DNA Consultants Home of the DNA Fingerprint

CARLSBAD, Calif., April 1, 2013 /PRNewswire/ -- As the global market leader in human identification, Life Technologies Corporation (NASDAQ: LIFE) announced today it signed a global exclusive agreement with LGC Forensics for the right to distribute ParaDNA®, a portable rapid DNA system that determines the quality of human DNA faster and more economically than any existing method.  This announcement is the second in a series of new Rapid DNA products the company will introduce to expand the landscape beyond traditional Rapid DNA systems.


Watch video on how the ParaDNA works

http://paradna.lgcforensics.com/demonstration/

By MICHAEL SCHWARTZ


DNA is so tiny, only a few microns across, that we often don’t spend much time thinking about how much of our most personal and private information it contains. Yet each individual’s DNA also offers an 

While DNA may be small, it’s packed with information that has the potential to cause some pretty big problems. Uncontrolled access to this information, whether in a medical or law enforcement setting, could set individuals up for violations of privacy and discrimination, and as genetic testing becomes more common and inexpensive, the issues surrounding the protection of genetic information will become ever more pressing concerns in the larger public discourse.

Genetic privacy may not yet be a concern for most Americans, but as technology develops and practices change, it’s critical to know what risks you face as well as your rights, the laws that protect you, and how you can ensure your DNA isn’t be accessed and analyzed without your knowledge and consent.

DNA Law and Policy

While the structure and makeup of DNA has been known since the late 1950s, it was not until the 1970s that DNA was sequenced. It would would be nearly two decades before an efficient method of sequencing DNA would be developed, allowing it to be used outside of the scientific setting. Because the use of DNA profiling has only recently became practical for use in medicine and law enforcement, there aren’t yet that many laws that address the privacy and discrimination risks posed by genetic information. Here are just a few that have passed or are on the docket for the coming year that play a major role, or have the potential to, in the security of your DNA.

• Genetic Information Nondiscrimination Act:Enacted in 2008, GINA prohibits the use of genetic information in health insurance and employment. This means that health insurers and group health plans cannot deny coverage or charge higher premiums to an individual based on a genetic predisposition for developing a particular illness. It also ensure that employers cannot make any decisions with regard to hiring, firing, promotion, or job placement based on genetic data.In light of the recent growth of genetic testing, however, many think GINA needs amending. Provisions have been proposed that will help protect genetic information from being used to discriminate in life or long-term care insurance coverage and will ensure that data from genetic testing is not disseminated in research studies or other ways without an individual’s consent.The state of California has already passed state-specific laws of this nature that will ensure DNA can’t be used to discriminate in the areas of housing, education, public accommodations, life insurance, mortgage lending, and elections, so it may only be a matter of time before federal laws follow suit.
• DNA Identification Act of 1994: The DNA Identification Act was among the first laws to address the establishment of federal databases of DNA information, passed into law in 1994. The act authorized the creation of CODIS, a national database of DNA identification records of persons convicted of crimes, the analysis of DNA samples recovered from crime scenes, and the analysis of DNA samples taken from identified human remains. The act was modified in 2004 by the Justice for All Act, which expanded the offenses for which DNA could be collected, created a new system of indexing, and required national accreditation for forensic laboratories.
• DNA Fingerprinting Act of 2005: The DNA Fingerprinting Act allowed the national CODIS database to include samples from any individual from whom collection was authorized under state law. It also made it permissible for DNA to be collected from federal arrestees and from non-U.S. detainees. As a result, criminal DNA databases have rapidly expanded, with nearly all states and the federal government maintaining their own systems today. It has not been legislation without criticism, however. Some argue that it has unjustly allowed for the cataloging not only of convicted individual’s DNA but also that of those accused or arrested for a crime.
• California Genetic Privacy Law: One state that is working hard to protect the genetic privacy of its constituents is California. Authored by state senator Alex Padilla, the law would help protect genetic information from being used without consent, requiring research and health organization to acquire consent to collect, share, and retain genetic material and information. In 2006, Minnesota passed a similar law and over the past year South Dakota, Alabama, Massachusetts, and Vermont have all proposed related bills that would define genetic materials as personal property. As of yet, none of those bills have become law.

Also important to note are state laws on when and why DNA information can be forcibly collected. In all 50 states, those who have been convicted of a felony of any kind must submit DNA to both the national CODIS database and state databases. Yet policies differ from state to state with regard to when DNA evidence can be collected from those who are accused or arrested for a crime and have not yet been convicted. In 28 states, arrestees can be subject to DNA collection. Thirteen of those states collect samples for anyone arrested for a felony while the rest limit collection to violent crimes, including sexual assaults. Seven states also collect DNA for certain misdemeanors.

While this might help in solving crimes, it also poses some privacy issues. Probable cause is only required in 11 states to obtain or analyze a sample from an individual who has been arrested for a crime. More troubling, perhaps, is that even if an individual is acquitted of the charges, DNA information remains in the system unless the accused requests for it to be expunged; the state does not take responsibility forremoving DNA evidence from those who have been judged innocent.

Court Cases on DNA

Laws regarding DNA and the collection of genetic materials have been hotly contested over the past decade. Many believe that current state laws infringe on the Fourth Amendment and are tantamount to unreasonable search and seizure. Others have argued that DNA laws violate the Fifth Amendment, with the obligation to provide DNA evidence acting as witness against the accused him or herself. To date, many major cases involving DNA are still being addressed by the Supreme Court. Here are just a few that may shape federal and state law over the coming years or that have already impacted DNA privacy, criminal law, and genetic policy nationwide.

• Maryland v. King: This case is currently under review by the Supreme Court after the justices agreed it to hear it late last year. Previously, Maryland’s top court ruled that taking DNA from individuals arrested, but not convicted, for a serious crime was a breach of the Fourth Amendment right against unreasonable search and seizure. If this decision is upheld, laws in 21 states and federal law enforcement practices could be impacted, and in the future, law enforcement officials would be required to procure a warrant prior to obtaining DNA evidence from suspects in a case.
• Bearder v. State of Minnesota: The Minnesota Supreme Court found the state’s own department of health in violation of the law for failing to dispose of blood samples routinely used to screen newborns for serious illnesses. In some cases, the samples were used to validate new genetic tests, a clear violation of the state’s Genetic Privacy Act.
• Washington University School of Medicine v. Catalona: In 2008, the Supreme Court ruled that tissue and serum samples donated to the school could continue to be used for cancer research and that donors could not require that the samples be transferred elsewhere, as former Washington University surgeon William Catalona had argued. This is significant for DNA privacy, as it acknowledges that once samples are donated that they become the property of the institution, not the donor.
• Kohler v. Englade: DNA dragnets faced a major legal challenge with this Louisiana case. In 2003, Shannon Kohler was asked to submit a DNA sample by Baton Rouge police. His refusal led to him being named as the primary suspect in a serial rape and murder case. Kohler eventually provided DNA and was cleared of the charges, but alleged that the police didn’t have probable cause to compel him to give up his DNA. The Circuit Court of Appeals agreed, saying that the probable cause provided by law enforcement was so broad that it would have encompassed thousands in the Baton Rouge area. This decision helped to toughen the circumstances under which a warrant for DNA evidence could be granted, at least in the state of Louisiana.
• District Attorney’s Office v. Osborne: Oddly enough, while the courts have largely upheld the right of law enforcement to compel those who have been arrested or convicted of a crime to give DNA, once individuals are convicted of a crime, they do not have a constitutional right to their own DNA evidence nor that collected from the crime scene. In older cases, this means that DNA evidence cannot be reanalyzed using better, more accurate methods; a practice that has already exonerated many behind bars. According to the Supreme Court ruling in 2009, individuals do not have the right to post-conviction access to State’s evidence for DNA testing, making it impossible to exonerate those who may have been convicted falsely. Luckily, while the federal government does not mandate this, many states do allow for post-conviction DNA analysis.

This is hardly a complete list of all the major cases involving DNA testing and genetic privacy. For a great history on the subject, read a breif summary of major cases from Rhode Island College. For more information about major court cases on DNA around the world as well as some older cases here at home, check out the Electronic Privacy Information Center’s collection of important cases that have impacted genetic privacy all over the world.

When Your Genetic Privacy Is at Risk

While much of DNA law has to do with those who’ve committed a crime or been accused of committing a crime, the reality is that your genetic privacy can be at risk even if you’re a law abiding citizen. There are a number of cases when your DNA can be collected, analyzed, or retained without your consent.

• DNA dragnets:You don’t have to be accused of a crime in some cases to have your DNA requested by law enforcement. DNA dragnets occur when law enforcement officials as hundreds, sometimes thousands, of (presumably) innocent people to give samples of their blood or saliva in the hopes that one will be connected to a crime. While individuals can refuse to give DNA, in some cases the courts have forced compliance and most who refuse have faced increased scrutiny as a suspect in a crime, despite the fact that many see the request as an invasion of privacy.DNA dragnets aren’t especially common in the U.S., but in other places, like the U.K. and Germany, they have become common practice. In one case, DNA was collected from 16,000 individuals. While dragnets have been helpful in identifying the perpetrators of several high profiles cases, some who’ve been forced to partake say the dragnets have had unexpected consequences and have petitioned to have their DNA returned after being cleared.
• Discarded DNA: Directly giving a sample isn’t the only way for law enforcement officers to get a sample of your DNA. If your saliva is transferred onto another object, which you then discard, that object can be legally collected and used to analyze your DNA. While this practice has been challenged, it has held up in court because law enforcement officials state that there can be no reasonable expectation of privacy with regard to items that have been discarded. Not worried that the police will come after your DNA? Be aware that stray DNA could also be accessed by others looking for genetic information, like family members or those seeking to establish paternity.
• Family member searches: Another occasion when an innocent person may have their DNA requested by law enforcement is when a member of your family is suspected to be guilty of a crime, but no DNA can be gathered from that person because he or she can’t be found. In these cases, sometimes close family members are asked to submit their DNA to look for matching elements. If you wish to aid law enforcement, make sure that your DNA sample will be destroyed after it is analyzed, not stored.
• Participation in studies: Currently, few states have laws that protect genetic data once it has been collected and analyzed for research. This means that genetic material can be reused in future studies, transferred between institutions, or disseminated without the permission of the original donor. This doesn’t mean that individuals shouldn’t participate in research, but they should find out in writing before the study what will be done with their genetic information. Studies have shownthat DNA data alone can easily be used to figure out an individual’s actual identity, a fact that could influence insurance and employment opportunities.
• Elective genetic testing: Many worried about genetic condition opt to have their DNA sequenced by a private company. This can be beneficial, but it does come with risks. Not all DNA testing facilities have airtight privacy policies and some may do little to ensure your information stays confidential. If you submit to testing from a service, you may also be opening yourself up to these records being obtained by insurance companies or other outside sources. Once those records are out there, it’s very hard to get them back.

How to Protect Your DNA

While it’s useful to know what laws protect your genetic information and when it’s at risk, it is perhaps more important to know what you can do to ensure that your genetic information is kept safe and confidential, unless you choose to share it, that is.

• Always know the privacy policies of genetic testing companies. Getting genetic testing done through a private company is increasingly common, as prices have plummeted and access to these companies has increased. While these businesses do provide an opportunity to learn more about your health, they also pose a risk to your privacy if you’re not careful. Before submitting any samples to a company, carefully examine their privacy policy to see what it says and check out the business through the Better Business Bureau and TRUSTe.
• Know your rights under the law. We’ve outlined the major legislation that protects your genetic privacy above, but it doesn’t hurt to do additional research as well. The better you know what your rights are under state and federal laws, the better you can protect your personal and private health information. For additional information on privacy as a patient, learn more about HIPPA, which while not DNA specific does ensure that knowledge of your health issues can’t be shared.
• Don’t freely give out health information. Unless you are protected under law, do not share your personal family history or genetic information with others. In some cases, like when applying for life or long-term care insurance, this information can be used to discriminate against you. While GINA and other laws may protect you, there is no guarantee that sharing your genetic information won’t result in discrimination, so it’s best to always keep it to yourself unless absolutely necessary.
• Keep records about your DNA in a secure location. If you opt for DNA testing of any kind, especially that which looks at your risk for certain conditions, make sure to keep these records in a secure location that can’t be accessed by others. While you hardly need to worry about thieves, you do want to keep anyone who may be snooping around your home from finding out private information about you.
• Ensure that any research studies you participate in will keep data confidential. Sometimes, those suffering from certain diseases will choose to participate in research studies that collect genetic data. This can be an incredibly beneficial way to make strides in understanding and treating these conditions and others like them, but it does compromise DNA privacy. While not everyone will care about this, those who do will want to ensure that any studies requesting this kind of information will keep it confidential and, in some cases, you may even want to request that genetic material not be retained after the study is complete.
• Ask questions. You don’t have to agree to take part in a study for genetic information to be gathered on you. That’s why you should ask your doctor or health care professional if certain medical procedures will require genetic testing and find out in advance what his, her, or the medical facility’s policy is on personal genetic information.
• Seek legal recourse. If you believe your genetic information has been compromised in a way that violates your personal privacy and the law, contact a lawyer who can help you address these issues. You can also file a complaint with federal and state agencies for certain violations as well.

Much of the legislation and public policy regarding genetic privacy is still in its early stages, but as technology evolves and genetic testing becomes increasingly more common, how genetic data is handled, who has access to it, and the privacy rights of individuals will become increasingly more important. If you haven’t considered the risks posed by unsecured DNA information before, now is the time to look into protecting yourself and ensuring that your information isn’t being used, shared, or stored in ways that put your privacy at risk. While you may never face a serious issue with regard to your genetic privacy, it never hurts to be cautious and know your rights.

For more information visit BackgroundCheck.org. 

Shakespeare painted the last of the York rulers of England as a murderous maniac who was rightly dispatched to hell by Henry Tudor in 1485. But the story of Richard III's skeleton supposedly dug up last year in a parking lot may top that of the Bard for pulling the wool over our eyes. Or it may be the luckiest archeological find since King Tut . . . . 

The last of the York dynasty was buried in Greyfriars, Leicester, but Britons are now talking about re-interring the bones believed to be Richard's in Westminster Cathedral with England's other beloved monarchs. In 2012, a writer from Edinburgh, Philippa Langley, was walking over a particular spot in the municipal parking lot when she got goosebumps and "absolutely knew I was walking on his grave." Langley helped fund an archeological excavation and on February 4, 2013, the University of Leicester confirmed that a skeleton found in the excavation was, "beyond reasonable doubt," that of Richard III, based on a combination of evidence from radiocarbon dating, comparison with contemporary reports of his slight frame, and a comparison of his mitochondrial DNA with two matrilineal descendants of Richard III's eldest sister, Anne of York. 

Hunches and Hunchbacks

According to a BBC article, “Richard III: The Twisted Bones that Reveal a King,” the skeleton had a “striking curvature” that could only be that of the hunchback king. But according to a Daily Beast article, “Unraveling King Richard III’s Secrets,” Shakespeare wrote a century after the fact and had a pro-Tudor, anti-York political agenda. “Portraits made after his defeat that show Richard with a hump- or at least uneven shoulders- are suspect as Tudor propaganda.” There is no historical evidence of Richard III having a “striking curvature” of the spine. Or even “uneven shoulders.”  There is no evidence beyond Shakespeare of his deformity. In fact, there is historical evidence to the contrary. The article, “Richard’s Comeback,” quotes the historian, Thomas More, as saying Richard III was of “bodily shape comely enough, onely (sic) of low stature.” The Countess of Desmond reported that, at a royal ball, Richard was the ‘“handsomest man in the room . . . except for his brother, Edward, and was very well made." 

Despite historical evidence, most articles that discuss remaining doubts about the case like, “Doubts Remain that the Leicester body is Richard III,” miss this point and take it as a historical fact that Richard III had scoliosis as does the skeleton that has been found in the parking lot.

What of historical depictions of Richard III’s face? “No portraits made during his lifetime have survived  and some later copies show signs of having been altered to make him appear more sinister” (“ Richard III: The Twisted Bones”). Nevertheless, a 3D scan of the skull was taken, and a 3D face created and painted. Ashdown –Hill is quoted as telling the BBC in the article, “Richard III Facial Reconstruction Reveals Slain King More than 500 Years After His Death,”that it “largely matched” the “prominent features” in posthumous representations of the king. The artist, Janine Aitken said her part was “interpretive not scientific.” At least it is a pleasant face. But is it Richard III’s face?

Jumping to Forensic Conclusions

And the skeleton includes 10 battle wounds showing Richard III “met a violent death…”eight to the head and two to the body—which they believe were inflicted at or around the time of death. Since he died in a battle, did not other soldiers meet untimely wounds in such a manner?

Not a few scientists are waiting for peer-reviewed results. But there are none. Instead of waiting for a boring academic conference, the sponsors at the Richard III Society chose to release the results via a Hollywood style press conference. 

What kind of DNA analysis was used? Mitochondrial DNA. According to Bryony Jones in his CNN article, “Body Found under Parking Lot is King Richard III, Scientists Prove,” “the mitochondrial DNA extracted from the bones was matched to Michael Ibsen, a Canadian cabinetmaker and direct descendant of Richard III’s sister, Anne of York, and a second distant relative who wishes to remain anonymous.” Well, end of story and close that book. Right? Not so fast. Some scientists believe that the testing done was not sufficient. Why?

Mitochondrial DNA has limitations. It does reflect the deepest ancestry [see The Seven Daughters of Eve by Bryan Sykes], but is also prone to contamination [under such circumstances]( Pappas). Especially when we are discussing skeletons reminiscent of Night of the Living Dead interred improperly for centuries in damp soil. Timothy Bestor, Professor of Genetics and Development at Columbia University Medical Center, is quoted in the NY Academy of Sciences article, “Skeletal Remains of King Richard III Reportedly Discovered,” as saying that the possible quality of the [mitochondrial] DNA [under the given circumstances] was one of his key reasons for skepticism. “’After 500 years or more in a wet environment like England’s, “‘the microbes are going to degrade the DNA. It’s just food to them, ‘” says Dr. Bestor.  And Pappas quotes Maria Avila, a computational biologist at the Center for GeoGenetics at the Natural History Museum as saying, “The DNA results presented today are too weak, as they stand, to support the claim that [the] DNA [sample] is actually from Richard III…more in depth DNA analysis summed to the archaeological and osteological [bone analysis] results would make a round story [She is requesting Autosomal DNA analysis akin to what was done with the hominin discovery of the Denisovans].”  And she wonders about contamination with the type of DNA testing that was done. Avila says that, “Before being convinced of ANY atDNA study, it should be explicit that all possible cautions were taken to avoid contamination” and … “ also warned that people could share mitochondrial DNA even if they share a family tree” ( Pappas). The article, “Doubts Remain that the Leicester Body is Richard III,” a Mark Thomas at University College London is quoted as saying that “people can have matching mitochondrial DNA by chance and not be related.”

And Bestor asserts there other reasons to be skeptical, even though “Richard Buckley, lead archeologist from the University of Leicester, asserts ‘“this is beyond reasonable doubt’” based on genetic and historical forensic evidence.” Bestor argues that beyond the high risk of sample contamination, there are three other “particularly complicating factors.”  Of course, it is often an overlooked fact that “the English aristocracy reproduced within a closed gene pool in order to preserve lineages. This inbreeding results in consanguinity” (“Skeletal Remains of King Richard III”).  Dr. Bestor is quoted as saying, “ You may have the same mitochondrial haplotype, but that does not guarantee a lineal descent from a given individual.” [ Mitochondrial DNA analysis is not the same as Y haplotype DNA analysis because it focuses on deeper ancestry whereas male haplotype DNA analysis is linked to more recent male lines ]. He also points out the possibility of adoption. [The possibility of an adoption or any type of non-paternity event increases as one delves back into the distant past of any family tree]:

Another confounding factor is that, in the 17-25 generations separating King Richard’s sister from her extant relatives, there is a fair chance that children of deceased parents’ may have been adopted by their parents’ siblings somewhere along the way. After all, medieval lives were short. Such adoptions may have been kept private and excluded from historical or genealogical records. 

Moreover, Bestor points out that the “genetic sequences and statistical data are yet to be released” but adds that the “historical evidence is quite compelling.” According to this article, forensic evidence of the bones (1455-1540)matches with the time that Richard III was to have died ( 1485). But didn’t many people die at this same time during the same battle with similar wounds?

Behind the Numbers:  Jim Bentley

Jim Bentley, DNA Frontiersman

(Part Three of a Series)

We interviewed  one of Chromosomal Labs Bode Technology’s senior staff members, Director of Sales and Marketing Jim Bentley, to get his perspective on industry changes over the past thirty-five-plus years.

Jim Bentley.

When did you first get interested in DNA?

JB: I’ll have to preface my answer with a few remarks on “the early days.” When I graduated from Arizona State University in the 1970s, DNA testing as we know it, was not really a field that was in existence. There was not a lot going on. The little work I did with chromosomes was using electron microscopy. I worked in the biochemistry department, however and performed hundreds of assays using poly-acrylamide gel electrophoresis, mainly for separation of proteins. This technique, although improved and streamlined remains in use today for DNA-STR separation. The field we’re in today where we can determine a person’s profile and compare it with others for forensics  for relationships, ancestry, missing persons, adoptions and the like, that technology hadn’t been developed yet. It wasn’t quite as easy as it is today.

Tell us more about the evolution of DNA testing.

JB: It basically began with blood groups and types. The first paternity test was done in a court case with Charlie Chaplin in the 1940s. He was excluded as the father, but the court said he could go ahead and pay child support anyway—probably, because he could afford it. Since that time, scientists started moving past groups and types into some other techniques. Human Leukocyte Testing (HLA), DQ-Alpha, and Restriction Enzyme STR testing (RFLP) are examples of the evolution of DNA testing.

The big breakthrough came when Dr. Alec Jeffreys at the University of Leicester discovered STR testing in England the late 1980s. He used STR profiling on the Colin Pitchfork case. Colin Pitchfork became the first criminal convicted on the basis of DNA evidence and as a result of a mass DNA screening operation. He was charged with raping and murdering two teenage girls. Since that time the forensic community has really refined the techniques to perform STR testing. They’ve made it simpler and more accurate. It’s really moved exponentially in the last twenty years. Today competent biologists and chemists can produce excellent results, every time.  Dr. Jeffreys has been knighted for his contributions.

So what got you involved?

JB:  I came out of college as a chemist, one interested in the medical field. I started out working in clinical chemistry and toxicology. The work we did with DNA was extremely limited and very costly. But I did stick with a career in clinical chemistry. Within four years after graduating from school I was managing a clinical laboratory in Houston, Texas called National Health Laboratories. It was a laboratory of about one hundred scientists and support staff. After mergers, acquisitions and such, that company remains as Lab Corp. (It performs more than 1 million tests on more than 370,000 specimens each day.)

What opportunities for professional growth did you have over the years?

JB: Through taking a lot of continuing education coursework, I became proficient and qualified as a general supervisor in clinical chemistry, toxicology, hematology, parasitology, microbiology, serology—everything except for tissue work like histology and cytology, which was done by certified medical experts in those specialties. My interests kept me in touch with the staff pathologists, however, as well as all the rest of the laboratory. Though my present-day field did not exist at the time I graduated, by staying current I was able to benefit from the changes and be part of an emerging valuable service provided not only to the medical community but also to the forensic one, and the general population at large.

What are some famous cases you’ve been involved with . . . that you can talk about?

JB:  Actually, that’s my problem. We’ve been involved in a number of high-profile cases, but we’re not allowed to talk about any of them. Most have been on the forensic side, serial killer trials in Arizona, also in California, some that made the news in Florida . . Texas . . .Georgia.

Were you involved in catching the Grim Sleeper?

JB:  Actually, that’s an ongoing case in Los Angeles we are familiar with, but we didn’t do the work on it, so we can talk about that one. The importance of the Grim Sleeper case has to do with familial testing and autosomal DNA. It was termed the Grim Sleeper case because there were a number of homicides that took place beginning in the mid-1980s, all with the same basic MO [modus operandi], and then the murderer went underground for fourteen years. The victims were typically prostitutes shot with a firearm. In 2010, a suspect, Lonnie David Franklin Jr., 57, was arrested and charged with multiple counts of murder. He has not yet been convicted, nor the evidence against him tested in court.

How was DNA used to catch him?

JB: So here were a number of cold cases, but they were being tracked, and the law enforcement authorities in Los Angeles continued to monitor progress. The sole survivor of one of the Grim Sleeper’s attacks furnished a description of him as a black man in his 30s, along with other details. According to her story in the press, he lured her into an orange Ford Pinto, shot her in the chest with a pistol, took Polaroid’s and raped her, leaving her for dead. In 2008, the body count was thirteen, and a $500,000 reward was put out for “America’s Most Wanted.”

It became the first use in California, and one of the first three cases in the United States, of the use of familial DNA searching, that is, using the FBI’s CODIS database to match one family member’s profile with a suspect’s profile. The LA police were able to provide a close partial match to  Franklin’s crime scene profile with that of his son, whose CODIS markers were on file for a minor crime. They then set up a kind of mini-sting operation at a pizza parlor in Buena Park, where they knew the family liked to eat. Undercover detectives masqueraded as waiters and busboys. When the family left, they whisked away an unfinished pizza slice. The crust yielded DNA which police linked on a more solid basis to Lonnie Franklin. It was the first high-profile case in which a family member’s DNA had been used to catch a criminal. The ACLU and others had been critical of familial searching on grounds of privacy, and there is still a lot of debate over familiar searching because it might open up the search and include those who hadn’t committed any crime.

Did this help produce new commercial products like the “cousin finders”?

Only a few states are doing familial searching, and they are pretty guarded about it. It’s hard for me to make a connection. Certainly, these developments have been concentrated in the past three or four years, but the use of this technique is spreading.

Are people legitimately suspicious about DNA databases?

JB: Fears surface from time to time. There have been claims that keep popping up that someone’s going to take everything that’s in the database and use it to determine genetic deficiencies that could lead to medical issues down the road. Once it was speculated that if such  information was released, insurance companies would begin denying people coverage based on their profiles.

This is the mother of conspiracy theories, isn’t it?

JB:  It really is. For the most part—not for everyone—the vast majority of the markers we are using are in the “junk DNA” area. That is, they don’t by themselves “do” anything or give you genetic information on the face of things. There may be one or two markers that possibly could be construed as yielding some medical information—such as a trisomy at vWA or TPOX [a CODIS locus]. But by and large, you are not going to be able to do any medical diagnostics with the markers we run. Usually trisomies such as Down’s syndrome would be physically expressed and not hidden. It’s a little different with SNP panels [single nucleotide polymorphisms] such as those run by 23&me. With a high number of those, it’s entirely possible to predict medical predisposition. That’s what they base their business on.

Let’s talk some more about the CODIS database.

JB:  It’s important to realize that even law enforcement doesn’t provide much access to the CODIS [Combined DNA Identification System] databank. That’s something I have to give the FBI credit for. They have developed a system that is secure. It’s the DNA administrator at each facility who has undergone FBI training and uploads the data under very strict rules, and they are notified of any “hits” that involve them, but otherwise there is very little access, and the use of the database is very even across the country. There are not a large number of portals that can be used to access the CODIS database. There are several hundred law enforcement laboratories that are running profiles across the country, and the database is best thought about on three different levels:  LDIS, SDIS and NDIS, local, state and national versions. Between our labs in Phoenix and Virginia, we’ve tested over a million profiles for entry into CODIS. That’s about one-tenth of the entire number. I can tell you there is tight security. Hundreds of thousands of investigations have been aided by a DNA hit (we don’t like to say “match” so much, because statistically nothing is 100%) generating a lead.

How did you get bitten by the genealogy bug?

JB: I’ve always been fascinated with ancestry. I think it came about because my father took an interest in discovering our family’s roots and had to do so at the time by traveling to Salt Lake City, Utah, and poring over whatever records he could find there about our fathers, and great-grandfathers, and great-great-grandfathers, and so forth. He had tintypes of some of the relatives. We had various pieces of the puzzle. My father pretty much consolidated everything back to William Bentley, who settled in Rhode Island in the early 1700s and had come from Bedfordshire, England. He put together a book for family use. He glorified a few of them and left a few out that weren’t ready for glorification. For the sensitivity of some of the relatives, he left a few details out, but it was a pretty solid piece of work. For me, it kind of fostered this interest in ancestry and its importance. Certainly, when I started at Chromosomal Labs • Bode Technology, we started looking at the various tools that could be used. Our history, to be sure, is passed down from generation to generation. Initially, we were using mitochondrial DNA, Y-SNP’s and Y-STRs and then autosomal STRs to determine how we’re connected to general and specific individuals back to the Revolutionary War days and how you are linked with the world population, what your roots were. I have a particular Y haplogroup of G2a, which is not one of the more common ones.

Hmm . . . you and Joseph Stalin.

JB:  [Laughs]. Is that what his haplogroup was? Uh-oh! He was one of the worst. Well, I got interested in G2a and hooked up with about 50 other Bentleys and we identified our founder  patriarch haplotype. I get emails from them on a regular basis. The other thing we tried to find out was what in the world were all these G2a’s doing in England. I don’t know. But one of the things I find in the literature most often was that the Sarmatians were horsemen that gave the Romans a pretty rough time. Eventually, they were decimated. The Romans took their remaining cavalry and pressed them into service for 12 to 13 years or longer. Some were dispatched to Hadrian’s Wall. Now do I know for a hundred percent certainty that’s where I came from? No, but its fun to regard that as a hypothetical personal history.

You have a Scythian gene, don’t you?

JB:  Yes, I do according to the analysis DNA Consultants did for my autosomal ancestry. The work Dr. Yates has done on the rare alleles supports a lot of the stuff the family has been putting together for years and years.  I was very pleased to get my Rare Genes from History report back showing I had the Scythian gene. That seems to go along with the Sarmatian theory about the Bentleys.

How do you see the industry changing over the next few years?

JB:  I can speak best about changes I am seeing in the field. They’re getting closer to having rapid DNA testing on a chip. This gives flexibility to those who want to use DNA as “point of use” testing. The FBI this past year came out at the Promega conference and said that within the next two years they would like to see wide adoption of “point of use” testing. The IntegenX prototype allows you to put your swab into a cartridge, insert it into the instrument on the fly and get your STR results in a few hours. Previously, Rapid DNA testing was not only time-consuming and lab-bound but it was very expensive. It cost several hundred dollars in reagents alone. As the technology improves to allow 2 hour testing in our lab or on a chip, reagent and personnel time continue to drop,  Now, the FBI would like to see point of use testing in every booking station in the country. At the last show, I also saw an instrument from Illumina that would run Y-STRs, mtDNA and autosomal DNA profiles simultaneously on one sample. Another change that is coming is we will see an expanded profile becoming the standard, perhaps something similar to the GlobalFiler kit from Life Technologies with its 24 loci. With the new technology you can increase the speed for amplifying the specimen by five times and achieve nine times the discriminating power or resolution.

Any final remarks?

JB: The DNA testing field is on the threshold of even greater accolades of appreciation both from the scientific community and the public. If DNA wasn’t even in anyone’s mind twenty years ago, soon it will be part of everyone’s daily lives.

 
























Sir Alec Jeffreys, inventor of DNA fingerprinting, and Jim Bentley at forensics meeting.

DNA, not Gothic literature, has all the best stories and tales of murder and intrigue. According to Sam Kean, author of The Violinist’s Thumb: And other Lost Tales of Love, War, and Genius as Told by Our Genetic Code, “ …Somewhere in the tangle of strands are the answers to many historical mysteries about human beings that were once thought lost forever.”  Kean says each one of us has”… enough DNA to stretch from Pluto to the sun and back,” and “…every human activity leaves a forensic trace in our DNA” and the story that DNA tells, Keans says, “…is a larger and more intricate tale of the rise of human beings on Earth: why we’re one of nature’s most absurd creatures, as well as its crowning glory.” We just have to know how to read the story and solve the mystery. Like the one about the French Revolution and King Louis XVI.

Victor Hugo’s classic novel about the French Revolution, Les Miserables, has been given a facelift for a modern audience to ponder over popcorn in the theater.  Or discuss at a local café or bookstore over cappuccino. But few of us would imagine that scientists have had any interest in the French Revolution. We would be wrong if we did, and it is a gruesome tale of the intersection of science and history in this case.

Phillipe Charlier, a forensic scientist, dubbed the “’ Indiana Jones of the Graveyards, ‘“according to the recent Abroad in the Yard article, “DNA Analysis Links Blood of Louis XVI, Beheaded in French Revolution, and Mummified Head of His Ancestor Henri IV,” by Tom Martin Scroft, has linked blood stains in a decorated squash gourd to the mummified head of King Henry IV. There was once a handkerchief, according to the article, that had been “in the possession of an Italian family for over a century” in an “ornate calabash gourd” that had been “dipped in the [beheaded] blood of King Louis XVI” by a Maximilien Bourdalou.mAccording to an earlier Discovery News article by Jennifer Viegas, “Royal Blood May Be Hidden inside Decorated Gourd,” the handkerchief “is now missing.” Most certainly it has “decomposed” by now as David Blair suggests in his recent article, “Louis XVI Blood Mystery Solved.”  Viegas also says the ornately decorated gourd was “dated to 1793” and that the dried squash reads, “Maximilien  Bourdaloue on January 21^st, dipped his handkerchief in the blood of Louis XVI after his beheading.” Why he would have done such a thing?  For a bloody relic no doubt.  What  a coffee table conversation piece. Viegas quotes Carles Lalueza Fox, “lead author of the study and a researcher at Spain’s Institute of Evolutionary Biology,” as saying that the act was common: “In fact, many people went there to dip their handkerchiefs in the blood.” How gruesome. But linking blood found in the Italian family’s gourd to King Louis XVI?  It took DNA analysis to validate that tale.

How was that done? In careful steps. First, according to Fox (qtd by Viegas) her team had to identify the “brownish substance” inside the squash as “dried blood.” Later, Fox remembered that the King had “blue eyes” and he identified the genetic marker for the “blue eyes mutation.” But that is a long way off from identifying it as the blood of King Louis XVI. The researchers also analyzed its mitochondrial profile and its Y-Chromosome profile and they found the “’DNA profile [before they had a match]…was rare among Eurasians’” which “suggest[ed] that it [might] derive from a royal bloodline.” But Fox knew that they had to have “ ‘someone’” for comparison. They first thought of the “[pickled]heart located in a royal French crypt thought to belong to the King’s son, Louis XVII.”  It is beginning to sound like a tale from Edgar Allen Poe.

But they didn’t use the heart after all. They discovered the mummified head of King Henri IV, who ruled France from 1589 until 1610, which had been “shuffled between private collections ever since it disappeared during the French Revolution,” according to Marie Cheng’s AP article, “Scientists ID Head of France’s King Henry IV.” (According to the article, “Henry IV was buried in the Basilica of Saint Denis near Paris, but during the frenzy of the French Revolution, the royal graves were dug up and revolutionaries chopped off Henry’s head which was then snatched.”) I don’t suppose the head was in such great condition after all this shuffling about, but it still turned out to be useful. 

With that mummified head, DNA analysis has “solved a mystery that has lasted for almost 220 years,” according to Blair. He quotes a new study in the current issue of Forensic Science International as saying that the comparative analysis with the mummified head of King Henri IV confirms the connection by “…establish[ing] that Henri possessed a rare partial “’Y’” chromosome” and Louis, a “direct male-line descendant, separated by seven generations,” [had] this same Y chromosome. Along with “other [genetic] matches,” the study concluded that “…historically speaking, this forensic DNA data would confirm the identity of the previous Louis XVI sample.”

And you thought scientists were boring. Another DNA mystery solved.

Authentic sequences from the ancient human past are a rarity in the world of DNA testing. But when a team of archeologists put the mummies of King Tut and his immediate family on the operating table in 2010, they were successful in deriving almost complete DNA profiles for the boy king and others in the Amarna dynasty that ruled Egypt more than three thousand years ago. Now three of the DNA signatures of Egyptian pharoahs from that famous forensic study by Zahi Hawass and the Supreme Council of Antiquities in Cairo--plus others newly discovered--are available as part of a commercial direct-to-the-consumer autosomal DNA testing panel.

In October 2012, DNA Consultants launched its Rare Genes from History Report. Based on a customer's DNA fingerprint or autosomal profile, the additional analysis sells for $289. It compares your laboratory results with 26 rare alleles or ancestry markers whose trail has been traced through world history and evolving population changes by the company's statisticians. 

Take the Thuya Gene, for instance. Like most of the other Rare Genes from History, it has an African origin in deep time. But it experienced its greatest expansion in ancient Egypt, where it was carried by the queens of Upper and Lower Egypt and High Priestesses of the temples. It was reported in the profile of Queen Thuya's mummy, and we can see that she passed it to her children, grandchildren and descendants. King Tut was a great-grandson and has it, according to the new forensic evidence.

Today, as many as one-fourth of all people on earth would test positive for the Thuya Gene. It is twice as common in Somalia as outside Africa and is found in 40% of Muslim Egyptians.

That's not so rare after all, but unsurprising. Egyptian civilization lasted for three thousand years and sowed the seed of its peoples and ideas throughout the world. We can imagine that Autosomal Thuya started out in East Africa about 100,000 years ago, and that her descendants were prominent in the first out-of-Africa group as well as in the Middle Easterners who helped spread agriculture, animal husbandry, religion and settled town life to Europe. 

The spirit of Thuya lives on in 27% of Jews who have been tested in academic studies. Extrapolating to world population figures, that's nearly 400,000 people, about evenly divided between the United States and Israel.

See also "Prelaunch of New Autosomal Products" (August 26, 2012)
"Rare Genes from History" (webpage)
"Rare Genes from History Panel Now Available for $289.00"

The classic DNA study by the Supreme Council of Antiquities in Cairo, Egypt is: Hawass Z, Gad YZ, Ismail S, et al. Ancestry and Pathology in King Tutankhamun's Family. JAMA. 2010;303(7):638-647. The feat by scientists has also been featured on Discovery Channel. 

Every year in the United States about half a million paternity cases are performed proving or disproving whether an alleged father is the true parent of a child. Sometimes there is a court order to do this; at other times, it is sheerly for personal information. The determination of parentage is made based on a simple comparison of a small rock-hard number of genetic markers in the DNA fingerprint of the child and alleged father. Samples are extracted from a 30-second cheek swab and processed at any of an estimated 2,000 forensic labs across the country. The standard in place since about 1997 has been a set of 30-32 biallelic or double values each person carries on loci spread across their chromosomes, making for a virtually unique identification signature that reflects the equal DNA input of mother and father (and in fact all grandparents and all ancestors).

Often termed CODIS markers (standing for Combined DNA Identification System), these alleles or variations are the magic numbers underlying the popularity of paternity tests as well as the national passion for jailing or exonerating crime suspects. If a value is found in the DNA profile of the child and is not present in the two observed values of the alleged father on the same locus, this constitutes what is known in the paternity business as an exclusion:  the alleged father is almost certainly not the true father. Conversely, if all the alleged father’s values can be detected in the child’s on each location, one after another, that male is judged to be the child’s biological father to a 99.999% certainty. Paternity tests are simple math.

A famous paternity test involved proving who was the true father of the baby born to Anna Nicole Smith in 2006. After her death in early 2007, several men came forward claiming to be in father, including a European prince, Anna Nicole’s bodyguard and a convict who had been a former boyfriend. Larry Birkhead pressed his case. When the results came in, he was declared by Bahamian court to be the baby’s biological father. The child’s original birth certificate was amended to show this.

Can paternity testing be used in a reverse process to establish the identity of a father, given only the child’s DNA profile? No, but with enough DNA profiles available for comparison the missing member of a family group can be reconstructed by comparing alleles they must share, called obligate.  Doing so is a matter of logic and statistics, mostly just either-or, deductive logic.

I became interested in reconstructing a parent’s profile after many of DNA Consultants’ customers inquired if such a calculation or estimate was even possible. Some were adopted persons who had no recourse to testing their parents, some knew one parent but not the other, and some had no access to parents. They were either uninterested or unavailable. In a special category were females who were only-children with both parents deceased who wanted to know something about their father, but who could not take a Y-chromosome haplotyping test, as they did not carry a copy of their father’s male DNA. In this respect, autosomal DNA testing is the great equalizer.

My father, Lawden Henry Yates, died in 1978. My mother, Bessie Cooper Yates, lived to the advent of DNA tests, but I failed to obtain any sample from her before her death in 2006. I had siblings and half-siblings still living, however, so in 2010, I constructed a family group autosomal DNA study with the help of Crystal Wagner at Chromosomal Laboratories/Bode Technology. The results were very satisfying. This paper and blog post will serve as a report to those who are interested.

Step One
I was fortunate to have the participation of three half-sisters by my father, along with his second wife, their mother. Comparing mother and daughters I was able to verify the obligate alleles each daughter must have received from the mother.

Autosomal alleles are fixed in our genealogy, have little or no mutations (unlike YSTRs, which mutate from generation to generation, as do mitochondrial nucleotide positions, though more gradually over time)[*] and derive from both parents equally by recombination at the moment of conception. They are copied and preserved without change in every cell of our bodies. The mother is responsible for half of the equation.  By a process of elimination the other number on each row of the lab report must represent the father’s contributions.  This method is completely logical and unequivocal. There can be no other answer to the problem. No studies suggest these pieces of our double helix DNA change significantly in transmission from one generation to the next or mutate over time in genealogies. Their values and patterns are strictly attributable to heredity.

Step Two
The father’s alleles are confirmed by a comparison with three children by his first wife, my mother.  

Step Three
By the same watertight process we can now proceed to the mother’s reconstructed DNA profile. In it, we can expect to visualize the final piece of the puzzle, proceeding from the known to the unknown according to the immutable laws of autosomal DNA and genetic inheritance.

We have arrived at my mother Bessie Yates’ DNA profile by a multi-step process of extrapolating it using three of her children and three children by her husband’s second marriage, along with the test results of my half-sisters’ mother. Seven tested profiles yielded two reconstructed ones. In the process we have also recovered my deceased father’s DNA profile.

Separating Mother and Father’s Contributions to Ancestry
Having overcome these hurtles, I was most interested in the utility of the results. I felt confidant about the method. But what excited me most was to see how my own autosomal ancestry results might be respectively apportioned in my parents. For this, I ran a DNA Fingerprint Plus on them both. The findings were very satisfying to me personally, helping solve many questions I had always had about what ancestry I got from my father, what from my mother and what from both.

Let’s start with American Indian admixture. My own DNA Fingerprint Test, as well as percentage tests through another company, suggested a relatively large amount, perhaps one-quarter all told by various measures, but family tradition had placed Native American heritage solely on my mother’s side. To be sure, my mother gave me a Native American mitochondrial haplotype, indicating a female line going back to a Cherokee woman in Georgia, traced as far back in records as 1790. Extensive genealogy research showed, however, that my father’s great-grandmother was also a Cherokee with the surname Thomas from North Carolina. What did the new autosomal DNA profiles say?

On a rough measure, I have received a “double dose” of Native American II, a marker co-relating with 80% of 24 tested American Indian populations in the atDNA 4.0 database. (Two siblings and one half-sibling received only single doses.) This seemed to indicate that I had some degree Native American (not possible to say how much) from both parents. True enough apparently, judging from the top world matches for my mother and father. I give here the top ten for comparison.

These results confirmed that my father did have some Native American, although evidently not as much. They also suggested that although both bore about the same mixture of European and Native American ancestry (including high matches to Melungeon), my mother had a more pronounced Native American cast, her highest match being to North Asian, one of the supposed Asiatic feeder populations of Native Americans, whereas my father’s top match was European American. Based on profile frequencies, my father was five times more likely to be European American than American Indian if subjected to forensic profiling, whereas my mother was 18 times more likely to come out as a Siberian Native than Northern European. Sometimes, it seems, exotic ancestry rises to the top. My overall conclusion was that my mother probably had 3/8 and my father 1/8 Native American heritage, which corresponds to their proved genealogies.

In my own profile, combining those of my parents, here are my megapopulation results:

Self (Donald N. Yates)

According to these frequencies, my mother and father’s Native American ancestry reinforced each other in me to make my top four matches Native American (or Siberian-Mongol-Turkic), so that I am about twice as likely to be graded into the Native American category by population statistics than the European. Similar conclusions emerged from my siblings’ tests, and a diminished presence of Native American indicators was confirmed in my half-siblings, although their mother seemed to evince some Native American as well as my father, the shared parent. All participants in this study had grandparents born in North Alabama.

Further observations are possible. For instance, I was surprised to see a large indication of Jewish ancestry in my father’s profile. Genealogy confirms as much, as the family surname is Hebrew (an anagram of Ger Tzedek similar to Katz, Kohen Tzedek). The emigrant Yates figure was reportedly an English Jew in seventeenth-century Virginia. My mother also showed Jewish ancestry. Both parents matched Melungeons, an Appalachian ethnic type suspected to have Sephardic Jewish forebears. My father’s family included uncles named Josephus, Manaen, Irbin, Azariah, Lazarus and Sherith—apparently his Middle Eastern matches were truthful to a partial Muslim background. My mother’s mother was named Palestine, and the names Isaac and Jacob were ubiquitous in her family tree. But neither side of the family claimed any Jewish heritage. It was left to autosomal DNA to reveal that hidden inheritance.

Although never performed before to my knowledge, this method of reconstructing autosomal profiles can be useful to others seeking to recover unavailable relatives’ genetic fingerprints and to separate parents’ contributions to their children’s ethnic and ancestral stories. Since it is based on immutable markers in DNA it rests on more solid ground than Y chromosome alleles or mitochondrial mutations. The challenge in exploiting the method is to have enough subjects in your family group study. In my case, I was fortunate to have a prolific father with six living children. I would like to conclude by thanking all my siblings, half-sisters and my father’s widow. Their participation made it possible to present a true first in DNA genealogy.

Read the working paper
A Method of Reconstructing Parentage and Ancestry by Autosomal DNA Profiles

Go to Learn about DNA

Lorton, VA – February 13, 2012 – Bode Technology (Bode), a leading provider of forensic DNA services, announced today the acquisition of Chromosomal Laboratories, Inc., a leading provider of DNA testing for immigration and private paternity.

By adding this expertise to its portfolio of service offerings, Bode will utilize its vast international and domestic presence to provide best inclass immigration paternity and private paternity testing to clients worldwide. Bode is a whollyowned subsidiary of SolutionPoint International, Inc.

“Chromosomal Laboratories has established an excellent reputation through its focus on clientservice, fast turnaround and high quality,” said Barry Watson, CEO & President of Bode. “Their focus on immigration and paternity testing complements Bode’s strengths in forensic casework and databasing, and enables us to expand our domestic and international offerings. With the increased use of DNA for immigration purposes and recent changes in the marketplace, we see opportunities for significant growth.”

“Having admired and respected Bode Technology as a competitor in forensics for years, I am extremely excited and proud that Chromosomal has this opportunity to join their team,” said Vladimir Bolin, CEO and co-founder of Chromosomal Laboratories, Inc. “The ethics, vision,resources and leadership of the Bode team is beyond reproach, and sets a solid foundation for Chromosomal’s technical and market leadership in the coming years.”

Chromosomal Laboratories, founded in 2004, maintains AABB accreditation for relationship testing activities and ISO 17025 accreditation in forensics. It provides relationship and forensic services both in the United States and internationally. Operating out of its state-of-the-art facility in Phoenix, AZ, Chromosomal Laboratories has provided services for samples from every state in the United States and approximately one hundred countries.

DNA Analysis from Fingerprints

Fingerprints are routinely used in crime scene investigations to characterize individuals associated with forensic evidence. However, fingerprints are sometimes smeared or incomplete and cannot be interpreted or used for further analysis. The use of mtDNA for the identification of fingerprints would be valuable in forensic investigations. The research department at The Bode Technology Group has developed a method to obtain mtDNA from processed fingerprints on both non-porous and porous substrates.

The research department at The Bode Technology Group is currently developing methods to obtain STRs from processed latent fingerprints. Many of the same substrates and chemical processes used for mtDNA recovery will be tested for STRs. Updates on our research will be posted periodically on the company's website.