What The Heck Is DTC Genetic Testing?

In recent years, diagnostic genetic tests for well over 1,000 diseases have become clinically available. Results from such tests can lead to profound, life-changing decisions, such as whether to undergo a prophylactic mastectomy, terminate a pregnancy or take a particular drug or dosage of a drug.

Predictably, as novel medical advancements emerge, there will always be a segment of our society rushing in to capitalize upon the profits that might be there for the taking. For review of a related phenomenon, refer to The DNA Ancestry Con Game - Consumer beware!

Over the past several years, Direct-to-consumer (DTC) genetic testing has been gaining tremendous momentum. In the article that I am presenting here today, I am asking my readers to sift through the mountain of information associated with this topic-including the many links provided below-and offer responses based on your knowledge of and/or experiences with these consumer-directed tests. Read on, …

In July 2007, the U.S. Government Accountability Office (GAO) released a scathing condemnation of the DTC genetic testing industry in an article entitled TESTS PURCHASED FROM FOUR WEB SITES MISLEADS CONSUMERS. The authors of this article revealed how elementary it can be to demonstrate the glaring lack of scientific reproducibility of the DTC genetic data.

Two months after the GAO article, a commentary was released by the American Society of Human Genetics (ASHG) entitled ASHG STATEMENT ON DIRECT-TO-CONSUMER GENETIC TESTING IN THE UNITED STATES. In this article, the authors report that the proponents of DTC testing were hard-selling the favorability of the changing environment, as it enhances consumer access to useful diagnostic tests and offers improved consumer autonomy and empowerment. Meanwhile, an elevated degree of privacy can be maintained over personal medical information. In contrast, the article established the following:

“Critics of DTC genetic testing have pointed to the risks that consumers will choose testing without adequate context or counseling, will receive tests from laboratories of dubious quality, and will be misled by unproven claims of benefit.”

The ASHG statement was released, in part, as a consequence of the intensifying firestorm of conflict between various state and federal government agencies (with the classic example being the GAO) and the rapidly growing legion of genetic testing companies-venturing into the DTC business market.

The FEDERAL TRADE COMMISSION (FTC) is our primary government agency-burdened with the responsibility of investigating questionable business practices-with the ultimate purpose of protecting American consumers. A July 2006 consumer alert—issued by the FTC—was entitled, AT-HOME GENETIC TESTS: A HEALTHY DOSE OF SKEPTICISM MAY BE THE BEST PRESCRIPTION.

In this article, the FTC asks consumers: 

“Could a simple medical test tell you if you are likely to get a particular disease? Could it evaluate your health risks and even suggest a specific treatment? Could you take this test in the privacy of your home, without a doctor’s prescription or guidance? Some companies say genetic testing can do all this and more. They claim that at-home genetic testing can screen for diseases and provide a basis for choosing a particular diet, dietary supplement, lifestyle change, or medication.”  

 

The article seems quite skeptical of these claims, as it points out:

“According to the Food and Drug Administration (FDA), which regulates the manufacturers of genetic tests; and the Centers for Disease Control and Prevention (CDC), which promotes health and quality of life, some of these tests lack scientific validity, and others provide medical results that are meaningful only in the context of a full medical evaluation. The FDA and CDC say that because of the complexities involved in both the testing and the interpretation of the results, genetic tests should be performed in a specialized laboratory, and the results should be interpreted by a doctor or trained counselor who understands the value of genetic testing for a particular situation.”

A recent, quite informative article was released by the INDIANA UNIVERSITY CENTER FOR BIOETHICS. This article includes useful background information relevant to the many ethical issues associated with DTC genetic testing. The article also focuses on various mechanisms by which state and federal government agencies are proceeding—or might proceed in the future—with regulatory measures.

Additional articles addressing the DTC genetic testing controversy include the following:

ASSUMING YOU WANT TO KNOW, GENETIC TESTS ARE NO CRYSTAL BALL. This April 2011 article provides an interesting, recent viewpoint on what is currently going on-relevant to the DTC genetic testing controversy and the ongoing skirmishes involving the GAO, the FTC, the FDA, and the CDC.

DIRECT-TO-CONSUMER GENETIC TESTING: RELIABLE OR RISKY? Clinical Chemistry, a leading international journal of clinical laboratory science, solicited opinions on DTC genetic testing from various renowned experts. 

GENETIC TEST KITS: PREDICTIONS OF THE FUTURE OR PSEUDO-SCIENCE SCAM?. In this article, the authors point out that “....the General Accounting Office (GAO) thoroughly debunked the marketing of direct-to-consumer genetic test kits, charging that the biotech companies who peddle this high-tech snake-oil scam are guilty of providing misleading test results backed by deceptive marketing and other questionable practices.”

 

DIRECT TO CONSUMER GENETIC TESTING AND OPRAH.

Yes, even Oprah is joining in on the fun.

The next article is entitiled:

Wrongful Convictions: Society Loses Out, THREE TIMES OVER

Michael J. Spence, Ph.D.

January 27, 2012

Society's Latest Legal Disaster

Please allow me to note that I began crafting this article before the end of August 2011. On October 20, 2011, I submitted a first draft of the article to a few of my associates. I did so to ensure the accuracy of various events as well as a means to encourage feedback. This article is in no way related to—a response to—or a commentary on—the tragic events that have become known as the PENN STATE/JERRY SANDUSKY SCANDAL.

With that established, perhaps we should begin by verifying two fundamental truths. First, let us all agree that there are documented cases of flawed criminal investigations and misguided prosecutions—often leading to WRONGFUL CONVICTIONS. Second, let us also agree that any circumstance involving harm to the children within our society is certain to cause a powerful response of revulsion and outrage. This article addresses the inevitable consequences when these two fundamental truths collide.

Please imagine a call coming into a 9-1-1 emergency dispatch unit. Shortly after the call, law enforcement resources are mobilized and they arrive at a home. Officers are confronted by a hysterical female and a withdrawn child. A finger is pointed at a male suspect. Perhaps this suspect is standing in front of the officers. Perhaps he is sound asleep in a nearby bedroom, unaware of the mayhem that looms before him. Perhaps the accused is not even present at the scene. After statements are collected from various individuals, the above-described scenario leads to the immediate incarceration of the accused. This scenario also leads to a medical examination—further traumatizing the child.

Despite the omission of specific allegations preceding this theoretical 9-1-1 dispatch call—let us now have a show of hands: How many readers of this blog embrace the concept that the accused man will venture into his criminal trial as “Innocent until proven guilty”? Will he still be presumed innocent after the first minute or two of the prosecutor’s opening statements? Those of you with your hands eagerly elevated can put them down now. While you are at it, you can also stop kidding yourselves.

Please do not misinterpret my point here. If my career path has enlightened me at all, I have become painfully aware that instances of sex crimes targeting children are significantly more common than most people realize. Between 2003 and 2007, I examined over 100 criminal cases as a Forensic Biologist with the Indiana State Police Regional Laboratory in Evansville, Indiana.

Current estimates reveal that about 20% of the adult women in the U.S. claim that they were sexually abused during their childhood. About one half of that percentage applies to U.S. men—also claiming that they were sexually abused as children. Additional sources claim that—in reality—these estimated percentages could be much too conservative. Due to the enormous level of fear typically experienced by the victims of these crimes, many cases are never reported.

The general consensus seems to be that—with rare exceptions—accused sex offenders are ‘guilty as sin’. Keeping that in mind, most Americans still want to believe that the accused are provided with considerably fair opportunities to defend themselves against any accusations. In this article, I intend to illustrate the reasons why I believe that this admirable concept of fairness simply does not apply when a person is accused of inflicting harm upon the most precious members of our society—our kids.

The following summarizes some of my actual experiences—as a DNA expert for the defense—with three fairly recent examples of actual criminal cases:

Mr. A is a young Native American. He lived in a home with his sister, her husband, and their three young children. He often watched and cared for the two young girls and their younger brother. He lounged in a room with them, watching TV, playing video games, munching on snacks, and often falling asleep side by side with one or more of the children. For a substantial period of time, Mr. A cheerfully provided these child care services, and was NEVER accused of doing anything inappropriate.

One day, Mr. A arose from bed early, went through his morning routine, and departed for work. Not long after that, his life was turned upside down. One of the young girls experienced a painful urination. Understandably, the child called out to her mother. What happened after that has yet to be fully clarified. Mr. A’s sister became hysterical and surrendered to an irrational fear that her child’s painful urination could not possibly be a by-product of poor hygiene, a garden variety rash, a passing infection, or a poorly managed diet. Consumed with panic, the sister instead convinced herself that “something horrible must have happened”. Next was the ill-fated 9-1-1 call. After the police arrived and statements were collected from a few individuals, Mr. A was promptly located at his workplace and arrested. A medical examination was conducted upon the traumatized young girl. 

Eventually, the FBI Crime Lab became involved. The reporting lab analyst found a DNA mixture profile, present on the shorts collected from Mr. A. The major DNA contributor, not surprisingly, was Mr. A. The minor DNA profile on the shorts may have been from the child in question-or perhaps from her sister. At this point, it is useful to establish that Mr. A and the members of his sister’s household were never approached for a possible cover photo on Good Housekeeping magazine. Young Mr. A, a kind, hard-working man, had a tendency to frequently wear his ‘favorite shorts’ while relaxing at home. Like countless other young men, ...Mr. A was untidy. He rarely bothered to place his shorts anywhere near a washing machine. He would change into and out of the garment at various times, discarding them into various, haphazardly-selected locations throughout the home. Occasionally, Mr. A's sister or his brother-in-law would unearth these preferred shorts from within a pile of various items, and include them with the next load of laundry. Otherwise, they might NEVER get washed!

The FBI lab analyst also reported a Prostate Specific Antigen (PSA) positive test on a sample collected from the child’s underpants. PSA is used in forensic labs as a presumptive test for semen. In an attempt to confirm that this was genuinely an indication of semen, the lab analyst collected additional material and scanned it microscopically for spermatozoa. Not a single sperm cell was found. The FBI analyst proceeded to the ‘holy grail’ of forensic science-DNA. No DNA—other than the expected DNA from the young girl—was detectable on her underpants. The defense attorney representing Mr. A contacted my forensic DNA consulting company—mostly to confirm the negative findings reported by the FBI Crime Lab. 

The medical examination conducted on the child indicated no unusual symptoms. Nothing was found beyond the typical minor rashes and irritations that could have readily contributed to the painful urination in the first place. Such ailments are common among children of a similar age to the young girl in Mr. A’s household. Believe it or not, Mr. A sat in jail for nearly two years before being found NOT GUILTY on all counts. The jury deliberated for less than two hours to arrive at this unanimous conclusion. Mr. A was immediately released. 

Let us now discuss the case of Mr. B. He is also a Native American. Mr. B was raising his young son and young daughter as a single parent.  When his sister lost her home, Mr. B graciously took her in as a house guest. Each evening, Mr. B and his son would unfold a temporary bed in the kitchen of his home, and retire there for the night. One evening, Mr. B arrived at his home in an intoxicated state. It is important to note that when Mr. B’s sister was a teenager, she had been sexually assaulted by an intoxicated man. Seeing Mr. B drunk caused his sister to become severely upset. Later that night, she somehow became convinced that Mr. B was ‘doing something’ underneath the bed covers with his young son. What transpired next was yet another ill-fated 9-1-1 call. Mr. B’s life was turned upside down. After the local police arrived and statements were collected from various individuals, he was promptly placed under arrest. The customary medical examination was conducted upon the young boy. 

Similar to Mr. A’s case, the FBI Crime Lab became involved. In this case, the FBI analyst looked at no evidence items other than 4 cotton swabs that had been collected from the anal area from the young boy. The FBI lab report stated "….semen identified" on the anal swabs. What more would any jury need to hear? Game, Set, Match, ....Right? Mr. B was devastated. Upon meeting with his attorney, he emphatically insisted that he would NEVER harm his children and that the FBI report HAD to be incorrect. The attorney contacted my consulting company and asked me to scrutinize the FBI’s lab reports and supporting documents.

Upon examination of the FBI documents, I immediately noticed that the reporting analyst referred to an "FT Positive" test result on two of the four swabs. Indeed, this screening test was—once again—PSA. I eventually discovered the fact that this mysterious “FT” designation was shorthand for "FAINT". Please allow me to pause and emphasize the gravity of this revelation: The FBI Crime Lab—our FEDERAL AUTHORITY on forensic science—utilized a $1.05 PSA detection cartridge (a gadget resembling a common drug store pregnancy test strip), .....and note that the FBI’s test strip revealed a FAINTLY positive result. Defying logic, no effort was made by the FBI analyst to microscopically identify sperm cells on ANY of the anal swabs. Instead, they proceeded to test ONE of the swabs for DNA. This effort revealed NO DNA DATA that might have suggested the possible presence of Mr. B’s DNA.

I informed Mr. B’s defense attorney that the FBI Lab’s conclusions were entirely unjustified, and an enormous misrepresentation of the scientific facts. I backed up this opinion by emphatically recommending retesting on—not one—but all four swabs. The swabs were sent to Independent Forensics, Inc. (IFI), a superbly-qualified biological/DNA testing lab located in Lombard, Illinois. IFI was equipped with a more accurate, SPECIFIC screening test for semen (not PSA). IFI also possessed a sensitive, more thorough DNA testing strategy. The laboratory at IFI revealed virtually NO indication of semen and SUPPORTED the FBI Lab’s finding of NO DNA linking Mr. B to so much as a hint of a criminal act.

The screening test utilized by the FBI lab was a sensitive detection system for PSA—a protein that DOES occur abundantly in semen. However, the error associated with leaning heavily on the PSA test is that recent research has revealed the presence of PSA in body tissues and fluids other than semen.

To be clear, nothing is fundamentally wrong with using the 105-cent PSA test cartridges—especially when this method is employed strictly as a screening tool. PSA and similar diagnostic tools were meant to point the way to the ultimate goal of countless criminal case investigations—DNA.  A faint PSA positive test is anything but the de facto means of verifying an alleged incident of sexual assault. Managers overseeing accredited crime labs are compelled to promote the interpretation of such ‘preliminary data’ with extreme caution. Despite this glaring chasm in their scientific case, FBI Crime Lab management refused to back off from their profoundly speculative, "semen identified" conclusion.

Up until the week of the trial, Mr. B had been sitting in jail for over sixteen months. What’s worse, the man was facing 30 years in prison—if convicted. As the eleventh hour approached, Mr. B was offered a chance to be released, a reduction to merely ‘time served’. However, the man would have been required to accept a guilty plea. Mr. B refused to accept any agreement that would prevent him from continuing to raise his two children. For this reason, he rejected the offer.

I have occasionally received praise for my diligence as a parent. As much as I try not to contradict my admirers, I must confess that I have NEVER agreed to risk 30 years in Federal prison—in order to continue my role as a parent. In Federal Court, the FBI Crime Lab's enormous interpretive flaws were carved up—much like a Christmas turkey—in front of the jury. This process was facilitated by Richard Coughlin, Ph.D. (President/Chief Scientific Officer of Sequela, Falmouth, Maine), Karl Reich, Ph.D. (Chief Scientific Officer, IFI), and myself. After the jury deliberated for only 2 ½ hours, Mr. B was found not guilty on all counts and immediately released.

I will never forget the phone call from Mr. B’s attorney—shortly after the verdict was delivered. He handed the phone to Mr. B, who graciously thanked me for all that I had done to assist with his cause. I assured Mr. B of what an honor it was for me to have the opportunity to facilitate a justified outcome for such a courageous father. THE MAN HAD COMMITTED NO CRIME.

Side notes: Both Mr. A and Mr. B were accused by their own sisters. In each case, the accuser admitted that she had been sexually assaulted-years ago, as a child-by an adult. Mr. B's accuser recanted her original accusation. Mr. A's accuser did not.

And finally, ….Mr. C lived in a humble, single-wide mobile home with his wife, their one-year old son, and his wife’s three daughters from a previous marriage. The woman of the household frequently voiced her mandate that Mr. C was NOT to enter her home in an intoxicated state. One evening, Mr. C violated that rule. His arrival at home led to a few unpleasant exchanges between husband and wife. Eventually, Mr. C decided to retire to the master bedroom. He soon fell asleep next to his one-year old son. Quite some time after that, Mr. C realized that somebody was kicking his bed and demanding that he get up. To his surprise, it turned out to be a local police officer. You guessed correctly—the ill-fated 9-1-1 call had already been placed. Mr. C’s life was about to be turned upside down. He was promptly arrested, handcuffed, and shoved into the back of a squad car. Mr. C was mystified to see that one of his stepdaughters was being escorted to a facility for a medical examination.

The examining nurse at this facility collected numerous samples from the child. These included the following: a vaginal swab, a vaginal slide, an oral swab, an oral slide, an anal swab, an anal slide, and a swab from a pair of underpants belonging to the girl. All three of the cotton swabs collected from the child provided NO hint of any semen. Furthermore, DNA testing of these swabs showed the presence of ONLY the young girl’s DNA—with no indication of a single DNA marker from Mr. C or anybody else. All three of the slides prepared from the child also provided NO indication of semen. No further analysis was conducted on the slides.

The cotton swab from the underpants also provided NO indication of semen. DNA testing from this same item indicated the presence of a DNA mixture. The major component of this mixture—as one might expect—originated from the young girl. After all, she WAS the owner of the underpants. The crime lab analyst reported that Mr. C, “….could not be excluded as a minor contributor to the DNA mixture reported from the cotton swab collected from the underpants.” This conclusion was based upon the detection of 1 or 2 NANOGRAMS of male DNA on the cotton swab. The lab analyst estimated a 32.7 to 1 ratio of female DNA to male DNA on the swab from the underpants. 

The defense attorney representing Mr. C contacted my consulting company and requested my examination of the DNA case reports and supporting documents. It became immediately clear that the scientific information being relied upon by the prosecution was enormously flawed and misleading. Defying any logical explanation, DNA profiles—for comparison to the DNA results from the underpants—were determined for ONLY two individuals residing in the tiny household. Yes, ....you read that correctly—reference samples were typed for DNA ONLY from the young girl and Mr. C. No genetic information at all whatsoever was gathered from the mother of the four children, the young girl’s two siblings—or MOST IMPORTANT—her one-year old half brother.

It is vital to be clear on this issue: ….The young girl’s half-brother was indeed a MALE, ....OBVIOUSLY a close genetic relative of Mr. C—HIS SON. Neglecting to collect DNA reference standards from this boy, as well as everyone else residing within the household, was a catastrophic oversight on the part of the investigators assigned to this case. Collecting known DNA reference samples from ANY individuals who may have contributed DNA at a crime scene is a FUNDAMENTAL CONCEPT IN FORENSIC SCIENCE.

Recall that an infinitesimally small quantity of MALE DNA was detected on the swab collected from the young girl’s underpants. What we are talking about here is 1 or 2 BILLIONTHS of a gram of material. Any qualified forensic biologist is aware that fewer than 300 skin cells is all that is needed to extract such a tiny quantity of DNA.

Note that a clump of 300 cells—which is scarcely visible—could easily occupy the very tip of a toothpick. Also keep in mind that the average person sheds approximately 36,000 skin cells—PER MINUTE. With this in mind, picture the young girl, in the confined environment of a small, cluttered mobile home, often clad in little more than a pair of underpants and a tee shirt. Imagine her wrestling around and playing with her adorable one-year old male half sibling.

Now imagine this youngest member of the household—a toddler—and his many daily encounters with saliva-caked toys, snacks, sippy-cups, and every other intriguing item he can get his hands on. Also try to picture the toddler’s endless lingering encounters with respiratory infections. Consider this one-year old boy, with his nasal cavities continually draining, and his distinct genetic relatedness to his biological father—Mr. C. Beyond all comprehension, no individual associated with this investigation could conjure up a rationale for collecting a reference DNA sample from this pint-sized DNA factory.

Similar to the previous two cases, Mr. C and Mrs. C were never in negotiations for a Better Homes and Gardens cover photo. Through countless potential DNA transfer events, it is certain that the all six occupants of the tiny home had contributed to an array of DNA mixtures, ready for forensic detection off of the bathroom towels, washcloths, toothbrushes, combs, door knobs, handles on cabinets, closets, faucets, refrigerators, freezers, bedding, pillows, furniture, carpet, clothing, televisions, remote controls, telephones, pens, pencils, toys, car keys, ….the list is endless.

Most contradictory to the prosecution’s case, the lab analyst could not escape the astounding fact that a portion of the male DNA profile detected on the young girl’s underpants COULD NOT HAVE ORIGINATED FROM EITHER MR. C OR HIS ONE-YEAR OLD MALE CHILD.

Yes, you read that correctly, and NO, I am not joking. During the trial, neither the lab analyst, nor the prosecution team, attempted to formulate an explanation of WHO this unknown male individual might be. Neither the state, nor the defense, attempted to suggest that the young girl was abused by this mysterious, unidentified male. On the contrary, the detection of DNA from an unknown male upon such a disturbing location—ON THE UNDERPANTS OF THE ALLEGED VICTIM—merely emphasized an inescapable fact. An unknown male, perhaps five years old, ....or perhaps eighty-five years old, had—at some point in time—ventured into the single-wide mobile home.

Once inside the home, a source of DNA from this male somehow became incorporated into the ‘primordial soup-like’ myriad of DNA mixtures that were already abundantly present throughout the tiny dwelling. How this DNA came to be on the child's underpants was anybody's guess. The prosecution shrugged this off as "irrelevant" and enthusiastically forged ahead with the poorly-conceived case.

Beyond the biological evidence and resulting DNA data associated with this case, the investigation and trial included an assortment of contradictory statements and baffling courtroom testimony from the mother of the four children. Clearly, the woman was frustrated with her inability to persuade her husband to curb his drinking and conform to her perception of an ideal husband. It was also clear that the young girl’s accounts of the night in question were profoundly murky and inconsistent. Only a vague whisper of clarity became apparent when the girl’s mother was close by—and actively managing the interrogation process.

After four hours of deliberation, the jury somehow found Mr. C guilty and sentenced the man to 18 years of incarceration. His first opportunity for parole will arrive after serving 9 years of this ridiculously inappropriate sentence. This verdict was a genuine judicial abomination. Speaking strictly with reference to the biological evidence and the LACK of DNA results, the case targeting Mr. C was arguably weaker than the cases against Mr. A and Mr. B. Please do not misinterpret this revelation. Mr. A and Mr. B were rightfully exonerated by a jury of their peers. In both cases, it was abundantly clear that NO CRIME HAD BEEN COMMITTED. The scientific results associated with the prosecution of all three defendants included a virtual orgy of investigative errors and scientific misinterpretations.

My questions to the readers of this article are as follows: 

How should our judicial system proceed from here to correct Society's Lastest Legal Disaster? Should we ‘lighten up’ on the prosecution of individuals who have been accused of sexually abusing children? 

While we are all aware that this probably will not and should not happen, it is important that our society AT LEAST begins taking steps to persuade a more ethical, professional approach to the investigation, scientific assessment, and prosecution of these emotionally-driven criminal cases. If the Penn State/Jerry Sandusky Scandal has taught us anything, we now know that it is NEVER acceptable to hesitate with respect to reporting such crimes. More specifically, it is vital for all individuals who find themselves involved in these tragic circumstances to function as accurate, and outspoken witnesses of the truth. Some recent articles illuminating how the TRUTH has gotten away from us are as follows:

JEOPARDY IN THE COURTROOM: A SCIENTIFIC ANALYSIS OF CHILDREN'S TESTIMONY (BOOK REVIEW)

LEARNING FROM THE MCMARTIN HOAX

DAY-CARE-SEX-ABUSE-HYSTERIA

The next blog article is entitiled: What the Heck is DTC Genetic Testing?

Michael J. Spence, Ph.D.


January 22, 2012

The Casey Anthony Media Circus

This tragic Orange County Florida case centered upon a baffling crime, the unreported disappearance and death of an adorable, defenseless two-year-old child. What differentiated the State of Florida v. Casey Marie Anthony from the vast majority of all other cases was the exagerrated, almost surreal degree to which it was exploited by the media. Every tidbit of this 'Media Circus' coverage was promptly devoured by the public.

The criminal trial—shadowed by an angry mob positioned outside the Orange County Courthouse—was held during the summer of 2011. Today, January 17, 2012, marks six months—to the day—from Casey Anthony's release from the Orange County Jail.

I could begin this article by plunging into the compelling issues: Guilt v. Innocence, or Justice v. Injustice. I will not do that. This article offers no sympathy for Casey Anthony, ....nor does it offer proposals to secure justice for Caylee. Most important, this article is NOT another pathetic, worthless assault on the jury, in response to their unpopular decision. The verdict has already been sufficiently vilified by the placard-carrying mob of zealots who—more than anything else—couldn't wait to arrive at home, pop some popcorn, and watch themselves on TV. The recurring theme, throughout this case investigation, throughout the trial, throughout the orgy of media coverage, was as follows: As questions were addressed, the degree of confusion was progressively amplified, and observers were seldom rewarded with anything resembling answers.

I think we can all agree that these few fundamental issues WERE settled:

• The mother of precious little Caylee was an incorrigible liar. The woman, in fact, was a liar and a deadbeat long before the child ever disappeared.
• We all agree that mothers are ultimately responsible for the health and safety of their kids. It defied moral comprehension when this particular mom decided to go out partying—enjoying her friendships—with the full knowledge that her child was GONE.
• A 'theory' that the little girl had drowned was presented as part of the defense's opening argument.
• Although the burden of proof always rests with the prosecution (not the defense), there was more evidence raising doubts that a drowning ever occurred (testimony from George Anthony), versus what added up to essentially no effort to establish drowning as a factor at all.

With these fundamental facts established, the following fascinating revelations emerged during the course of the investigation and the 43-day trial:

• On August 11th, 12th, and 13th, 2008, tips came into local law enforcement-alerting them to the possible location of the child's body. FOUR MONTHS LATER, a thorough search of the same EXACT location led to the recovery of the profoundly decomposed remains.
• The protracted, unnecessary delay in the recovery of these VITAL materials is part of the reason why so little physical evidence could be presented by the prosecution during the trial. This included no conclusive DNA, no fingerprints, and no useful trace materials.
  
• Despite a remarkable degree of speculation, the cause of death was never established by any medical examination.
• Asphyxiation—involving the use of duct tape—was suggested by the prosecution. This was coupled with speculation regarding the use of chloroform as a murder weapon.
• There was no mechanism of establishing that the recovered duct tape was used to commit a premeditated homicide.
• The prosecution attempted to argue that the organic solvent, chloroform, was present in the trunk of the defendant's vehicle. This claim was contradicted by the prosecution's own witness—Dr. Michael Rickenbach—an FBI chemist. The profoundly low levels of chloroform could have been due to the presence of the emulsified organic compound typically found in a variety of common cleaning products.
• Curiously, the prosecution presented expert testimony that 84 computer searches for "chloroform" had been conducted on a computer to which the defendant had access. During closing arguments, the defense emphatically disputed the validity of these findings. The defense pointed out that the alleged 84 hits contradicted a separate report of only ONE hit. They also exposed a glaring flaw—that the report of 84 chloroform searches was not released until June 2nd, ....DURING THE TRIAL! The child disappeared during the summer of 2008. One has to wonder: What were the investigators/prosecutors doing with this computer during the THREE YEARS leading up to the trial? The members of the jury had to be anxiously anticipating the prosecution's counter attack during the rebuttal phase of the closing arguments. I know I was! The most incredible development of the entire trial occurred when the prosecution mysteriously abandoned the 'chloroform search' issue. Poof! Two weeks after the jury came back with a verdict, the facts of this debacle were released to the public, ....read on:

Software Designer Reports Error in Anthony Trial

This had to be an enormous source of embarrassment for the prosecution.

As far as establishing the presence of chloroform and conclusive evidence of a premeditated homicide, the prosecution did not even get to first base. In early January, 2012, the TLC network aired what was LOOSELY referred to as a "documentary" entitled "Dr. G: Inside the Caylee Anthony Case". The information disseminated during this program was woefully slanted and polluted with vital inaccuracies.

The two most glaring examples are as follows:

First, the TLC program casually mentioned that Caylee's remains were recovered in December 2008. This was true. However, TLC seemed to hastily move on from there—going out of their way to applaud the investigative work dedicated to gleaning information from such excessively deteriorated remains. Interestingly, NO mention was made that the location of the body WAS REPORTED FOUR MONTHS EARLIER, ....with no productive follow-up exploration of that crime scene. Note that the remains were found ONLY 1/3 of a mile from the Anthony home, 19 feet 8 inches off of a paved roadway. Ten feet of this distance was a mowed, grassy border. So, ....the police unknowingly allowed vital evidentiary materials to sit in a swamp throughout most of August, all of September, October, November, and beyond. Anybody who has experienced Florida's weather during these months, ...well, ...this was an ENORMOUS gaffe!

Second, a brief segment of the TLC program showed prosecuting attorney, Linda Drane Burdick, at the trial, uttering the words "....84 Google searches for chloroform....". Unbelievable! These continued references to that which has—LONG SINCE—been disproven, leaves me searching for the most indignant, ....but appropriate response. Words from Joseph Goebbels provide a suitable commentary on TLC's sorry excuse for a documentary: "If you tell a lie big enough and keep repeating it, people will eventually come to believe it." Goebbels continues ".....for the truth is the mortal enemy of the lie,...." Perhaps I am the one—not TLC—who has it all wrong here. If it *somehow* turns out that the estimation of 84 searches was correct after all, I will immediately print a retraction.

The facts are what they are: Additional articles on this software fiasco are as follows:

"Chloroform" Error Reported In Casey Anthony Case

Casey Anthony Trial Witness John Bradley Backtracks After Blasting Prosecutors

State: Casey Defense, Court Knew of Software Issues

New Evidence in Casey Anthony Trial Shows Prosecutors Were Willing To Do Anything To Win

At times during the trial, the prosecution DID present their evidence quite effectively. However, the moment has arrived for these good people to stop attempting to shift blame onto the jurors. The jury didn't blow this one, ....you did. The original indictment limited the jury's options. Other than pursuing the defendant for lying to the police, ....uh, ......yes, that was a slam dunk, ......the charges were as follows:

First Degree Murder, Aggravated Manslaughter, Child Abuse.

Fortunately, new laws have been crafted that will severely punish individuals who do not report a child's death within one hour, ....or who do not report a child missing within 24 hours after the event. I personally cannot imagine how the penalties for these crimes will be severe enough. It is truly sad that our society has deteriorated to the point at which we actually need such laws.

The next article is entitled: Society’s Latest Legal Disaster

Michael J. Spence, Ph.D.

January 17, 2012

DNA Mixtures: Interpretation versus Misinterpretation

Continuing on the topic of ‘criminal trial DNA controversies’, the presence of DNA mixtures on evidence items has been at the center of countless courtroom skirmishes. Fundamentally, these battles originate with the very nature of a DNA profile. The final product of DNA typing from a crime lab might look something like this example:
                                       
Locus 1                                  17, 18
Locus 2                                  7, 7
Locus 3                                  29, 30.3
Locus 4                                  18, 18
Locus 5                                  11, 12
Locus 6                                  10, 13
Locus 7                                  9, 10
Locus 8                                  9, 9.3
Locus 9                                  10, 10
Locus 10                                11, 14
Locus 11                                12, 12
Locus 12                                8, 11
Locus 13                                24, 27
Gender Locus                       X, Y

Rest assured that the data shown above was NOT derived from any actual person. This person—if real—would be a male (as indicated by the ‘XY’), and the names of the loci are NOT Locus 1, Locus 2, etc. The actual human loci have tricky designations like vWA, TPOX, and DS1358, etc. If a DNA profile, resembling the example show above, did indeed come from a particular individual, this male would almost certainly be the only person on our planet (other than an identical twin) with this precise variety of genetic markers. Doubts concerning the rarity of forensic DNA profiles have been debated for a few years now. For more info on this, look at this L.A. Times article covering THE FBI, ARIZONA DNA DATABASE SEARCHES, AND THE BIRTHDAY PARADOX.

It is important to note that—with rare exceptions—each human has two DNA markers at each locus. These markers are often different from each other (example from above: the 17 and 18 at Locus 1), but sometimes we receive—from our mom and our dad—two copies of the same DNA marker (example: the 7 and 7 at Locus 2).

Imagine that you are a forensic biologist, working in a police crime laboratory. If you want to take it a step further and pretend that this is your favorite TV drama, CSI: Miami, be my guest. Perhaps the murder weapon—a hunting knife—was left at a downtown Miami crime scene. The DNA swab from blood on the knife blade clearly established that the victim was stabbed with this knife.

When you collect a second swab from the knife handle, you are hoping to detect a single-source DNA profile, presumably, left by the murderer—who recently handled the knife. Hopefully, that DNA profile, would appear somewhat similar to the pattern of numbers in my fictional example—shown above. To your dismay, ….there are WAY TOO MANY DNA markers on the knife. At a few loci, you see two genetic markers, but at other loci, you observe, three, four, five, ….and in one case, a locus with SIX genetic markers.

Welcome—rookie forensic biologists—to the world of DNA mixtures. When you compare your ‘inventory’ of DNA markers from the knife handle, you see little or no resemblance to the DNA profile from the victim’s blood that you have already detected on the knife blade. That was a job well done, as you intentionally AVOIDED collecting any blood residue when you prepared the swab sample from the knife handle. At this stage, you can ONLY conclude that multiple individuals have—at some point in time—deposited DNA on this knife handle. You cannot say—with certainty—that this is ‘touch DNA'—since you have conducted NO TESTS to identify the type of cells on the knife handle.

You also cannot say—precisely—how many individuals have left some DNA on the knife handle. However, the presence of SIX DNA markers at one locus, indicates that it was AT LEAST three individuals. If SEVEN DNA markers had been detected on one or more loci, you would have to assume AT LEAST four contributors of DNA.

Now comes the challenging part. Your esteemed associates with the local police department have apprehended a promising suspect. Since this suspect has been convicted of a variety of past crimes, the state already has his DNA profile on record. Eagerly, you access this information to see if this man’s DNA profile shows similarities to the abundance of DNA markers detected on your knife handle.

The excitement builds as you begin to see distinct similarities. Eureka! As you continue to scan the data, you become a bit dejected to see that the apprehended suspect has a 16 DNA marker at Locus 4. But NO 16 marker was detected at Locus 4 on your knife handle! You begin to wonder, "How should I interpret this?"

Do not despair, ….there is such a thing in forensic biology as ALLELIC DROPOUT. When a PARTIAL DNA PROFILE is observed, some DNA markers might be detected, ….whereas others might not show up among the data. This could be due to the fact that the contributor simply did not leave behind enough DNA to get a full-profile. As you think this through, you realize that this ‘allelic dropout’ effect could certainly happen within the context of a DNA mixture. ONE lousy DNA marker somehow evaded detection, ….so what?

As you continue your evaluation, you find that the suspect has a total of 22 different DNA markers. All but ONE of those markers (that nasty little 16 ‘dropout’ at Locus 4) are present within the mixture of FORTY-SIX DNA markers on the knife handle. Who are those other two individuals-contributing DNA to your knife handle? Who cares? These data look pretty good after all!

As you settle in to write your DNA report, your crime lab has provided you with clear guidelines as to how the results of DNA comparisons must be summarized. Upon comparing a known DNA profile (from the suspect) to a DNA mixture—such as the 46 DNA markers detected on the knife handle—the majority of crime labs provide the analyst with a few distinct reporting options: 1) The analyst can report that there is a perfect, single-source match between the known DNA from the suspect and the DNA on the knife handle; 2) The analyst can report that the suspect is EXCLUDED as a potential contributor of DNA to the mixture of markers on the knife handle; 3) The analyst can report that the suspect cannot be excluded as a potential contributor to the DNA mixture on the knife handle; 4) The analyst can report that the DNA data are insufficient to reach any reliable scientific conclusions—without the benefit of more testing and additional data.

Option 1 and Option 2 CLEARLY do not fit the data. There is no single-source match. There are at least 24 unaccounted for DNA markers on the knife handle and one of the suspect's DNA markers is entirely absent. Excluding the suspect as a potential contributor is equally incorrect. Similarities between his DNA and the observed mixture indicates that his genetic material may be present as component of the mixed DNA. This leaves ONLY the last two options. Arguments over Option 3 and Option 4 continually spawn countless, heated courtroom battles.

Trust that I have reviewed many DNA mixture cases—involving much more than 46 total observed genetic markers and more than just one ALLEGED allelic dropout. Sometimes the crime lab analyst refuses to admit that the observed data are all but worthless. In some of those cases, there were multiple suspects, multiple victims, and possible contributing bystanders, ….including individuals who are known to be GENETICALLY RELATED.

The unfortunate bottom line is as follows: There are no clearly defined and accepted, universally-enforced guidelines for the analysis of DNA mixtures in criminal cases. Furthermore, there are no precise guidelines for how any DNA mixture should documented in lab reports and explained to jurors. Some may argue that guidelines ARE being proposed, documented, and debated. However, I have personally witnessed little more than a multitude of disjointed, loosely defined sets of instructions—often quite vague—from city to city, county to county, and state to state.

For this reason, Spence Forensic Resources has outlined a policy on TRIAL PREPARATION, with a focus on scrutinizing/interpreting DNA mixtures observed by the various reporting laboratories. The steps for these interpretations are as follows:

Step 1: Analysis of electropherogram data to ensure that the profile in question is, indeed, a mixture. When a single source DNA profile from an evidence item matches the profile of a known reference standard, with the exception of ONE additional allele, it is my opinion that no statistical conclusions should be drawn from that single allele. This is especially true when the single allelic peak height is relatively low, or can potentially be attributed to an artifact of the PCR process or capillary electrophoresis.

Step 2: In the event that a genuine mixture is being called, SFR will evaluate the mixture for the possible presence of a major profile, plus one or more minor profiles. The alternative to this would be the apparent presence of NO major profile, ONLY minor, indistinguishable sources of DNA. This evaluation is dependent upon a detailed assessment of the peak height landscape of the entire mixture profile electropherogram-with consideration of the potential contributing reference standard profiles. A final determination will be at the discretion of the analyst, based on years of experience in evaluating hundreds of DNA profiles.

Step 3: If three alleles are present at two or more loci, the mixture includes at least two individuals. If five alleles are present at one locus or more loci, the mixture includes at least three individuals. If seven alleles are present at one locus or more loci, the mixture includes at least four individuals, and so on.

Step 4: On a case by case basis, SFR will evaluate of the capacity of each mixture to be interpreted through sound, reasonable, scientific methods. A variety of factors can contribute to the conclusion that a DNA mixture is simply unsuitable for a reliable interpretation. These factors include, but are not limited to the following: 1) The number of contributors to the mixture-the greater the number of total alleles observed, the less potential there is for a reliable statistical conclusion. 2) When indistinguishable minor contributors are relatively equal donors of DNA, little can be gained from scrutinizing allelic imbalances. 3) When alleles overlap, such as might be expected from contributors who are genetically related or from the same ethnic population pool. 4) When one or more unknown individuals have contributed to the mixture profile, i.e. they have donated DNA alleles that cannot be correlated with the available known reference standards. 5) Allelic dropout has to be assumed in order to make non-exclusion calls.

 

Step 5: In the event that a genuine mixture is called, the degree of allelic dropout may be cautiously evaluated for the potential exclusion of each suspected contributor. When a key suspect or victim reference standard profile is to be compared to a DNA mixture, the absence of ONE allele from the mixture could be evidence for potential exclusion. An example of this would be that Suspect A has a 9, 11 DNA profile at a given locus. In the mixture profile, a 9 allele-with a substantial peak height-is observed that cannot be attributed to any other suspected contributors to the mixture. Meanwhile, there is a clear absence of an 11 allele in the mixture. Observation of additional dropout events corresponding to Suspect A would further strengthen the cause for exclusion. By assessing the peak height landscape of the DNA mixture electropherogram and the number of apparent allelic dropout events, SFR will utilize years of experience-evaluating hundreds of DNA mixture profiles to arrive at decisions on exclusion or non-exclusion.

Step 6: When a mixture is judged to be suitable for interpretation and there is insufficient evidence for exclusion, the probability of exclusion will be calculated for the mixture. If there is evidence of allelic dropout at a particular locus, that locus will not be used in the probability of exclusion calculation for the mixture.

The next article is entitiled:

The Casey Anthony Media Circus

Michael J. Spence, Ph.D.

January 11, 2012

Criminal Trial Controversies: DNA Transfer Events

Previously, I discussed the circumstances that might persuade defense attorneys to explore using a DNA expert. One of these perplexing circumstances is driven—in part—by astonishing advances in the sensitivity of DNA detection. Recent DNA technologies, referred to as LOW COPY NUMBER (LCN) analysis (also called ‘low template’, ‘high sensitivity’, or ‘trace DNA’ analysis) allows crime lab analysts to PUSH DNA DETECTION CAPABILITIES to the point at which useful data is obtained from only 15-20 cells, or perhaps as few as just 1 or 2 cells. Such extremes in testing sensitivity are causing courtroom battles to emerge, due to the mere LIMITATIONS OF SCIENTIFIC ACCEPTANCE. Adding fuel to this fire, these conflicts intensify significantly when DNA expert witnesses fall into the trap I prefer to call the 'touch DNA misnomer'.

Embracing the phrase "touch DNA" on the witness stand, with NO scientific proof that touching ever occurred, is the 2011-2012 idiotic equivalent of yesteryear's 'DNA Fingerprinting misnomer'. STR-based forensic DNA typing technology involves NO examination of fingers. Nor does it relate to latent print examinations, an entirely separate forensic discipline. Why do some individuals insist upon confusing society with terms that simply do not apply?

 

HOW DOES ANY TYPE OF TRACE MATERIAL END UP ON A SPECIFIC SURFACE?

In 1910, Dr. Edmond Locard, professor of forensic medicine at the University of Lyons, France, was the founder of the world's first forensic science lab. This great scientist was also the first forensic scientist to formally emphasize the importance of transfer events in the investigation of crimes.

Dr. Locard's incredible intuition evolved into the time-tested Locard Exchange Principal, stating that "Every contact leaves a trace." Locard's principal became universally accepted over forty years BEFORE James Watson and Francis Crick proposed the first accurate model of the DNA double helix. The exchange principal was also widely embraced over seventy years BEFORE Colin Pitchfork became the first person to be identified and convicted of a crime, using the power of DNA typing.

As an insult to the celebrated history of Dr. Locard's principal, *some* modern day prosecutors—with the support of their crime lab analysts—attempt to downplay the plausibility of DNA transfer events. Despite the fact that the crime scenes are crawling with CSI's who enthusiastically center their efforts on Locard's teachings, some courtroom comedians are allowed to drone on with their ridiculous folly of reasoning. JURORS PLEASE TAKE NOTE: TRACE MATERIAL EXCHANGE EVENTS ARE NOT THE PRODUCT OF OVERACTIVE SCIENTIFIC IMAGINATIONS.

The ludicrous efforts to downplay Locard are readily invalidated. EVERY WINTER—new strains of common cold viruses and influenza viruses succeed with their inevitable campaigns of terror throughout earth's human population. How do these prosecutors and their supporting scientists (and I am using the term ‘scientists’ loosely) suppose these viruses are so swiftly spread from human to human?

During a particularly frosty stretch of weather, look around, visit various homes, take a stroll through the local mall. Nasal cavities are draining, infected individuals are coughing and sneezing. Crumpled up facial tissues are strewn EVERYWHERE. Those tissues came from the people who are actually considerate enough to use a Kleenex every now and then—rather than their shirt sleeves OR THEIR HANDS.

Trillions of viral particles are spread by the actions of the infected, ….to door handles, telephones, computer keyboards, car keys, steering wheels, stairway railings, currency, vending machines, TV remote controls, pens, pencils, clothing, bedding, the list is endless. Each year, we are BEGGED by the Centers for Disease Control to “Wash your hands!” Any healthy person, who fails to wash his hands, and makes the mistake of rubbing his own tired eyes, ….well, ….you do the math. It takes a number of days for viral particles to establish a foothold in a human respiratory system.

DNA differs very little from viruses. Yes, our genetic molecules are much more friendly, and not very invasive. DNA causes no sore throats, no runny noses, and no coughs. Beyond that, DNA and viruses are quite similar in that they are both submicroscopic clumps of matter. Transfer events DO occur with BOTH forms of matter. Please do not let any courtroom snake oil representatives succeed in convincing you otherwise.

Today's state-of-the-art DNA detection technology can decipher a full DNA profile from less than one BILLIONTH of a gram of DNA. One way to grasp such extraordinarily tiny amounts of DNA is to visualize the mass of material in a standard packet of artificial sweetener. These packets contain one gram of material. Imagine setting aside 1/1000th of a single packet and disposing of the remaining 999 parts. The spec of powder set aside would weigh one milligram. Now imagine setting aside 1/1000th of this milligram and discarding the remainder. You now have one microgram of material (which is 1/1 millionth of the original sweetener packet). This amount of material cannot be clearly seen without the use of a microscope. By some means, you must now set aside 1/1000th of your microgram of artificial sweetener-this is one nanogram, or 1/1 BILLIONTH of the original starting material. One nanogram of DNA is PLENTY of genetic material for generating a FULL DNA profile. The astonishing sensitivity of forensic DNA typing technology does not diminish the fact that we are indeed working with a profoundly tiny mass of DNA.

Scientific debates focusing on the mechanisms of casual/incidental transfer events, involving such tiny amounts of DNA, are far from settled. In December 2010, some of the world's most renowned authorities on forensic trace DNA (Roland Oorschot, Kaye Ballantyne, and R. John Mitchell), published a REVIEW in Investigative Genetics. Quoting these authors directly from the "Transfer Issues" section of the review:

"Greater effort needs to be made by police/crime investigators to investigate how a DNA sample arrived at the location where it was found, as well as by scientists to better understand the impact of activities on the relative amounts of DNA from particular sources at a crime scene. In some instances, it is possible to derive the chain of events that led to a trace DNA sample being present at a crime scene - for example, prior visits to the scene or the known use of an item. Awareness of these variables, and their impact on transfer events, will assist in weighting the likelihood of proposed alternative scenarios." 

In 2010, Allan Jamieson and Georgina Meakin of The Forensic Institute (Glasgow, UK), published an article in The Barrister Magazine entitled: "EXPERIENCE IS THE NAME THAT EVERYONE GIVES TO THEIR MISTAKES"

The following is a quote from this article:

"The examination of evidence for handler DNA can reveal DNA of people who have, or have not, handled the item; the stronger profile may, or may not, be the person who last handled the item; An inference of direct contact between an individual and the item may or may not be supportable, depending on the circumstances of the case. In other words, we did not know enough to make any sensible scientific judgements as to how DNA came to be on an item." 

Later, the article continues:

"Frequently, the underlying hypothesis is that touching, or direct contact, is a more likely scientific explanation for the finding of a DNA profile on an item than indirect contact. This to the extent that it may be described as providing ‘extremely strong’ support for direct versus indirect transfer.  In our view, such an opinion on DNA transfer is not supportable based on case experience or on the available scientific research."

Finally, a 2009 article in Law Officer (a journal for police and law enforcement) is entitled: 'TRANSFER THEORY IN FORENSIC DNA ANALYSIS'. The author, Suzanna Ryan, arrived at the conclusion:

"Obviously, the inadvertent transfer of DNA is an area that should be further studied. Since so many of the available journal articles present conflicting information, more work is needed to see how likely it is to both transfer and detect DNA in a secondary or even a tertiary fashion, especially considering the sensitivity of modern forensic DNA analysis."

It is vital to keep in mind that the average adult human sheds approximately 36,000 skin cells every 60 seconds. This number varies broadly among individuals, as there are profound differences between those who can be characterized as 'good shedders', and others who are 'poor shedders'.

A single drop of saliva, expelled during a cough or a sneeze, will contain approximately 500,000 salivary epithelial cells. Forensic Biologists can attest to the fact that 500 to 10,000 nanograms of DNA are routinely recovered durng collection of a single oral swab. Once again, recall that ONLY ONE NANOGRAM is optimal for generating a complete DNA profile. This mass of DNA can be readily extracted from as few as 200 cells. This tiny number of cells could sit-nearly invisible-upon the very tip of a toothpick.

How many falsely accused individuals have been wrongfully imprisoned as a consequence of a few hundred cells finding their way to an incriminating location?

The next article is entitiled:

DNA Mixture Interpretation versus Misinterpretation

Michael J. Spence, Ph.D.

January 7, 2012

Why Defense Counsel Might Need A DNA Expert

In the January 3, 2012 blog article entitled, DNA Technology and Our Criminal Justice System, the key objective was to establish that forensic biology/DNA testing is by no means infallible. This is not to say that the technologies currently being used for evidence examination, body fluid identification, and DNA typing are anything but remarkable. However, challenges can emerge when the crime scene provides evidence that *seems* worthy of testing, but the scientific results simply fall short of providing any definitive answers. The case investigation and the legal proceedings become vastly problematic if forensic biology experts (either for the prosecution or the defense) allow themselves to SPECULATE beyond the scientific data. In the absence of definitive answers, one MUST NOT venture beyond the appropriate scientific interpretations.

As any investigation nears completion, the investigators, the crime lab, and the prosecution are obligated to provide their findings to the defense team. During 2003-2007, I was employed by the Indiana State Police as a Forensic Biologist. All of my 100+ case files included evidence item lists, detailed bench notes, meticulously prepared worksheets, microscopic exam observations, body fluid test results, DNA data, statistical calculations, and records of all of my communications with investigators, and prosecutors. Lastly, the results of each case were summarized within one, or a few brief reports.

The prosecution rarely asked me to provide any significant details beyond those few brief reports. On sixteen occasions, the prosecution required my testimony. I routinely took my place on the witness stand with my entire case file, a sizable stack of information-most of which neither the prosecution nor the defense attorney had ever seen.

As I look back on these events, I now find it quite baffling that both sides paid little more than sparse attention to the details outlined in my supporting case documents. The prosecutors at least had a reasonable degree of access to discussing various issues as the trial dates loomed ahead. Consequently, they occasionally made an effort to verbally explore a few details pertaining to the forensic analysis process. Outside of strict adherence to the discovery process, the defense counsel remained entirely in the dark.

Indiana State Police Forensic Biologists were instructed NOT to discuss any case issues with anyone other than the investigators or the prosecution. Through prior notification and approval, only formal requests for a deposition were allowed. Other than just a few depositions—over the course of four years at the crime lab—I was never called, e-mailed, or otherwise approached by any defense attorney—until I took the witness stand.

The vast majority of public defense attorneys, as well as private attorneys, have limited intimate knowledge regarding the inner workings of DNA analysis. Although most prosecutors are equally confused by the complexities of forensic biology, at least they have the luxury falling back on the expertise of the crime lab analysts. Where can the defense attorneys turn for clarification of complicated, troubling scientific issues? The cruel reality is that, in many circumstances, the mere, incidental reference to "DNA evidence", can cause the entire defense team to WITHER, FOLD UP THEIR TENTS, AND RETREAT. Such an unconditional surrender is particularly prevalent when the prosecution hints that “My DNA case looks pretty good.”

At this stage, readers might be realizing the potential gravity of the slanted criminal justice playing field—favoring the prosecution—and to the detriment of the accused. Note that the prosecution always has a ‘built in’ forensic DNA expert. Not just ANY expert, but a trained expert, working in a crime lab, with unlimited access to the criminal case evidence. In contrast, the defense counsel has, …well, …a license to practice law.

The marriage between criminal case law and forensic DNA technology is-on the surface-a perfect match. However this 'lopsided' forensic biology issue, can sometimes create an obstacle against the concept of a fair trial. Thus, the key question: WHAT SOLUTIONS ARE AVAILABLE TO ESTABLISH A LEVEL PLAYING FIELD IN FORENSIC BIOLOGY—to ensure fair trials for all citizens who have been accused?

First, let us assume that biological evidence WAS collected during a criminal case investigation. Let us also assume that either body fluids were identified, or DNA was successfully typed, ....or BOTH. Regardless of the prosecutor's intentions to use the reports and/or testimony from the crime lab analyst, the defense MUST obtain the reports-ASAP. The following scenario demonstrates WHY a sense of urgency is necessary:

Suppose that evidence has been collected from a homicide occurring at a residence. Let us also suppose that only ONE DNA profile was successfully typed as part of a multi-layered investigation. As time passes and hearings are conducted, the prosecution focuses on various aspects of the investigation, while devoting little or no attention to any DNA issues. The defense team might interpret this as a hint that the investigation must have failed to reveal any DNA results placing the defendant at the crime scene. The defense breathes a sigh of relief and moves on to other worries.

Much later, it becomes clear that the ONE DNA profile at the crime scene has originated from an unknown individual. Naturally, the prosecutor assumes that the unknown DNA type has nothing to do with the homicide. The genetic material-although present at the crime scene-was *probably* ‘incidental transfer DNA’ from an innocent friend, relative, neighbor, or perhaps the cable guy.

With these assumptions keeping the defendant wasting away in a local jail for untold months, the allegedly 'incidental' unknown DNA profile suddenly generates a 'hit' on a national DNA database. When the investigators check the identity of this 'hit', they are horrified to learn that this potential suspect has recently been incarcerated for a previous homicide. Upon visiting the prison and interrogating the prisoner, the man freely admits to participating in the '2nd' homicide. When asked about the defendant—who by the way, is STILL locked up in the local jail—the true perpetrator of the crime laughingly informs the investigators, “That guy wasn’t there. I don’t even know him.” A case resembling this scenario ACTUALLY OCCURRED.

Looking back at such a case, one has to wonder what would have happened if the crime lab had simply stored that one DNA evidence item—without ever testing it. What would have happened if the prosecution had decided NOT to introduce any biological/DNA evidence or insist upon any DNA testimony? The accused would most likely still be in prison.

When the defense team DOES receive an indication that there will be a forensic biology/DNA aspect of an impending case, the reports need to be promptly obtained and carefully reviewed. There are generally two types of reports released by forensic biologists at the law enforcement labs. One type is referred to as a Serology Report, or an Evidence Examination report. This is a summary of how the analyst examined each evidence item and the body fluids that are either presumed or confirmed to be present.

A subsequent report might summarize the results of DNA testing. Note that some crime labs direct their analysts to pool all of this information into ONE report—summarizing BOTH the evidence examination—as well as the DNA data. Also be aware that supplemental reports are often released—addressing the analysis of additional items that the investigation team decided to examine at a subsequent date.

In the event that a person on the defense team recognizes questionable issues within the reports, a DNA expert should be utilized for a thorough case evaluation. Note that Spence Forensic Resources provides excellent expertise and support relevant to the DISCOVERY PROCESS AND TRIAL PREPARATION. 

The most notable ‘red flag’ issues in the crime lab reports can be varied. When the word “mixture” is mentioned anywhere on a DNA report, outside consultation is a MUST. I have noticed that some crime lab reporting guidelines actually choose to avoid the term “mixture” in their reports. Instead, the reports generically refer to the “DNA profile” and refer to a major component, minor components, minor alleles, etc. When a trained a forensic DNA consultant comes across such terms as “major” and “minor” it is clear that a DNA mixture has been observed. However, mentioning ‘major/minor’—without clarification for non-scientist readers—hints at an intentional effort to skirt the issue—that multiple DNA profiles have been found upon an isolated surface.

Although DNA reports typically list each item, and will attempt to clarify WHO left DNA on each item, only the analyst bench notes can clarify PRECISELY WHERE the tested material was taken from the evidence. Note that the evidence item might be as small as a paper clip, or as large as a pick-up truck.

Only the DNA quantification data—which is typically found among the supporting documents—can reveal precisely HOW MUCH (or how little) DNA was recovered. Note that I have NEVER seen DNA quantitative data in a DNA report. Sometimes, "HOW MUCH?" is the paramount question.

As my readers may have already heard before (and I will emphasize it countless more times): Be it ever so powerful, DNA technology cannot tell us WHEN DNA was deposited at a specific location. DNA testing also cannot tell us HOW the DNA came to be at that location.

If any DNA report includes the phrase “touch DNA”, the analyst and the crime lab’s Quality Assurance Manager should both be immediately incarcerated. Use of such glaring, scientific misnomers in a report, or on the witness stand, is an appalling breach of professional ethics. 

Until new forensic tools are discovered, today’s technology is incapable of confirming that DNA is present because the sampling site HAS BEEN TOUCHED, or HAS NOT BEEN TOUCHED. Consequently, how can it be scientifically accurate to testify to the accuracy of the phrase “touch DNA” when there is no validated test confirming that touching ever occurred? Competent scientists will resist falling into the trap of prejudicial misnomers and mis-characterization of the results. Acceptable alternative phrases include LOW COPY NUMBER DNA, or TRACE DNA. These terms indicate tiny quantities of DNA, but imply NOTHING about how the DNA came to be at a specific location. In the near future, I will devote an entire article to this topic: Criminal Trial Controversies: DNA Transfer Events

The individual assigned by the defense to initially assess a forensic DNA lab report, must take into consideration the context of the case circumstances. DNA mixtures, tiny deposits of DNA—from either a confirmed body fluid, or some undetermined cell type—should all be viewed as they relate to the statements from the defendant and various witnesses.

Just one example: Perhaps a witness saw a carjacker attempt to use a rag to wipe fingerprints from the steering wheel moments before exiting the vehicle and fleeing the scene. If this is correct, why is the prosecutor convinced that the DNA mixture detected on the steering wheel is providing enormous revelations about the crime? Perhaps the rag in question was recovered by a CSI, but was—for some reason—never tested for DNA. How do we know that the defendant’s DNA was not deposited onto the steering wheel, ….from the rag? Does anybody ever collect a ‘substrate control’? A future article will center on the importance of SUBSTRATE CONTROLS.

Such issues and observations—which will vary dramatically from case to case—may give defense counsel a powerful cause for filing a motion to bring a DNA expert onto the defense team. Perhaps it might also become necessary for the defense team to craft an outsource DNA testing strategy. Every criminal case is different.

The next article will be entitled:

Criminal Trial Controversies: DNA Transfer Events

Michael J. Spence, Ph.D.

January 5, 2012

DNA Technology and Our Criminal Justice System

Some of what you see on the popular crime scene investigation TV dramas is an accurate reflection of real world investigations. Most of what you see is somewhere between questionable and downright laughable. The objective of the real world investigators is to examine all aspects of the criminal incident, the place(s) where the crime occurred, as well as the people involved. A broad range of evidence items are collected, packaged, and delivered to the crime lab.

Ample communication between the investigators and the crime lab analysts assigns a level of priority for the examination of each item. The crime labs are populated with individuals possessing a variety of specialized skills and technological tools. A brief-but extremely informative- INTERVIEW WITH DR. RICHARD SAFERSTEIN illuminates the basics of crime scene analysis and dissects how evidence is supposed to be processed through the crime labs.

It is noteworthy that—for twenty-one years—Dr. Saferstein headed one of the largest forensic laboratories in the U.S., the New Jersey State Police Crime Lab. Although he is now retired, the man served as a forensic expert witness associated with over 2000 proceedings in nearly 150 federal and state courts. Dr. Saferstein literally wrote THE BOOK on forensic science. Criminalistics: An Introduction to Forensic Science, is currently in its ninth edition. In 2006, Dr. Saferstein received the American Academy of Forensic Sciences Paul L. Kirk Award for distinguished service and contributions to the field of Criminalistics.

FORENSIC SCIENCE DISCIPLINES used at the crime labs can include analysis of the following: DNA, blood spatter patterns, trace materials, latent prints, footprints, tire prints, drugs, ballistics, tool marks, forensic anthropology, forensic entomology, digital/computer forensics, and handwriting/document examinations.

This article--and the vast majority of content on this blog--will focus on DNA. Biological material detected on evidence items can lead to the characterization of useful DNA profiles. For any criminal case, DNA technology offers the potential to emerge as a dazzling investigative game changer. With that said, ...and as powerful as genetic technology truly is, there is never a guarantee that useful DNA results will be found on any of the evidence collected from a given crime scene. In fact, investigations that uncover significant DNA data are clearly outnumbered by the many cases in which the technology never becomes a factor.

The biggest disparity between real life criminal cases and the CSI dramas boils down to realistic versus unrealistic investigative instincts. The TV actors portraying CSIs somehow possess a MIRACULOUS knack for looking precisely where they need to—without fail—in every single episode. In real life, the investigators and forensic biologists may have respectable intuitive abilities. However, if every law enforcement professional possessed superhuman psychic powers, DNA-based exonerations would never be necessary and would never happen. According to the INNOCENCE PROJECT WEBSITE, as of the end of 2011, 283 wrongfully accused individuals have been set free as a consequence of DNA testing. Although I occasionally tune in to the Investigation Discovery Channel for 48 Hours, Dateline, or On the Case With Paula Zahn, I rarely find myself pausing briefly on one of the CSI dramas. Can any of my readers please let me know if these fictional programs have ever mentioned the alarming inventory of wrongful convictions that continue to be reversed by DNA?

Let us put aside the many criminal cases that do not involve any notable DNA results. Let us also consider that *sometimes* the biological/DNA evidence clearly identifies a wretched perpetrator-who is justifiably whisked away to prison by the irresistible force of DNA typing evidence—and perhaps a mountain of other, supporting facts that establish their guilt.

What remains is a small percentage of investigative cases trickling into our criminal justice system. This article is centering on those cases involving biological/DNA testing, with results available to both the prosecution and the defense, but with conspicuous or subtle ambiguities residing within the scientific data. These ambiguities can lead to baffling misinterpretations and fierce controversies playing out in our courtrooms. As small as this percentage of cases might be, consider this: Approximately 2.2 to 2.5 million Americans are currently incarcerated in our jails and prisons. If only one out of every 100 of these cases involves disputable biological/DNA interpretations, this translates into 20,000 problematic cases.

At this point, some readers might decide to shout from their rooftops, “But wait a minute! The CSI dramas have taught us that DNA evidence is infallible!” Wrong. DNA IS JUST AS PRONE TO FALLIBILITY as any of the other forensic disciplines. Perhaps our most devout CSI fans are asking, “Explain these problematic issues confronting DNA cases within our criminal justice system?” I am glad you asked.

In order to dissect these issues, we must first establish the basics of how a forensic science lab proceeds after the biological evidence is delivered by law enforcement officers. First, it is crucial to note that the individuals delivering the evidence are indeed LAW ENFORCEMENT OFFICERS. In contrast, the analysts receiving the evidence at the crime lab are SCIENTISTS. This raises an enormously important initial question: Are the scientists-who are about to scrutinize the DNA evidence-part of the law enforcement structure? Perhaps these scientists consider themselves independent of the law enforcement/prosecution team. Do the CSI dramas depict forensic biologists as sensitive souls, toiling away in the lab for the purpose of protecting the rights of the accused? If you embrace the latter option, ….please stop kidding yourself and consider watching more episodes of CSI. The scientists work for the police.

Over the course of four years, May 2003 through May 2007, I worked over 100 cases as a forensic biologist for the Indiana State Police-Evansville Regional Crime Laboratory. I considered myself an employee of the taxpaying victims of crime, and their families. My role was to serve the criminal justice system, and assist with identifying the true perpetrators of the crimes. I made countless friends with people working in law enforcement. While my scientific data-and my subsequent interpretations DID often support their causes, I was not working strictly for the police.

The first step in forensic biological evidence analysis is to lay out each item, one by one, and examine the items for biological material. The item can be virtually ANYTHING-an article of clothing, an empty soda can, a cotton swab from an apparent drop of blood, a knife, a toothbrush, a pillow case, etc. On more than one occasion, I opened up my brown paper evidence bag, only to find that an investigator was presenting me with, …the contents of a trash container. Forrest Gump’s assessment of a box of chocolates comes to mind.

After an initial round of scrutiny, spreading, sorting, under the ambient lights of the lab, items are often examined with a sophisticated ALTERNATE LIGHT SOURCE. These amazing instruments assist biological examinations by utilizing a multitude of light wavelengths. The forensic biologist is typically looking for clues pointing to the presence of blood, saliva, or semen. If any of these fluids is suspected to be present, there are a variety of universally accepted presumptive or confirmatory tests to detect them. The ultimate goal is to find sources of DNA.

On any given item, a scientist might expect to find trace amounts of DNA (guns, knives, tools, cotton swabs from door knobs, windows, steering wheels, etc.), wearer DNA (clothing). Epithelial cells/skin cells have a tendency to slough off of human beings at a steady rate, and attach themselves to a variety of surfaces.

Once the sources of biological material are presumed to be found-the forensic biologist extracts and ‘cleans up’ the DNA from these sources. The amount of extracted DNA can be estimated by utilizing a sophisticated machine, called a Real-time PCR instrument. Real-time PCR technology can estimate the recovery of incredibly small quantities of DNA—well beyond ONE BILLIONTH OF A GRAM. If you are not a big fan of the metric system, go make yourself a cup of tea. A typical packet of artificial sweetener contains one gram of material. One billionth of that packet is a nanogram, ….which is invisible to the human eye.

When a forensic biologist introduces a DNA sample into the DNA typing system, he/she might load in, let us say 10 billionths of a gram (this is 10 nanograms). The DNA typing results would most likely provide a mess-TOO MUCH DNA! Only a nanogram or two is needed for the DNA typing process to work optimally. If a forensic biologist determines that only ¼ of a nanogram is available for the DNA typing process, it would not be a surprise to get a complete DNA profile anyway. The sensitivity of DNA typing is truly astonishing.

Allow me to pause here and encourage readers to skim through my various POWERPOINT PRESENTATIONS—which can illuminate DNA technology/criminal cases, DNA testimony, DNA transfer events, and other topics. Thus far-I have tried to avoid burdening my readers with the technical details of precisely HOW a forensic biologist determines a DNA profile from as little as one nanogram of DNA. This process is called “STR typing”, and it utilizes what is referred to as “PCR”. STR is an acronym for Short Tandem Repeats. PCR is an acronym for Polymerase Chain Reactions. It is important for a DNA expert to avoid belaboring an explanation of such acronyms to juries and overwhelming them with too much scientific jargon. If you catch me doing that, I apologize—please let me know.

The following information demonstrates how I avoid these pitfalls, as I help juries to visualize the basics of how the complicated STR-based DNA typing process is accomplished:

Individuals receive half of their DNA from their mom and half from their dad. With few exceptions, siblings will have very similar DNA, whereas identical twins will have the exact same DNA profile. The vast majority of cells in your body will have a full complement of your DNA-and this DNA will be identical from cell type to cell type, from head to toe. Your DNA is composed of long chains of building blocks, ….billions of them. Think of your genetic material as a huge book of information, ….a book so large, it would dwarf War and Peace. 

Just a couple of decades ago, human genome scientists and forensic scientists put their heads together to develop a DNA-based identification system. The scientists knew that it would be impractical to have crime labs sift through billions of building blocks of information from each crime scene sample. The analyst would essentially have to sit down and read War and Peace—for each sample! As this would cause nervous breakdowns and bankrupt the crime labs, the scientists managed to unveil certain ‘identifier pages’ within the huge genetic book of DNA. These few pages showed significantly different information from one individual to the next. Once these pages were revealed, a process (PCR) was developed to capitalize on the discovery.

The PCR process can be visualized by jurors as a “molecular photocopier”. PCR targets only these identifier pages of the book and makes numerous copies of each page. Specifically, fourteen separate pages became the main focus of this human identification project. Each page is a genetic location—called a ‘locus’. One of the fourteen loci tells us ONLY the gender of the person being typed. Cumulative information from the remaining thirteen specific loci, demonstrates a genetic pattern that serves as a unique identifier for a each person (except for identical twins). In 1993, Kary B. Mullis was awarded the NOBEL PRIZE IN CHEMISTRY, for developing the PCR process that made all of this possible.

With PCR technology, the forensic biologist can take—for example—a tiny, isolated speck of blood from a crime scene, extract the DNA, quantify the DNA, and rapidly determine the STR typing data. The scientist can subsequently collect known standard DNA typing data from a suspect, an alleged victim, witnesses, etc., and *hopefully* determine the contributor of this blood speck at the crime scene. It is important to note that the DNA typing process CANNOT tell us WHEN the DNA came to be on the evidence, or HOW it came to be on the evidence.

Calculations can be made—by the crime lab—to establish the statistical probability of finding a given STR typing profile within random individuals among the human population. When a full DNA profile is determined, from a single individual on an evidence item, and it is a perfect, locus-by-locus match to a known individual, it would not be unusual to estimate that 1 out of every quintillion humans (1 out of 1,000,000,000,000,000,000) are expected have that DNA type. This number is over 140 million times larger than the entire population of the earth. Such data are compelling to juries.

Once again, my readers might be jogging back to their rooftops and shouting, “CSI must be right after all. How can 1 out of every 1,000,000,000,000,000,000 be infallible?” The astonishing sensitivity of forensic DNA typing (detection of mere fractions of nanograms) and the dazzling discriminating power of forensic DNA (probability of inclusion statistics reaching the quadrillions, quintillions, sextillions of human beings?) is NOT where these processes are fallible. Fallibility enters the equation when human beings are asked to scour the crime scenes, collect the evidence, examine the items, and interpret the biological/DNA data. Human errors and misrepresentations of the facts associated with these tasks are the points of origin that can ultimately lead to wrongful convictions.

The role of DNA technology in our criminal justice system can go terribly wrong in many ways. Examples of these troubling circumstances can include, but are not limited to the following:

• DETECTION OF DNA MIXTURES, sometimes originating from multiple, unknown individuals.
• A partial DNA profile is observed-with the DNA potentially originating from a variety of related, genetically similar individuals.
• Profoundly small quantities of DNA are recovered from items that either were not—or could not—be assessed for the presence of saliva, blood, or semen. In such cases, the collection of substrate controls can have a profound impact on the DNA results.
• In addition to failing to collect substrate controls from a crime scene, it is possible for the CSI to overlook that one VITAL piece of biological evidence that would have identified the actual perpetrator of a crime.
• Perhaps that one vital evidence item IS collected, but is kept in storage, overlooked by the forensic biologist, and never examined for body fluids or DNA.
• Misinterpretation of presumptive body fluid tests as confirmatory proof that the body fluid is present. The FBI Crime Lab was at the center of an EXAMPLE OF SUCH A CASE.
• Forensic DNA typing can be misrepresented to juries when the crime lab analyst is allowed to speculate as to HOW or WHEN DNA became associated with an evidence item. For example, referring to a trace amount of DNA as “touch DNA” when there is no evidence that the item was ever directly handled by the individual with the matching DNA profile.
• Forensic DNA typing results can be misrepresented to juries when the crime lab analyst is allowed to testify and discuss sub-threshold signals detected on DNA typing electropherograms-contradicting the fact that the crime lab guidelines clearly warn that these signals may be procedural artifacts-rather than actual DNA.
• Contamination of crime scene evidence with DNA sources that are unrelated to the criminal investigation. EXAMPLE OF THIS.
• Important note: In many instances, collection and testing of substrate controls at the crime scene is a valuable consideration. Such scientific controls can provide experimental safeguards illuminating the MECHANISMS by which DNA might have arrived at a specific location. For more information on the utility of substrate controls, refer to the INTERVIEW WITH DR. RICHARD SAFERSTEIN.

This article has only begun to scratch the surface of why we—as a society—must carefully monitor the dynamic role of DNA technology in our criminal justice system. Future articles will summarize specific examples corresponding to the bullet list provided above.

Michael J. Spence, Ph.D.

January 3, 2012