TUIT2B_1 - johnbuckleton.files.wordpress.com · Web viewMR DESMOND: Doctor, still under the...
Transcript of TUIT2B_1 - johnbuckleton.files.wordpress.com · Web viewMR DESMOND: Doctor, still under the...
<DUNCAN ALEXANDER TAYLOR, recalled:
MR DESMOND: Doctor, still under the guideline 3.2 of SWGDAM
sensitivity and specificity studies, in your validation
study article you say in relation to a false exclusion
rates, "We have no realistic way of measuring the false
exclusion rate except to say we have no undiagnosed
instances of false exclusion". Is that still accurate?
---Yes. That's correct.
You go on further to say, "Having looked at some data we turn
those low grade false inclusions since the LRs are low
and new neutrality or only slightly to the inclusionary
side. They occur when the false donor has the correct
alleles for inclusion and hence they are a property of
DNA rather than a consequence of the software not
performing". What do you mean there when you're saying
"when a false donor has the correct alleles for
inclusion"?---What I mean there is if you generate is
mixed DNA profile with a number of alleles at each region
and then you compare someone who's not one of those
contributors, but just by chance happens to have alleles
and information that make them look like a contributor,
then they will get a likelihood ratio that favours their
inclusion, not because of some error of software but just
simply because they happen to be unluckily enough to have
those same alleles.
Is that talking about advantageous matches?---Yes, that's what
it's classically called.
Are you able to opine as to the likely number of markers you
would see advantageous matches that in such a
construct?---What I can say is that if you generate a
likelihood ratio for a contributor to a mixed profile,
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and let's say that likelihood ratio is 1,000 favouring
the inclusion, then the probability of picking someone at
random from the population who would give you a
likelihood ratio of at least 1,000 favouring the
inclusion is less than 1 in 1,000.
You go on to say: "There are no modelling improvements that
could ever be made which will eliminate all LRs that
falsely favour inclusion"; correct?---Correct.
"This is because the phenomenon causes these results is not a
modelling phenomenon but is due to the available
biological data", correct?---Correct.
You then have a paragraph that's, I think it's still part of
the guideline 3.2 for sensitivity and specificity studies
but your paragraph is 1.2.1 "uncertainty in the number of
contributors". "The determination of the effect of
incorrectly assigning the number of contributors to a
profile on the interpretation is not explicitly a
requirement of developmental validation within the SWGDAM
guidelines, however this is something the STRmix
development team has explored". Now this is determining
the number of contributors based on the examination of
the EPG prior to inputting the data into STRmix, is that
right?---That's right.
"The true number of contributors to a profile is always
unknown", we have been over that before and you adhered
to that?---Yes.
"Analysts are likely to add contributors in the presence of an
artefact, high stutter or forward stutter peak", you
would adhere to that?---Yes.
That's your experience that they're likely to?---That's been
the experience, yeah.
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"The assumption of one fewer contributor than that actually
present may be made when contributors are at very low
levels, are affected by peak masking and a dropping out
(or visible below the analytical threshold) and in
profiles where DNA is from individuals with similar
profiles with the same concentrations". Are you happy
with that?---Yes.
A bit further on, "The inclusion of an additional contributor
beyond that present in the profile had the effect of
lowering the LR for trace contributors within the
profile", are you satisfied that's correct?---Yes.
So the issue of diagnosing the number of contributors can
impact upon the LR in a significant way when dealing with
trace contributors, small contributors?---It can lower
the LR for minor contributors if you increase the number
you use.
Yes. Moving on guideline 3.2.3, precision. Your paragraph
1.3. "There are no two analyses which will be completely
the same using the stochastic system like MCMC. This is
a phenomenon that is relatively new to forensic DNA
interpretation". But you go on to say, "The main cause
of high variability within STRmix is non-convergence
within the MCMC. Strictly Markov change do not converge,
they explore the sampling space forever until they are
told to stop. What we mean when we say Markov chance of
reached conversions is that all chains are sampling from
and remain in the same high probability space.
Non-convergence is caused by the MCMC change not being
run for a sufficient number of accepts". A bit further
on, "At the completion of burning, the MCMC progresses to
post burning. STRmix is set to run for a user defined
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number of burning and post burning accepts". Now, in
terms the appropriate point for the number of runs
burning and post burning acceptances which validation
data do you rely on for that?---Well, within STRmix we
have a diagnostic which indicates when the chains have
converged.
Sorry, say that again?---Within the STRmix output, the results
at the end, there is a diagnostic value which tells us if
the chains have converged which then tells us if they
have been run for long enough.
Have I misunderstood, I thought there isn't actual successful
convergence because it would just take too long and you
would have to have too many runs and iterations?---No,
the way that Markov Chain Monte Carlo works is that you
want, as that paragraph just said, all the chains to be
in the same sampling space which is of high probability.
Yes?---And if they are, then this diagnostic that comes out at
the end of STRmix will tell you that they are.
And if you it don't impose a limit you would run it until they
are actually converge?---Or that they never completely
converge.
Well, until they closer converge, if they are going to?---So
the founders of the Markov Chain Monte Carlo technique,
Metropolis and Hastings are their names, suggest that a
certain value for this convergence diagnostic passing,
since they are the inventors of the technique, I adhere
to what they say and consider that any passing value has
converged sufficiently that there will be no issue with
the results.
Okay. "Putting aside non-convergence there will always exist a
level of MCMC run-to-run variability"?---Correct.
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Is that just echoing back to "you'll never get exactly the same
LR"?---Yes.
You go on to say, "Variation in LRs produced from STRmix
analysis will depend on both the sample and the run
parameters. Sample-specific factors that affect
precision include; 1, the number of contributors to a DNA
profile, 2 the quality, intensity of the DNA profile, 3
the number of replicates available for analysis, 4 the
probability of the observed data given the genotype of
the POI as a contributor, and 5 the amount of STR
information available in the profile"; is that
correct?---Correct.
You then deal with the heading "number of MCM chains and
accepts, increasing the number of either accepts or moves
and adjusting the step size can reduce but not totally
remove the variation", still correct?---Yes.
But you go on to say, "There is, however, an associated run
time cost, hence a trade-off between reproducibility and
run time", you say in this article, "must be
struck"?---Correct.
What's the run time cost such that you form the view it becomes
prohibitive to increase the number of either accepts or
moves?---Well, the number of iterations that we use has
been scrutinised, and we have had a look at a number of
profiles and the amount of reproducibility for these
complex mixtures when we run the same mixture multiple
times, and we are happy with the amount of run-to-run
variability that we get with our current number of
accepts, so we don't push out those number of accepts.
Well, you have said that before, but I'm just taking you to
this particular statement where you've said there is a
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trade-off here between reproducibility and run time that
must be struck", meaning putting cost issues aside, it
could be run for a longer time, presumably to get a
closer reproducibility, is that right or is that
wrong?---It could be. That's correct.
Okay. Are you able to tell us what the run time cost you had
in mind that justifies the trade-off, what sort of
expense are we talking about?---No, I don't really think
it was based on a run time cost specifically for, I am
only talking here about my lab specifically, understand.
Yes?---There wasn't a run time cost for us specifically, it was
more to do with the level of reproducibility, and when we
determined the level of reproducibility, we were happy
with the run time that incurred.
Just pardon me a moment: You authored an article with Messrs
Buckleton and Evert published in FSI Genetics 16 2015 165
to 175 entitled "testing likelihood ratios produced from
complex DNA profiles"?---Yes.
The abstract commencing, "The performance of any model used to
analyse DNA profile evidence should be tested using
simulation, large scale validation studies based on
ground truth cases or alignment with trends predicted by
theory". Towards its end of the abstract you say, "A
better diagnostic is the average LR for HD True which
should be near to one. We tested the performance of a
continuous interpretation model on nine DNA profiles of
varying quality and complexity and verify the theoretical
expectations". In the introduction to the article you
then go on to say, "There is a limit in the type of DNA
profiles that can be assessed by simulation because
calibrating an LR of X requires simulation that has many
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more than X elements". You perhaps better put that in
English for us, an LR, calibrating an LR of X requires a
simulation that's got many more than X elements?---Yes,
so that what that means is, if you were randomly to
simulate profiles of non-contributors and compare them to
your STRmix analysis to generate a likelihood ratio, if
your true contributors had likelihood ratios of say tens
of millions then you would have to run more than tens of
millions of these simulations of random profiles in order
to properly cover all the genotypes of interest, and if
the person of interest, or the true contributor, had a
likelihood ratio in the tens of billions you need to run
tens of billions of simulations, that's what that
sentence means.
Okay. "For a complete DNA profile in a modern profiling system
the value of X can be over 20 orders of magnitude which
is well beyond the practical limits of any standard
computer". The passage I want to concentrate on, you
refer to Dorum and others and you give a reference, 11,
which I will take you to. "Outline and method to
overcome this restriction. The fraction of genotypes
equalling or exceeding the LR is calculated exactly and
assuming between locus independents". Now, you adhere to
that?---Yes, I don't, I'm not as familiar with this
article as some of the others you have been talking
about, but, yes, I adhere to that.
I will just read the sentence again because I am going to try
to marry it up, it may be it's on a different issue, but
there's a passage in Chakraborty's report which addresses
the issue of either dependence or non-dependence between
markers?---Okay.
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So your sentence was "Dorum and others outline a method to
overcome this restriction, the fraction of genotypes
equalling or exceeding the LR is calculated exactly and
assuming between locus independence"?---Okay.
You might recall, if not I'll remind you of it Chakraborty -
just pardon me a second - you've got his report over
there as I understand it in front of you?---That's right.
Okay. If you have a look at p.11, or my copy, it's p.11 and
it's paragraph 21 commencing with, "Also worthy to
note"?---Yes.
"Also worthy to note that lack of consensus among the methods
of interpreting complex mixed DNA mixture extends to
describe and model allele drop outs across alleles within
a locus or across loci. Since it is almost universal to
recognise that allelic drop outs are events mainly due to
DNA degradation", do you agree with that first?---I would
say that they are mainly due to the amount of DNA in the
sample rather than DNA degradation.
He continues, "It is reasonable to predict that drop out event
would occur more frequently (that is drop out probability
will be higher) for alleles with higher amplicon sizes
within as well as across loci". Do you agree with that
half of the statement?---Yes.
Okay. "Also reasonable to assert is if for a specific
evidentiary item allele or alleles of small amplicon
sizes are observed to have dropped out (generally for
loci on the left-hand side of the EPG). The chances of
alleles towards the right-hand side (those larger
amplicon sizes) would also be missing should occur more
frequently by chance alone". Do you agree with
that?---Yes.
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Next paragraph, "In other words, allele drop out probabilities
or their complements cannot be multiplied to developing
formulae for allele determination involving joint
behaviours of allele drop outs", do you agree with
that?---No. And neither does a large body of scientists
that do multiply drop out probabilities in our
calculations going right back to 2000.
Well, do you limit it to 2000?---That's when it first sort of
- - -
Is a recent - - - ?---That's when the first sort of seminal
paper came out with suggested multiplying drop out
probabilities in order to generate a probabilistic
likelihood ratio.
This is a core issue, isn't it, I mean if Chakraborty is
correct here and you're wrong, then really there's the
whole theory behind STRmix or any probabilistic
genotyping methodology becomes worthless, or meaningless,
largely, that's how fundamental or core this issue is, do
you agree with that at least?---No, I don't think I agree
with the way you're putting it there.
I am not trying dramatise it, but if he's right, that you are
not allowed to multiply across the loci, and that is
something that you do, you're conclusions ie the LRs
aren't then worth the paper they're written on, if that
is the breach of a fundamental tenant or a rule of math
in this situation; do you agree with that?---If this is
the case and we're doing something, we're assuming
independence of some event that's not independent, what
you need do is have a look at that the consequence of
that dependence and you make an assumption to say we're
say assuming that this dependence is not significance and
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then you look at the results that you get, the way the
science works isn't that you fundamentally throw out
everything that's been done for the past 20 years because
you don't agree with some dependence statement.
We learn by mistakes?---What you said is not supported by
scores of papers that have been produced in the last 20
years, and there's probably - - -
And that's - - -
HER HONOUR: Let the witness finish?---There's probably eight
or nine different probabilistic genotyping systems that
do multiply drop out probabilities across profiles, and
there's been studies that look at the amount of drop out
compared to what the models would predict and found that
they have been very closely aligned, and even if we were
to take what Chakraborty is saying which is DNA degrades
across the profile so you expect more drop out at the
high molecular rates than low molecular rates, that is
exactly how STRmix works, so he's misunderstood - firstly
he is not correct in some of his statements here.
Secondly he has misunderstood the way that SRT works,
making point 21 almost pointless.
It's almost pointless, did you say?---Almost pointless because
of the inaccuracies.
If that's your opinion, so be it, I want to concentrate on - -
- ?---And the opinion of many others.
I am sorry, I didn't hear you then?---And the opinion of many
others.
Well, everyone that comes to court I will ask a question about,
but in the meantime I am restricted to you?---Okay.
If it assist you or gives you some confidence, Professor
Balding is as firm in the opinion you're expressing as to
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the correctness of the multiplication rule, he gave
evidence yesterday?---Okay.
Okay? But he effectively said if it turned out we were wrong
this and Chakraborty is right then the whole system needs
to be re-looked at before we could meaningfully use the
LRs produced. But just going back a step. The
fundamental principle regarding multiplication, have I
understood you to say, it's first been published as
recently as 2000, thereabouts?---That was one of the
initial fundamental papers that talked about drop out
probabilities being incorporated into likelihood ratios.
I am concentrating specifically on this issue as to whether you
can or can't multiply the drop out probabilities within
and across the loci?---Doing so is very common practice
around the world.
But since 2000 or thereabouts, is that where we're at?---Yes.
Okay. Now, the reason why I'm taking you this part of
Chakraborty's at this point in the cross-examination was
because, and I might be completely wrong, but that
sentence in the testing likelihood ratio's paper that I
was asking you questions about, is that addressing this
issue? So I'll read it again, "Dorum and others outline
a method to overcome this restriction, the fraction of
genotypes equally or exceeding the LR is calculated
exactly and assuming between locus independence"?---Okay.
It is in part addressing this issue as to whether there's
dependence or independence between, amongst the
loci?---There is, but there are different aspects that
you consider to be dependent or independent between loci,
for example genotype frequencies are considered
independent between loci, you can multiply up these
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genotype frequencies to get a profile frequency, but in
STRmix aspects such as DNA amount is not independent
between loci, it's instead independent between
contributors, so for example if you have one contributor
with a lot of DNA and one contributor with a little of
DNA at one locus you expect that to be the same at the
next locus, so there's different factors of independence
between loci, depending on what aspect of the model you
are talking about.
Is this aspect that's being referred to here in the paper, the
testing likelihood ratios paper, addressing the
independence issue being raised by Chakraborty?---It
sounds like the independence issue that that sentence is
talking about is perhaps genotype probabilities.
Well, just for completeness, I will go to the Dorum paper, the
reference was Dorum, Bleka, Gill, Haned, Slipen, Savo and
others, exact computation of the distribution of
likelihood ratios with forensic applications"?---Okay.
And published in 2014 Volume 9 of FSI Genetics, and part of
that abstract reads, "If complex DNA profiles conditioned
on multiple individuals are evaluated it may be difficult
to assess the strength of the evidence based on the
likelihood ratio. A likelihood ratio does not give
information about the relative weights that are provided
by separate contributors. Alternatively the observed
likelihood ratio can be evaluated with respect to the
distribution of the likelihood ratio under the defence
hypothesis, we present an efficient algorithm to compute
an exact distribution of likelihood ratios that can be
applied to any LR-based model". The particular aspect of
the paper that deals with the issue of independence, the
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only reference to it I can find in the paper is at p.95
it falls under the heading of "methods", then it's
subheading "problem formulation". Next subheading "the P
value", next heading "algorithm - step one". Then the
authors say, "The marker loci are assumed to be
independent, which means that the likelihood ratio score
for a genotype profile is the product of the likelihood
ratio scores for the individual loci". Firstly, do you
agree with that statement, or if before you whether you
agree or not, what is that statement saying? I'll read
it again?---Okay.
"The marker loci are assumed to be independent, which means
that the likelihood ratio score for a genotype profile is
the product, and product is multiplication, it's another
word of saying multiplication, you accept
that?---Correct, yes.
"Is the product of the likelihood ratio scores for the
individual loci", so as I read it that's saying you can
multiply the LRs you obtained at each separate marker,
you just multiply them across to end up with the giant
LR?---Yes, that's how I understand it.
Which - - - ?---That's how I understand it as well.
Which is what your STRmix does, agreed?---Which is what STRmix
does, yes.
That's right, so this is addressing the independence
issue?---Well, this is take being the independence of
genotypes between different regions, which has never
really been in question.
Okay, but it's talking about multiplying the LRs across all
loci to produce the final LR?---Yes.
You can only do that, do you accept that, if there is
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independence between the markers?---Well, there's
independence between the genotypes between markers.
There's not necessarily independence, as I said before,
of all mass parameters across the profile.
No, but just on this issue as to whether you can multiply the
LRs, which is what STRmix does?---Yes, you can, you can
multiply the LRs each region to get the overall
likelihood ratio.
Because they are independent?---In that respect they are
independent, yes.
Now what I'm suggesting to you is these authors don't provide
any reference for the statement or assertion the marker
loci are assumed to be independent. Now, I'll ask you to
either, can you provide them now for those that exist,
that provide empirical data supporting the proposition
the loci are independent, either now or at a convenient
time if you can pass the references on to the Crown so
they can be made available to the defence. So you
understand what I'm asking for?---Yes.
HER HONOUR: Wasn't there an earlier answer though to the
effect that this system of multiplying the loci is used
in X number of different systems and has been used in X
number of different systems for X number of years and,
therefore, the validation studies in relation to those
systems validate that methodology, wasn't that the answer
that you gave earlier Dr Taylor?---Yes, it was.
Or something to that effect?---Yes.
MR DESMOND: Well, I understood your answer to be a combination
of the two, but I may have misunderstood it. That is,
the years of practice with this construct is proving what
we're doing, because we say its accurate, but also there
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is empirical data that supports the proposition that it
is appropriate to multiply. So I suppose I'll ask that
question again. Do you say there is any empirical data
that's been peer reviewed that supports the proposition
that the loci for the purposes of multiplication of the
LRs are independent?---I will have to go back and have a
look at literature. I will be going back a fair way
because it's one of those fundamental tenants of biology,
it's similar to looking for a reference for the process
of addition and saying and that's valid, it's going to be
quite difficult, but I can perhaps allay some concerns by
telling you that many of the markers in the current
profiling kits exist on different chromosomes, which
means by definition they are independent from one
another. There's a biological reason why that has to be
so.
Well, how many chromosomes are involved in the PP21
amplification?---So with the modern kits there are some
markers that are on different areas of the same
chromosome. Most of them are spread across different
chromosomes, some are on the same chromosome, and for
those pairs of markers there has been some validation
studies that look at their independence and found that
they can be multiplied, as all the other markers can.
Okay. Well, again, can you trouble yourself to find what
studies support that assertion you're making now?---Okay.
That is for the markers on the same chromosome as well as - - -
?---Yes.
- - - obviously the ones on different chromosomes. If
Your Honour would just pardon me.
HER HONOUR: Can I just ask, wasn't the product rule used for
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spurs as well, the earlier system, the binary
system?---I'm not really sure of that. It would have
been some form - perhaps I'll step back a second. There
is a term in forensic biology called the product rule
which often refers to carrying out a likelihood ratio
calculation without including any considerations of
co-ancestry within a population but if I put that aside
and we talk about the product rule simply being the
ability to multiply individual locus likelihood ratios to
obtain an error - - -
That's what I was referring to, yes?---In that case it would
have been because that's the way that likelihood ratios
are calculated.
Right.
MR DESMOND: Towards the end of this paper, the testing
likelihood ratios paper, doctor, you say, "We recognise
here that the reality of case work is that there is
generally a complexity threshold where DNA profiles will
not be analysed"?---Yes.
"This threshold should not be taken as evidence of the
non-reliability of the model's performance but rather a
practical or business decision made by the
analyst"?---Yes.
"It's a natural concern that is sometimes expressed by forensic
practitioners that where profiles contain relatively
small amounts of consequent appreciable levels of
uncertainty in their measurements and designation, then
the LR from a continuous calculation becomes increasingly
unreliable." Have you pursued or investigated further
this issue of identifying a complexity threshold by way
of providing any criteria or relevant guidelines to the
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forensic practitioners?---As I say in the paper there,
it's not really a science decision, it's a business
decision, so it's up to each individual laboratory and
their practices and their resources and their time
pressures to come up with a group of profiles and limits
on the sorts of profiles that they can practically
analyse in the time that they have to complete their
analyses.
I thought you were recognising the phenomenon that despite the
advances in the science that the probabilistic genotyping
provides theoretically, notwithstanding that there are
suitable cases where the complexity is just too high and
STRmix really shouldn't be used to assist further?---Well
if you - I think if you read that sentence again it says
that there's a complexity threshold that's not a product
of any level of reliability of a software but rather a
business decision.
Yes. But I mean one would think that a government funded
forensic science laboratory is not going to produce a
likelihood ratio for some business decision, some
financial concern, if that's what you mean by business.
What do you mean by business decision?---Well, an example
that I can use from forensic science South Australia is
that we don't analyse five person mixtures where we can't
assume anyone's a contributor. That's not because we
have any lack of faith in the ability of STRmix to do so,
in fact we have validated STRmix to do so, it's simply
that the amount of time required to analyse and then
interpret and then review these very very complex
profiles is a business decision and we have decided we
haven't got the resources or the time to do that.
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You've published the paper with Messrs Buckleton and Bright.
Again, does the use of probabilistic genotyping change
the way we should view sub-threshold data that's in the
Australian Journal of Forensic Science 2015?---Yes.
Apart from other things you have this to say: "This work
evaluates some options for analysts to deal with
sub-threshold information and the risks or benefits
associated with each in the context of analysis within a
continuous DNA interpretation system. We introduce a
novel method for dealing with sub-threshold data
implemented within the STRmix program that allows the
user to specify a prior belief in mixture proportions.
Much of the discussion will be dominated by the topic of
choosing a number of contributors for analysis, which is
where the sub AT peaks will have their biggest impact on
interpretations. There have been various works that look
at the consequences of over-estimation or
under-estimation of the number of contributors". A bit
further on: "This leads to the question of how, if at
all, sub-threshold information should be taken into
account when making the choice of a number of
contributors", and you say, "We, the authors, consider
four broad categories for consideration. 1. Ignore the
presence of sub-threshold peaks when interpreting DNA
profiles. 2. Change the method by which data are
generated (either by lowering the AT or carrying out
replicate PCRs). 3. Use informed priors on mixture
proportion in a probabilistic system. 4. Do not
interpret the DNA profile". Now, from memory you
ultimately concluded that - well, I won't say that unless
I get it wrong. I want to concentrate on change number
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2, change the method by which data are generated either
by lowering the AT or carrying out replicates?---Okay.
At paragraph 1.22, "Lowering the AT". "Comparing graphs
vertically in figure 1" - you may or may not recall,
there will be little point me holding it up to the
camera, but there's a - figure 1 is described in writing
as Log 10LR versus template per contributor (PG) using
sub-threshold information (experiment 1) or ignoring
sub-threshold information (experiment 2) for a range of
four person profiles"?---Okay.
So that's what the figures show apparently?---Yep.
"Comparing graphs vertically in fig. 1 shows very little
noticeable improvement in the ability to discern true and
false donors. However, comparing rows horizontally in
table 4 suggests that lowering the AT or using
sub-threshold information leads to improved ability to
assign the number of contributors. There is a cost in
expert time in using very low thresholds. Although no
evidence is presented here we assume that at very low
thresholds even the most skilled experts will let through
artefacts occasionally". In the conclusion section of
the document you say, "Continuous systems (at least
STRmix as trialled here) can overcome the issues of
missing low level data with minimal effects on the
outcome of the analysis. The effects of over estimation
of the number of contributors may not be too severe as
long as the system has been reliably validated for this
policy. This situation should not be used to enable a
reduction of valid quality practices such as replication
and careful expert inspection of profiles and cannot be
assumed to be conservative". It goes on a bit further,
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"We have discussed strategies to mitigate the effect of
uncertainty in the number of trace contributors present
when sub-threshold information is present in a DNA
profile. We support replication in lowering the AT
whenever practical. The use of sub-threshold data
without lowering the AT may be useful in some cases".
Just on those two statements, is that a different way of
saying the same thing, you either lower the AT so that
you don't no longer then have sub-threshold data that
would otherwise be sub-threshold data above the lowered
AT or else you just read - - - ?---That's what that
means.
Or else you just read the sub-threshold information that's
below the existing AT?---Yes, that's right.
Yes?---That's right.
What AT do you support or recommend in 2017 for PP21 profiles
that have been amplified and going to be analysed by
STRmix?---Okay. Well it depends largely on the model of
electrophoresis instrument that's being used, so common
thresholds that I've seen laboratories use and validate
for STRmix around the world for 31/30 instruments would
have been around 30 to 50 RFU range and for the 3500
instruments I've seen thresholds, analytical thresholds
of around 50 to 150.
You don't put any constraint on the general principle you
express there that you would support or recommend either
lowering an AT or simply making use of sub-threshold
information?---No, it's more of a theoretical discussion
on how to deal with this sub-threshold piece.
On either - - - ?---So it's a recommendation made in the
absence of any restrictions of, once again, resource and
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time and policy and lab practices and so forth.
But you could understand, and I acknowledge those issues, but
you could understand potentially from any given accused's
viewpoint if sub-threshold information is present or if
the AT is lowered so that there's more information than
what there previously was, it may be that there might be
more peaks that would be information used by STRmix, if
STRmix is the program that was going to be used, that
would get a weighting potentially as to whether these
further peaks are on allelic or stutter?---Perhaps I'll
answer it in this way. The validation that labs perform,
actually they all peak through minimal reasonable
analytical threshold that they can sustain within their
laboratory and also they have - I'll quote it from
policies around when samples would be replicated with
further PCR amplifications. Now of course there's always
the option to push those boundaries but if you do you
could continually make the same argument. So, for
example, if I did - if we had a policy of doing two
replica amplifications for each DNA extract, one of
three, one of four, one of five, if you were to lower the
analytical threshold from 100 to 90, why not lower it to
50, why not lower it to 20, why not lower it to 10? The
reality is there's always some limit to which you have to
balance the needs of your lab with the amount of
information that you're getting.
Yes, but what I'm suggesting to you is your comment there is
really, "I acknowledge what the current situation is that
we have, that there are analytical thresholds being used
by these laboratories", and I could - - - ?---Yes.
- - - only assume that you would say that knowing they apply
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these analytical thresholds based on their validation
studies and data, they just don't pull it out of thin
air?---Yes, that's right.
But it's in that context you're still supporting there may be
occasions where either lower the AT or make use of the
sub-threshold data if the AT's not to be lowered?---Yes.
It's still in that context of you saying that?---But those are
theoretical solutions to the problem of sub-threshold
peaks that we've suggested or recommended.
They can be practical solutions as well in a given case.
They're not necessarily theoretical. If the theory's
applied it becomes a practical solution to making use of
more data for the biologist to analyse or eject as being
genuine artifact?---Yes, the theory could be put into
practice.
And the lowering of the threshold increases a proper
description that the genotyping is truly becoming fully
continuous in the sense of where artificial ATs are
imposed either by policy, based on validated data or not,
there is a threshold there which is contra to what a
genuine, fully continuous genotyping system by definition
should be?---Um, I take your point. Any threshold - the
idea is always to remove all thresholds completely from
any evidence interpretation.
Okay. Your Honour, I'm going on to a new point, does
Your Honour wish me to continue or will we have a break
at this stage?
HER HONOUR: Are we going to finish today? What do you think?
MR DESMOND: No, Your Honour.
HER HONOUR: We won't.
MR DESMOND: No.
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HER HONOUR: All right. In that case we'll have a ten minute
break I think.
DR ROGERS: Just before you do that, Your Honour, I'm wondering
about whether Mr Desmond might be able to indicate the
length of tomorrow because we've got to go ahead now and
book the video-link for tomorrow.
HER HONOUR: Right.
DR ROGERS: And we need to know really - - -
MR DESMOND: I'll finish by lunchtime, Your Honour.
HER HONOUR: Half a day.
DR ROGERS: So if we do half a day.
MR DESMOND: Yes, half a day's long enough. If it's not long
enough then I've had my chance.
HER HONOUR: All right.
DR ROGERS: All right, thank you.
HER HONOUR: Half a day tomorrow. If you don't mind, Dr
Taylor, we'll take a 10 minute break now. That will give
you a chance to stretch your legs as well?---Thank you.
And we will resume at 20 past 3.
<(THE WITNESS WITHDREW)
(Short adjournment.)
<DUNCAN ALEXANDER TAYLOR, recalled:
MR DESMOND: Doctor, are you familiar with a paper published in
FSI genetics supplement series 2015 series five,
development of new peak height models for a continuous
method of mixture interpretation, Messrs Manabe, Hamano,
Kawai, Morimoto and Tamaki?---Not specifically, no.
"The abstract DNA mixture interpretation based on a continuous
model is an effective strategy for calculating rigorous
likelihood ratios as in peak heights in considering
stochastic effects. Such a model would require the
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elucidation of various biological parameters affecting
the expected peak heights. In the present study we
estimated the distributions of locus specific
amplification efficiency, heterozygote balance and to
stutter ratio in 15 commercially available STR loci using
2, 3, 4 single source DNA samples. Our data suggested
that the locus specific amplification efficiency followed
a normal distribution Whereas the heterozygote balance
followed a log normal distribution for each locus. We
modelled log normal distributions for stutter ratios with
allele specific mean values which exhibited a positive
correlation with allele repeat numbers. However, with
the D8, D21 and D2 loci the log normal distribution did
not fit our data because of the complex repeat structures
involved therefore an alternative model for each of these
three loci will need to be incorporated into a software
program based on a continuous model", that's the end of
the extract and in the results and discussion section of
the paper the authors pretty much repeat the same thing.
I'll just read this. "However LUS values could not be
determined for D8, D21 and D2. For example there are two
types of repeat structures in the D8, in the D8S locus
i.e.", and then - I'll read it out, "TCTA to the little A
and TCTA, then TCTG and TCTA to the little A minus
negative 2 for allele A. Therefore for these three loci
an alternative model is required and must be incorporated
into a software program based on a continuous model".
For the purpose of the question assume what these authors
say is correct?---Okay.
That your model would or would not need to be modified to
accommodate these three loci where LS values couldn't be
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determined?---No, I don't think our model would need to
be adjusted and I say that because during the validation
of STRmix in our lab but in many labs we have a look at
the stutter ratios for each allele for each locus and
determine whether or not the regressions that we are
using are STRmix and longest uninterrupted sequences
we're using in STRmix are applicable.
You say LUS values can be determined for D8, D21 and D2S, is
that your position?---I would suspect so. There's online
databases where you can look up these values.
Well, I'm asking you now. Your best recollection is would it
be - just so we're clear, is it you, you the developers
or is this a matter for internal lab validation studies,
identifying whether LUV values can or cannot be
determined for D8, D21 and D2S?---Well it's up to each
lab to individually determine the stutter ratios for each
locus and how STRmix will model that. Having said that
we have done work or in particular Joanne Bright has done
work to see whether or not there is much variation in
stutter ratios between labs using the same DNA profiling
kits and it turns out that there's not.
Is your final position even if these authors are right it
doesn't make much difference?---Well, we've modelled
stutter and stutter ratios for all these loci so we know
how it's performing.
For these three loci?---For those loci and many others we've
modelled stutter ratios and are perfectly happy with way
that we have modelled them for use in STRmix.
But prior to me bringing the article to your attention you
weren't aware of it?--- No.
Are you - on a different issue, on a more general footing - are
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you familiar with authors Alan Jamieson and Scott Bader
who have written a book "A Guide to Forensic DNA
Profiling", I believe it's in 2016?---I haven't seen the
book but I know of particularly Alan Jamieson but I
haven't seen that book.
I just want to read to you parts of their paragraphs dealing
with fully continuous probabilistic genotyping
approaches?---Okay.
And ask you whether you agree or disagree. "A significant
challenge to fully continuous probabilistic genotyping is
the lack of consensus within the scientific community
about which of a number of possible solutions is
correct", do you agree with that?---No, not really.
"In those instances where the forensic science community cannot
be persuaded that a particular approach is correct it
will not be possible for a probabilistic genotyping
algorithm that uses that approach to reasonably assert
that that probabilistic genotyping approach itself is
generally accepted", do you agree with that?---No.
"And if a probabilistic genotyping approach professes to have
finally solved the difficult task of distinguishing
between signal and noise in DNA test results it would be
irresponsible for that solution to not be shared in the
peer reviewed literature so that it could be applied by
those using conventional approaches to interpret test
results", do you agree with that?---That statement seems
more reasonable. My general feeling is that any
significant advances to the way that we can interpret DNA
evidence, or really any evidence in any field really have
a responsibility to then publish those results and share
it with the wider community.
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The phrase "distinguishing between signal and noise", is that a
reference to distinguishing between peaks and stutter and
other artifacts?---It's hard to say exactly what they're
talking about. It could be stutters and alleles, it
could be alleles and artifacts, it could be baseline
noise inherent in the instruments that generate profiles
and peaks.
Is this correct, there is no biological answer and not likely
to be one in the foreseeable future to the task of
distinguishing between alleles and stutter and other
artifacts if we include them? It's not a biological
solution that's ever - seemingly ever going to be
developed?---Well, that's - - -
It's a simulation exercise, it's a modelling solution that's
being promulgated, is that correct?---There's a few parts
to your question there. No, there isn't any biological
way we're going to be able to distinguish stutters or
peaks that are completely stutter versus peaks that are
partly stutter and partly allelic. The only way that we
can deal with that sort of uncertainty is through the use
of probabilities and probabilistic genotyping. So my
answer to that particular question would be that we
already account for that uncertainty and we have very
strong models for accounting for uncertainty surrounding
allelic or stutter nature of peaks. That's what we do
already. With regards to the second component, which is
identifying artifacts from other peaks, there is work
being done in that area. I'm in fact doing some work in
that area myself at the moment using a particular type of
machine learning known as artificial neural networks and
I've published work to that effect.
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I think I've read the paper or one of your papers, is it the
artificial robot or artificial intelligence for the
purposes of calculating the number of possible
contributors?---There is - well, the paper that I've
written is called "Teaching Artificial Intelligence to
Read Profiles" or electropherograms.
Yes?---There is another paper that uses machine learning to
assign number of contributors. I'm not an author on that
particular paper but it does exist.
I'll move on to the next statement by Jamison and Bader:
"Debates similar to those regarding signal and noise
continue to a greater or to a lesser extent for many of
the features of a test result that a human analyst or a
continuous probabilistic genotyping approach might
consider", do you agree with that?---Can you just read
that again?
"Debates similar to those regarding signal and noise continue
to a greater or to a lesser extent for many of the
features of a test result that a human analyst or a
continuous probabilistic genotyping approach might
consider"?---I don't really know what that sentence is
even saying.
Okay. "Proponents of some fully continuous probabilistic
genotyping approaches such as STRmix and True Allele have
suggested that validation studies that show that their
approaches consistently arrive at correct conclusions are
sufficient to ensure the reliability of their
approaches". Is his statement correct in the sense of
that that's what you, on behalf of STRmix, are
suggesting?---Well, again, there's a couple of components
to what - that sentence there. One is that it talks
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about we're saying that we get the correct likelihood
ratio, I believe you said at one point.
I'll read it again for you?---Okay.
"Proponents of some fully continuous probabilistic genotyping
approaches such as STRmix and True Allele have suggested
that validation studies that show that their approaches
consistently arrive at correct conclusions are sufficient
to ensure the reliability of their approaches"?---Okay,
so it says "correct conclusions" so by that we'll take it
that he means inclusionary values or exclusionary like
the ratio values for contributors or non-contributors, so
still there's a couple of points. One is that we don't
necessarily state that we have consistently correct
conclusions - I guess we're going back to the idea of
adventitious matching here where you can get
non-contributors who give inclusionary values just by
property of the DNA rather than by whatever system you
use to analyse it. However, what I would say is that I
do agree that we say that we've done large numbers of
validation studies and we've looked at a lot of profiles
and a lot of mixtures in a lot different situations and
we use this as evidence that STRmix produces reliable
results.
You may anticipate it but I'll be asking you questions further
on that issue in relation to the recent PCAST
publication?---Okay.
Just continuing with Jamieson and Bader, they continue that
last sentence that I've just read out?---Okay.
With the next, "That position is at odds, however, with the
long-standing expectation both in forensic science and
other disciplines such as computer science that
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validation studies are primarily intended to determine
the boundaries beyond which an approach cannot be
expected to generate reliable results. Validation
results cannot be extrapolated to say that a method can
generate a reliable interpretation for all manner of
samples. No validation study could be performed to
demonstrate that a probabilistic genotyping approach is
'fit for all purposes'. Instead they need to deliver
explicit limits such as while output for up to three
person mixtures and where degradation/inhibition has not
occurred are correct for more than 99 per cent of
samples, this approach is presently not suitable for use
with mixtures of four or more individuals where
degradation/inhibition may have occurred or where close
relatives may have been contributors to a mixed sample."
Was that too much or do you want me to read it again or
did you absorb it?---No, that's all right, ask your
question.
Well, do you agree with that?---I agree with the sentiment that
you need to know the limits of whatever system you're
using and certainly we have limits to what STRmix
analyses.
See, as I read it, he's really saying you're extrapolating your
validation results backwards to say, "Well, these are the
results we got, the results are correct therefore we
validated our system". It's a sort of reverse way of
validation. It may be I am misunderstanding what he's
saying?---No, but that is the standard way of validating
something, creating known mixtures or known results,
testing them within your system, knowing the answers that
they should give, looking at the answers and if the
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answers are as you expect, then you've validated your
system or at least for whatever it is that you've tested.
They go on to say, "Among the boundaries that need to be
explored separately and in concert are the number of
contributors to a sample (the larger the number of
contributors the more computationally challenging an
evaluation), the degree of degradation inhibition of the
DNA from each of the contributors to a sample, the degree
of relatedness of possible contributors to a sample and
the quality of useful information in a test result. Some
samples simply will not have appreciably more information
associated with them than negative controls and reagent
blanks". Do you agree with that?---That seems
reasonable.
He goes on to say, "Validation studies with dozens or even
hundreds of samples cannot suffice given that evidence
samples come in a very wide variety (of number of
contributors, degrees of degradation and mixture ratios)
and are unlikely to be well represented in any validation
work". Do you agree with that?---Not completely, no. I
would say that we've done quite extensive validation on
STRmix to quite a high degree of profile complexity and
that, we would expect, to cover the vast majority of case
work samples we would see and there's no reason that even
if we obtain a particular ratio of contributors in a case
work sample that we haven't tested in a validation sample
that there's any reason we can't use STRmix in those
situations.
After a draft report Professor Balding confirmed that was in
August last year a final report to the president entitled
"Report to the president, forensic science in criminal
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courts, ensuring scientific validity of feature
comparison methods" was published. Are you aware of
it?---Yes.
Apart from other sciences it addressed, one of which was the
science of probabilistic genotyping?---Yes, that's right.
On p.76 of the report - - - ?---I do actually have this report
with me.
You're welcome to open it up, it will be easier to follow,
follow me as I read parts of it to you. Just for sort of
context, p.76 there's the paragraph, "Subjective
interpretation of complex mixtures"?---Yes.
Then we can go down to the bottom of p.78, "Current efforts to
develop objective methods"?---Yes.
And the authors state, "Given these problems several groups
have launched efforts to develop probabilistic genotyping
computer programs that apply various algorithms to
interpret complex mixtures. As of March 2014 at least
eight probabilistic genotyping software programs had been
developed", and they list them, one of which is STRmix,
"with some being open source software and some being
commercial products. The FBI lab began using the STRmix
program less than a year ago in December 2015 and is
still in the process of publishing its own internal
developmental validation". Just on that, has that been
completed to your knowledge as yet, that FBI
developmental validation?---Yes, that's recently just
come out in Forensic Science International Genetics.
Okay. But is that akin to what FSL in Victoria have done
validating STRmix for their purposes, an internal
validation, or is the FBI one of greater - - -?---Yes, it
would have - - -
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It's the same?---Yes, it would have similar components to the
Victorian validation.
It may but is it more widespread, is it more of a generic
validation, or it's solely for the FBI lab type
validation or you're not sure?---This is a validation
that's specifically for the FBI lab but in doing that
validation they have constructed a number of mixtures and
they have done analyses of those mixtures, including
mixtures that are up to five people with complexity and
have minor components that are less, around five to 10
per cent of the profile, so there's a general scientific
interest because they've gone a bit further than some of
the other published validations.
All right. They then continue, "These probabilistic genotyping
software programs clearly represent a major improvement
over purely subjective interpretation. However, they
still require careful scrutiny to determine: One,
whether the methods are scientifically valid, including
defining the limitations on their reliability (that is
the circumstances in which they may yield unreliable
results) and, two, whether the software correctly
implements the methods. This is particularly important
because the programs employ different mathematical
algorithms and can yield different results for the same
mixture profile". Do you agree with that
paragraph?---Yes, both of those things are important to
look at.
Next paragraph: "Appropriate evaluation of the proposed
methods should consist of studies by multiple groups not
associated with the software developers that investigate
the performance and define the limitations of programs by
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testing them on a wide range of mixtures with different
properties". Do you agree with that sentence?---I agree
that these sorts of tests should be done. I don't really
see the need to cut out the software developers if
they're the ones that are doing the tests.
So you're saying evaluations both by software developers and
groups not associated with the software
developers?---Yes, both groups.
Okay. "In particular, it is important to address the following
issues: one, how well does the method perform as a
function of the number of contributors to the mixture?
How well does it perform when the number of contributors
to the mixture is unknown?" You would agree with that,
wouldn't you?---Yes, that's reasonable.
Number 2: "How does the method perform as a function of the
number of alleles shared among individuals in the
mixture? Relatedly, how does it perform when the
mixtures include related individuals?" Sounds reasonable
as well, doesn't it?---Sounds reasonable.
Number 3: "How well does the method perform - and how does
accuracy degrade - as a function of the absolute and
relative amounts of DNA from various contributors? For
example, it can be difficult to determine whether a small
peak in the mixture profile represents a true allele from
a minor contributor or a stutter peak from a nearby
allele from a different contributor (notably this issue
underlies a current case that has received considerable
attention)" - and I'll take you to the footnote in a
minute, but do you disagree with any of those sentences
or questions raised in issue 3?---Well the first sentence
there I agree with, it's good to look to see how the
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method performs as a function of the absolute and
relative amounts of DNA. The next sentence, for example,
it can be difficult to determine whether a small peak in
the mixture represents a true allele from a minor
component or a stutter peak from a nearby allele from a
different contributor. A lot of that is dealt with
probabilistically these days, so within STRmix. If
there's a small peak in a stutter position and now if
it's also in a forward stutter position STRmix will
consider it as allelic or stutter and weigh those options
up against one another.
Just on that issue, in a given situation where a peak is
weighted on one or more occasions as annual allele at a
given locus, and even when it's weighted at a very low
level, but is still weighted as an allele, and it's not a
match for the person of interest, then the reasonable
possibility must exist that the entire sample is not
coming from the person of interest, because you've got
that one allele that's a positive mismatch; do you agree
with that?---No. I mean, if you're talking about mixture
where there's a major component and a minor component and
you are talking about a putative - there might be
stutter, or it that might be stutter and an allele of a
minor, so sometimes the program will consider that that
peak in the stutter position is completely stutter, and
sometimes it will consider that it's partly stutter and
partly allelic and - - -
Sorry to interrupt, how does it reflect where it's partly
stutter and partly peak in the one piece of data that's
printed and we can read?---As in an electropherogram or
as in STRmix results?
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In the STRmix results, where you have like the top five
genotype page and the DCON?---If you look at the various
weightings for the different genotypes that STRmix
considered, if it's considered anywhere part of that
allele is allelic, then it will have a weight in it, or
appear in the list. But it's only considered allelic
part of the time there's no need for a minor contributor
to have that particular peak as one of their alleles
because it's only considered allelic part of the time.
The other part of the time it's considered entirety
stutter, which means the genotype of the minor
contributor could be something that did include that
stutter peak.
I understand the logic of that and that's why I said to you the
weight of the evidence may be that it's a stutter, but
STRmix is saying there's a reasonable possibility, and
let's use the figure of five per cent for the sake of the
argument, on five per cent of occasions that, in fact,
could be an allele?---Okay, yes.
If that's not a match at that particular locus with the person
of interest then that person can, in fact, then be
excluded on the basis it's reasonably possible he did not
contribute to that DNA?---Well, if it's a five, say five
per cent of the time STRmix considers that to be an
allelic and 95 per cent of the time it considers some
other combination of alleles to be genotype of the minor
component, if the person being compared aligns with the
95 per cent of the time genotype then they will get quite
a high likelihood ratio.
Indeed?---If they align with the five per cent genotype, which
includes some incorporation into that stutter peak, then
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they will get a lower rating and the likelihood ratio
will be lower and if they don't align with any
possibility that STRmix has considered then they will be
excluded.
I just want to the make sure we're - I've explained the issue
clearly to you as - - - ?---Okay.
As it may be I will seeking to raise with you in front of a
jury when we get around to having a trial. There are
occasions where in the STRmix data a given peak will be
deemed allelic for a minor component to the mixture,
perhaps let's say five per cent of the time, 95 per cent
of the other time that peak is being deemed is stutter,
okay?---Okay.
But on that scenario where it's allelic five per cent of the
time, at the particular marker, if that is a peak that
does not match with the known reference sample of the
person of interest, then if that in fact is an allele it
cannot be the DNA, the person of interest cannot have
contributed to that component, you agree with that, don't
you? Well, I should say it's a reasonable possibility
that he may not have contributed to that component of the
DNA profile?---If that peak was definitely allelic and he
didn't possess it then he couldn't be the contributor,
but you're saying in your scenario STRmix only considers
allelic five per cent of the time, which is a far shot
from if it's definitely the allelic.
Indeed it is, but it's still a reasonable possibility, that is
my point?---It's a possibility that has been - it's been
considered by STRmix in the holistic way that it
generates a likelihood ratio.
Okay. Look, sorry, I had digressed on that, but getting back
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to this document. Paragraph 4, or issue 4, "under what
circumstances and why", so before we do issue 4, I had
promised to take you to footnote 212?---Yes.
Some programs - sorry. "In this case examiners used two
different DNA software programs, STRmix and True Allele
and obtained different conclusions concerning whether DNA
from the defendant could be said to be included within
the low level DNA mixture profile obtained from a sample
collected from one of the victim's fingernails. The
judge ruled that the DNA evidence implicating the
defendant was inadmissible and it was referred to as the
Potsdam Boys murder case may hinge on miniscule DNA
sample from fingernail", in the New York times,
apparently, and there's a reference to DNA results
wouldn't be allowed in the Hillary murder trial. Are you
familiar with - that's two cases they're referring to, as
I read it, the Hillary case?---I think it's - - -
Or it's the one - - - ?---I think it's just the one case, just
the Hillary case.
You didn't give evidence or you did give evidence in that
trial, in the pre-trial proceedings?---I wasn't involved
in that trial at all.
Okay. And does include that you weren't involved in the
prosecution as your services personally hadn't been
retained on the STRmix result for the purpose of seeking
to have it admitted?---Correct, that will all handled by
John Buckton, one of the co-developers of STRmix.
All right. Let's go to issue 4, "Under what circumstances and
why does the method produce results (random inclusion
probabilities) that differ substantially from those
produced by other methods". Do you agree with
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that?---Yes, that's useful information to know.
I'll skip a paragraph. If you think we should go back to it,
tell me, but I will pea go to the paragraph, "Most
importantly current studies have adequately explored only
a limited range of mixture types (with respect to number
of contributors, ratio of minor contributors and total
amount of DNA)". Do you agree with that sentence?---Um,
yes, but go on.
"The two most widely used methods", is that right, that STRmix
an True Allele to your knowledge are the two most widely
used methods?---Probably out of the continuous genotyping
systems those would be the two most widely used methods,
yes.
"The two most widely used methods STRmix and True Allele appear
to be reliable within a certain range based on the
available evidence and the inherent difficulty of the
problem", and the problem is identified - he refers to a
number of articles, many of which you are joint author
with, so we don't need to repeat all those?---Okay.
But there is the footnote for that sentence. Do you agree with
that sentence?---The point I would make with that
sentence - there' two points that I would make about that
sentence. One is that in compiling the PCAST report, the
people on the board there were only considering published
material, there's a wealth of information in unpublished
laboratory validations which go towards the reliability
of STRmix beyond the range of what these people had
access to.
Yes?---The other point I would make is that since the published
- since this PCAST report was published the FBI
validation material has been published in a scientific
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journal and goes well beyond the limits outlined in the
PCAST report, as notably they go to five person mixtures,
and in those five person mixtures the minor component is
less than 10 per cent, so later on in the report when
they say that these limits could be expanded if further
published material is available, well, already further
published material is available, and just even further to
that, we, as in the STRmix development team, are
compiling all the validation material from about 20 or 30
different labs around the world that have validated
STRmix in different ways with different instruments. We
now have mixtures that totally number to the thousands
from single source profiles to very complex five person
mixtures down to contributors giving as little as half a
per cent of material which we are just preparing a draft
report for for publication, so very quickly these limits
that the PCAST report are talking about have either
already been exceeded by the FBI validation or will soon
be extraordinarily exceeded by the publication that we
will put out.
That's a big answer to that one sentence, and whether you
agreed with it. You are very, you were very concerned
when this report came out, Dr Taylor, isn't that fair?
This was seen as a roadblock in the, put aside commercial
interests, I am not accusing you of that, but in the
ongoing acceptance, particularly in America either by the
labs, but perhaps more importantly it raising potential
admissibility issues in their courts of law in the United
States, that was the potential roadblock this PCAST
report created, do you agree?---So that was a roadblock
that labs would be facing, although in all likelihood
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what they will really be facing is just additional time
in court to explain that the validation reports, or
validation work that they had done internally, addressed
the concerns of the PCAST report, so it wasn't likely to
find STRmix inadmissible in many cases, in my opinion,
because most labs will have already validated beyond the
level of what PCAST was limited to, and this is why I say
it's a shame they didn't have access to all this
unpublished validation material from labs and why I say
that we hope to rectify that by - - -
HER HONOUR: Dr Taylor, could you repeat that, the transcriber
just has had a bit of difficulty because you have been
breaking up?---Certainly.
MR DESMOND: I am happy if he answers it again, Your Honour.
HER HONOUR: Could you give the answer again, please, Dr
Taylor, if you can remember the question?---I think so.
So my opinion was that I didn't really see this report
being a roadblock in that STRmix was going to be found
inadmissible all of a sudden in a number of cases because
labs have done quite extensive validations to show that
STRmix is reliable and can function with these more
complex mixtures that go beyond what PCAST was limited
to, so it is a shame that PCAST didn't have access to
this extra material, the result will be more time in
court for analysts explaining what they have done.
MR DESMOND: Did you not read from the National District
Attorney's Association, marked for immediate release on 2
September 2016, so very quickly it seems after the final
report had been published, and I will just see if I can
find the particular author, but I can't. "National
District Attorney's Association slams President's council
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of advisors on science and tech report. The President's
council of advisors and science and tech, PCAST, voted
yesterday to release a report highly critical of
virtually every forensic discipline used in investigation
of prosecution of virtually every crime committed in
America". I will get to the relevant part. "The PCAST
position is that the forensic science discipline
specialising in the examination of bite marks, firearms,
tool marks, complex DNA matches, tyre treads and shoe
prints, each lack scientific foundational support and
should not be permitted for use in the criminal
courtroom". Now I am not saying he's correct, but I'm
saying the issue was publicly being agitated by
prosecuting authorities in America and I'm suggesting to
you that's a concern that you would have had, there were
potential admissibility issues that may arise in America
because of the PCAST report. Do you still adhere to your
previous answer?---Well, I agree with what you are
saying, there is potential admissibility issues as a
result of this PCAST report coming out, but as I say in
my opinion I don't think, I think the practical outcome
would have been a lot of time spent in court by analysts
talking about validation reports, that would have been
the main outcome.
I understand, but there was quite a reaction also from the
scientific community in - - - ?---There was a number of
letters from a number of different groups that responded
to the PCAST report.
Highly critical of the report and the way it was gone about
including some of the issues you've identified, they
ignored all the sort of unpublished validation material?
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---Yes.
Let's just go back to the report. Pardon me, I have just to
find where I've got it now. I think I'm up to this
paragraph that commences, "A number of papers have been
published". I don't think I have read that yet?---That
was the one that you - - -
Page 80. That is the next paragraph after issue 4?---That was
the one you skipped and you read the paragraph at the end
of p.80 and got up to footnote 215.
Okay, then I will keep skipping. The next sentence of that
paragraph I was reading, "Specifically", or just to give
the context because I am not sure if Her Honour has got
the paper. "The two most widely used methods STRmix and
True Allele appear to be reliable within a certain range
based on the available evidence and the inherent
difficulty of the problem. Specifically these methods
appear to be reliable for three person mixtures in which
the minor contributor constitutes at least 20 per cent of
the intact DNA in the mixture, and in which the DNA
amount exceeds the minimum level required for the
method", and there's a footnote there, 216 which reads,
"Such three person samples involve similar proportions
are more straightforward to interpret owing to the
limited number of alleles and relatively similar peak
height, the methods can also be reliably applied to
single source and simple mixture samples provided that in
cases where the two contributions cannot be separated by
differential extraction the proportion of the minor
contributor is not too low, e.g., at least 10 per cent".
Are you able to say where they have got that from, that
footnote?---No, no, I don't know.
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PCAST is comprised of a number of eminent scientists, not
so?---I believe it was a group of scientists and lawyers
and judges and statisticians, generally from outside the
forensic community, but a number of them.
I understand. But I think we could take it as granted they
just wouldn't make something up, that would be
unlikely?---That would be unlikely.
Okay. That statement or sentence, "Specifically these methods
appear to be reliable for three person mixtures in which
the minor contributor constitutes at least 20 per cent",
et cetera, do you agree with that sentence?---No, and
I'll say two things about it. One is that in an addendum
put out by the PCAST Group they slightly changed the way
that that sentence read, so that rather than it being in
which the minor contributor constitutes at least 20
percent they said in which case - in which the person of
interest constitutes at least 20 per cent they said, in
which case - in which the person of interest constitutes
at least 20 percent.
Yes?---Okay, so that's one difference. The second point I
would make is if you look over the page at p.81 the
second paragraph says, "When further studies are
published it will likely be possibly to extend the range
in which scientific validity has been established to
include more challenging samples. So already, as I said,
the FBI paper has now been published. It's already
extended those ranges, it's doing exactly what PCAST has
said.
We'll get to that but can I just clarify where - I haven't been
- Professor Balding mentioned this addendum of the change
from minor contributor to person of interest yesterday.
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I haven't been able to find it. I'm not accusing him of
making it up. Have you got a web link you could email
the Crown so that I could get it off them or - - -
?---Yes, certainly.
- - - are you able to email, if not the web link, the addendum
itself?---Yes, I will do.
I mean overnight so that I can ask you about it
tomorrow?---I'll do it as soon as I get back to work.
Thanks for that. If it's changed from minor contributor to
person of interest what's the significant change there,
is it that - - -?---There is quite a significance to that
change so you could imagine - let's start off with a nice
strong single source profile with a major contributor or
a single source profile, okay, and then you might have a,
that strong single source profile but now it's got a
second minor contributor present and you're happy to
interpret that and you might be comparing a person of
interest's reference who aligns with a major component of
that mixture of which there's no ambiguity in your
interpretation. Now you might get a third very minor
weak person coming up in that profile and all of a sudden
you've got a three person mixture where one of the minor
contributors is at below 20 per cent and even though the
person you are comparing alliance with a major component
and that there's no real ambiguity in your
interpretation, according to the PCAST need for a minor
contributor to be at least 20 per cent, you wouldn't be
able to interpret it but if you now change that to the
person of interest has to be at least 20 per cent now you
can interpret it.
But with the change does the person of interest have to
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contribute at least 20 percent to the minor contribution
or to the entire DNA?---To the profile.
All right, so continuing. Paragraph: "For more complex
mixtures, e.g. more contributors or lower proportions
there is relatively little published evidence". Do you
agree with that?---Yes, and if you look at the footnote
they do reference a number of publications of which I am
the author of a number of them which do look at more
complex mixtures but they consider that relatively little
so I'll go with their ruling on that.
"In human molecular genetics, an experimental validation of an
important diagnostic method would typically involve
hundreds of distinct samples." You'd agree with that,
wouldn't you?---That seems reasonable.
"One forensic scientist told PCAST that many more distinct
samples have in fact been analysed but the data have not
yet been collated and published", which I think you'd
agree with because you're saying well that's the case,
aren't you?---That's right.
But they go on to say, "Because empirical evidence is essential
for establishing the foundation or validity of a method
PCAST urges forensic scientists to submit, and leading
scientific journalists to publish, high quality
validation studies that properly establish the range of
reliability of methods for the analysis of complex DNA
mixtures". I think you'll agree with that. You'd agree
with that, wouldn't you? We really need to have
empirical data published in peer review journals?---Yes,
that is the ideal. One of, I believe one of the
criticisms of the PCAST report in that particular
recommendation that they make is that forensic journals,
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particularly high quality - sorry, leading scientific
journals don't publish validation material because of - -
-
Like forensic science, FSI, those sorts of journals?---Yes,
like FSI, they don't publish validation material because
it's not novel and it's not generally interesting to the
scientific community so there's this disconnect between
PCAST recommending that validation studies are published
in journals not accepting validation studies for
publication.
Well are you aware of any validation studies dealing with
either STRmix in particular or probabilistic genotyping
generally that have been submitted to any of the leading
publications but have not been accepted?---Um, gosh, I
have anecdotal evidence, I haven't been involved in those
particular papers specifically.
Okay. And then we get to the paragraph I think that you took
me to before when further studies are published and
you've identified the FBI study is now published?---Yes.
And that's, amongst other things, you say that validates for
five component mixtures, does it?---They include five
person mixtures in that study.
In Victoria STRmix is restricted to three still, is that right,
or has it increased in recent times?---I'm not sure.
"When further studies are published it will likely be possible
to extend the range in which scientific validity has been
established to include more challenging samples." You've
not looked at the Tuite - I can't remember now whether I
showed you any of the EPGs or not myself in the earlier
pre-trial but you've never been handed the EPGs by the
Crown to look at?---Yes, I have.
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You have, have you?---Yes.
Approximately when?---Well if you look - - -
Do you mean in the lead up for this time around or in the lead
up to last time you gave evidence?---If you have a look
at my report, my 20 page report dated 15 August 2016.
This is where you're addressing Chakraborty and Adams?---Yes,
that's right.
Were you given the EPGs to assist you with preparing this
report?---If you look at p.17, 17 and 18 and 19 are the
results of me re-analysing a number of those profiles in
the latest version of STRmix. So I've had those profiles
and I have re-analysed them and given the likelihood
ratios from a later version of STRmix there.
All right. I'll have a look at that overnight. So what's the
answer, you got them in the lead up to preparing this
report?---Yes.
Okay.
HER HONOUR: So what was the answer, they were given in the
lead up to which report?
MR DESMOND: To prepare this report.
DR ROGERS: My date is 15 August 2016.
HER HONOUR: Right, thank you.
MR DESMOND: That's probably a convenient stage to cease for
today, Your Honour.
HER HONOUR: All right. Very good. Dr Taylor, I'm afraid
you're going to have to come back tomorrow for the
morning?---That's all right.
And no doubt the OPP will arrange the setting up of the
video-link. We might switch you off now?---Okay.
Thank you?---Thank you.
<(THE WITNESS WITHDREW)
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MR DESMOND: Your Honour we will be discussing at some stage
tomorrow the timetable?
HER HONOUR: For the trial?
MR DESMOND: Yes.
HER HONOUR: Yes, I was wondering whether you were proposing to
make some kind of application beforehand.
MR DESMOND: I was thinking about it last night, Your Honour.
All I could say is it's possible but I need to review the
transcript.
HER HONOUR: All right.
MR DESMOND: And if I was going to make an application I'd send
an email to see what convenient date could be arranged
for a further pre-trial day or days if that application
is made.
HER HONOUR: All right. As I understand it the parties have
discussed witness availability and so forth and it's
looking like next year.
DR ROGERS: Yes, Your Honour. This year is effectively out for
a number, a range of witnesses unavailable dates.
HER HONOUR: Yes.
DR ROGERS: The road block for early next year is Deborah Scott
who will be on leave for three months.
HER HONOUR: At the beginning of next year?
DR ROGERS: At the beginning of next year. She returns in
April, at the beginning of April.
HER HONOUR: Right.
DR ROGERS: And at the moment everybody else is available from
April onwards. So we were rather hoping, notwithstanding
a possible application before Your Honour in relation to
the termination of the proceedings or otherwise, that we
could obtain the dates next year starting in April.
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HER HONOUR: All right.
DR ROGERS: Because it may well be that those dates then change
if we leave it, let it go for another month or so.
HER HONOUR: All right. I'll have a think about that
overnight.
DR ROGERS: Yes, thank you.
HER HONOUR: Now, Mr Tuite's bail was something that was done
administratively yesterday. I believe it needs to be
extended.
MR DESMOND: I don't think it was mentioned yesterday, was it?
I probably should have asked Your Honour.
HER HONOUR: Well, it wasn't, I did it administratively in
chambers.
MR DESMOND: Thank you for that, Your Honour.
DR ROGERS: Perhaps it could be formally extended today until
tomorrow morning.
HER HONOUR: Yes. And can you please then have a look at the
situation. I think it was extended until yesterday
morning at the previous directions hearing or mention.
MR DESMOND: I anticipate it would have been.
DR ROGERS: Yes, and I note that he turned up yesterday and
today.
HER HONOUR: Yes.
MR DESMOND: The issue is going to be if it's adjourned off for
12 months, that's a long time to - - -
DR ROGERS: What, be on bail?
MR DESMOND: Not to be on bail, but it's a long time ahead but
it is what it is, I suppose.
HER HONOUR: Yes, all right.
MR DESMOND: Unless Your Honour forms a different view that you
want a mention in a few months to check he's still
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around.
HER HONOUR: We might think about doing something like that.
MR DESMOND: Yes, Your Honour.
HER HONOUR: In the meantime, I will extend Mr Tuite's bail
until 10.30 am tomorrow morning.
DR ROGERS: And, finally, Your Honour, I have a personal
difficulty about being here after midday tomorrow.
HER HONOUR: Yes.
DR ROGERS: But Mr Sonnet will be here tomorrow and will just
step into my shoes, if that's all right with Your Honour.
HER HONOUR: Very good.
DR ROGERS: I'm sorry, I just have this prior commitment.
HER HONOUR: Yes, not a problem.
DR ROGERS: Thank you.
HER HONOUR: On that note the court will adjourn until 10.30
tomorrow morning.
ADJOURNED UNTIL FRIDAY 21 APRIL 201 7
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