saying you are at risk for specific conditions or diseases, the testing itself is vague, and people shouldn’t solely rely on their results and be concerned just yet.

“If the kit comes back saying you have a risk, it’s just not very thorough [information],” says Janice Christiansen, manager of the cancer genetics program at Virtua Health and licensed genetics counselor. “You can’t replace the information you get from clinical testing versus direct to consumer. If a patient came in with direct to consumer results, we typically push it off to the side. There’s not much good clinically useful information coming from direct to consumer labs.

“It’s rare to find clinics where you can get everything done, but it comes down to the testing itself. The labs that are providing this type of testing, they are not doing the full clinically recommend type of test,” she says. “If they are looking for diabetes, they are trying to look at [the] risks for diabetes for this particular patient; they are looking for variants in genomes and comparing them. … Clinical genetic testing looks at specific genes and sequencing through those genes. We’re looking through DNA codes of several genes to look for any mutations. It’s different than looking at just common variants.”

While Christiansen highly recommends people see a genetics counselor to detect any health risks, she does think the direct to consumer DNA kits are generally a positive thing because it motivates people to find out more about themselves, especially their family history, which plays a part in the first stages of clinical testing.

“When I see patients for clinical testing, they already either have a history of cancer, etc. But there is definitely an uptick of patients we see that have had ancestry testing done,” she says. “A part of the evaluation is to ask about their ancestry, so it does play a role in risk factors we look for.”

As the popularity of DNA testing rises and people are more aware of complex conditions, health systems like Inspira are adapting to the changes.

“Recently, the lab within the cardiology department wants to look at expanding things we routinely do so we can begin to include more and more of this testing … making them more mainstream tests,” Dawson says. “As each day passes, we’re identifying and understanding different diseases, just like 23AndMe.”

When Danielle McBride got her health assessment results back from 23AndMe, she wasn’t surprised because a family member has the condition she is at risk for.

“It told me that I’m at a greater risk and have the variants for age-related macular degeneration, AMD—loss of eyesight,” she says. “It wasn’t surprising because my grandmom has it and I have terrible eyesight, but there’s no cure and nothing to really do this early, and that’s frustrating.” 

She was proactive and headed to an eye doctor—the same eye doctor as her grandmom. “I’m 35 and was in a waiting room of 70-plus-year-old people. The doctor said I was his youngest patient,” McBride says with a laugh. “He did a retinal imaging of the back of my eye so even if I don’t have AMD now, they would have it as a baseline for comparison.”

Catching Criminals
The entire country breathed a sigh of relief when Joseph James DeAngelo, also famously known as the Golden State Killer, was finally caught last year after terrorizing, raping and murdering victims up and down the state of California over 40 years ago. And his capture is partially the result of the foresight by Wenonah resident Dr. Peter Speth.

In 1980, Speth was the Ventura County deputy coroner assigned to the murder of Charlene and Lyman Smith, both of whom were believed to be victims of the Golden State Killer. The forensic pathologist completed two rape kits, one of which sat untouched in a freezer until 2015 when another medical examiner found it and used it as a key cog of evidence to link the murders to DeAngelo. Even more amazing is that making duplicate kits is something that Speth says no other medical examiner in the country did.

“The reason I made duplicate kits was very important,” he says. “I would put the second kit in the freezer at the medical examiner’s office just in case I was to move to another medical examiner’s office.”

Other criminals have been caught similarly throughout the country and as a result, law enforcement officials are opening up more cold cases in hopes of finding more closure.

Kimberlee Moran, director of forensic science programs at Rutgers-University Camden, has ethical concerns about the use of people who voluntarily submit DNA and having it used for a different purpose, a "criminal purpose," she says. 

“Anyone you share your DNA with, it includes [parts of your descents and ancestors] into these databases. … It means there are a lot of people who have been convicted whose DNA came from the national database. Because we’re not collecting DNA of criminals in a systematic way and anyone’s DNA in the database [can be obtained] in a timely fashion, police are resorting to use [non-traditional methods of investigation].”

Moran’s job entails interacting with law enforcement and crime personnel for the recovery of human remains that are oftentimes subjected to DNA for analyzation.

“Since my responsibility is to collect evidence, I need to know what the needs are of the DNA laboratory, what sampling gets done and preventing contamination because that is the big problem with DNA. 

“If you think of the Peanuts character Pig Pen, we’re all pig pens of DNA; swirling dust clouds—that’s us. Swirling cloud of biological material we’re giving off all the time,” she says.

Moran recently attended the American Academy of Forensic Sciences conference and one of the sessions was on genealogy database use. She says a proposal was presented at the conference to change the way direct-to-consumer companies handle your DNA, but legislation is the only way that would prohibit the direct to consumer’s business model.

“There is a proposal of a new model where the consumer pays for their DNA to be sequenced and then has ownership of their data, and if medical companies want them, they can pay the owner of the data for access. That way the person has control over what’s happening with their information.

“I caution people to be wary of freely handing over genetic information, especially if you’re concerned about privacy since you’re handing over the most private of all information,” Moran says. “It’s the code that makes you, you. You have no idea or control over what’s happening with that information. It’s a black box to some.”

Brittany Ann Morrisey contributed to this story.

To read the digital edition of South Jersey Magazine, click here.

Published (and copyrighted) in South Jersey Magazine, Volume 15, Issue 12 (March 2019).

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Author: Julie Shannon

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