Recently a two-day Human Identification Solutions Conference was held in Madrid Spain, sponsored by Thermo Fisher Scientific. Here are a few themes, quotations and observations made from presentations covering a wide range of topics.
Public awareness affect forensic genetics
One theme that arose more than once was the importance of public engagement and how perception of forensics affect the entire field. Prof. Dr. Peter Schnieder (Institute of Legal Medicine, Cologne Germany) called it the ‘CSI Effect: where everything is perfect, just like on TV’. He stated that the perception that ‘everything has been solved in forensic DNA typing’ can lead to the confirmation bias of correctly observed DNA profiles resulting in wrong conclusions in the legal system. Prosecutors, judges, jurors, and defense attorneys are all swayed by these perceptions and need to become aware of the limitations involved.
Thomas Parsons (International Commission on Missing Persons, The Hague, Netherlands) gave a striking presentation on the issues faced during disasters, from mass graves in Sarajevo (where he was instrumental in identifying 70% of the 35,000 killed in Bosnia-Hertzogovenia in the 1990’s) to large-scale accidents to human trafficking to war crimes and missing persons. He said ‘even with the wonderful Applied Biosystems™ instrumentation, a state-of-the-art laboratory’ is not the major barrier for disaster readiness – there needs to be predetermined roles and responsibilities, as well as public awareness and outreach before times of crisis. He stated that government responsibility and support for disaster preparation is a larger issue than technical ones in responding effectively in an emergency.
Massively Parallel Sequencing on the horizon
Several presenters shared their experience and perspective on adoption of new technology for forensic genetics, in particular MPS (Massively Parallel Sequencing, otherwise called Next-Generation Sequencing or NGS). Dr. Niels Morling (University of Copenhagen, Denmark) presented work using the Ion PGM™ sequencer with the Ion AmpliSeq™ Human Identity Panel that was recently published. He showed interesting stutter and adenosine-addition artifact data, reflecting the same artifacts well-known to the forensic community from the PCR amplification. Also out of 10 samples there was 100% concordance to the AmpFLSTR™ Identifiler™ Kit results and were able to show input amounts of as little as 100pg. Also they were able to detect mixtures of 1:20 and the ability to obtain profiles from challenging materials such as FFPE. Dr. Morling mentioned the need for a new nomenclature for sequenced STR alleles, which they have proposed but the work is ongoing.
Bruce Budlowe (Univ. North Texas Health Science Center, Fort Worth, Texas USA) said no field “embraced molecular biology as a tool more-so than forensics”, and is currently working on improving sample collection and low-copy detection. He pointed out that all the existing work with core STRs will carry over, in addition to geolocation (via ancestry SNPs), phenotype (hair and eye color SNPs) and mitochondrial DNA. He described MPS as another detection system, not fundamentally changing the work needed for better sample collection to assist low-level detection.
A driving need for Y-STR testing
Several presenters made the point that Y-STR testing (such as with the Yfiler™ Plus Kit) is vitally important in cases of sexual assault, in spite of other concerns such as backlog. Dr. Jack Ballantyne (National Center for Forensic Science, Orlando, Florida USA) showed data demonstrating the power of the latest Yfiler Plus Kits for better discriminatory power in 1:4000 mixture ratios, combined with the use of the QuantiFiler™ Trio Kit showing data where he obtained both a male-to-female DNA ratio as well as a qualitative measure from the kit’s DNA Index (DI) metric that correlated to the number of loci obtained from a given sample. He stated clearly “if they have evidence and they don’t test Y-STR they aren’t doing their job”.
Lutz Roewer (Universitatsmedizin Berlin, Germany) used the title “The Golden Age of Forensic Y-STR Typing” for his presentation. In a retrospective study of 284 cases, 66 were tested to be sperm-negative, but a full 59% of these have a single Y-STR profile. He highlighted progress with the Y-Chromosome STR Haplotype Reference Database (YHRD.org), now in its 49th release.
Ancient DNA and Rhino conservation
Christine Keyser (Institute of Legal Medicine, Strasbourg University, France) described her work in tracing a Turkish-speaking ethnic group, the Yakuts, in their migration from the 15th through the 19th centuries, with graves near shamanic trees. Analysis of one site dating from the 18th century used mitochondrial DNA sequencing, SNP genotyping using a fragment analysis product called SNaPshot™ Multiplex System.
Cindy Harper (University of Pretoria, South Africa), spoke about the state of the illegal rhinoceros trade. South Africa is home to 98% of the remaining Southern White Rhinos. Trade in rhino horn has been described as similar to illegal drugs, without the risk; the numbers of animals poached rose from 333 in 2010 to 1,215 in 2014, and is now ‘out of control’. The decline in the rhino population is now greater than their reproduction rate. With very limited resources, they have been able to put together a 24 STR panel (based on the horse genome), a database they call RHODIS with over 15,000 profiles, and a handheld eRHODIS method of electronic data collection for field use. They have been able to effectively use this forensic tool to successfully prosecute illegal smugglers whose contraband could be traced back to South Africa.
We also interviewed Dr. Manfred Keyser who spoke about his use of the Ion PGM™ in his forensic research. More information about the speakers is available here, and the main human identification website is available here.
AmpliSeq Human Identity Panel and SNapShot are for Research Use Only. QuantiFiler Trio Kit is for Research, Forensics or Paternity Use Only. Not for use in diagnostic procedures. AmpFlSTR Indentifiler Kit and Y Filer Plus Kit are For Forensics or Paternity Use Only.
When used for purposes other than Human Identification, the instruments are for Research Use Only. Not for use in diagnostic procedures.