DNA Profiling and its Evidentiary Value

Chapter 1 Introduction
Introduction
DNA profiling (also called DNA testing, DNA typing, or genetic fingerprinting) is a technique employed by forensic scientists to assist in the identification of individuals on the basis of their respective DNA profiles. DNA profiles are encrypted sets of numbers that reflect a person's DNA makeup, which can also be used as the person's identifier. DNA profiling should not be confused with full genome sequencing. It is used in, for example, parental testing and rape investigation1. Although 99.9% of human DNA sequences are the same in every person, enough of the DNA is different to distinguish one individual from another. DNA profiling uses repetitive ("repeat") sequences that are highly variable, called variable number tandem repeats (VNTR).

VNTRs loci are very similar between closely related humans, but so variable that unrelated individuals are extremely unlikely to have the same VNTRs2. The DNA profiling technique was first reported in 1984 by Sir Alec Jeffreys at the University of Leicester in England and is now the basis of severalnational DNA databases. Dr. Jeffreys's genetic fingerprinting was made commercially available in 1987, when a chemical company, ICI, started a blood-testing center in England3.

Objective
This paper deals with the recent and most effective technique of forensic science through which it become very easy to form the relation between victim culprit and scene of crime. Also it deals with, that how DNA profiling is useful as evidence.

Research questions:

1 2

Infra 8 ibid 3 ibid

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DNA Profiling and its Evidentiary Value During the search I have to find out the following questions: 1. What is DNA profiling? 2. What is the history behind DNA profiling? 3. What is the process used in DNA profiling? 4. What are the consideration kept in mind while DNA profiling? 5. What is the evidentiary value of DNA profiling? 6. Can fake DNA profiling may be done or not? 7. Conclusion

Literature:
1. Modi, Medical Jurisprudence and Toxicology 2. Parikh C. K, Text on Medical Jurisprudence, Forensic science & Toxicology 3. Nabar. B.S, Forensic Science in Criminal Investigation

Limitation:
The limitation of this study is that the research is unable to do field work due to lack of financial support.

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DNA Profiling and its Evidentiary Value

Chapter 2

Historical Development
History of DNA profiling DNA profiling, as we know it today, was developed thanks to two independent breakthroughs in molecular biology that occurred at the same time on different sides of the Atlantic. In the USA the polymerase chain reaction (PCR) was invented by Kary Mullis, while in the UK 'DNA fingerprinting' was being discovered by Professor Sir Alec Jeffreys at the University of Leicester4. In its earliest incarnation this technique was performed by restriction of 0.510g extracted DNA using the restriction enzyme HinFI, followed by Southern blotting hybridisation designed to bind to multiple 'minisatellites' present in the restricted DNA.5 This multi-locus probing (MLP) technique would result in probes binding to multiple independent DNA fragments at the same time giving rise to the traditional 'bar-code' pattern that is often visualised when we think of forensic DNA analysis, even today. Differences in the number of times the probe sequence is repeated in each DNA fragment forms the basis of the individual patterns observed on the autoradiogram image6. New techniques developed Although accurate and reproducible, this original method of analysis required the use of a large amount of high quality DNA, which is not always recovered during forensic investigations. Two big breakthroughs occurred during the late 1980s and early 1990s that would form the basis of

4 5

http://www2.le.ac.uk/departments/emfpu/genetics/explained/profiling-history ibid 6 ibid

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DNA Profiling and its Evidentiary Value DNA profiling techniques as they are recognised today. An alternative class of DNA marker, the microsatellite or short tandem repeat (STR) marker and an alternative method for DNA visualisation, PCR amplification and fluorescent labelling would greatly increase the sensitivity of DNA profiling methods and increase their use for criminal investigation7.

Supra

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DNA Profiling and its Evidentiary Value

Chapter 3 DNA profiling: Process, Considerations

DNA profiling process The process begins with a sample of an individual's DNA (typically called a "reference sample"). The most desirable method of collecting a reference sample is the use of a buccal swab, as this reduces the possibility of contamination. When this is not available (e.g. because a court order may be needed and not obtainable) other methods may need to be used to collect a sample of blood, saliva, semen, or other appropriate fluid or tissue from personal items (e.g. toothbrush, razor, etc.) or from stored samples (e.g. banked sperm or biopsy tissue). Samples obtained from blood relatives (biological relative) can provide an indication of an individual's profile, as could human remains which had been previously profiled8. A reference sample is then analyzed to create the individual's DNA profile using one of a number of techniques, discussed below. The DNA profile is then compared against another sample to determine whether there is a genetic match. Considerations when evaluating DNA evidence In the early days of the use of genetic fingerprinting as criminal evidence, juries were often swayed by spurious statistical arguments by defense lawyers along these lines: given a match that had a 1 in 5 million probability of occurring by chance, the lawyer would argue that this meant that in a country of say 60 million people there were 12 people who would also match the profile. This was then translated to a 1 in 12 chance of the suspect being the guilty one. This argument is not sound unless the suspect was drawn at random from the population of the country. In fact, a jury should consider how likely it is that an individual matching the genetic profile would also have been a suspect in the case for other reasons. Another spurious statistical argument is based on the false assumption that a 1 in 5 million probability of a match
8

http://en.wikipedia.org/wiki/DNA_profiling#cite_note-0

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DNA Profiling and its Evidentiary Value automatically translates into a 1 in 5 million probability of innocence and is known as the prosecutors fallacy9. When using RFLP, the theoretical risk of a coincidental match is 1 in 100 billion (100,000,000,000), although the practical risk is actually 1 in 1000 because monozygotic twins are 0.2% of the human population. Moreover, the rate of laboratory error is almost certainly higher than this, and often actual laboratory procedures do not reflect the theory under which the coincidence probabilities were computed. For example, the coincidence probabilities may be calculated based on the probabilities that markers in two samples have bands in preciselythe same location, but a laboratory worker may conclude that similarbut not precisely identicalband patterns result from identical genetic samples with some imperfection in the agarose gel. However, in this case, the laboratory worker increases the coincidence risk by expanding the criteria for declaring a match. Recent studies have quoted relatively high error rates which may be cause for concern. In the early days of genetic fingerprinting, the necessary population data to accurately compute a match probability was sometimes unavailable. Between 1992 and 1996, arbitrary low ceilings were controversially put on match probabilities used in RFLP analysis rather than the higher theoretically computed ones. Today, RFLP has become widely disused due to the advent of more discriminating, sensitive and easier technologies10. STRs do not suffer from such subjectivity and provide similar power of discrimination (1 in 10^13 for unrelated individuals if using a full SGM+ profile) It should be noted that figures of this magnitude are not considered to be statistically supportable by scientists in the UK, for unrelated individuals with full matching DNA profiles a match probability of 1 in a billion is considered statistically supportable (Since 1998 the DNA profiling system supported by The National DNA Database in the UK is the SGM+ DNA profiling system which includes 10 STR regions and a sex indicating test. However, with any DNA technique, the cautious juror should not convict on genetic fingerprint evidence alone if other factors raise doubt. Contamination with other evidence (secondary transfer) is a key source of incorrect DNA profiles and raising doubts as to whether a sample has been adulterated is a favorite defense technique. More

10

ibid ibid

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DNA Profiling and its Evidentiary Value rarely, chimerism is one such instance where the lack of a genetic match may unfairly exclude a suspect11. Evidence of genetic relationship It's also possible to use DNA profiling as evidence of genetic relationship, but testing that shows no relationship isn't absolutely certain. While almost all individuals have a single and distinct set of genes, rare individuals, known as "chimeras", have at least two different sets of genes. There have been several cases of DNA profiling that falsely "proved" that a mother was unrelated to her children12. Fake DNA evidence The value of DNA evidence has to be seen in light of recent cases where criminals planted fake DNA samples at crime scenes. In one case, a criminal even planted fake DNA evidence in his own body: Dr. John Schneeberger raped one of his sedated patients in 1992 and left semen on her underwear. Police drew what they believed to be Schneeberger's blood and compared its DNA against the crime scene semen DNA on three occasions, never showing a match. It turned out that he had surgically inserted a Penrose drain into his arm and filled it with foreign blood and anticoagulants13. In a study conducted by the life science company Nucleix and published in the journal Forensic Science International, scientists found that an In vitro synthesized sample of DNA matching any desired genetic profile can be constructed using standard molecular biology techniques without obtaining any actual tissue from that person14.

11 12

Supra 8 ibid 13 ibid 14 ibid

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DNA Profiling and its Evidentiary Value

Chapter 4 DNA evidence as evidence in criminal trials

DNA evidence as evidence in criminal trials

Familial searching Familial searching is the use of family members' DNA to identify a closely related suspect in jurisdictions where large DNA databases exist, but no exact match has been found. The first successful use of the practice was in a UK case where a man was convicted of manslaughter when he threw a brick stained with his own blood into a moving car. Police could not get an exact match to the UK's DNA database because the man had no criminal convictions, but police implicated him using a close relative's DNA. The technique was used to catch a Los Angeles serial killer known as the "Grim Sleeper" in 2010 15. However, critics have challenged the technology as "deeply antithetical to American values" and likely to lead to excess investigation of racial and ethnic minorities. Surreptitious DNA collecting Police forces may collect DNA samples without the suspects' knowledge, and use it as evidence. Legality of this mode of proceeding has been questioned in Australia. In the United States, it has been accepted, courts often claiming that there was no expectation of privacy, citing California v. Greenwood16, during which the Supreme Court held that the Fourth Amendment does not prohibit the warrantless search and seizure of garbage left for collection outside the curtilage of a home. Critics of this practice underline the fact that this analogy ignores that "most people have no idea that they risk surrendering their genetic identity to the police by, for instance, failing to destroy a used coffee cup. Moreover, even if they do realize it, there is no way to avoid abandoning ones DNA in public."

15 16

Grim Sleeper Arrest Fans Debate on DNA Use Jennifer Steinhauer, New York Times, July 8, 2010 1985

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DNA Profiling and its Evidentiary Value In the UK, the Human Tissue Act, 2004 prohibited private individuals from covertly collecting biological samples (hair, fingernails, etc.) for DNA analysis, but excluded medical and criminal investigations from the offense17. England and Wales Evidence from an expert who has compared DNA samples must be accompanied by evidence as to the sources of the samples and the procedures for obtaining the DNA profiles 18. The judge must ensure that the jury must understand the significance of DNA matches and mismatches in the profiles. The judge must also ensure that the jury does not confuse the 'match probability' (the probability that a person that is chosen at random has a matching DNA profile to the sample from the scene) with the 'likelihood ratio' (the probability that a person with matching DNA committed the crime). In R v. Doheny19. Phillips LJ gave this example of a summing up, which should be carefully tailored to the particular facts in each case: Members of the Jury, if you accept the scientific evidence called by the Crown, this indicates that there are probably only four or five white males in the United Kingdom from whom that semen stain could have come. The Defendant is one of them. If that is the position, the decision you have to reach, on all the evidence, is whether you are sure that it was the Defendant who left that stain or whether it is possible that it was one of that other small group of men who share the same DNA characteristics. Juries should weigh up conflicting and corroborative evidence, using their own common sense and not by using mathematical formulae, such as Bayes' theorem, so as to avoid "confusion, misunderstanding and misjudgment"20. Presentation and evaluation of evidence of partial or incomplete DNA profiles R v Bates21 Moore-Bick LJ said: We can see no reason why partial profile DNA evidence should not be admissible provided that the jury are made aware of its inherent limitations and are given a sufficient explanation to enable them to evaluate it. There may be cases where the match
17 18

Human Tissue Act 2004, UK, available in pdf. R v. Loveridge, EWCA Crim 734 19 EWCA Crim 728 20 R v. Adams, EWCA Crim 2474 21 (2006) EWCA Crim 1395

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DNA Profiling and its Evidentiary Value probability in relation to all the samples tested is so great that the judge would consider its probative value to be minimal and decide to exclude the evidence in the exercise of his discretion, but this gives rise to no new question of principle and can be left for decision on a case by case basis. However, the fact that there exists in the case of all partial profile evidence the possibility that a "missing" allele might exculpate the accused altogether does not provide sufficient grounds for rejecting such evidence. In many there is a possibility (at least in theory) that evidence exists which would assist the accused and perhaps even exculpate him altogether, but that does not provide grounds for excluding relevant evidence that is available and otherwise admissible, though it does make it important to ensure that the jury are given sufficient information to enable them to evaluate that evidence properly22

22

Wikicrimeline.co.uk.

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DNA Profiling and its Evidentiary Value

Chapter 5 Conclusion
DNA has rapidly become one of the pillars of the criminal justice system. As a society, we have reached a consensus on particular applications of that technology in the areas of post-conviction relief and convict DNA databases. As noted in the introductory chapter, it is less clear whether we have followed through on that consensus. In the post-conviction area, several states have not taken the most minimal steps to create statutory rights to review, and in many of the remaining states, the statute is an unfounded mandate, no legislation or resources ensure the preservation and categorization of evidence or the criteria for qualifying under the statute is unreasonably narrow. DNA databases have received more supportall states have authorized the creation of databasesbut too often resources have been slow to follow the mandate. And, while the reallocation of resources and change of routines that post-conviction review and DNA databases require have been difficult for the criminal justice system to achieve, the next generation of questions will be even more difficult for the system to wrestle with.

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