Next-generation, or massively parallel, sequencing is being touted across the forensic DNA industry as the next “big thing.” Several key milestones were realized over the course of 2018 in using the advanced new tool, as an expert wrote in a recent retrospective.
But what’s on tap for 2019?
Forensic Magazine consulted Jonathan Tabak, director of marketing development for Verogen. The company is an independent start-up founded 18 months ago by a partnership between Illumina and a San Francisco venture capital group. Tabak forecasts some of what to expect this year from both the industry as a whole, and his company in particular.
Q: In 2018, France became the first country to upload data from an MPS-generated profile into its national DNA database. Is France significantly “ahead” of other countries with respect to MPS? Are other countries outpacing the United States?
A: France is certainly an important trailblazer, as is the Netherlands, where MPS has already been employed on a number of forensic cases. Europe tends to be a little more out in front in adopting new forensic DNA methods. However, the U.S. is not far behind. Several leading agencies and institutes have already moved to adopt this technology, and more are preparing to do so in the near future. With the publication of SWGDAM Interpretation Guidelines for MPS and FBI NDIS Approval of the MiSeq FGx® System (by Verogen) expected in early 2019, significant barriers to adoption will be removed.
Q: You also recently wrote about the “NIST 1036” paper in the journal Forensic Science International: Genetics, which appeared this year. How foundational is this work in demonstrating the capabilities of MPS in detecting subtle differences between samples, and within mixtures?
In order to take full advantage of the increased discrimination power and data recovery capabilities of MPS, it is essential that forensic laboratories can calculate match statistics for the many additional alleles revealed by sequencing. These additional alleles can make a big impact on the ability to detect and distinguish contributors within mixed casework samples. While previous published studies had reported sequence-based allele frequency data, this NIST study used the same set of 1036 U.S. population samples which had previously been characterized with older generation technology (capillary electrophoresis, or “CE”). Therefore, we now have high-confidence sequence-based allele frequencies for the 27 autosomal STR loci included in the ForenSeq® DNA Signature Prep Kit (also by Verogen), using the same sample set already established as the basis for population statistics in many U.S. forensic laboratories. This provides an important “bridge” for U.S. laboratories to confidently transition to MPS for criminal casework.
Q: Officials at the helm of the NDIS asked SWGDAM to generate MPS interpretation guidelines, as you have also mentioned earlier. How important are these SWGDAM guidelines? Is this the next major hurdle to get widespread use of MPS in U.S. crime laboratories?
Yes, the SWGDAM Guidelines are extremely important. Many forensic laboratories—not only in the U.S., but globally—use these guidelines as the basis for their data acceptance and interpretation procedures. Therefore, the release of the final MPS interpretation guidelines from SWGDAM, expected later this month, is a major step forward to enable mainstream adoption.
Q: Overall, when do you see MPS taking its next leap forward into becoming regularly used in the U.S.?
The next big step is FBI NDIS approval of the MiSeq FGx Forensic Genomics System (Verogen), which is expected to occur shortly after the release of the SWGDAM MPS interpretation guidelines. This will enable MPS-generated DNA profiles to be uploaded to CODIS and the U.S. National DNA Index System (NDIS). In addition, this will allow U.S.-based forensic labs to utilize federal funding from the National Institute of Justice to support adoption and implementation. This is somewhat comparable to an FDA approval for a new drug, except in this case it’s the FBI NDIS Board approving a powerful new technology for forensic DNA testing.
Verogen’s MiSeq FGx Forensic Genomics System is expected to be FBI NDIS approved early this year. (Image: Courtesy of Jonathan Tabak)
Q: Your company, Verogen, hosted its fourth annual DNA Evidence to Investigative Insights Conference in Barcelona back in October. Who was there (i.e., what countries and agencies took part?) And what were the main takeaways?
The DEII 2018 event brought together forensic scientists from 37 institutes and 19 countries to share their experiences in all aspects of MPS. It was striking how much energy and momentum is building within the global forensic community. There is growing recognition of all the different ways—from STR and mtDNA casework to ancestry and phenotypic prediction, as well as body-fluid ID, metagenomics, wildlife forensics and molecular autopsy—that MPS can be leveraged for forensic investigations.
Q: What will 2019 bring for MPS technology, in general?
I think 2019 will be a breakthrough year for MPS. In addition to the major milestones described above like NDIS approval, we expect the first criminal court cases to be adjudicated where MPS-generated DNA evidence played a significant role. The first national database “hit” (match) with MPS-generated data is expected to occur as well, probably in France. Also, a number of leading private service laboratories are coming on-line, which will increase access for law enforcement agencies and criminal justice professionals who wish to take advantage of MPS capabilities. The overall impact of this technology should be felt more tangibly throughout the forensic community this year.
By the Forensic Magazine