Forensic genetic genealogy (FGG) has transformed how investigative leads are developed from forensic DNA evidence. The success of FGG in turn is assisting in solving so many more cases than previously was possible and especially more so for the most challenging biological evidence. The genetic foundations, i.e., single nucleotide polymorphisms (SNPs) already are becoming the most robust of genetic systems for human identification and will play similar roles for other important societal applications. If we want to be able enjoy the phenomenal benefits of FGG technology and its associated tools, continued investment to support development, further innovation, and foundational validation are needed.
The Four Pillars of Forensic Genetic Genealogy
Unlocking the full potential of FGG requires advancements in technology, training, federal leadership and public support. FGG testing involves several components or parts that often are performed by different vendors using a variety of methods and tools. Although some of the technology used for FGG has been used in some form in other fields, these methods and tools are not designed for and are not entirely fit for forensic use. The fragmented field and lack of purpose-built methods and tools leads to suboptimal outcomes, inefficiencies, missed connections, or even complete failure—such as not producing a usable SNP profile for forensic searches when it could have been built with an efficacious, integrated system.
In FGG, optimizing each step for forensic applications and ensuring that all parts work harmoniously is the only way to ensure successful outcomes that can help solve your case. The process—from DNA extraction to profile building to database searching—should align seamlessly and should be optimized (and validated) to have the best chance at detecting relatives of the donor of the evidence and determining informative relationships that can help identify someone. Othram is uniquely positioned to provide this seamless integration because we are the only company that combines all aspects of FGG—laboratory services, laboratory technology, forensic software development, and genealogy research—under one roof. We also leverage our experience and track record of identifying more individuals through FGG than anyone else in the world, to continue to build best-in-class forensic workflows and deliver the best user experience for investigators. Each case in which we are involved provides Othram with invaluable insight to refine and improve our tools for subsequent cases.
The Othram research team has been working diligently to innovate across three critical areas so that the full power of FGG can be realized: building ultra-sensitive DNA profiles, enhancing forensic search capabilities, and creating tools to extract informative genetic matches. Importantly, a fourth key component is needed to succeed: the voluntary participation of individuals who consent to make their DNA profiles available for forensic matching. Together, these four pillars form the foundation for advancing tools for human identification to assist in solving cases.
1. Building Ultra-Sensitive DNA Profiles
An ultra-sensitive DNA profile facilitates detection of the maximum number of genetic relationships, even distant ones, with accuracy and precision. This capability is critical in FGG because a poorly constructed profile that misses key relationships can render genealogical analysis difficult or ineffective. Today, most labs are not building optimized, high-density SNP profiles and this is problematic.
Othram’s Forensic-Grade Genome Sequencing® produces ultra-sensitive profiles by analyzing hundreds of thousands of SNP markers. These high-density SNP profiles are essential for identifying distant relatives, as the ability to measure genetic relationships diminishes with fewer markers or incomplete data. For instance, while fewer markers might suffice for detecting close relatives like siblings or parents, robust and comprehensive SNP profiles can be used for the same close relationships but are absolutely necessary for accurately measuring distant relationships, such as third, fourth or fifth cousins.
Dense SNP data are also a prerequisite for using segment-based tools in genetic genealogy analysis. These tools rely on overlapping DNA segments shared between individuals to estimate relationships and triangulate family tree connections. Without high-density data, the resolution needed for accurate segment analysis diminishes, reducing the capability of making genealogical inferences. Dense SNP profiles enable precise relationship detection as well as unlock the full potential of advanced analytical tools for building family trees and uncovering distant connections.
2. Enhancing Forensic Genetic Search Capabilities
Creating an ultra-sensitive DNA profile is just the beginning of the process. To unlock a DNA profile’s potential for identifying kinship relationships, search algorithms are needed that accommodate the limitations and imperfections of forensic data. Unlike pristine direct-to-consumer DNA profiles, forensic profiles often lack textbook call rates or may involve complex mixtures that may not be resolvable. Historically, these issues prevented many forensic profiles from being searched in genetic genealogy databases or if uploaded, generating useful matches.
With Othram’s Multi-Dimensional Forensic Intelligence (MDFI) platform, forensic searches are completely reimagined for use in forensic environments. Our new search algorithms allow profiles with incomplete markers, mixed DNA, or other challenges to be uploaded and searched. Importantly, this innovation has enabled the use of forensic profiles that were previously considered unworkable for database searches. No other genetic genealogy database system and search offers this kind of purpose-built forensic functionality.
The MDFI platform is specifically designed to handle the complexities of forensic samples and helps investigators unlock potential matches from profiles that other systems cannot accommodate. We encourage investigators to bring us their toughest forensic DNA profiles—regardless of where or how they were created, especially if they previously failed in a genetic genealogy database(s).
3. Creating Tools to Interpret and Use Genetic Matches
Once genetic matches are found, the next step is understanding those matches and connecting them to an unknown person. FGG involves building family trees, identifying common ancestors, and uncovering connections within complex genetic data—an intensive, time-consuming process requiring expert knowledge.
Matches often come from diverse relationships, ranging from close relatives to distant cousins, and investigators need tools and guidance to sort through this complexity. To support this part of the process, Othram has developed tools such as automatic clustering, which organizes genetic matches into distinct groups based on shared DNA segments. These clusters correspond to branches of a family tree, helping investigators focus on the most relevant connections. Additional tools provide insights into biogeographical ancestry, shared matches, and triangulated DNA segments, offering a holistic view of the genetic landscape.
Looking ahead, Othram is launching several tools next year designed to simplify and semi-automate the construction of family trees. These tools will streamline the FGG process, enabling investigators to develop investigative leads faster, easier, and more cost effectively which in turn will support efforts to solve cases.
As Othram continues to simplify and automate genetic genealogy, the reliance on expert knowledge and time-intensive methods will decrease. This democratization of the process will allow more people to participate in and benefit from FGG, opening the door to a broader range of cases being addressed.
As we continue to simplify and automate genetic genealogy, the reliance on expert knowledge and time-intensive methods will decrease. This democratization of the process will allow more people to participate in and benefit from forensic genetic genealogy, opening the door to a broader range of cases being addressed.
4. The Power of Participation: Crowdsourcing Human Identification
The success of FGG depends on the willingness of volunteers to consent to using their DNA profiles for forensic matching. When a person uploads his/her SNP profile to platforms like FamilyTreeDNA or DNASolves, the genetic information may become a crucial piece of the puzzle in helping to identify unknown individuals.
Here is how the searching and matching works: A SNP profile from a volunteer is placed in a genetic genealogy database, which is not shared with law enforcement. Instead, when an unknown forensic profile is searched against the database, it generates a genetic distance measurement(s)—measured in centimorgans (cM)—to the volunteer’s profile. Think of it like radar: each person who consents to forensic matching becomes a “ping” on the radar, indicating how genetically close they are to the unknown individual. Unlike physical radar, which measures distance in miles or kilometers, forensic searches measure genetic distance.
The more “pings” (consented profiles) in the database, the more accurately investigators can triangulate the identity of the unknown person. This collaborative process relies on the contributions of volunteers, that is citizen scientists, whose participation makes all of this process possible. Every individual who consents to forensic matching plays a vital role in delivering justice, bringing resolution to families, and solving cases that might otherwise remain unsolved.
Building the future of Forensic Genetic Genealogy
Othram’s mission to advance FGG technology and to provide best quality service is premised on cutting-edge technology and community participation. By creating ultra-sensitive DNA profiles, enhancing forensic search capabilities, developing advanced tools, and empowering individuals to contribute their data, we are setting a higher standard for human identification.
Having identified more individuals with FGG than any other group, Othram has amassed a rich understanding of the processes to obtain robust data and develop viable investigative leads. The experiences and the underlying data allow Othram unique opportunities to benchmark, performance-test, and refine every step of the process—from building DNA profiles to conducting forensic searches and developing interpretative tools. This iterative improvement ensures that every part of the process is working in harmony for enhanced performance, accuracy and efficiency, paving the way for the high standards the FGG field should ascertain.
If you are not ready to onboard this new technology in your own forensic setting yet, come to Othram. More forensic genetic genealogy cases have been solved with Othram technology than any other method. Let’s work together to unlock answers and bring justice to those who need it most. Get started here.
