OCTOBER 12, 2020
Ashlyn Taylor, a BYU student working for the Center of Family History and Genealogy, starts her day by clocking in and jumping on the computer to sift through email. For her, every day presents new tasks and challenges. She spends much of her time utilizing a breadth of genealogical skills that she has acquired, including reading census data and analyzing DNA, to track people's genetic heritage. She also contacts study participants, edits report templates, and compiles data for research application. Once a week she joins a call with Dr. Brian Shirts and his team of researchers at the University of Washington to discuss their progress and goals. And, at the end of the week, she compiles a report based on her findings to send to this team.
The goal of this research? End preventable hereditary disease like cancer. The method: Family history.
This idea was born as Dr. Shirts and his lab were working with Heather Hampel, a genetic counselor and hereditary colorectal cancer researcher at The Ohio State University. As Shirts‘ lab was conducting genetic testing for this study, they discovered the same MSH2 gene variant in two individuals that shared no obvious relationship. Wondering if there was some genetic component, one of Hampel's staffers conducted genealogical research and discovered that these two were 3rd cousins. Through extended family history research, dozens of descendants from the same common ancestor were identified and received preventative screening and care for cancer.
Seeing the efficacy of using genealogical factors to identify high risk patients, Shirts said he “did genetic analysis of other pairs of people who shared a variant and found that two people who have the same rare cancer risk variant have over 90% chance of being related.” He went on to explain that “by using family history to connect distant relatives, we could dramatically improve cancer prevention outreach.”
Shirts reached out to Jill Crandell of BYU's Center of Family History and Genealogy to see if she would be interested in conducting research in coordination with his lab. With 3 years of funding provided by the Brotman Bay Institute for Precision Medicine, Shirts‘ and Crandell's labs began in 2019 on a cooperative effort to use genealogical tools to trace strains of cancer.
When Dr. Shirts‘ lab identifies individuals with a certain rare genetic variant, those people are connected to the BYU genealogical team. The team, working with the subjects and their families, uses genetic and traditional genealogical research to find a common ancestor between the subjects with the same variant, moving up the family tree to find a shared link. From there, they move back down the tree from that common ancestor to identify other living descendants, who are then contacted about their potential risk of cancer.
According to Shirts, the hardest part is, “Finding people who know that they have a hereditary cancer risk mutation and realize that they can use that information to help a lot of close and distant relatives…most people who are at risk find out after they get cancer, which is too late.” It can be difficult to find more than one person with the same variant who is willing to work with the project. With only one, it is nearly impossible to track the variant through their ancestry. With two or more subjects, all the researchers have to do is determine where the line of their genealogy intersects.
The research is moving forward, though, as BYU student researchers become more adept with genealogical tools and more people are becoming aware of the project. Taylor boasts, “A recent highlight that we have found is an exponential increase in the number of participants we are working with.” As the number of participants in the study increases, Dr. Shirts and his team are better able to identify at-risk persons and get them preventative care, which is much better than reactive care.
Shirts is constantly impressed with the quality of work done by Crandell's team, saying “Every day I am surprised at how effectively the student researchers at the BYU Center for Family History and Genealogy team are able to identify relatives of the people that enroll in this project. It is fantastic to see what they can do with just a little information.”
The more participants the study can find and connect with each other, the greater Shirts is able to identify and prevent traumatic cancer diagnoses by catching the risk early.
Shirts continues to focus on eradicating hereditary disease like cancer through genetic identification. In reflecting on his passion for the medical field, he says, “I keep a quote on my wall that says, ’Nobody ever thanks you for saving them from the disease they didn't know they were going to get.‘ Even though it is hard, it is incredibly satisfying to be able to help someone prevent a disease like cancer.”
To find out more, go to ConnectMyVariant.org
