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The use of DNA profiling has revolutionised the use of science in legal cases. DNA profiles produced from manufactured kits are routinely used as evidence. The kits are designed and validated by the manufacturer to operate within a specific range of amounts of DNA, typically 0.5 – 2.5ng (a nanogram is a 1,000th of a millionth of a gram). The kits work by copying (amplifying) the DNA molecules contained in a sample a number of times to produce enough to be detected in the analyser. The chemistry used by the kits is capable of amplifying just one molecule of DNA. By varying the conditions under which the kit is used some claim to be able to produce profiles from much lower amounts of starting (template) DNA. The general term for these techniques is variously referred to as Low Copy Number (LCN) or Low Template DNA (LTDNA) analysis, although some restrict the term LCN to the process used by the FSS Ltd which uses 34 cycles of amplification instead of the routine 28-cycle process recommended by the manufacturer. However, with very low numbers of template DNA molecules the process may fail to amplify the template. This leads to a number of problems in the interpretation of the resulting profiles. These are caused mostly by sampling, or stochastic, errors caused by the failure of the chemistry to work effectively with such low numbers leading to poor reproducibility of the results.
There has been a long-standing debate within the scientific community regarding the reliability of the LCN technique because of the presence of stochastic effects. In the trial of Sean Hoey in Northern Ireland (the Omagh Bomb trial) The Forensic Institute, with Professor Allan Jamieson as the expert witness, were the first and only UK organisation to have seriously challenged the use of the technique in British Courts. The LCN technique was specifically designed to analyse amounts of DNA below 100pg and to produce reliable profiles even in the presence of stochastic effects (allelic dropout in particular). Professor Jamieson (in line with other eminent international experts) argued that the presence of these effects, which increase as the amount of DNA decreases, made the interpretation of these profiles unreliable.
Elsewhere, we deal with what we stated in the Omagh Bombing Trial. In another case involving LCN, Professor Jamieson stated,
"I have dealt with several LCN cases where I have advised that there was no credible challenge to the results. But it cannot be argued that because reproducible results obtained with sufficient amounts of DNA using the LCN process have been accepted that this validates the use of the technique in circumstances where stochastic variability causes serious interpretational difficulties. Nor do I agree that producing a result twice implies that it is reliable; especially if, as in this case that ‘twice’ is only possible from a series of experiments (at least 4) and then a pooling of results from separate material.
I have no difficulty in accepting partial profiles obtained by reliable methods as useful evidence; that is a statistical and not an analytical issue."
The recent Appeal Court decision in Reed vindicates this view of the technique in endorsing the hallmark of reliability as the absence of stochastic effects and enabling challenges to what the Court would expect to be the ‘rare’ circumstances of evidence being led from cases involving between 100 and 200pg. By extension, although the Court expressed no explicit view, it may be expected that cases in the sub-100pg range will now be extremely rare or absent; in any event, they will invite challenge.
The
Appeal Court considers, as stated in evidence by Professor
Jamieson, that profiles produced with more than 200pg
of template DNA, “can produce electrophoretograms
which are capable of reliable interpretation”. However,
according to the User’s Manual for the SGMPLus kit
it is also a fact that the standard method produces
reliable profiles with amounts as low as 250pg. At
best, that would seem to leave a ‘useable range’
for LCN of about 50pg.
Because of the concerns about the reliability of the LCN DNA technique that had been raised internationally, but probably most notably in the UK by Professor Jamieson's evidence at the Omagh Bomb trial, the Home Office Forensic Science Regulator commissioned Professor Brian Caddy and two others to undertake a review of the science. The Caddy Review elicited adverse comment in a 2008 press release from TFI. One comment in that Press Release attracted criticism in various courts, and again in Reed. We stated,
"The Review team did not consult anyone who had expressed contrary opinion on the merits of the FSS’s LCN technique and spoke only to the organisations selling the technique (the FSS and LGC) and to the police as ‘customers’."
We are happy to amend this to
"The Review team did not formally consult anyone who had expressed contrary opinion on the merits of the FSS’s LCN technique and spoke only to the organisations selling the technique (the FSS and LGC) and to the police as ‘customers’. "
It has also been implied that we impugned the integrity of the Review Team. This is not so, and was not our intention. We have prepared a full response to that criticism and to clarify our position.
Other complex, and as yet
unanswered, questions remain about the use of the LCN process. Many LCN profiles are
mixtures, containing small amounts of DNA from two
or more people. Does the 200pg limit apply to the
total template DNA or to one or other of the contributors
which, if the total is 200pg must by definition be
less than that? Presumably the answers will only
emerge as we take on other cases to present the appropriate
challenges yet again.
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The full judgment »
2008 Press Release on Caddy Review »
2010 Clarification on TFI response to Caddy Review »
The Forensic Institute and LCN »
Early caution by Budowle (pdf) »
Dr Bruce Budowle was the head of the FBI DNA lab. He has been an outspoken sceptic of the LCN for years - as this document shows
A lawyer's guide to DNA profiling (pdf) »
by Erin Murphy. "this Essay is about DNA typing done absolutely correctly. It is intended for the forensic science outsider — the person perhaps casually
acquainted with forensic techniques — who may even suspect that bite, tool, or handwriting analyses are faulty, but assumes that DNA typing is science in its
purest, most objective form."
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