Making Sense of Forensic Genetics
Making Sense of Forensic Genetics
Making Sense of Forensic Genetics
FORENSIC
GENETICS
Christopher Phillips
Researcher in Forensic Genetics
at University of Santiago de
Compostela, Spain
EUROFORGEN Consortium member
Peter Schneider
Tracey Brown Professor of Forensic Molecular
Director, Genetics, Institute of Legal Medicine,
Sense about Science, UK University of Cologne, Germany
EUROFORGEN Consortium member
4 CONTRIBUTORS 5 CONTRIBUTORS
INTRODUCTION
DNA is present in most cells of our body. It is unique to each of us, In October 2011, Adam Scott was arrested
and we leave a trail of it everywhere we go. Forensic investigators and charged with raping a woman
take advantage of this, using our DNA to draw conclusions about in Manchester, UK.
where we’ve been and who we’ve interacted with. The Adam Scott case
Swabs of the woman’s genitals revealed traces of sperm, is a good example
In popular television dramas such as The Killing and Midsomer Murders, the science
and one of these swabs yielded a DNA profile that matched of confirmation bias
of forensic DNA profiling often helps identify suspects when other lines of evidence
have gone cold. Of course DNA analysis has revolutionised forensic science in real Mr Scott’s. This was the only evidence against him. — where inconvenient
life too; helping to catch prolific murderers such as the Green River Killer (see page The forensic scientist who processed the sample said: information to the
“It is estimated that the chance of obtaining matching DNA
15); enabling the remains of those killed by mass disasters and atrocities such as prosecution is ignored
the Srebrenica Massacre to be repatriated to their loved ones; and shining a light components if the DNA came from someone else unrelated
to Adam Scott is approximately 1 in a billion”2 . But Mr Scott or dismissed. The scientist
on miscarriages of justice that have seen innocent people wrongfully convicted
of serious crimes. claimed he was in his home town of Plymouth, UK (more than assumed that because
200 miles away) at the time of the attack, and had never been sperm was recovered,
Such is the power of DNA to identify, convict, and exonerate, that many to Manchester in his life. all of the male DNA must
perceive it to be infallible. Yet DNA evidence has a number of limitations:
it might be undetectable, overlooked, or found in such minute traces as to make When challenged, the scientist claimed the DNA evidence have come from the sperm
interpretation difficult. Its analysis is subject to error and bias. Additionally, DNA provided: “strong scientific support for the view that Adam (when in fact Mr Scott’s
Scott had sexual intercourse with [the victim] rather than
profiles can be misinterpreted, and their importance exaggerated, as illustrated DNA was a spit sample).
by the wrongful arrest of a British man, Adam Scott (see page 7). Even if DNA he did not.” However, this was an error. By itself, a DNA profile
is detected at a crime scene, this doesn’t establish guilt. Accordingly, DNA needs can’t provide any information about the body fluid it came Peter Gill
to be viewed within a framework of other evidence, rather than as a standalone from, or lead to the inference that sexual intercourse took
place. Two months after his arrest, mobile phone records Professor of Forensic
answer to solving crimes1. Genetics, University of Oslo
came to light that corroborated Mr Scott’s version of events;
Forensic scientists take great care to minimise errors, by ensuring their methods revealing that his mobile phone had been used in Plymouth
EUROFORGEN Consortium
have been thoroughly tested, and that they are performed by competent people member
a few hours after the reported rape. Finally, after five months
using properly calibrated equipment and following well-controlled procedures in custody, he was released.
to prevent contamination. Even so, mistakes can happen.
A subsequent investigation revealed that Mr Scott had
The purpose of this guide is to inform readers about what’s currently possible become implicated as a result of accidental contamination
with DNA testing in forensic applications, what its limitations are, and what might of samples within the lab. The day before processing samples
be possible in future. It will explain how DNA profiles are generated, what they’re from the alleged rape victim, the lab had handled a DNA
used for, and how they can be misconstrued. It will also describe cases where sample from Mr Scott, following a ‘spitting incident’ in Exeter,
DNA has been a game changer, and turned an investigation around. We hope UK. Unfortunately the disposable plastic plate used to analyse 2
it will be a useful resource to anyone who works with, or crosses paths with DNA this sample had been inadvertently reused in the rape case, R
eport into the circumstances of a complaint
received from the Greater Manchester Police on 7
evidence in the criminal justice system. resulting in the misidentification. The true perpetrator was March 2012 regarding DNA evidence provided by
never found. LGC Forensics https://www.gov.uk/government/
uploads/system/uploads/attachment_data/
This incident highlights two important points for courts: file/118941/dna-contam-report.pdf
3
R
oth A (2010) Safety in Numbers - Deciding When
a) DNA should not be used as the sole evidence DNA Alone is Enough to Convict. New York University
in a criminal case3,4 Law Review 85: 1130
4
T
he Crown Prosecution Service (2014) Guidance
b) There is a considerable danger if the importance on Expert Evidence, p14
of the DNA evidence is inappropriately afforded 5
G
ill P (2014) Misleading DNA evidence: Reasons
greater weight than other evidence5. for Miscarriages of Justice. 1st ed. Academic Press.
1
W
ienroth M, Morling N, Williams R (2014) Technological Innovations in Forensic Genetics:
Social, Legal and Ethical Aspects. Recent Advances in DNA and Gene Sequences 8, 98-103
6 INTRODUCTION 7 INTRODUCTION
CONTENTS
INVESTIGATION
to the perpetrators of unsolved crimes, but it also raises the risk of wrongful acquittals and convictions
if appropriate safeguards are not in place.
ARREST
02 Where can we detect DNA? 16
ur DNA is everywhere. We’re constantly shedding it, passing it to other people, and moving
O
it around. This means that sometimes DNA detected at a crime scene has nothing to do with
15 17 6 7 14 18 19 22 15 15
15 15
been deposited onto a surface or object.
03 Context is key 19
7 14 18 19
DNA doesn’t solve crimes in isolation. DNA profiling is an effective investigative tool
to be used within the wider context of all other evidence in a case.
MATCH?
MATCH!
04 What are DNA databases for? 23
15
Matching DNA profiles from crime scene material with those stored in DNA databases
30 SECONDS LATER,
RESULTS ARRIVE!
LAB
LAB
statistics to convey the meaning of the strength of the evidence.
CRIME SCENE
CRIME SCENE
More information and sources.
If you see a term that’s green and bold it’s defined in our Useful Terms to Know on page 37
If you see a term that’s blue and bold it’s defined in our Techniques on page 12 CRIME FICTION REALITY
9
8 CONTENTS
01 WHAT CAN WE DETECT?
development, aims
sequencing under
Starting to be used
Next-generation
investigations currently
is beginning to be used
pool by age.
DNA is a molecule that contains genetic instructions.
2008
is identical to that of other humans. It is the remaining 0.1% that marks us out as
individuals, and is therefore of primary interest to forensic geneticists. They can use
it to generate a DNA profile from human biological material at a crime scene. This
African, Eurasian
ancestry testing
can be compared with reference DNA from a named suspect, and a probability that
Biogeographic
information
geographic
individuals.
regions eg
2005
In limited use
this means you leave a trail of DNA behind you. DNA is present in your house dust;
in the residue you leave on a glass; and in the root of the hairs stuck to your jumper.
Single Nucleotide
Everywhere you go, and everything you touch could contain traces of your DNA.
be used on very
Polymorphism
degraded DNA
eg old bones.
analysis can
Autosomal
Until around 2000, forensic geneticists would not have been able to generate
a DNA profile from such tiny samples of biological material. But as forensic DNA
2003
techniques have developed over time, their sensitivity — or their ability to detect
2001
smaller and smaller amounts of DNA — has increased. In the early days, you would
have needed a reasonably fresh sample of blood or semen about the size of a
British 5 pence piece or European 1 cent coin to generate a DNA profile6; today
2000
Low template analysis is the
most sensitive technique
sample of DNA.
so can be used on the smallest
a profile can be generated from just 50 picograms of DNA (the amount contained See diagram p11
Y chromosome analysis
each of which target different parts of DNA. Some, such as STR profiling (the most
Small invisible
common sort of DNA profiling — see the techniques table), target the nuclear DNA
light and humidity.
traces
in our chromosomes; others target the small circles of DNA found in cellular energy
of a sample.
factories called mitochondria.
The ease with which DNA profiles can be extracted from different body tissues
1996
Widely used
also varies. It is relatively easy to generate a DNA profile from blood, saliva and
semen, but extracting DNA from touched objects when often only a small number
of skin cells are present is more challenging. Full STR profiles can be generated
database
First DNA
1995
established.
from hairs, but only if they contain a root (which has intact cells attached to it). If no
1991
Autosomal Short
Tandem Repeat profiling
can generate a DNA
profile in a few hours
compared to a few
used technique currently).
days (most commonly
root is present — as is often the case with hairs recovered from crime scenes —
No longer in use
Large (2cm)
blood stain
blood groups
and proteins.
Analysis of
6
Silverman M, Thompson T (2014) Written in blood. 1st ed. Bantam Press, p297
1900
11
10 WHAT CAN WE DETECT? Size of DNA sample Technique
TECHNIQUES WHAT CAN WE DETECT?
4
This DNA profile from the crime scene is then compared with another Partial profiles In an ideal situation you’d have enough DNA to generate a full DNA
DNA profile. Eg a mouth swab taken from the suspect or victim or it may profile (eg using at least 16 loci). However, this isn’t always possible.
be compared with DNA profiles held on the national DNA database. If DNA is only recovered in small amounts, or has been degraded
by temperature, moisture, or something else, some markers may
be missing. This leaves only partial DNA profiles. The reduced number
of markers makes it more difficult to distinguish between individuals,
and the chance of a partial profile matching another DNA profile
If the two DNA profiles have exactly the If parts of the two DNA profiles have the same
same pattern of DNA, this is a full match. A B pattern of DNA this is a partial match. 15 17 6 7 14 18 19 22 15 15 is much higher.
15 17 6 7 14 18 19 22 15 15
Full profile In addition, the world is a messy place, and DNA is rarely deposited
in neat packages from a single person. If a crime scene sample contains
the DNA from two or more individuals, then it is referred to as mixed
DNA profile. Because DNA gets everywhere, all crime scene DNA
samples are potential mixtures. This isn’t a problem, unless the DNA
15 17 6 7 14 18 19 22 15 15 15 17 6 7 14 18 19 22 15 15 15 17 6 7 14 18 19 22 15 15 15 7 14 18 19 15 15 15 7 14 18 19 15 15 you’re trying to analyse is present at such low levels that it becomes
15 7 14 18 19 15 15 confused with this background DNA, or with DNA from another
Full match Partial match contributor (eg a victim). In such situations, modern computerised
Partial profile
methods enable the strength of the evidence to be calculated —
something which should be communicated to investigators and juries.
N.B. This representation of a DNA profile only show 5 pairs of numbers/peaks (genetic markers),
but full DNA profiles would actually show at least 16.
it’s so important for forensic experts to investigate a crime scene as soon as possible so that important DNA
(a) You have been there;
(b) You touched an object that was later carried to the location by someone See diagram p17
The DNA that is present in a room changes rapidly as people and objects interact within it, which is why
So DNA from individuals who have nothing to do with a crime might be present at a crime scene. DNA
else (eg an item of your clothing);
will last almost indefinitely untouched in a dry, cool environment, although activities such as cleaning
(c) You encountered a person, who soon after touches something at the
location, inadvertently leaving your DNA there (eg you shook hands
with them or you both previously touched the same surface).
2 Reality
degrade it. DNA deposited before the crime so unrelated to it is called background DNA.
DNA is transferred by body fluids, shedding skin cells, talking, coughing and sneezing.
As the sensitivity of forensic DNA tests
increases, so do the problems…
We’ve noted that when forensic DNA analysis was When there’s a serious crime,
first invented in the Eighties, a fairly large sample with very little evidence
of biological material was needed to generate a DNA
profile. But as forensic techniques have improved, their available to indicate the
ability to detect smaller and smaller amounts of DNA perpetrator, investigators may
has increased. This means that tiny, invisible traces resort to sampling areas that
of DNA can now be recovered and analysed. could have been touched
Undoubtedly, this has been beneficial in forensic by a potential suspect, such
1 Expectation
DNA profiling can be costly and distracting.
17
16 WHERE CAN WE DETECT DNA?
WHERE CAN WE DETECT DNA?
03 CONTEXT IS KEY
As forensic DNA techniques become more and more sensitive, there’s an increased The presence of DNA doesn’t necessarily tell us when or how
chance that DNA recovered from a crime scene is actually; it got there. But it can still be a phenomenally useful tool to police
(a) ackground DNA: deposited before the crime took place and unrelated
B investigations. What matters is context.
to it (see page 17);
(b) econdary transfer DNA: DNA from someone who was never there, picked
S Some types of DNA evidence are less likely to have been deposited through
up from them by contact and then left at the crime scene by another individual. innocent means than others. For example, a visible blood stain is not so easily
transferred unnoticed as an invisible smear of saliva, or a smattering of skin cells.
(c) The result of contamination by an investigator after the crime took place.
Latex gloves can carry DNA and accidentally transfer it between items and Questions such as: ‘When and how was the DNA deposited on to the surfaces
locations if an investigator forgets to change them. Other examination tools, tested?’ and: ‘How was the DNA collected by crime scene investigators?’
such as fingerprinting brushes, can also inadvertently transfer DNA between are crucial to understanding whether DNA is relevant to an investigation;
surfaces. Accidental contamination can also occur within a forensic laboratory or if it’s background DNA; the result of secondary transfer; or contamination.
(as with the Adam Scott case, see page 7). Additional context may also be provided by other, non-DNA evidence, such
as fibres, footwear marks, or fingerprints.
Shedder Status
One way in which we release DNA into our environment is through the constant shedding of skin Activity and context
cells onto our clothes and the surfaces we touch. But not everyone does this at the same rate. If a large, visible, sample of body fluid, such as a blood stain, is found at a crime
People who shed lots of skin cells — possibly because of a skin condition such as eczema, scene, then it is easy to obtain DNA from it. And if that blood is found on smashed
dermatitis, dandruff, or even sunburn — are known as ‘high status shedders’ and are more likely window glass, say, then there is a good chance it is relevant to the investigation. The
to deposit DNA. For instance, a recent study found that people with atopic dermatitis shed four suspect may have cut himself while breaking into the property, for example. In other
times as much DNA as healthy individuals10. Conversely, a ‘low status shedder’ is less likely words, the evidence is considered relevant because it is directly associated with See diagram p20
to deposit DNA. But not everyone does this at the same rate and it will also vary within the same the activity of the crime — in this case breaking a window. Contrast this with a DNA
person at different times. profile taken from a surface, such as a kitchen table, where there’s no identifiable
body fluid. It is more difficult to propose an activity that could explain its presence
because of the lack of context.
Another important change that has come with advances in forensic DNA techniques
is that when invisible samples are used to generate a DNA profile, there’s usually So… DNA alone doesn’t solve crimes. It’s an important detection tool, but it’s
no information about which body tissue it came from, or when the DNA was deposited. certainly not a detective.
When larger amounts of DNA were needed to generate a DNA profile, it was usually
possible to run other tests to determine whether a fluid was saliva or semen, say. And
in the case of blood, its colour could provide clues about how fresh it was. These tests
can’t be done on really small biological samples, but DNA can often still be detected.
Other types of forensic evidence can provide important corroboration
WHEN COULD DNA BE DEPOSITED? of DNA results, and vice versa. As an example: fibre analysis depends on having
a reference sample from the textile source. If fibres have been recovered from
Before the crime: During the crime: After the crime: a victim not matching the victim’s clothes, there is not much that can be done.
Background DNA Perpetrator’s DNA Potential contamination However, these fibres may suddenly become informative if a suspect has been
Secondary Transfer
identified by DNA profiling, and clothes are found in the suspect’s apartment
Time matching the fibres from the victim. Then you have corroborative evidence.
Investigators Peter Schneider Professor of Forensic Molecular Genetics, Institute of Legal Medicine,
arrive and Lab Analysis University of Cologne
Crime Discovery detect DNA analysis complete EUROFORGEN Consortium member
10
Kamphausen T et al (2012) International Journal of Legal Medicine 126(1): 179-83
was tiny, but enough to generate a hit against the UK’s DNA database (see next chapter),
DNA on the knife blade. Methods used to collect and store the evidence were also found
of secondary DNA transfer — or they had been transferred to her through other innocent
However, you knew the victim, and often visited him, so your DNA could have been there
However, Mr Butler’s defence team queried precisely how that DNA got onto the victim’s
In the final judgement, the court accepted the defence version of events and exonerated
of the dry skin condition he suffered from, and suggested that perhaps some of his skin
to be sub-standard, so the DNA could also have got there through cross-contamination.
sex worker Anne Marie Foy, it seemed like an open and shut case. It was presumed that
nails. They established that he was sometimes known by the nickname “flaky”, because
park near Liverpool city centre in September 2005. The amount of DNA found by police
A man is attacked by someone wearing a mask, while walking home from a party. Your
with the victim, but you both poured a glass of wine from the same bottle. This caused
though other evidence was lacking, the DNA evidence was enough to see him charged
she co-habited with Ms Kercher, there was a ready explanation for the presence of her
contained small traces of Ms Kercher’s DNA on the blade, and a DNA profile from Ms
of circumstances, while ignoring other possibilities. For instance, Ms Knox could have
used the knife to cut bread (starch grains were also observed on the blade), and since
transferred to the knife when Ms Kercher was stabbed with it, although no blood was
Ms Foy had torn at his skin as he hit and strangled her, before dumping her body in a
detected. Possibly, this was because the knife was cleaned with bleach, they argued.
cells had transferred to bank notes that were later used to pay Ms Foy — an example
Knox was recovered from the handle. Prosecutors suggested that that the DNA was
Meredith Kercher was stabbed to death in Perugia11, Italy, in 2007, and her flat-mate,
man is found dead at his home, and your DNA is recovered from the crime scene.
This is a classic example of confirmation bias, (see Adam Scott case, see page 7),
identifying Mr Butler as the source. He denied ever having met the victim, but even
your DNA to be transferred to their hands. This is known as secondary transfer.
for weeks before he was killed. This is known as background DNA.
ill P (2016) Analysis and implications of the miscarriages of justice of Amanda Knox and Raffaele Sollecito.
with murder.
Secondary transfer?
Background DNA?
SECTION HEADING
IS KEY
A
CONTEXT
Scenario
Scenario
example
example
Real-life
Real-life
21
12
11
WHO ARE WE DISCOVERING AT THE SCENE? HOW DID MY DNA GET THERE?
DNA is everywhere and context is everything. There have been major developments in the techniques for identifying individuals
from samples of DNA. Since the 1990s tests to detect invisible DNA have been developed. Yet, this ability to measure smaller microgram = one millionth of a gram
and smaller samples has come with problems. With invisible traces it is not always possible to know whether the DNA came nanogram = one thousand millionth
from a body fluid, skin or hair. There is also no time stamp on DNA whereas a visible stain eg blood might give some indication of a gram
of when it appeared. So, as techniques have improved, the importance of evaluating DNA in context of other information picogram = one thousand billionth
and evidence has also increased. of a gram
one cell = 6 picograms
Sample size
A large visible trace; BLOOD STAIN A small visible trace; a tiny STAIN A small invisible trace (could be from A very small invisible trace; a ‘touch’
(2cm) was found at the scene. (millimetre size) was found at the scene. body fluids or skin flakes), was found trace was found at the scene.
at the scene.
A large amount of DNA was obtained A small amount of DNA was obtained A very small amount of DNA was
from the stain (some micrograms). (some nanograms) from the stain. A small amount of DNA was obtained obtained (less than a hundred picograms)
(several hundred picograms) from from the trace.
A DNA profile was generated and a match A DNA profile was generated and a match the trace.
with your DNA was found! with your DNA was found! A partial DNA profile was generated
A DNA profile was generated and a match and a match with your DNA was found!
The type of body tissue Using a screening test it is
with your DNA was found!
(blood) is known and a very general possible to identify the type of body The type of body tissue cannot
idea of how old the blood stain can tissue from the stain eg blood, semen The type of body tissue cannot be determined without consuming
be estimated (range: hours vs days). or saliva without ‘consuming’ the trace. be determined without consuming the the trace (using the entire sample)
This means some of the DNA remains trace (using the entire sample) in the test in the test because there are currently
It’s highly likely you were
intact for future tests. because there are currently no screening no screening tests for invisible traces.
there at the time, or recently.
tests for invisible traces.
Highly likely you had been Were you there or not?...
You were at the premises
to the premises where the crime was Were you there or not?... Unsure. An invisible trace could have been
— you cut yourself on broken glass.
committed (but not necessarily recently). Unsure. An invisible trace could have been left during the crime, before or after or you
left during the crime, before or after, or you may have never been at the crime scene.
You’d had a nose bleed
may have never been at the crime scene.
in the morning, then went to the premises The victim touched the same
in the afternoon and sneezed. The crime You had drunk from a glass glass as you at a pub before he/she was
was committed in the evening. at the premises, but it could have attacked (secondary transfer).
been days or even months before
(background DNA).
Importance of context
20 CONTEXT IS KEY
04 WHAT ARE DNA DATABASES FOR?
Contamination?
Scenario As a security guard, you had legitimate access to a building, before a stabbing took place
there. The police investigator wore plastic gloves to recover a knife from the crime scene, Once a DNA profile has been generated from crime scene material,
but first touched a door handle that you had also previously touched. As a result, your the next step is to compare it to DNA profiles of known individuals
DNA was accidentally transferred to the knife. This is known as contamination.
in order to find a match — eg to a known suspect. Or in many cases,
where no suspect has been identified, this will involve searching a
Real-life Farah Jama, was wrongfully convicted of raping a woman in Melbourne, Australia, DNA database.
example in 2008 and spent 15 months in prison after a sample of his DNA had contaminated
a sample taken from the alleged rape victim13. The mistake is believed to have occurred Most European countries have their own national DNA database. The
because 28 hours earlier, the same forensic medical officer had taken a DNA swab from circumstances under which an individual’s DNA can be taken, and whose
a woman with whom Mr Jama had had sex (no charges were made)14. The precise DNA profiles can be retained on such databases vary widely between different
mechanism of contamination is unknown, but as the two samples were not ‘mixed up’, countries. In many places, samples can be taken on arrest, but DNA profiles can
it is most likely that the examination room or the equipment used were not cleaned. only be retained for a short period of time - unless the person is convicted of a
serious crime. In other countries, DNA profiles can be retained from individuals
convicted of any offence. National DNA databases also hold DNA profiles retrieved
from crime scenes, in case someone whose DNA isn’t currently on the database
is arrested in the future. This also enables investigators to link crimes which may
have been committed by the same person.
Although many national DNA databases are large, they don’t contain DNA from
everyone living in a country. This means that even if DNA is retrieved from a crime
scene, unless the perpetrator’s DNA is already in the database, it won’t necessarily
generate a ‘hit’ — or match.
The UK national DNA database (NDNAD) was launched in 1995 and holds 5 million DNA profiles
from individuals, (plus about half a million crime scene profiles) — equivalent to nine percent
of the UK population — (or 14% of the male population since 80% of profiles are from men)15.
About 40 vetted home office officials have access to the database. Police forces do not have
access, although they own the records on the database and receive notifications of any matches.
The database can only be used to prevent and investigate crime, to prosecute those accused
and to identify deceased persons16.
The UK NDNAD generates matches or hits for more than 32,000 crimes per year.
In 2014/15, the chance of a crime scene profile matching a subject on the database was 63.2%.
Even so, the likelihood of crime scene DNA being retrieved and sent for testing is low,
and forensic analysis tends to be reserved for serious cases eg homicides. For example,
in 2014/15, crime scene investigators were sent to look for forensic evidence in 96% of homicide
crime scenes, and found DNA at 65% of those examined, whereas they were only sent to 27%
of vehicle thefts, and just 30% of these yielded DNA evidence.
13
I nquiry Into the Circumstances that led to the Conviction of Mr Farah Abdulkadir Jama 15
http://www.parliament.vic.gov.au/papers/govpub/VPARL2006-10No301.pdf ational DNA Database Strategy Board Annual Report 2014/15 https://www.gov.uk/government/uploads/system/uploads/
N
14 attachment_data/file/484937/52921_NPCC_National_DNA_Database_web_pdf.pdf
http://www.smh.com.au/national/dna-fiasco-rape-conviction-quashed-20091207-kfc3.html 16
(accessed January 2017) ffice for National Statistics: United Kingdom population mid-year estimate https://www.ons.gov.uk/
O
peoplepopulationandcommunity/populationandmigration/populationestimates/timeseries/ukpop/pop (Accessed January 2017)
24 WHAT ARE DNA DATABASES FOR? 25 WHAT ARE DNA DATABASES FOR?
WHAT ARE DNA DATABASES FOR?
05 THE MEANING OF A MATCH
24
F
amilial Searching, inferring ethnicity and research uses http://nuffieldbioethics.org/wp-content/uploads/
Bioinformation-Chapter-6-Familial-searching-inferring-ethnicity-and-research-uses.pdf
25
N
ational DNA Database Strategy Board Annual Report 2014/15 https://www.gov.uk/government/uploads/
system/uploads/attachment_data/file/484937/52921_NPCC_National_DNA_Database_web_pdf.pdf
26
http://thejusticegap.com/2011/12/what-price-justice-the-cardiff-3/ (Accessed January 2017)
A likelihood ratio weighs the evidence in favour of competing ‘stories’ Calculating complexity
(or hypotheses), one from the prosecution perspective and one from the defence.
It compares how probable the observed evidence is under each story. Because of the complexity of the calculations – particularly once several people’s
DNA gets mixed together — DNA analysts now use specially designed computer
So in the case of a DNA profile from a sample of blood, you would be looking at: programs. Just like the physical methods of analysing DNA, these programs need
a) Assuming the blood comes from the suspect, what is the probability to be validated to ensure they have been properly formulated and use theory that
of seeing the match? is widely accepted by the scientific community.
b) Assuming the blood was someone else’s, what is the probability of seeing A number of such programs are in use around the world, but because different
the match? programs are prepared using different mathematical approaches and assumptions
about the data, they can give different values for the likelihood ratio. There
The likelihood ratio is obtained by dividing (a) by (b). If the answer is larger than one
have been cases where the prosecution has used one program and the defence
the prosecution’s version of events is better supported; if it’s lower than one then
another, meaning the court has been presented with two different answers about
the defendant’s is.
the strength of the DNA evidence. Usually the difference is only small, but cases
The guidance given alongside is usually: where one program favours the prosecution and another favours the defence are
obviously important and need further investigation.
Ratio Expert guidance: the forensic findings… It is important to note that several computer programs have been developed by
commercial companies, and may not be as available for use by defence experts
1 ... do not support one proposition over the other
because they have less money to pay for them. This could make it difficult
2-10 ... provide weak support to scrutinise how the prosecution generated its statistics. Since open source
software is freely available and is more transparent, there is currently a debate
10-100 ... provide moderate support within the forensic community on the relative benefits of commercial vs open
100-1,000 ... provide moderately strong support source software.
Remember: DNA doesn’t give ‘yes’ or ’no’ answers, but rather enables Ideally, analytical techniques used in forensic science should be validated before
us to assess probabilities. So DNA evidence can be very strong, very weak they’re allowed into court. For a method to be validated it must have a scientific
and everything in between. backing that is underpinned by peer reviewed papers in the scientific literature. An
important part of testing is to show that when a completely unconnected individual
is compared with the ‘crime stain’ DNA profile, the likelihood ratio obtained is well
below 1 and never very high. Any limitations of the test must also be made clear.
The most important feature distinguishing DNA profiling from other non-DNA
forensic identification techniques is that for DNA profiling we can base calculations
on the exceptionally well understood established theory of genetics. No such
underpinning theory is available for most non-DNA forensic techniques.
27
E
NFSI Guideline for Evaluative Reporting in Forensic Science http://www.forensic-isotopes.org/assets/
ENFSI%20Guideline%20Evaluative%20Reporting%20March%202015.pdf
Once a suspect pool has been narrowed down to this final group, first DNA samples are taken from each
of these individuals. Their DNA profiles are generated and then compared to the DNA profile obtained from the
28 crime scene to see if there is a match. If no match is found the next group up is tested and so on. These groups
ayser M (2015) Forensic DNA Phenotyping: Predicting human appearance from crime scene material
K
for investigative purposes. Forensic Science International: Genetics 18: 33-48 enable investigators to prioritise which individuals in a population to screen. This is a much more practical
and cost effective than simply taking samples from the whole population (which is the alternative approach).
30 PREDICTING APPEARANCE AND BIOGEOGRAPHIC ANCESTRY FROM DNA 31 PREDICTING APPEARANCE AND BIOGEOGRAPHIC ANCESTRY FROM DNA
PREDICTING APPEARANCE AND BIOGEOGRAPHIC
ANCESTRY FROM DNA
Can DNA tell what the face of a suspected criminal looks like? The face of litter?
It is currently possible to predict eye and hair colour from a DNA sample — although
none of these tests are 100% accurate. Some of these tests have been forensically Behind every piece of litter is a person who dropped Some physical traits, such
validated (see page 31), and the results of these studies published in scientific See diagram p31 it. So when Hong Kong launched an initiative to tidy as skin colour, are closely
journals. Skin colour is likely to be the next appearance trait that forensic scientists up its streets, it tried to shame litterbugs by plastering
reconstructions of their faces on billboards across the associated with commonplace
will be able to predict from DNA — tests are currently being developed and validated.
city. The information for these facial reconstructions understandings of biogeographic
However, knowledge about the genetic basis of any other physical traits is not yet came from DNA, which had been retrieved from ancestry, ‘race’, or ‘ethnic identity’.
advanced enough for them to be predicted from a DNA sequence. In particular, discarded items such as chewing gum or cigarette
the genetics of human facial structure is highly complex, and the scientific studies Because of this, care needs
butts, and sent to a USA-based company for forensic
that have been published in this area have identified only a few out of the hundreds to be exercised in the application
DNA phenotyping.
or possibly thousands of genes that scientists expect to be involved — each with of forensic DNA phenotyping
a very small effect. It made predictions about their sex, hair, skin and eye so that police inquiries are
colour, freckling, biogeographic ancestry, and facial
This hasn’t stopped a USA-based company from marketing a service to reconstruct shape. Some of these things can be predicted from not seen as reinforcing racial
a face from DNA. The company has not yet published information about its DNA, but eg black hair is almost universal within stereotyping and perceptions
methods (in a peer reviewed journal), nor a validation study which is particularly the population of Hong Kong. However, facial shape of unequal treatment amongst
important in forensic science (see page 29). Yet some police forces have started cannot currently be predicted from DNA because
using these facial reconstruction tests, which has been covered uncritically minority communities.
it involves the complex interplay of very many genes
in the news. (see page 32). Robin Williams
Forensic DNA phenotyping raises some ethical issues too. The campaign conveyed the idea that DNA from
Whereas standard forensic DNA profiling involves genetic Professor of Forensic Science
rubbish could be used to reconstruct what the person Studies, Northumbria University,
markers found in parts of the human genome that are not who dropped it looks like; that they would be found Newcastle-upon-Tyne
within genes (non-coding regions), the markers used in forensic and prosecuted. The reality is quite different. EUROFORGEN Consortium
DNA phenotyping are located within or close to genes involved member
in the externally visible trait being predicted (coding regions).
If forensic DNA phenotyping techniques were extended Currently, eye colour, hair
to also include non-visible characteristics, such as genetic colour and skin colour
risk of disease, they could reveal personally sensitive, private can be predicted reliably
information, to whoever is doing the testing — which could
be of interest to medical insurance companies or certain and with practically useful
employers. This can be avoided through regulation, eg in the accuracy from crime
Netherlands, where externally visible characteristics are legally scene DNA, but not yet The idea that a person’s face is reconstructed from DNA traces alone,
allowed to be used in forensic DNA phenotyping, but non-visible any other externally visible and the result publicly displayed as a ‘photo-fit’ to aid police investigations
disease traits aren’t. is disconcerting. DNA analysis may be able to predict but cannot determine
characteristic.
When DNA is used to make predictions about what a suspect the actual likeness of a person. However, some may take such images at face
looks like, this will result in estimates of probability and error value. This could lead to endangering or stigmatising groups of people who may
for each predicted trait, meaning that the weight of this type Manfred Kayser
be considered to look similar to such DNA-generated images, even though they
of evidence can be assessed quite well. It’s important that Professor of Forensic Molecular
police understand the differences between standard forensic are not remotely connected to a crime, or may be innocent.
Biology, Erasmus MC University
DNA profiling — which can identify individual DNA profiles that Medical Centre, Rotterdam Matthias Wienroth Research Fellow in Social Science, King’s College London
match -- and forensic DNA phenotyping — which can’t identify EUROFORGEN Consortium
individuals yet, but provides information that allows individuals member EUROFORGEN Consortium member
to be placed into groups defined by specific visible traits
and biogeographic ancestry.
Predicting biogeographic ancestry However, forensic DNA phenotyping has also been
A number of genetic markers (known as ancestry informative markers) have a game changer
been discovered that are much more common among people from some parts Eva Blanco case, 1997
of the world (eg Africans) compared to others (eg Europeans). These can be used
to predict an individual’s biogeographic ancestry, i.e. the broad geographic region Eva Blanco Puig was a 16-year-old Spanish high school student, who was raped
their biological ancestors originated from. For now, the available tests that are and murdered in Algete, near Madrid in 1997. Police made an application to take
suitable for crime sample analysis can only reliably predict to which of the major DNA samples from men in Algete, including relatives and acquaintances, in the
continental groups a person belongs i.e. African, Western Eurasian, East and South hope of identifying the killer, but the application was turned down. In 2015, semen
Asian, or Native American. They cannot say which country someone comes from. recovered from Ms Blanco’s body was subjected to forensic DNA phenotyping,
revealing that the perpetrator was likely of North African origin. So investigators
The terms ethnicity and race are sometimes used interchangeably with narrowed their search, focusing on men from this group who were living in the
biogeographic ancestry, but strictly, ethnicity reflects a person’s social and cultural area in 1997. They took DNA samples from 300 willing volunteers, including two
background, which cannot be detected from DNA. However a person’s ethnicity brothers who gave partial matches with conventional DNA profiling. This led them
may be strongly associated with their biogeographic ancestry which to some to a third brother, Ahmed Chelh, who was arrested and charged with the murder
extent can be informed by DNA. The term ‘race’ refers to a largely outmoded in October 2015 32 . The case was never heard in court; Mr Chelh was found dead
concept of human classification. in his cell in January 2016.
29
B
alding D, Weale M, Richards M, Thomas M (2010) Genetic and isotopic analysis and the UK Border Agency.
Significance 7: 58-61
30
T
utton R, Hauskeller C, Sturdy S (2014) Suspect technologies: Forensic testing of asylum seekers at the UK
border. Ethnic and Racial Studies 37(5): 738-52
31
P
hillips C (2015) Forensic genetic analysis of bio-geographical ancestry. Forensic Science International:
32
Genetics 18: 49-65 h
ttp://elpais.com/elpais/2015/10/04/opinion/1443970167_046935.html (accessed January 2017)
34 PREDICTING APPEARANCE AND BIOGEOGRAPHIC ANCESTRY FROM DNA 35 PREDICTING APPEARANCE AND BIOGEOGRAPHIC ANCESTRY FROM DNA
FINAL THOUGHTS FROM EUROFORGEN USEFUL TERMS TO KNOW
DNA profiling is a powerful tool, both for securing criminal Autosomal DNA Likelihood Ratio
convictions, and excluding or exonerating the innocent. DNA from the 22 pairs of non-sex chromosomes, A statistical calculation that summarises the
found in the cell nucleus. relative support for two hypotheses provided
Yet its story is far from complete. Forensic genetics continues to be an innovative,
by some evidence. When the likelihood ratio is 1,
dynamic and evolving field of research, and the amount of information that can
Confirmation bias the evidence available provides equal support
be gleaned from the tiniest traces of DNA continues to grow. It is time to take
for both hypotheses. (Formally, it is the ratio
stock of these increased possibilities, and address the challenges that enhanced The tendency to interpret new evidence as of the probability of the evidence under the
DNA analysis could bring. confirmation of one’s existing beliefs or theories. two hypotheses).
The contributors to this guide have been at the forefront of the development
of new types of forensic genetic tests. One strength of the EUROFORGEN Chromosome Locus (plural loci)
Consortium is its multi-national composition and its awareness that different
countries have adopted different strategies for processing, interpreting The human genome is composed of 23 pairs A specific, identifiable place in human DNA
and presenting complex DNA evidence. of chromosomes (46 in total), each of which where there is variability between individuals
contain thousands of genes and non-coding DNA. (genetic markers such as STRs, SNPs).
As DNA profiling continues to grow more sensitive, and it is used in more
investigations, the need for accurate communication between scientists and non-
scientists only grows - both to ensure that their expectations of the technology are DNA Mitochondrial DNA (mtDNA)
realistic, and its limits are properly understood. The collaboration between Sense DNA is the molecule that carries the genetic DNA from mitochondria, which are small
about Science and the EUROFORGEN Consortium aims to improve this process information of most organisms including humans. energy factories existing in the cell in numerous
and inform the public about new developments in this exciting field. copies outside of the nucleus. As there are lots
DNA profile of mitochondria in cells their DNA is present
in larger amounts and can be more easily
In the forensic context, this describes the detected when DNA from the nucleus is limited
visualisation of the genetic markers which have or degraded.
been analysed in an individual’s DNA. The most
commonly used is an STR DNA profile.
Mixed DNA Profile
Forensic analysis A DNA profile involving two or more contributors,
eg victim(s) and suspect(s).
Scientific tests or techniques relevant to legal
proceedings.
National DNA Database
Genetic Marker Most European countries have national
forensic DNA databases storing DNA profiles
Sections of the genome that can have different from unsolved criminal cases, as well as from
forms (alleles). These sections are highly variable convicted offenders. In a number of countries,
so are chosen to distinguish between individuals. such as the UK, DNA profiles from persons
These can be detected in a laboratory and used arrested but not convicted may also be stored
to generate a DNA profile. Every individual has for varying periods of time. In this guide,
two copies of each genetic marker (because we the term ‘DNA database’ refers always to these
inherit one version from our mother and one from forensic databases.
our father).
Nuclear DNA Short Tandem Repeats (STRs) Royal Statistical Society: Practitioner guides Forensic science: A sociological introduction
DNA from the cell’s nucleus, which encodes Small sections of DNA (found throughout the Four guides intended to assist judges, lawyers, Christopher Lawless (2016) draws on a wealth
the vast majority of an organism’s genes. human genome), which are made up of short forensic scientists and other expert witnesses of international research and case studies
The most common form of DNA profiling sequences that are repeated. The number in coping with the demands of modern criminal to explore the intersection of science, technology,
involves nuclear DNA (including autosomal DNA, of times this sequence is repeated (and hence litigation. law and society and examine the production
Y-chromosomal DNA, but excludes mtDNA, the length of the section), tends to differ between of forensic knowledge.
http://bit.ly/2hxZLKa
that is found outside the cell nucleus). unrelated individuals and can be measured using
STR analysis. This principle forms the basis of the
most common types of forensic DNA profiling Gov.uk DNA guidance Inside the cell: The dark side of forensic DNA
Partial DNA Profile using autosomal STRs (ie those located on the Erin Murphy (2016) probes the scientific,
An incomplete DNA profile, where some non-sex chromosomes). Each STR marker carries Brings together guidance on DNA published by the
statistical, legal, and ethical challenges presented
of the genetic markers analysed are missing. two repeats, one inherited from the mother Forensic Science Regulator.
by forensic DNA testing.
This can be because the DNA has been and the other from the father. They are identified https://www.gov.uk/government/collections/
degraded by, for example, exposure to heat, by numbers to signify the length of repeat dna-guidance
water or microorganisms, or because DNA sequences: “11 / 15” or “11 / 11”. Misleading DNA evidence: reasons
is present at such low levels that accurate marker for miscarriages of justice
Y-STRs are STRs found on the Y chromosome Genetics, technology, security and justice:
information cannot be obtained.
(male only; see below). The other sex crossing, contesting and comparing boundaries Peter Gill (2014) Elsevier. Published under
chromosome is the X chromosome; females EUROFORGEN funding. The book provides
Phenotype normally carry two X chromosomes, males carry Six Economic and Social Research Council a deep analysis of the Adam Scott, Farah Jama
one X and one Y. seminars that critically examine aspects of and Meredith Kercher cases, and describes the
The physical characteristics of an individual the contributions of forensic genetics to the utility and pitfalls of National DNA databases.
which are a result of the expression of their production of security and justice in the UK and
genes, as well as environmental factors. Single Nucleotide Polymorphisms (SNPs) other contemporary European societies.
Forensic DNA phenotyping is the prediction Another form of variability in the DNA https://www.northumbria.ac.uk/research/
Probability and statistics in forensic science
of one or more externally visible aspects of individuals, this time at a single position academic-departments/applied-sciences/ Isaac Newton Institute for Mathematical Sciences
of these physical characteristics from the DNA in the DNA sequence (rather than a repetitive wwwnorthumbriaacukforensicgenetics/ aiming to produce guidelines for reliability
eg eye and hair colour. section like with STRs).
Matthias Wienroth discusses the series in an estimates for specific forensic techniques
ESRC blog. https://blog.esrc.ac.uk/2016/11/29/ https://www.newton.ac.uk/event/fos/seminars
Y Chromosome DNA geneticstechnology-security-and-justice-the-
DNA from the Y chromosome, one of two sex social-lifeof-dna/#more-1773
chromosomes, inherited from father to son Read our guides at senseaboutscience.org
so only carried by males. It is found in the The forensic use of bioinformation:
cell nucleus.
ethical issues
Fingerprinting and DNA profiling are valuable
tools in the fight against crime, but there is a
debate about whether police powers to keep
people’s details on record are justified. Nuffield’s
report (2007) makes recommendations in areas
including the use of the National DNA Database. Find out about EUROFORGEN-NoE research
http://nuffieldbioethics.org/project/ and information resources at
bioinformation/ www.euroforgen.eu/training/online-resources/