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(Ebook) Misleading DNA Evidence. A Guide For Scientists, Judges, and Lawyers by Peter Gill (Auth.) ISBN 9780124172142, 0124172148 Download

The book 'Misleading DNA Evidence' by Peter Gill explores the complexities and potential misinterpretations of DNA evidence in forensic science, highlighting how such errors can lead to miscarriages of justice. It provides a framework for understanding trace DNA evidence and emphasizes the importance of context in interpreting DNA profiles. The author, a leading figure in forensic genetics, aims to encourage dialogue among scientists, judges, and lawyers to improve practices and prevent wrongful convictions.

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0% found this document useful (0 votes)
19 views36 pages

(Ebook) Misleading DNA Evidence. A Guide For Scientists, Judges, and Lawyers by Peter Gill (Auth.) ISBN 9780124172142, 0124172148 Download

The book 'Misleading DNA Evidence' by Peter Gill explores the complexities and potential misinterpretations of DNA evidence in forensic science, highlighting how such errors can lead to miscarriages of justice. It provides a framework for understanding trace DNA evidence and emphasizes the importance of context in interpreting DNA profiles. The author, a leading figure in forensic genetics, aims to encourage dialogue among scientists, judges, and lawyers to improve practices and prevent wrongful convictions.

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jorineenar
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Misleading DNA Evidence
Misleading DNA Evidence:
Reasons for Miscarriages
of Justice

Peter Gill
Norwegian Institute of Public Health, Oslo,
University of Oslo, Norway

AMSTERDAM • BOSTON • HEIDELBERG • LONDON


NEW YORK • OXFORD • PARIS • SAN DIEGO
SAN FRANCISCO • SINGAPORE • SYDNEY • TOKYO
Academic Press is an imprint of Elsevier
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Editorial Project Manager: Joslyn Chaiprasert-Paguio
Project Manager: Mohana Natarajan
Academic Press is an imprint of Elsevier
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Radarweg 29, PO Box 211, 1000 AE Amsterdam, The Netherlands
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Copyright 
c 2014 Elsevier Inc. All rights reserved.
No part of this publication may be reproduced or transmitted in any form or by any means,
electronic or mechanical, including photocopying, recording, or any information storage and
retrieval system, without permission in writing from the publisher. Details on how to seek
permission, further information about the Publisher’s permissions policies and our arrangement
with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency,
can be found at our website: www.elsevier.com/permissions
This book and the individual contributions contained in it are protected under copyright by the
Publisher (other than as may be noted herein).
Notices
Knowledge and best practice in this field are constantly changing. As new research and
experience broaden our understanding, changes in research methods, professional practices, or
medical treatment may become necessary.
Practitioners and researchers must always rely on their own experience and knowledge in
evaluating and using any information, methods, compounds, or experiments described herein. In
using such information or methods they should be mindful of their own safety and the safety of
others, including parties for whom they have a professional responsibility.
To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors,
assume any liability for any injury and/or damage to persons or property as a matter of products
liability, negligence or otherwise, or from any use or operation of any methods, products,
instructions, or ideas contained in the material herein.
British Library Cataloguing in Publication Data
A catalogue record for this book is available from the British Library
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A catalog record for this book is available from the Library of Congress

ISBN: 978-0-12-417214-2

For information on all Academic Press publications


visit our website at store.elsevier.com
DEDICATION

This book is for my wife Christine. With tolerance and patience, she has
supported and encouraged me for many years.
ACKNOWLEDGMENTS

I am grateful to all of my colleagues for their help and support during


this project, in particular, Hinda Haned, Thore Egeland, Oyvind Bleka
and Jonathan Whitaker have all provided me with valuable advice and
comments.

The preparation of this book has received funding from the European
Union seventh Framework Programme (FP7/2007-2013) under grant agree-
ment no. 285487 (EUROFORGEN-NoE) and it contributes towards the
deliverable: “A protocol to describe best practice at the crime-scene”.
ABOUT THE AUTHOR

My career began 32 years ago at the Home Office Central Research


Establishment (Aldermaston, UK) in 1982; I stayed with the Forensic
Science Service until 2008. I became Professor of Forensic Genetics at the
University of Oslo, Norway and in 2011 accepted a concurrent position at
the Norwegian Institute of Public Health. I have published more than 180
peer-reviewed papers and these have been cited by other authors of scientific
papers more than 12,800 times (lifetime h-index = 63). I am chair of the
DNA commission of the International Society of Forensic Genetics (ISFG);
co-chair of the “Analysis, Methods and Interpretation” subgroup of the
European Network of Forensic Science Institutes (ENFSI) DNA working
group; and a member of the Euroforgen network of excellence, which is
funded by the European Union. I was awarded ISFG Scientific Prize in 2013.

While at the Forensic Science Service, in 1985 I developed the DNA


extraction methods for forensic samples and used the results to publish
the first demonstration of forensic DNA profiling with Alec Jeffreys. In
the 1990s, I led the team that developed the modern genotyping methods
of short tandem repeat (multiplexed) STR analysis. The methods were
subsequently introduced worldwide and were used to create the world’s first
national DNA database in the United Kingdom, along with interpretation
and search protocols. In 1993, I was formally approached by the Russian
Federation to lead a joint project to analyze the putative remains of the
last Tsar of Russia—the first historical mystery to be solved by DNA
analysis. Although the results were considered controversial at the time, in
the following decades, subsequent analysis by others verified the original
conclusions. The claim of Anna Anderson to be the duchess Anastasia was
also investigated by DNA analysis and shown to be false. In the year 2000,
I led the team that developed a new ultrasensitive method of DNA typing—
called low copy number—also considered to be controversial at the time. An
interpretation framework was concurrently developed, and once again the
methods have since been adopted worldwide. Since then, I have specialized
in developing statistical methods to interpret complex DNA profiles and
have supported open-source initiatives. I have given evidence in several
high-profile trials and courts of appeal, both in the United States (Frye
x About the Author

hearing in New York) and in the United Kingdom, including the Omagh
bombing trial, where the judge summarized: “In my view it was extremely
fortunate that the prosecution decided late in the day to call Dr Gill as
his evidence greatly helped to inform and bring some objectivity to the
debate.” The motivation for this book arose from a meeting in Rome that
was organized by Vince Pascali in 2012, entitled: “The hidden side of
DNA profiles.” I have carried out a deep analysis of a number of poorly
reported cases, which are described in the book. Bearing in mind that this
represents a tiny snapshot of current practice, there is little doubt in my mind
that misinterpretation of DNA profiling evidence may cause miscarriages
of justice. My purpose is to provide some clarity—in particular to urge
scientists, lawyers, judges, and their policy makers to engage in debate and
to examine their existing practices.
FOREWORD

Forensic DNA testing, which is arguably the most significant advance in


forensic science in the twentieth century, began with a publication in the
prestigious journal Nature in December 1985. While we appropriately honor
Professor Alec Jeffreys as the father of forensic DNA analysis, Dr. Peter
Gill, the first author of this initial paper, has been a thought leader in many
areas of forensic DNA methods and interpretation over the past several
decades.

In my opinion, over the past three decades no one has done more to
advance forensic DNA analysis and interpretation than Peter Gill. He has
been part of every major development in the field. A few of the articles
that come to mind include the early exploration of short tandem repeats in
1993 (published in PCR Methods & Applications), use of DNA to solve
the Romanov historical mystery in 1994 (published in Nature Genetics), the
establishment of the first national DNA database in 1995 (based on concepts
originally published in 1990 in Electrophoresis), the introduction of mixture
interpretation techniques in 1998 and low-copy number procedures in 2000
(published in Forensic Science International), recognition of the potential
impact of DNA contamination in 2004 (published in the Journal of Forensic
Science), simulation of the DNA testing process in order to understand it
better in 2005 (published in Nucleic Acids Research), and development of
recommendations on probabilistic genotyping methods in 2012 (published
in Forensic Science International: Genetics). His work has longevity as well
as a breadth and depth unequaled in the field. He has had and continues to
have real impact with his visionary work.

This book furthers the reach and impact of Dr. Gill, who is now a profes-
sor of forensic genetics at the University of Oslo in Norway. Misleading
DNA Evidence contains five primary sections: (1) a definition of “trace
DNA,” (2) a review of some causes of miscarriages of justice when there
is an oversimplification of evidence interpretation, (3) a framework to guide
trace DNA evidence interpretation with 13 recommendations, (4) a discus-
sion of uses and abuses of DNA databases, and (5) an interesting review and
discussion of the case investigating the death of Meredith Kercher where
Amanda Knox and others were accused and convicted by an Italian court.
xii Foreword

Misleading DNA Evidence should be required reading for all forensic


DNA analysts so that they can better appreciate the limitations of the
powerful technique that they wield with DNA testing results that have
become increasingly more sensitive in recent years. Police investigators
and members of the legal community who rely on DNA evidence to make
decisions should also read this book as it provides an important word
of caution on the challenges surrounding DNA interpretation as detection
methods have become more sensitive. The text reminds us that just because
a DNA profile can now be obtained from a few cells does not mean that
the source of the profile is relevant to the crime event being investigated.
Transfer, persistence, and mixtures are all possible and can confound
interpretation of the results obtained. Likewise, readers are reminded that
the absence of evidence is not the evidence of absence and so not obtaining
a DNA profile does not mean that a potential suspect is not associated with
the crime under investigation and therefore may not be truly innocent.

Professor Gill notes the true challenge he is trying to address near


the beginning of his book: “to refrain from overstepping boundaries of
knowledge—[in other words] to imply that the evidence has more meaning
than it really does—this is how miscarriages of justice occur.” These mis-
carriages of justice can occur due to what he describes as “the compounded
error effect” from “the association fallacy,” “the hidden perpetrator effect,”
“the naïve investigator effect,” and the “swamping effect.”

In my interactions with Peter over the years, I have found him to be a


forward thinker and an excellent scientist. This book serves as a reminder
and demonstration of Peter Gill’s work ethic, his scientific integrity, and
the positive impact he has had over the years on the field of forensic DNA
typing. Hopefully, the message of his book will be understood and potential
miscarriages of justice avoided as these principles are applied to strengthen
the field of forensic science.

John M. Butler, Ph.D.


NIST Fellow & Special Assistant to the
Director for Forensic Science
National Institute of Standards and Technology
Gaithersburg, Maryland, USA
PREFACE

It is nearly 30 years since the first demonstration of DNA profiling in


forensic science. Since then, the technique has evolved remarkably. In
the early days, only large “visible” crime stains (e.g., blood, semen) were
analyzed. This was imposed by the relatively poor sensitivity relative to
today’s standards. There is an inherent advantage to the interpretation of
macro-DNA samples, in that it is much easier to deduce the relevance of
a supposed crime stain to the crime event itself. From the perspective of a
court, the fact that a DNA profile may match a defendant is of secondary
interest to the questions: “how” and “when” did the DNA transfer take
place? For a defendant to be found guilty, a court must be convinced that the
DNA profile is associated with the crime event itself. The forensic scientist
attempts to apply “deductive logic” in order to associate the DNA profile
with some other aspect of the case—it is not the “fact” of a matching DNA
profile that is of primary interest, rather it is the “context” or the “relevance”
of the DNA profile to the crime event itself. To make deductive inferences,
a chain of associations is implied. For example, the DNA profile may be
found along with a positive test for blood. The scientist may deduce that the
origin of the DNA is from blood—an association is made. The confirmation
of a body fluid “source” is often sufficient to imply an “activity”—if blood
is present, then the prosecution may imply that the defendant or victim
bled at the crime scene; alternatively, the confirmation of semen may imply
sexual assault. Once these associations have been accepted, the court’s task
to decide the ultimate issue of guilt/innocence is a short step to take.

Associations are necessary for any deductions to be made. In recent


years, the sensitivity of DNA profiling has steadily increased, so that now
the analysis of just a “handful” of cells is not only possible, but also
routine in most forensic laboratories. This has been made possible by the
introduction of new multiplexes by manufacturers (these are biochemical
systems used to detect DNA profiles), along with new highly sensitive
detection platforms.

However, as the sensitivity of DNA profiling technology increases, there


is a parallel increase in the uncertainty of associations. This is because DNA
is everywhere in the environment. It can be transferred passively, e.g., by
xiv Preface

touching a surface, or by secondary transfer, mediated by a person other than


the defendant. DNA will persist indefinitely in a dry environment, hence
there is no implicit information attached to the DNA profile that gives a clue
to the “how” and “when” transfer occurred.

To avoid false associations leading to false deductive logic, it is necessary


for scientists to actively consider all possible methods of transfer: before
the crime event—innocent transfer or background contamination; after the
crime event—investigator mediated contamination. The identification of a
DNA profile and body fluid are two separate tests. The association of the
body fluid with the DNA profile is not implicit. The strength of the evidence
expressed as the chance of a random man match or a likelihood ratio cannot
be simply transposed to express an equivalent strength of evidence under
the assumption that the DNA profile originated from a given body fluid;
the uncertainty reduces the strength of the evidence, but this is not always
taken into consideration when expert evidence is provided. The uncertainties
increase as we consider the “activity” that produced the DNA transfer—as
before, the DNA statistic cannot be transposed.

The book is structured into a number of chapters:

The first chapter discusses a definition of “trace-DNA” and proceeds to


explain the main types of contamination and its impact. There follows a
description of causes of miscarriages of justice: the association fallacy; the
hidden perpetrator effect; the compounded error effect; cognitive biases—
especially confirmation bias. The role of the forensic scientist is clarified
within the context of a “statement of limitations” intended to anchor the
evidence at a level that can be supported in a strict scientific sense, so that
speculative “expert-opinion” is avoided.

The second chapter investigates the causes of miscarriages of justice


by reference to several verified and unverified examples, showing how
mistakes occur at every level of the criminal justice system: the investigator;
the scientist; lawyers; the judge; the jury are all susceptible to an over-
simplistic interpretation of evidence that is primarily driven by a family of
cognitive errors.

In the third chapter, a detailed framework is provided to interpret “trace-


DNA” evidence. Recovery of DNA from underneath fingernails is used as an
example since there has been much research into the investigation of transfer
and persistence of DNA in this type of evidence. The exemplar framework
can be expanded to other evidence types.
Preface xv

There has been much debate on the use of national DNA databases in
crime investigation, but the “debate” was never properly resolved. In the
fourth chapter, it is shown that databases can be misused or misunderstood
to provide an impression that the DNA evidence is highly probative in
a given case. However, when the other non-DNA evidence is neutral, or
exculpatory, it is demonstrated that the DNA evidence can be overweighted
in relation to the non-DNA evidence. This is because the former is expressed
numerically (e.g., one in one billion), whereas the non-DNA evidence is
expressed verbally, without statistics. I call this the “swamping effect”.
There are numbers of proposals put forward to redress the balance.

The final chapter brings together the various strands—using the case
of “Death of Meredith Kercher” to illustrate the various principles and
cognitive biases explained in previous chapters. A list of recommendations
is provided.

Books are often static entities, but I would like this to be a vehicle to
facilitate discussion between all of the participants of the criminal justice
system and their policy makers. It has been prepared as a contribution to a
deliverable towards: “A protocol that describes best practice at crime scene”,
under the auspices of the EU-funded, Euroforgen-Network of Excellence,
http://www.euroforgen.eu/. The European Network of Forensic Institutes
(ENFSI) is concurrently running a project entitled “The development and
implementation of an ENFSI standard for reporting evaluative forensic ev-
idence”, http://www.enfsi.eu/projects/monopoly-programmes-mp/mp2010.
The ideas also contribute to this programme. They were recently discussed
at an ENFSI meeting in Tbilisi, Georgia. I am very pleased that a general
consensus is already emerging within the scientific community. I am sure
that I will need to expand, modify, update, and consolidate some of my ideas.
I welcome comments to peterd.gill@gmail.com and I will post updates on
my Web site, https://sites.google.com/site/peterdgill/.
CHAPTER 1
Definitions: Contamination and Interpretation
1.1 HISTORICAL ................................................................... 1
1.2 DEFINITION OF “TRACE-DNA”........................................... 1
1.3 A DISCUSSION ON CONTAMINATION ................................. 4
1.4 WHY DO MISCARRIAGES OF JUSTICE OCCUR? ..................... 11
1.5 SOME FALLACIES AND ERRORS OF THINKING...................... 12
1.6 THE LIKELIHOOD RATIO ................................................... 17
1.7 THE ROLE OF THE FORENSIC SCIENTIST ............................. 19

1.1 HISTORICAL
The original DNA profiling technique developed in 1985 had relatively
low sensitivity. It was limited to the analysis of large visible crime
stains that were at least 1 cm in diameter. Improvements facilitated by
the widespread adoption of the polymerase chain reaction (PCR) method
gradually increased the sensitivity to the point that only a few cells were
required in an assay (Gill et al., 2000). At first this development was
regarded as controversial, but now, the analysis of “trace-DNA”1 has
become routine. This book is about the interpretation of DNA profiles
derived from “trace-DNA” evidence.

1.2 DEFINITION OF “TRACE-DNA”


The term “trace-DNA” was used in a recent review by van Oorschot et al.
(2010):

Trace-DNA samples may be defined as any sample which falls below recom-
mended thresholds at any stage of the analysis.

I have modified this definition simply because this type of analysis is now
universal. It has been motivated by the introduction of new biochemistry and

1 Encompasses “low-level” DNA, “low-template,” or low-copy-number DNA.


2 Misleading DNA Evidence

instrumentation over recent years. Manufacturers compete with each other


to develop the most sensitive methods and forensic scientists readily adopt
the new systems, along with protocols that now standardize tests.

Therefore, I have altered Oorschots definition of “trace-DNA” to take


account of this change in practice. The key to the definition is whether a
DNA profile is meaningful within the context of the “Locard’s exchange
principle”: “every contact leaves a trace” and its implied extension to:
“every perpetrator leaves a trace.”

Accordingly, I have redefined as follows:

Trace-DNA is defined as any sample where there is uncertainty that it may be


associated with the crime event itself—so that it is possible that the transfer may
have occurred before the crime event (innocent transfer) or after the crime event
(investigator mediated).

The definition is deliberately vague: it hinges upon an assessment of the


relevance of a “trace-DNA” profile to the crime event which is considered
in the context of a “statement of limitations” originally published in 2001
and reproduced below.

1.2.1 “Trace-DNA” Evidence: Statement of Limitations


(Gill, 2001)
This is the “starting” position:

1. Although a DNA profile has been obtained, it is possible neither to


identify the type of cells from which the DNA originated, nor to state
when the cells were deposited.
2. It is not possible to make any conclusion about transfer and persistence
of DNA in this case. It is not possible to estimate when the suspect last
wore the [watch],2 if it is his DNA.
3. Because the DNA test is very sensitive, it is not unexpected to find
mixtures. If the potential origins of DNA profiles cannot be identified,
it does not necessarily follow that they are relevant to this case, since
transfer of cells can occur as a result of casual contact.

The definition of “trace-DNA” will encompass a large proportion of crime


samples that are currently processed within DNA laboratories. It will include

2 This statement was originally used in relation to DNA evidence found on a watch found at
a crime scene.
Definitions: Contamination and Interpretation 3

all low-level DNA profiles, for which there is no concurrent body fluid that
has been identified with certainty (Section 1.5).

1.2.2 Assessment of “Trace-DNA” Evidence in the Context of the


Case: “The List of Possibilities”
With some cases (examples described later in the book) it will not be
possible for a scientist to go beyond the “statement of limitations.” The pros-
ecution will nevertheless “push” the scientist to associate the “trace-DNA”
evidence with the crime event “activity”; the challenge is to refrain from
overstepping boundaries of knowledge—i.e., to imply that the evidence has
more meaning than it really does—this is how miscarriages of justice occur.

The second step is to explain all of the different possibilities describing


how a “trace-DNA” may be transferred, without expressing any preference.
The list should be fully inclusive—just because the scientist believes that a
particular mode of transfer is remote, it is not a reason to omit it from the
list of possibilities:
1. The “trace-DNA” profile was transferred during the crime event itself.
2. The “trace-DNA” profile was part of the background contamination of
the crime scene (innocent transfer).
3. The “trace-DNA” profile was a post crime scene contamination event
(investigator-mediated contamination).
The list can be subdivided or expanded further to take account of the
specific case circumstances. The next question evaluates whether the various
possibilities can be ranked in order of “likelihood.” This is the most difficult
part of the exercise and much caution is required to take the interpretation
toward an opinion on the “activity” that led to the transfer of the “trace-
DNA” profile. Whether this is possible is very case specific, but provided
that there are sufficient experimental data that are relevant, underpinned by
peer-reviewed literature, and provided that there is a good understanding
about the background and investigator-mediated contamination, then it may
be possible to provide some further meaning to the “trace-DNA” evidence.

Chapter 3 provides a detailed exemplar framework to assess “trace-


DNA” evidence from underneath fingernails. This is probably the best-
researched evidence type; probabilistic assessments can be made to describe
the likelihood of a transfer event via each of the possibilities. The research to
date shows the inherent unpredictability of DNA transfer at the crime scene
that is influenced by numerous variables which are difficult to evaluate and
to quantify.
4 Misleading DNA Evidence

Sometimes forensic scientists may try to find meaning in the absence of a


DNA profile, to prove a negative: e.g., “Mr X was not in the room because I
could not find his DNA.” This is a specious argument. Absence of evidence
is not evidence of absence.

1.3 A DISCUSSION ON CONTAMINATION


DNA is everywhere in the environment. A DNA profile cannot be inter-
preted under the strict confines of “Locard’s exchange principle” as there are
several alternative transfer methods other than direct “contact.” DNA can be
transferred from one place to another—either by other people or in aerosol
suspension, as house dust, composed of dead-skin-cells, for example, first
demonstrated by Toothman et al. (2008) who concluded:

even though anti-contamination measures may be in place at a crime scene and


in the laboratory, trace DNA derived from dust in the vicinity of other evidence is
capable of producing signals higher than background noise in STR analyses.

1.3.1 Mechanisms of DNA Transfer


There are three different mechanisms whereby DNA may be transferred
between surfaces, people, or objects. These methods are exhaustive (i.e.,
I can’t think of another method), but they are not mutually exclusive—
more than one mechanism may occur either simultaneously or at different
times.

1. Direct transfer: Directly touching a surface object or person. No interme-


diary is involved.
2. Aerosol transfer: Transfer to a person, surface, or object is achieved
without an intermediary. Examples are exhaling or speaking where
saliva spray is transferred from a person to a surface, object or another
person. Another example is skin cells which are continually shed into
the environment. An intermediary is not involved with this method of
transfer.
3. Indirect transfer (or secondary transfer): Where a DNA profile initially
deposited either by direct means or by aerosol is transferred via an
intermediary who touches the DNA profile and transfers “sticky-DNA”
to another surface, object, or person. The definition includes transfer
between two objects that physically touch each other. Multiple transfer
events, where a DNA profile may be transferred by indirect method more
than once may occur. An intermediary is always involved with indirect
transfer.
Definitions: Contamination and Interpretation 5

1.3.2 Relevance of DNA Transfer at the Crime Scene


It is usually necessary to interpret the relevance of the DNA profiles
recovered from the crime scene in relation to the crime event itself.
Here, DNA transfer is described as either active (relevant) or passive (not
relevant):

1.3.2.1 Active Transfer


Active transfer is associated with direct transfer of DNA during the crime
event itself—e.g., by sexual assault and transfer of sperm to the victim; a
victim scratches an assailant and a DNA profile is transferred underneath
fingernails (Chapter 3).

1.3.2.2 Passive Transfer


1. Passive transfer results in the “background” distribution of DNA profiles
that pre-exists the crime scene. The population of DNA profiles is derived
by any of the following mechanisms which are described above:
• Direct transfer
• Aerosol transfer
• Indirect transfer
2. Once the crime scene is established, the investigator may inadvertently
act as a vector to passively transfer DNA within the immediate environ-
ment (Section 1.3.7)
3. These risks extend to collection of items, their packaging, examination
in the laboratory, storage, re-examination where indirect passive transfer
may act to redistribute DNA profiles within and between items of
evidence (Section 1.3.3).

1.3.2.3 Summary of DNA Transfer Methods


In summary, there are six exhaustive methods or “states” to describe DNA
transfer, as listed below:

1. Active, direct: Describes relevant transfer from the perpetrator at the time
of the crime event.
2. Active, indirect: This “state” is probably not significant since it describes
relevant secondary transfer at the time of the crime event.
3. Active, aerosol: For example, transfer from perpetrator via saliva spray
from exhaling, shouting.
4. Passive, direct: Innocent touching, not associated with the crime event.
5. Passive, indirect: Innocent secondary transfer.
6. Passive aerosol: Innocent transfer via speaking, exhaling, skin cells.
6 Misleading DNA Evidence

For any recovered “trace-DNA” profile, the actual method will not be known
with certainty.

1.3.3 Aerosol Transfer at the Crime Scene and Between


Packaged Items
• Where airborne-DNA is transferred to a surface. It has been demonstrated
that speaking or coughing will result in transfer of DNA up to 180 cm
distance from the contributor (Finnebraaten et al., 2008; Port et al., 2006;
Rutty et al., 2003). It has been previously proposed that airborne passive
transfer is responsible for contamination of plasticware (supposedly DNA
free) (Gill et al., 2010), either in the laboratory itself or at manufacturing
source. DNA can be recovered from “house-dust,” hence it would be
expected to be in suspension in the air. However, from the limited amount
of work that has been carried out (Vandewoestyne et al., 2011; Witt
et al., 2009), this does not appear to be a major mechanism of cross-
contamination.
• Aerosol transfer has been convincingly demonstrated to occur between
case items that are loosely packed together, e.g., heavily contaminated
blood on clothing will transfer to other objects that may be packed
separately (Goray et al., 2012a). Classified as “passive transfer” as it
is not physically mediated by an individual. Visible encrusted body
fluid stains readily produce aerosol flakes upon disturbance and this
is particularly “dangerous” within the confines of loosely packaged
material. This phenomenon will be particularly relevant to “cold” cases;
these are unsolved crimes, where the items were collected, stored, and
examined under conditions that did not anticipate highly sensitive DNA
profiling methods. As technology progresses, these cases are sometimes
reanalyzed in an attempt to discover perpetrators. Each time the case is
re-examined, the risks are increased because of the added disturbances.
If items from a known suspect have been kept together with questioned
items from a case, then it is to be expected that cross-contamination will
occur between them. The “statement of limitations” (Section 1.2.1) will
apply to all such cases; the possibility of cross-contamination would rank
highly (see Section 2.3.3).

1.3.4 Indirect (Secondary Transfer) at the Crime Scene


There are excellent experimental designs to illustrate the risks of secondary
transfer described by a series of papers by Goray et al. (2010a,b, 2012b).
These articles also serve as reviews of the literature, not reproduced here.
These papers show that secondary transfer is dependent upon the type of
Definitions: Contamination and Interpretation 7

surface (porous or smooth), and also whether the samples are wet vs. dry.
It was shown that porous/dry samples were less likely to transfer DNA
than smooth/wet samples. Friction between two surfaces aided secondary
transfer.Skin cell transfer is of particular interest, since this is the cell type
that is most likely to be inadvertently transferred at crime scenes. Goray
et al. (2010a) showed that just 2 ng of skin cell DNA were required to
transfer 1 ng to be retrieved from another surface. A review of the literature
showed that a handprint deposited between 0 and 385 ng of DNA—i.e., there
was usually more than enough to be realistically implicated in the possibility
of secondary transfer. In addition, it was shown that latex gloves worn by
investigators at crime scenes are “high risk” in this respect (Poy and van
Oorschot, 2006; Szkuta et al., 2013) (Section 5.13.3). It is important to note
that the published literature has focussed on retrieval of DNA profiles of
1 ng or more, which is reflective of “traditional” DNA profiling methods.
However, the examples that are examined in this book include the retrieval
of much lower amounts of DNA—these are typically low-level, partial
DNA profiles that are routinely reported using enhanced PCR amplification
cycles, or the new, more sensitive multiplexes and platforms that are
currently utilized.

Since the new methodologies are in the region 20 times more sensitive
than those previously considered, there is an urgent need to carry out new
research, following the experimental design of Goray et al., in order to
properly quantify the risks of the new technologies that have already been
implemented—Ballantyne et al. (2013) reported greatly increased detection
of background contamination on surfaces and equipment associated with
laboratory analysis. Profiles that are demonstrably low-level, partial, and in
admixture with other contributors should always be considered as potential
background contamination.

1.3.5 The “Natural Environment” of the Crime Scene


The “natural environment” of the “crime scene” is defined by background
DNA distribution that existed before the crime event. After the crime event,
a crime scene is established. The purpose of the investigation is to determine
the differences between the DNA distributions of the “natural environment”
from the new distributions imposed by the crime event itself. Apart from the
complications arising from the “background contamination,” investigators
may themselves contaminate the crime scene—this is called “investigator-
mediated contamination.” The transfer mechanisms were described in
Section 1.3.1.
8 Misleading DNA Evidence

Background contamination is unavoidable and must always be taken into


consideration when a crime scene is investigated.3

Investigator-mediated contamination is theoretically avoidable, but in


practice it will be difficult to preclude the possibility. The two main types of
contamination are summarized below.
1.3.6 Background Contamination
People who inhabit premises, along with their visitors, will shed their
DNA so that it will be all pervasive in the environment. It will be present
on surfaces as “sticky-DNA” and in aerosol as skin cells which form
a component of “house dust” or saliva spray generated by exhaling or
speaking.4 It can be propagated either by passive or active transfer as
outlined above. Background contaminating DNA remains intact for months,
if not years after deposition, provided that the environment is dry and
undisturbed (Raymond et al., 2009).

1.3.7 Investigator-Mediated Contamination


This kind of contamination is outside the “natural environment” of the case.
It is mediated by investigators who unwittingly contaminate the crime scene
with their own DNA—this is usually detected if investigator DNA databases
are kept. However, the second form of investigator-mediated contamination
is more serious—disposable paper suits and gloves intended to prevent
DNA transfer from the wearer may inadvertently transfer “sticky-DNA”
from one part of the crime scene to another (e.g., by not changing gloves in
between examination of items). Once items are packaged and transported for
analysis, e.g., a knife or some clothing, “aerosol DNA” can redistribute itself
both within and between poorly packaged evidential items (Goray et al.,
2012a). Laboratory contamination includes contamination of plasticware
and reagents, either at the manufacturing source or within the laboratory
itself (Gill et al., 2010; Tamariz et al., 2006).

1.3.8 A Theoretical Example to Illustrate the Various Transfer


Mechanisms
Routes of contamination relative to a time line are illustrated in Figure 1.1.
At a premises, several people cohabit a house. They and their visitors
shed DNA by passive transfer. Three profiles are deposited by individuals

3 Currently, there is insufficient research and guidance to recommend exactly how this should
be done, but I envisage a system of random sampling by transects taken from the vicinity of
the crime scene.
4 This is why investigators wear face masks.
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