Professor Thore Egeland was awarded an international research and education prize for significant contributions in the field of forensic genetics. His achievements include co-developing the familial relationship statistics software Familias, and his dedication in providing biostatistical training workshops.
The award ceremony took place at the 28th International Society for Forensic Genetics Congress on Sept. 12 in Prague, Czech Republic. A cash prize of 2,500 euro for further research and related travel expenses was awarded. Egeland will be a keynote speaker at next year’s congress, to be held in Washington D.C.
Familias – Finding Family
The Familias program is about finding family. The program analyzes DNA data for specific genetic markers, locations in the DNA where differences occur, and uses this information to infer relationships between people. The smaller the variation exhibited by certain genetic markers, the more likely the DNA belongs to individuals who are closely related. The calculations can get quite complicated, as many factors need to be accounted for. For example, the DNA may contain mutations – random changes – or it may be missing information if it comes from an old crime scene and is degraded. In addition, DNA from extended family members may exhibit greater variation. Familias is designed to take all of these factors into account.
To date, Familias has been used in a wide range of applications, from paternity testing to identifying remains from crime scenes and disaster victims. Yet the program can equally be applied to an ecological context, for example to determine the relationship between bears in a population. Perhaps the most profiled forensics case which has relied on Familias is the case of the missing grandchildren of Argentina. From 1976–1983, Argentina suffered under a civic military dictatorship; children were abducted by the regime or born in captivity, their whereabouts unknown to surviving family members. When the regime fell, grandmothers of missing children lobbied to find their loved ones. Familias played a role in reuniting these families.
Taking pride in Familias
When asked what he is most proud of, Egeland points to the extent to which the program has been used within the forensics community. The fact that Familias is both open and free software is also a key selling point, Egeland adds, and he’s pleased that they’ve managed to keep it that way. "It has mainly been used by case workers," Egeland says, and adds, "There’s a growing need to identify people, also in the case of rape victims."
Egeland is quick to acknowledge his partners in developing Familias: "I’ve been lucky to have collaborated with such talented people as Daniel Kling and Petter Mostad," he says. Kling is currently at the National Board of Forensic Medicine in Sweden, while Mostad is a professor at the University of Gothenburg in Sweden. Both have been integral to the development of the program. "The Familias program is robust," Egeland says. This means that the program needs to be constantly validated, in order to maintain its performance.
In addition, Egeland has led biostatistical training workshops that complement the program in several Latin American countries, such as Mexico and Argentina, and also in Spain, Italy, and Denmark. These courses have sometimes been held through the International Society for Forensic Genetics, and other times due to local demand.
New technologies on the rise
One of the challenges Egeland faces is the need to update and expand the program, in order to keep up with changes in the world of forensics. For example, new genetic markers are identified and used in forensic analyses, and genome sequencing will allow for whole genomes to be used in the near future. The Familias program is designed to theoretically use an unlimited number of markers. "It’ll be exciting to see to which degree the program lives on," Egeland says.
Egeland, T., Kling, D., Mostad, P. (2016). Relationship Inference with Familias and R – Statistical Methods in Forensic Genetics. London: Academic Press. 256 pp.
Kling, D., Egeland, T., Piñero, M.H., Vigeland, M.D. (2017). Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'. Forensic Science International: Genetics, 31: 57–66. doi: 10.1016/j.fsigen.2017.08.006