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Kerry Biancamano

Forensics Use of DNA:

DNA in the Courtroom: Innocent or Guilty

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DNA

DNA in the Courtroom: Guilty or Innocent??

Since the discovery of fingerprinting at the turn of the century, science has assumed an increasingly important and powerful role in the decision making process of our judicial branch. We have seen that scientific testimony in the courtroom can often be the determining factor for the outcome of civil and criminal cases. The scientific analysis of fingerprints, blood, semen, shreds of clothing, hair, weapons, tire tracks, and other physical evidence at the crime scene can be more compelling to a jury than the testimony of an eyewitness. With the dynamic effect on the jury, DNA profiling has become a very controversial issue that has to be addressed because it holds the power to change the lives of many Americans by providing the evidence to prove guilt or innocence. Without government standards and a uniform procedure, are these methods valid, reliable, and admissible in court?

DNA-identification testing in forensics has been seen in the courts for close to ten years. The increasingly widespread use of this technology by forensics in over a thousand court cases has led to the intense review of all aspects of this particular science, including the quality of the results and also the scientific basis for derivation and interpretation of these results. (Neufeld and Colman, p.52) Although DNA profiling techniques and interpretation is common knowledge to molecular biologists, many judges and juries, who are now continuously faced with it, lack the biological information to understand this test. A gap of knowledge has developed between biologists and law enforcement. Not only are judges and juries unprepared, biologists do not comprehend the legal consequences.

DNA profiling is actually a comparison of DNA fragment lengths and patterns. DNA is isolated from the samples to be compared and fragmented by a restriction enzyme. Then the length of the resulting fragments determined by electrophoresis and autoradiography are compared. These results are interpreted in two steps, first a visual measured interpretation of the pattern of DNA bands and if a match, the probability of finding a match must be configured.(McElfresh, Vining-Forde, and Balazs, pp.149-150)

Previously, forensic scientists looked at proteins to aid in some criminal cases but proteins have limitations that DNA testing does not encounter. While blood-group analysis and protein polymorphisms can be used to properly exclude someone, it cannot identify an individual as a sole source of biological material.(Moody, p.31) This type of analysis can only include an individual in a specific group having traits in common. Also, with traditional forensic methods, evidence may have to wait before being examined, proteins can become degraded or denatured so their antigenic properties are gone. (Moody, p. 31) For the use of forensics, DNA is more suitable because DNA remains intact in the environments where such evidence is found. The DNA molecule holds an impressive stability to withstand time.

Without having a standard and uniform method and procedure, there are many different techniques used throughout courtrooms. As seen in the O.J.Simpson trial, restriction fragment length polymorphism (RFLP) analysis is one procedure used and the data it produces has been called a DNA fingerprint. This analysis takes advantage of the concept that each person's DNA sequence is unique. The first step in this analysis begins with the isolation of DNA from the tissue sample. The DNA must be high-molecular-weight DNA meaning, it must be undegraded by nucleases. The DNA is next digested with a restriction endonuclease. The function of these enzymes is to recognize and cut the DNA at specific regions. This digestion process produces approximately one million DNA fragments of differing lengths. Because the isolated DNA comes from a number of cells, there are many copies of each DNA molecule. This endonuclease digestion must be completed fully so that all molecules are cut at all the possible sites. (Moody, p.32)

These restriction fragments are then separated on the basis of their size in agarose gels. The process of gel electrophoresis separates these fragments to allow them to be analyzed. To identify specific fragments, scientists use a common technique of molecular biology called the Southern blot. This separates the strands of DNA double helix. The DNA fragments are then transferred to a membrane filter while maintaining the pattern of bands present in the gel. Radioactive probes are then added which then bind to target fragments on the filter. There are two different types of probes, single-locus and multilocus probe. A single-locus probe is where the core sequence only occurs at one DNA locus and multilocus probe is when there are many different loci where the core sequence occurs.

The single-locus system is most commonly used in forensic DNA identification. The autoradiograph resulting from a single-locus probe will ordinarily show alleles of two distinct sizes, one inherited from each parent. To determine whether two samples of DNA come from a single source, you must examine the bands identified by a particular probe on the autoradiograph and determine whether they match. One must then look at the possibility of a match within the population, thus to determine whether this is unique. The probability of two individuals having the same single locus DNA print by chance can be calculated by considering the frequency of the different allelic forms of that locus in the population. For example, if someone has an allele that is present in only 1 out of 100 individuals, the frequency of that allele would be .01 meaning a random match would occur 1 out of 100. (Moody, p.43) If alleles at three or four different sites are evaluated, it becomes more unlikely that two individuals will have the same alleles for all the sites. It is this notion that gives DNA identification its persuasive power.

Another frequently used but less precise technique that becomes an option for usage by forensic scientists is known as the polymerase chain reaction (PCR). This is merely a general test used to exclude a suspect from an investigation. (New York Times, May 9, 1995) This was introduced in a court case in 1986, Pennsylvania v. Pestinikas. Tissue samples from a corpse were examined and the DNA in these samples was degraded, and there was not a sufficient amount of high-molecular-weight DNA which is needed by the RFLP analysis. The forensic scientists on the case adopted the gene-amplification technique PCR. This technique can make a million copies of specific DNA sequences. It does this by using heat-stable DNA polymerase from the bacterium Thermus aquaticus to direct repeated cycles of DNA synthesis from primers that flank both ends of the gene. (Moody, p.35)

For the use of forensics, the PCR technique is used to enlarge a multiallele locus, HLA-DQ alpha. The enlarged DNA is then examined with allele specific probes in a dot-blot hybridization, which is similar to the Southern blot. In dot-blot hybridization, the DNA is not digested with restriction enzymes nor separated by size in a gel. Instead, it is applied directly to a filter membrane and then hybridized with a single-strand DNA probe. The dot-blot hybridization only detects the presence or absence of hybridization of the probe to the amplified DNA. Therefore, if the test was done incorrectly, it would produce a false result and you would not know that the error occurred. This is different than the RFLP analysis because errors are readily visible. Also, the gene frequencies are not low enough to identify an individual as the sole possible source of a sample. However, the PCR technique can be used to exclude individuals with certainty some samples that cannot be analyzed by the RFLP analysis.

Not only are there many different techniques used which causes problems in itself, difficulties arise that further complicate DNA identification. One problem is the phenomenon of band shifting. This occurs when DNA fragments migrate at different speeds through separate lanes on a single gel. This problem has been attributed to a number of factors including the preparation of gels, the concentration of sample DNA, the amount of salt in the DNA solution, and contamination. Band shifting can occur even if the various lanes contain DNA from the same person. Because allele sizes in forensic RFLP systems are closely spaced, it is difficult to know if the relative positions of bands arise from the size of the allele fragments or from band shifting. (Neufeld and Colman, p.51)

In the courtroom, it may not be clear to a lay audience that two bands that are not exactly aligned are indeed a match. To a trained scientist, this phenomenon of band shifting requires additional observation in the interpretation of results but with adequate controls and a thorough analysis of the test system an accurate interpretation of the results is possible. Band shift was initially raised as a method of showing that the results of a DNA case might be unreliable. The overall question of band shifting in the use of DNA by forensics is if two DNA patterns are not perfectly aligned, how can one be confident that the patterns are indeed a match when the alternative is that the suspect is released due to a nonmatch? Also, consideration is needed to see if a band shift could produce a false positive. The answer to that it is just as probable for a band shift to shift away from a match than it is to shift to a match, there is no way to predict what will happen. (McElfresh, Vining-Forde, and Balazs, p.153)

Band shifting is one obstacle that must be handled then by the court system and is an excellent example of the problems that occur when the courts decide the reliability of a method. Forensic DNA laboratories were working to develop special probes that solve this problem.(Neufeld and Colman, p.51) In a rape case tried in December of 1989 in Maine, State v. Mcleod, the laboratory director who supervised the DNA tests for the prosecution testified that a correction factor derived from a monomorphic probe allowed him to declare a match even though the bands had shifted. When evidence then came to light that a second monomorphic probe indicated a smaller correction factor, which did not account for the disparity between the bands, he acknowledged that the monomorphic probes may yield inconsistent correction factors. He argued that the first correction was appropriate, but the prosecutor saw the foolishness of defending this argument without supporting data and withdrew the DNA evidence.(Neufeld and Colman, p.51) Without regulation, discrepancies appear forcing the evidence not to be used.

Another major problem that arises in forensic DNA typing is contamination. More often than not, crime-scene specimens are contaminated or degraded. The presence of bacteria, organic material, or degradation raises the risk of both false positives and false negatives. An example of this would be when contamination degrades DNA so that the larger fragments are destroyed. Here, a probe that should yield two bands may yield only one.(Neufeld and Colman, p.51)

What has to happen in order for DNA identification to become legally accepted and a major component in the justice system? To be admitted as evidence in a court case, a forensic test should satisfy three criteria: the underlying scientific theory must be considered valid by the scientific community; the technique itself must be known to be reliable; and the technique must be shown to have been properly applied in the particular case. For a new type of evidence to be admissible, the judge must be convinced of the technology's reliability and scientific acceptance in a pretrial hearing called the Frye hearing. The guidelines stem from the case Frye v. U.S. where the Court of Appeals for the District of Columbia affirmed a lower court's decision to exclude evidence derived from a precursor of the polygraph. The court declared,

" Just when a scientific principle or discovery crosses the line between the experimental and the demonstrable stages it is difficult to define. Somewhere in this twilight zone the evidential force of the principle must be recognized and while courts will go a long way in admitting expert testimony deduced from a well- recognized scientific principle or discovery, the thing from which the deduction is made must be sufficiently established to have gained general acceptance in the particular field in which it belongs." (Lewis, p.6-7)

This leaves many legal and scientific professionals feeling discontent with the Frye requirements. Scientists on the stand must make complex molecular technology tangible and accessible. The courts want to see what it is that makes the experts so sure of their powerful conclusions. The courts are not willing to simply believe expert witnesses just because they hold a specific position or title. They want to be shown and given the opportunity to understand.

Some flaws of the Frye requirement is that it seeks demonstration rather than evaluation of the evidence or rationale behind such acceptance. In the past, the courts have looked to the qualifications of experts to validate the rather vague general acceptance requirement. The Frye procedure assumes that the judge and jury has the scientific background to evaluate the basis of general acceptance. The importance of the expert witness in evaluating the acceptability of new technology has been growing. It has been recommended that direct evaluation of scientific evidence replace the Frye procedure. The courts are demanding that they be shown why testimony of experts is valid rather than blindly accepting it.

The power of forensic DNA typing is its ability not only to demonstrate that two samples have the same pattern but also that that pattern is extremely rare. What is missing in forensics is a set of adequate guidelines. In order to use DNA evidence in court, there must be reliability and to get this, there needs to be a national standard of the DNA identification process for forensics. Today, there is a lot of data that backs the validity of the DNA identification process, but at the same time much variation exists which brings doubt. Just like any other scientific fields, regulation and uniformity are the keys to building acceptance and validity.

The FBI and other agencies have done thousands of tests of DNA samples from many ethnic groups. It has confirmed that the difference in DNA marker frequency are greater between broad ethnic groups rather than in them. Now, the courts have been asked to use the specific ethnic database to calculate the possibility of a match when the race is known. If the race is not known, the odds should be calculated using several different population groups. This means that certain DNA markers are more frequent in specific ethnic groups. Therefore, the odds should be calculated specifying the ethnicity of the suspect. This will allow prosecutors to determine the overall likelihood of a chance match. This is the beginning of regulating this scientific field. (Marshall, p.803-804)

There still remains concerns about the technology's potential impact on civil rights of the accused suspect. For example, what degree of probable cause must law enforcement officials demonstrate before a judge can order a DNA blood test on an uncooperative suspect? Also, can police officials use previously collected samples for other purposes if they suspect an individual committed a crime. These questions begin another debate about whether DNA should be stored in a database for potential future use. Many worry about the possible abuse that may develop and the possibility of false accusation without probable cause.

As with any new technologies, the greatest risk of reaching an incorrect conclusion stems from undetected human error in the lab.(Marshall, p.803) Preliminary quality-control surveys have revealed some serious errors in DNA labs, which probably would have resulted in unjustified acquittals and convictions.(Weiss, p.75) A researcher of the Whitehead Institute stated that he knows they mess up and if you load the same specimen in both lanes, you get an identity.(Weiss, p.75) Another problem that becomes evident is that if a first test goes wrong, there usually is not enough DNA to run the test again. This can be seen as frustrating to many experts. The stakes get very high when molecular biology comes out of the laboratory and into the courtroom.

DNA identification technology is becoming a bigger and more important role in the justice system today. Both the legal and scientific professionals are going to have to work together to find common ground for which this evidence can be viewed as valid, reliable, and completely certain. It begins with educating the people and the court system of this new technology. Standards need to be set and laboratories are going to have to be structured similarly. The problems are going to occur when different techniques are being displayed and when there is not a consensus on a procedures. Within this field there must be standard acceptance and uniformity. Without these, we will see doubt and disbelief by judges and juries and many criminal cases may not admit this evidence which could possibly solve the case. We have the potential to prove the identity of the donor of biological material at a crime scene. With a homicide occurring every 28 minutes and a rape every 6 minutes, this is quite an important potential. (Lewis, p.9) We need guidelines and standards to make this process reliable and valid for our courtrooms to use.



Also, for more information about all areas of forensics including DNA profiling, consult

Zeno's Forensic Home Page.

BIBLIOGRAPHY

Aldhous, Peter. 1993. "Geneticists Attack NRC Report As Scientifically Flawed." Science. Vol.259, pp.755-756.

Lewin, Roger. 1989. "DNA Typing on the Witness Stand." Science. Vol. 244, pp. 1033-1035.

Lewis, Ricki. 1989. "Genetics meets Forensics." BioScience. Vol.39, No.1, pp.6-9.

Lewontin, R.C. and Daniel L. Hartl. 1991. "Population Genetics in Forensic DNA Typing." Science. Vol.254, pp.1745-1750.

Marshal, Eliot. 1996. "Academy's About-Face on Forensic DNA." Science. Vol.272, pp.803-804.

Marx, Jean L. 1988. "DNA Fingerprinting Takes the Witness Stand." Science. Vol. 240, pp. 1616-1618.

McElfresh, Kevin C., Debbie Vining-Forde, and Ivan Balazs. 1993. "DNA-Based Identity Testing in Forensic Science." BioScience. Vol.43, No. 3, pp.149-157.

Moody, Mark D. 1989. "DNA Analysis in Forensic Science." BioScience. Vol.39, No.1, pp.31-35.

Neufeld, Peter J. and Neville Colman. 1990. "When Science Takes the Witness Stand." Scientific American. Vol. 262, No.5, pp.46-53.

"Simpson Judge and Jury To Learn All About DNA," The New York Times, May 9, 1995. p.A22.

Weiss, Rick. 1989. "DNA Takes the Stand." Science News. Vol.136, pp.74-76.

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