DNA Consultants Home of the DNA Fingerprint

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. 

We are our DNA. It was not a surprise to find that our entire DNA is Functional (“Junk DNA Isn’t Junk, and That Isn’t Really News”). The surprise is in the discovery of what we can do with what we once thought was junk. According to that recent NPR article, “It is a massive control panel that regulates the activity of our genes.” Our genes “would not work” without it. So instead of being junk- they are critical and “control how cells, organs, and other tissues behave.” But we can also now read the markers and mutations on this “panel” and discover much more information than knowing it is just working efficiently for our body. This knowledge is considered a “major medical and scientific breakthrough” (Ibid.). We just have to read it well.

But first, what is DNA exactly? John Wilwol, in his recent NPR article, “A ‘Thumb’ on the Pulse of What Makes Us Human,” quotes Sam Kean, author of the book, The Violinist’s Thumb And Other Lost Tales of Love, War, and Genius, As Written by Our Genetic Code, as saying that DNA is what makes us who we are. Wilwol further quotes Kean to help us understand what DNA is and how it differentiates from genes: “ ‘While DNA is a thing- a chemical that sticks to your fingers, he writes, genes are more conceptual in nature, …“‘like a story with DNA as the language the story is written in.”

So if DNA is a language how are we able to read it? All parts of our genetic code are now readable and meaningful. Marker locations (loci) are spread across one’s entire genome, not confined to one’s male (Y chromosome) or female (mitochondrial) DNA. (This is how sex-linked, haplotype tests that follow one line at a time are analyzed). Different mutations are handed down genetically – different according to the region where one’s ancestors lived.

Because of this new ability to read markers, consumers are now able to buy Autosomal DNA tests that provide a complete analysis of where all one’s ancestors’ ethno-geographic origins – reflecting the entire spectrum of all ancestral lines. Not just one line at a time as in haplotype testing. This is next generation ancestry DNA testing and the wave of the future. Anyone can take an Autosomal DNA test because it does not rely on X or Y chromosomes (women are unable to take the Male Y- linked test and must entice a male in her line, if one is available, to take this test). The future is now in many ways.

What else can you learn from Autosomal DNA testing? Anne Tergesen, in a recent article in the Wall Street Journal,” quotes Megan Molenyak, author of, Hey America, Your Roots Are Showing, as saying that this relatively new test deciphers the amount of DNA shared between those whose common ancestors lived within the last half-dozen or so generations. Tergersen explains it like this, “Y-DNA and mitochondrial DNA can connect people whose common ancestors lived recently or hundreds of years ago. But to find out how closely you are related—and to locate relatives besides those on your direct maternal or paternal lines—you will need an autosomal DNA test.” (Of course, you would both need one to compare) and “in general, the more DNA two people share, the closer their connection”.

But there are even more things on the horizon with Autosomal DNA for the future. Personalized Medicine. According to a recent Smithsonian article, “Fetal Genome Sequenced Without Help From Daddy,” “A fetus’ entire genome can now be sequenced” from the mother alone with a “99.8% accuracy.” How is that possible? It was just “last month clinicians announced that they could sequence a fetus’ entire genome by taking samples from the pregnant mother’s blood and that of the father to be” (“Fetal Genome”). Now they have a “more difficult, but more complete method [that] uses DNA from the pregnant woman and the fetus to map out every last letter of the fetal genome…with the advantage that it can pick up mutations that a fetus has but its parents do not” (Ibid.).  Rob Stein quotes Dr. Alan Guttmacher, director of the National Institute for the Child Health and Human Development in a recent NPR article, “Genome Sequencing For Babies Brings Knowledge and Conflicts,” as saying, “Instead of screening for currently something like 30 conditions, it would allow you to screen for hundreds if not thousands, [of conditions] at birth.  He goes on to say that, “One could imagine a day where knowing someone’s entire genome sequence at birth, you could really begin to think about structuring health care, their dietary choices, their exercise choices…early in life, in a way that would have an impact on truly lifelong health.” Stein says that this gene sequencing could “spot babies that are prone to conditions such as obesity, diabetes, heart attacks or cancer” and that we may soon be “sequencing all babies when they’re born.”  It could be a wonderful tool. But we are not there yet.

According to Rob Stein in another recent NPR article, “Perfection is Skin Deep: Everyone has Flawed Genes,” Scientists have determined we are all more flawed than they thought. “Researchers discovered that normal, healthy people are walking around with a surprisingly large number of mutations in their genes.” Chris Tyler-Smith of the Wellcome Trust Sanger Institute in Cambridge, England and his colleagues analyzed the DNA of 179 people from several countries who volunteered their genetic information to the 1,000 Genomes Project.

In a published paper in the American Journal of Human Genetics, the researchers reported that though none of the people whose DNA was studied were sick, the average person has about 400 minor flaws and one or two that could contribute to disease. Tyler-Smith says, “It’s a bit surprising that people should be walking around apparently healthy yet we’re seeing known disease-causing mutations in their genomes,” he says. “But the answer was that these tended to be for mild and very often late-onset conditions. Things like heart disease, an increased risk of disease or developing cancer. On its website, the American Diabetes Association highlights the interaction of genetic and environmental factors: “You inherit a predisposition to the disease then something in your environment triggers it. Genes alone are not enough.”

So the problem is not so much with the analytical tool but rather the possibility of over- interpretation. Again, we just have to read it well, with the same critical eye for what is written in us as that which is written by us. And who knows what else we will soon be able to discover from reading our DNA?

New Center is Hiring

The University of North Carolina at Chapel Hill dedicated its new Genome Sciences Building on University Day, Oct. 12, 2012, a major event in the increasingly interdisciplinary world of genome science. Located at the geographical center of campus, the Genome Sciences Building has an overarching goal: to foster collaborations at the intersection of different disciplines – and in every way, it is designed to do just that, according to the university.

“Proximity is really important in a busy world,” says Jeff Dangl, Howard Hughes Medical Institute investigator and John N. Couch Professor of Biology. “The explicit concept of this building is let’s hire new people at the interface of all of our traditional disciplines. Let’s give them a home – or at least a foothold – here in this building and see what comes of it in terms of generating new synergistic science.”

Symbolically, the building's footprint lies on the border between the College of Arts and Sciences and the five health affairs schools, where basic research meets clinical applications. Researchers from departments as diverse as biology, chemistry, computer science and statistics have opportunities to interact with each other in the building and are very closely located to colleagues in the schools of medicine, pharmacy, nursing, dentistry, public health, and information and library science.

DNA Consultants' founder and chief research officer, Donald Yates, has a Ph.D. from the University of North Carolina at Chapel Hill. We applaud the new center's interdisciplinary mission and bridging of sciences including the campus' traditional strengths in statistics, computer and library science.

In 2012, UNC rose to 9th in the nation for federal funding devoted to research and development. The current level of $546 million during fiscal 2010 is spread among all fields and puts the university fourth among public campuses in the country. 

One of the projects supported by such research was the Cancer Genome Atlas program led by Carolina's Charles Perou, professor of molecular oncology. Perou's team published their work in the journal Nature and opened the way to personalized treatment of breast cancer, as widely reported in the media, including the front page of the New York Times. 

Behind the Numbers:  Elizabeth Hirschman

  (Part Two of a Series)

We interviewed Rutgers marketing professor Elizabeth Caldwell Hirschman, author of several books and articles incorporating DNA in her research, to hear her personal story in our continuing series about the people behind the scenes in the field of DNA testing.

Elizabeth Hirschman with MBA students at Rutgers in December 2009.

When did you first get interested in DNA?

ECH: I got interested in DNA testing around 2000 when I discovered I was Melungeon after reading Brent Kennedy's 1994 book. Brent suggested several different ancestries that possibly contributed to the Melungeon population and I wanted to find out which of these were correct and which ones I had. I already suspected Jewish ancestry because of the naming patterns in my family over the past 300 years, as well as some of their habits --e.g., not eating pork, getting married in a home instead of a church, cleaning house on Friday afternoon, no eggs with blood spots, washing all meat, etc. We also had some genetic anomalies -- shovel teeth (sinodonty), palatal tori and large rear cranial extensions, as well as polydactylism.

Tell us more.

ECH:  Over the course of the past decade I have been found to have Native American, Spanish, Ashkenazi Jewish, African, Mediterranean and Gypsy/Northwestern India ancestry. My Dad turned out to have substantial Gypsy and African ancestry. He and I share a large cranial rear extension that I believe likely comes from the African ancestry -- the photos I have seen of the !Kung Bushmen look just like our head shapes. My Mom has Native American and/or Sino-Siberian ancestry. She also possessed the Asian teeth and palatal tori found in this group.

You've written several books and articles with Donald Yates; how did that come about?

ECH:  We shared ancestry from the Coopers, a prominent pioneer family in Daniel Boone’s time. In 2000, I wrote him out of the blue when he was a professor in Georgia and introduced myself and asked if possibly the Coopers were Jewish. We began to correspond by email. I told him I was sure one of the reasons I was working so hard to figure out the Melungeon story was because I had to figure out who I am. “Up until last year,”  I remember telling him, “I thought I was Scotch-Irish, English , white and Presbyterian.” It was a big transition to Sephardic, brown and Jewish. It turned out that we were distant cousins and had numerous links in our Melungeon ancestry.

What was a typical publication?

ECH: One article was called “Suddenly Melungeon! Reconstructing Consumer Identity Across the Color Line.” This was published by Routledge in 2007 in a handbook on consumer culture theory edited by Russell Belk.  

How did the Jewish findings play out?

ECH:  On a personal level, both Don and I, as well as his wife Teresa, returned to Judaism, he and Teresa in Savannah and I in New Jersey. On a professional level, we started the Melungeon Surname DNA Project, which focused on Scottish clan and Melungeon surnames (i.e., male or Y chromosome lines), and later included Native American mitochondrial DNA.  Initially, many people in the genetic genealogy community were frustrated that the incoming Jewish DNA results were not originating in the Middle East, as they had strongly believed and hoped, but were showing a lot of Khazar, Central Asian, Eastern European and Western European/Spanish/French input.

Can you elaborate?

ECH:  Critics were not happy that DNA was proving a wider and more inclusive picture of the Jewish people. Where Don and I have performed a service, I believe, is by just following the DNA trail and accepting new findings (e.g., the Gypsy/Roma) when they come in, instead of clinging to an a priori theory/belief/wish, for instance, the claim of a Middle Eastern origin for the majority of Jews.

What tests have you ordered from DNA Consultants?

ECH: I ordered every test as they became available over the years, first the Y chromosome and mitochondrial or male-line and female-line tests and later the autosomal or DNA fingerprint tests that analyze your total ancestry.  I helped organize the first autosomal Melungeon study by contributing samples from my mother and brother and obtaining samples from well-known Melungeons like Brent Kennedy and his brother Richard. Increasingly, our testing took on the aspect of a family group study. For instance, I was able by comparing multiple results from relatives to reconstruct my father’s ancestry quite satisfactorily, even though he died many years ago. I took the Rare Genes from History for all available family members. There is a streak of the Thuya Gene and First Peoples Gene in all of us, as well as the Sinti Gene (which is Gypsy), while my brother Dick got our father’s Khoisan Gene, which is African. Incidentally, it has the same source as the !Kung people and head shape I mentioned before.

If you had H. G. Wells' time machine where would you go?

ECH: I would love to be able to visit my ancestors and see what they looked like, where they lived, how they lived and learn how they got to Appalachia from such disparate parts of the world. I wish I could talk with them. My project now is to visit all the places they are known to have come from and see what the architecture, climate, food, and people are like. That is about as close to "meeting" them as I will be able to get. So far, I’ve traveled to Scotland, Ireland, Wales, England, Spain, Tunisia and Morocco on the trail of my Sephardic Jewish ancestors. I am trying to get to the Silk Road to see Central Asia, Turkey and Northwest India in the near future.

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Phyllis Starnes:  Designer Genes

We interviewed Phyllis E. Starnes, assistant investigator, to find out what fascinates her about the field of DNA testing. Her story is the first in a series titled "Behind the Numbers" about the workers behind the scenes in our industry, from lab technicians to statisticians.

Interviewer:  How did you first get interested in DNA?

PES:  I went to the Melungeon Union in Kingsport [Tennessee, in 2002]. Beth Hirschman had her “stalk,” a diagram of her Melungeon family tree with all the names in her genealogy, many of which were also my surnames. I heard Dr. Yates speak at that meeting. They had their lines all pinpointed, thanks to DNA studies.

Interviewer:  What was your next step after that?

PES:  I came home and did a lot of genealogy research on the computer.

Interviewer: And then?

PES:  The first year DNA Consultants opened for business, which was 10 years ago, I ordered a Y chromosome test for my husband Billy. Other companies were offering the same product, but DNA Consultants was the only one to give you a full analysis and customized explanation of things. Then I ordered my own mitochondrial DNA test.

Interviewer:  Any surprises?

PES:  Billy’s top matches for his male line, the Starnes surname line, were Macedonia and Albania. My mitochondrial mutations matched Native Americans. I became the first of the “Anomalous Cherokees” whose female lineages didn’t fit in the traditional scheme of “Indians out of Asia.” In fact, my Hypervariable Region 2 mutations matched only one other sample in the world, and that was Dr. Yates, who is Cherokee in his direct female line.

Interviewer:  What did your husband and the rest of your family think?

PES:  Some were excited, as I was, but most were just not interested. My kids thought the strong Native American matches were very interesting.

Interviewer:  What other family members did you test?

PES:  As soon as autosomal testing arrived, with the DNA Fingerprint Test, I did Billy and myself, of course, Julia, Kiely and Holli (our three daughters), our granddaughter Keely, my Dad’s sister and Mother’s sister, an uncle and his wife, a niece and a cousin.

Interviewer:  What did you find out?

PES:  Within the immediate family, it was obvious who got which ancestry and trait from whom, and how they all resonated. One of the big surprises was my father’s side, which proved to have quite a bit of Native American and Iberian. The “First Peoples” gene came from his side and passed on down through our girls. On my mother’s side, 11 out of 20 matches was India.

Interviewer:   India!?

PES:  Yes, it appears we were finally seeing the extensive Romani/Gypsy heritage in her family. People had always told me I was like a Gypsy, from my clothes and jewelry to my attitude and outlook. When Billy was in the Navy, I told him one day, ‘I’m tired of being a Gypsy.’ I said I wanted to settle down in one place.

Interviewer:  Did you settle down?

PES:  Yes, we’ve lived in a small town in East Tennessee for almost 40 years. We moved here in 1973.

Interviewer:  Any other surprises in your DNA?

PES:  If you were to chart our geographical matches, both in terms of autosomal DNA as well as the female and male lines, it would surround the Mediterranean. That’s where Familial Mediterranean Fever comes in.

Interviewer:  Who has FMF in your family?

PES:  Billy, myself, Julia, Holli and a cousin. I’m sure others have it but it has not been diagnosed and they may call it instead fibromyalgia. Brent Kennedy [author of a book on Melungeons and their genetics] is a cousin many times over.

Interviewer:  What do you enjoy about your job?

PES:  It’s like a holiday every day. With customers coming out of North Carolina or East Tennessee, I see a lot of the same matches and genealogy I have personally encountered in my own experience with DNA testing. I recognize a lot of genetic cousins.

Interviewer:  When did you first hear the word “Melungeon”?

PES:  I grew up in Southwest Virginia in the little town where the Stony Creek Church is located. The church minutes contain the first written instance of the word. The register is all of mine and Billy’s ancestors, and part of Beth’s [Elizabeth Hirschman, author of books on Melungeons].

Interviewer:  What do you see in the future of DNA testing?

PES:  I think we’ve only glimpsed the tip of the iceberg so far, even though it’s been 10 years. We’ll continue to have new knowledge, new products. I highly recommend our customized approach.

Interviewer:  Any parting shots?

PES:  I’ve worked in sales all my life—jewelry management and design, my own interior decorating shop, running my own hair salon—but I have found something to be truly excited about in DNA. Funny I couldn’t get this excited about selling diamonds! If you think about it, your genes are the ultimate design for living.



Donald Yates and Elizabeth Hirschman speaking at Fourth Melungeon Union, Kingsport, Tenn., in June 2002. Hirschman, a professor at Rutgers University, went on to publish Melungeons: The Last Lost Tribe in America. Yates, a professor at Georgia Southern University at the time, founded a service for evaluating DNA reports that became DNA Consultants. The two authors have collaborated on a number of books and articles, including Jews and Muslims in British Colonial America. 

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Among the explosive stories in Sam Kean's excellent "biography" of DNA, The Violinist's Thumb (Little, Brown, 2012), is a chapter on what makes mammals mammals. The short answer is a placenta, and Kean begins by discussing a rare case of mother and daughter coming down with a hereditary form of leukemia, a sort of "simultaneous cancer." 

The chapter is titled "Love and Atavisms," and it zeroes in on the role of the major histocompatibility complex in the origin of mammals and selection of sex partners. MHC is the factor that makes some potential mates smell better than others to females (through pheromones). In one experiment, women were given tee shirts males slept in to smell, and they identified the "wildest" smelling as the most attractive. Same smelling T shirts were spurned, perhaps for the same reason members of our own nuclear family are not sexy-seeming to us. (In places with little genetic variety, like Utah, it was shown that pheromone sensors were inoperative.)

"In humans, MHC is located on the shorter arm of chromosome six (p. 169)." In the case of the infant born with her mother's congenital proneness to leukemia, the cancer cells had deleted her MHC. She developed acute lymphoblastic leukemia, eventually being successfully treated for it, although her mother died of it in the same timeframe.

"We don't think of cancer as a transmissible disease," Kean writes. "Twins can nevertheless pass cancer to each other in the womb; transplanted organs can pass cancer to the organ recipient; and mothers can indeed pass cancer to their unborn children, despite the defenses of the placenta (p. 176)."

But now comes the truly amazing revelation.

"Other scientists have painstakingly determined that most if not all of us harbor thousands of clandestine cells from our mothers, stowaways from our fetal days that burrowed into our vital organs. Every mother has almost certainly secreted away a few memento cells from each of her children inside her, too. Such discoveries are opening up fascinating new facets of our biology; as one scientist wondered, 'What consitutes our psychological self if our brains are not entirely our own?' More personally, these findings show that even after the death of a mother or child, cells from one can live on in the other. It's another facet of the mother-child connection that makes mammals special." (pp. 176-77)

Thus female DNA lives on down the ages, while male DNA shows a fragile character and is doomed to experience dead ends. Siblings may get different "clandestine" cells from the same mother and develop different heteroplasmies, accounting in part for their different personalities, abilities and family traits.



Listen to an in-depth interview with Sam Kean by Terry Gross on NPR's "Fresh Air"

Environmental doctor Anne Marie Fine of Scottsdale, Ariz. was one of the first physicians to adopt genetic tests as part of her practice in 2002. Recently, she gave a brief introduction to the role epigenetics plays in human diversity at the 12th annual Conference on Diversity in Vancouver, British Columbia. Her paper with Donald N. Yates, "Epigenetics and the Autosomal DNA of Human Populations: Clinical Perspectives and Personal Genome Tests," should appear soon, but in the meantime you can watch a short video of her epigenetics presentation (5:37). Epigenetics is beginning to loom as a much more important factor in multigenerational health than mere genetics. We would be interested in your comments!

The sequencing of the human genome capped off the 20th century's tireless search for genetic causes for all diseases.  But epigenetics is the hot new science now. Dr. Anne Marie Fine, a Scottsdale physician, certainly thinks so. Dr. Fine spoke in Paris recently on Epigenetics and Beauty and next month will present a paper called "Dining at the Epigenetic Cafe" in Monte Carlo, Monaco at the largest European physicians' anti-aging conference.  In June she will present a paper entitled "Epigenetics and the Autosomal DNA of Human Populations: Clinical Perspectives and Personal Genome Tests at the University of British Colombia, Canada," with Donald Yates, principal investigator at DNA Consultants, along with participating in a 90 minute colloquium on epigenetics, autosomal DNA and ethnic identity.  Clearly, epigenetics is stealing the show!

From the Fine Center for Natural Medicine News, here is how Dr. Fine describes epigenetics and its promise:

"Epi" literally means "above" so epigenetics are the influences from above that affect the DNA. Epigenetics refers to modifications to DNA and chromatin, the protein scaffolding that surrounds the DNA, that persist from one cell division to the next, despite a lack of change in the underlying DNA sequence.  So the "epigenome" refers to the interface between the environment and the genome.  This is the basis behind the new science of epigenetics- how the environment affects the cellular DNA. Cells are bathed continuously in a sea of changing environmental conditions.  This means the epigenome is dynamic and responsive to environmental signals especially during development, but also throughout life.  It is becoming increasingly apparent that stress, environmental chemicals, and nutrient deficiencies are some of the biggest factors that promote epigenetic changes to the DNA.  In addition, some of these changes in gene expression persist long after the exposure has stopped.  What this means is that these changes can transcend generations.

It is becoming clear that a wide variety of common illnesses, behaviors, and other health conditions may have at least a partial epigenetic etiology, including cancer, respiratory, cardiovascular, reproductive, and autoimmune diseases, neurological disorders such as Parkinson's, Alzheimer's, and other cognitive dysfunctions, psychiatric illnesses, obesity and diabetes, infertility and sexual dysfunction.  Effectors of epigenetic changes include many agents, such as heavy metals, pesticides, tobacco smoke, polycyclic aromatic hydrocarbons, hormones, radioactivity, viruses, bacteria, basic nutrients, and the social environment, including maternal care.  It has even been suggested that our thoughts and emotions can induce epigenetic changes.

"Incredibly, only about 2 percent of diseases can be attributed to locked-in single gene mutations," says Dr. Fine.  Most disease occurs as a complex interaction between genetic susceptibility and the environment.  This means, while there are genetic predispositions,  there are environmental triggers that actually start the disease, but also environmental factors that protect against developing the disease.   The key is to understand which factors promote disease, and avoid them, and which protect, and seek them out.  Our genetic makeup doesn't necessarily determine our biological fate.  "Genes may load the gun, but environment pulls the trigger," says Dr. Fine.

James Watson once said that the double helix contains a library of detailed information about all generations of our ancestry "if only we could read it." Combining epigenetics and the advances in autosomal DNA tests, we are beginning to read the whole of human medical, evolutionary and ethnic history, at least in outline form. 

Discussion is accelerating in the United States and European Union to regulate private genomic testing that provides consumers medical information, according to Science magazine and the European Journal of Human Genetics. No mention is made in the reams of white papers about ancestry testing, but some of the pitfalls and bureaucratic morasses in the thinking about true genetic/medical testing are fairly ominous, if not silly.

"Although there has been speculation about the potential psychosocial harms of testing [that is, genomic medical testing], such as an increase in anxiety or encouragement of fatalistic behavior, there are, to date, few studies addressing these concerns," writes the reporters for Policy Forum in the Oct. 8 issue of Science. "The limited evidence tends to be reassuring, even for risk information associated with relatively serious ailments...however, the scope for potential harm from unnecessary or unproven treatment after genetic risk assessment is an important unstudied question" (pp. 181f.).

We commend scientists and physicians for finding a new field of study divorced from reality but have to wonder what they will do about ancestry testing once they have conquered and tamed Frankenstein's elder monster. We suggest the following guidelines:

• Labeling on Internet sites and Zen Shopping Carts that explicitly states, "The claims for this ancestry product have not been evaluated by the U.S. Government Accountability Office (GAO), U.S. Federal Trade Commission (FTC), House Energy and Commerce Committee, Food and Drug Administration, National Institutes for Health or Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA 98195 USA."
• Predictive ancestry information may be hazardous to your progeny.
• No animal has been harmed in the production or clinical evaluation of this ancestry test.
• If you discover you have ancestry you did not expect, take a deep breath. Then take a healthy dose of skepticism, followed by two aspirins and a glass of water.

In an article titled "Indian Tribe Wins Fight to Limit Research of Its DNA," Amy Harmon reports that Arizona State University has agreed to pay the Havasupai Indians of the Grand Canyon $700,000 and return blood samples collected from them for diabetes studies in the 1990s. The university's Board of Regents apologized to the tribe for...well, that part of the story is not clear. Not informing them that the samples might be used for "wider-ranging genetics"? Not informing the subjects that they reached negative conclusions and found no "diabetes gene" as they believed they had in a Pima Indian study? Not getting permission (no, that was done with simple-to-understand, signed consent forms, as was proper)? Coming to different conclusions about the Havasupai's origins than their myths and legends? Allowing people to "get degrees and grants" using "our blood"? Implying that the Havasupai are inbred? One Havasupai woman found that offensive.

Many tribal members were disgruntled because they were still suffering from diabetes after the university "took their blood."

Sorry, Havasupai Indians, a project participation consent form is not a treaty. But if you signed it, you should honor your word. You cannot go back now and require the researchers who use your samples to come to research conclusions that suit you and be silent about those that do not. Science (and society) doesn't work like that.

The tribe's dictates to the University were mercenary and the University's decision to pay the tribe off, wrong. The case sets a bad precedent and places another barrier between Indian peoples in remote areas and the real world.