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How Secure Is Your DNA?

Wednesday, March 27, 2013
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 
intimate look into family history, risk for illness, behavior, internal clock, propensity for thrill seeking, and countless other aspects of a person’s life, personality, behavior, and place in the world. Accessing this treasure trove of genetic information has some amazing benefits, but it also comes with some serious concerns.

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 2005The 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. 

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Elizabeth Hirschman, Modern Pioneer

Friday, December 07, 2012
Check Out DNA Fingerprint Plus $300 

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.

Professor Hirschman has published over 200 journal articles and academic papers in marketing, consumer behavior, sociology, psychology and semiotics. She is past President of the Association for Consumer Research and American Marketing Association-Academic Division. Professor Hirschman was named one of the Most Cited Researchers in Economics and Business by the Institute for Scientific Information in 2009; this recognition is given to the top .5% of scholars in a given field.  


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Panel at Vancouver Diversity Conference Will Address Concepts of Ethnic Identity

Monday, January 23, 2012
Will explore theme of official and unofficial ethnic self-identification from perspectives of genetics, marketing and other disciplines

A team of professors has just submitted a proposal for a 90 minute panel discussion at the 12th International Diversity Conference in Vancouver, B.C., June 11-13, 2012.

We'll use this blog to announce updates and you may place comments here and link to it.

Title:
Perspectives on Ethnic Identity: Epigenetics, Marketing, DNA and Genealogy

Panelists:
Donald N. Yates, DNA Spectrum
Dr. Anne Marie Fine, Fine Natural Medicine
Elizabeth Caldwell Hirschman, Rutgers Business School
Teresa A. Panther-Yates, Paradise Valley Community College, Phoenix
Wendy D. Roth, University of British Columbia
Phyllis E. Starnes, DNA Consultants

Description
Genetics has transformed many of our notions of race, ethnicity and identity. How do people in North America's melting pot of emigrants admixed with indigenous and African slave descendants self-identify when naming their primary and ancillary ancestries for official and unofficial purposes? The fundamental question of who you are and what you claim to be will be raised from the perspectives of marketing and consumer studies, sociology and direct-to-the-consumer DNA testing, genealogy (with a focus on the ethnic group known as Melungeons), epigenetics and medical marketing, and the special case of American Indian Descendants and Partial Descendants.

Stream: Identity and Belonging; the Politics of Diversity; Globalisation
Presentation Type: 90 minute Colloquium in English
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Regulation Unlikely in Europe

Thursday, March 17, 2011
Personal genetics: regulatory framework in Europe
from a service provider's perspective


Keith A Grimaldi, Markus P Look, G Antonio Scioli, Juan Coll Clavero, Stathis Marinos and Tassos Tagaris

European Journal of Human Genetics 19, 382-388 (April 2011) | doi:10.1038/ejhg.2010.189

Abstract
The purpose of this article is to give an overview and discuss the relevant regulations in place, or under consideration, regarding healthcare-related personal genetics services in Europe – this is a rapidly evolving field and in most European Union (EU) countries the regulatory framework is not yet clear. The review will be framed from the perspective of potential service providers (companies, health services and practitioners, including medical, nutritional, complementary, etc), the growing number of which will need to be aware of potential regulatory hurdles existing now and that may arise in the future. The main conclusion from the survey is that strict regulations regarding practitioner-delivered personal genetic-testing services are unlikely to be enforced over the next 5 years in most EU countries, with the exception of Germany. There is broad-based, but by no means universal, support for a strong voluntary code of practice as an alternative to government regulations to protect consumers and to enable all stakeholders to recognise serious and reputable service providers. On the other hand, there are influential bodies calling for strict regulation. As genotyping costs rapidly fall, it is likely that it will become routine and a major challenge that does not seem to be addressed by current debate on regulations is the emergence of companies offering/selling personal genetic services based on a customer's pre-existing genetic results and therefore no actual laboratory testing involved.

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Are We Gazing into Crystal Ball or Navel?

Saturday, February 05, 2011
Science 4 February 2011:
Vol. 331 no. 6017 p. 547
DOI: 10.1126/science.1202571

Genome-Sequencing Anniversary

The Golden Age of Human Population Genetics 

By Molly Przeworski

Professor, University of Chicago, Chicago, IL, USA, Howard Hughes Medical Institute Early Career Scientist

Figure
N. KEVITIYAGALA/SCIENCE

The first draft of the genome provided the road map for the past decade of research in human genetics, allowing for the design of platforms that have been used to query variation in populations worldwide and helping to drive down the cost of sequencing by several orders of magnitude. Within years, tens of thousands of complete genome sequences will be available from humans and from extinct hominids, as well as from thousands of other species. Given the human mutation rate, we will soon know of variation among individuals at almost all sites in the genome. For population genetics, this ushers in a previously unimaginable opportunity to reconstruct the entire genealogical and mutational history of humans and pushes us against the limits of what we will be able to infer about the evolutionary and genetic forces that affected every region of the genome. Why are disease mutations present in human populations? What is the genetic basis of our cognitive and physiological adaptations? What was the sequence of demographic events that led to the colonization of the globe by modern humans? Stay tuned, and before long, we should know as much as genetic data alone can tell us.

Yes, we've heard exalted claims before, like 10 years ago, when the next phase of the Human Genome Project was to be devoted to the "conquest" of disease. How many diseases have been conquered in 10 years, after billions of research dollars? Guess. None. And as far as population genetics goes, the whole story of "classic" Darwinian evolution seems to be unraveling before our eyes with every passing month (except of course in textbooks and the creationist opposition, where it never changes). If we can't be sure about evolution, how can we decide what is true about early human migrations?

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DNA Was Invented by Watson and Crick in 1953, Right?

Wednesday, December 15, 2010

Wrong. According to a correction in Nature, it was discovered by Swiss physician Friedrich Miescher in 1869, nearly a hundred years before. James Watson, Francis Crick and the less often mentioned Rosalind Franklin were responsible for determining DNA's structure, a double helix shape.

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US, EU Move to Regulate Direct-to-Consumer Genetic Testing

Sunday, November 28, 2010

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.
We're waiting for the next gambit from the genius bar in Washington!
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VIEWPOINT: Personalized Genomic Information

Wednesday, February 03, 2010

Preparing for the Future of Genetic Medicine

Alan E. Guttmacher et al.

Nature Reviews Genetics 11, 161-65 (February 2010)

Four experts with different insights into the field of genomic medicine answer questions about the prospects for using this type of information. The issues range from scientific to ethical and logistical.

 

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Does deCODE's Bankruptcy Signal False Promise of Genetic Medicine?

Sunday, December 06, 2009
Future Shock or Future Letdown?

New York Times reporter and DNA author Nicholas Wade raised an interesting question in his report on the bankruptcy last month of Iceland's deCODE Genetics, which attempted to make it possible for an ordinary consumer to buy the latest applicable information on the connection between their personal genes and their personal disease risk. The article was titled "A Genetics Company Fails, Its Research Too Complex."

In the November 17 edition in the Science and Technology section, Wade wrote:  "The company's demise suggests that the medical promise of the human genome may take much longer to be fulfilled than its sponsors had hoped." But there may be more to the story. "The discovery that major diseases do not have any simple genetic pattern of causation has dealt a serious setback to the gene-hunting field as a whole," he added.

Signs of the deflation of the field of "gene hunting" over the past 10 years since the Human Genome Project was completed and the second phase of the HGP was announced as focusing on the "conquest" of disease are:

  • Discovery that genes are not found in continuous sequences or segments or even on the same chromosome.
  • Realization no DNA can be considered "junk DNA" and even "non-coding" loci have at least place-holder functions and hence their values are not neutral.
  • Greater respect for the role of environment in inheritance, including the nano-environments within the cell where DNA is stored and replicates.
  • Jumping the gun on numerous claims concerning genome-wide association studies in scientific journals like Nature and Science, and subsequent retractions by editors and authors.
  • Ever increasing sample sizes with ever increasing lack of robustness for the data and clarity for conclusions.
  • A push for extending genetic surveys to rare and under-represented populations, with few surprises in the analysis of the implications for medical research or consequent benefit for public health.
  • Diminishing returns on research investment (ROI) on nearly every front.
  • Not a single viable gene therapy product ever introduced.
  • Realization that only very rare genes are discoverable and selection usually takes care of them and extinguishes them over time; hence the bulk of medical research funds goes toward the rarest of cases and not widespread disease such as cancer or diabetes.
Harvard biology professor Richard Lewontin maintained as long ago as the 1960s, and continued to warn even on the eve of the completion of HGP I in 2000, that gene hunting was essentially a scientific fetish with little true power or efficacy. In 1992, he wrote "The Dream of the Human Genome" as a review article in response to The Code of Codes:  Scientific and Social Issues in the Human Genome Project, edited by Daniel J. Kevles and Leroy Hood, and seven other recently published books on the subject of genetics and medicine. The essay was reprinted in Lewontin's own book It Ain't Necessarily So (second edition, New York Review, 2001). 

I think it is time to elevate gene hunting to the danger of something beyond a harmless fetish for the members of a narrow profession or scientific sect. Its waste and failures have taken on the proportions of a national form of folly and collective denial. While huge expense and sensational efforts continue to be thrown away on the molecular biology revolution, the need to renovate our neglected infrastructure and reform political mechanisms goes unanswered. Resources that might be better allocated keep dwindling. The supposedly most advanced society in history turns a blind eye on such relatively easy measures of public health as universal health care and uncontaminated chemical-free food and water supplies. While geneticists continue to cackle about inch-sized strides in their progress toward scaling the distant peaks of genetic medicine we are slipping into the abyss of logical disconnects. 



Comments

naturopathic physician commented on 06-Dec-2009 02:34 PM

The area of personalized genomics for health intervention has not really panned out. For example, the BRCA 1 and BRCA2 genes were hailed with great fanfare a few years ago as causal agents of breast cancer. But the true percentage of BRCA 1 and 2 mutations contributing to breast cancer are between 5 and 10%, leaving an astounding 90-95% of breast cancer due to other environmental factors. It is those factors that bear looking into, not the "faulty" genes.

The available personalized SNP (single nucleotide polymorphism) panels that are available today for use without a physicians input, are leading people into unproven territory as the true associations between these SNPs and the disease they purport to contribute , is not supported by science.


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Iceland's deCODE Defunct

Saturday, November 28, 2009
Icelandic genomics firm goes bankrupt

Nature 462/401 
23 November 2009

In a report by Erika Check Hayden, the journal Nature gloated that the innovative personal genomics company deCODE Genetics went out of business, leaving the disposition of valuable genetic data unclear. "After struggling financially for years, the genomics company deCODE, based in Reykjavik, Iceland, filed for bankruptcy on 16 November," wrote Hayden, who follows the genealogy-and-genetics business beat for Nature. "The question now is whether other companies looking to commercialize genomics will follow the same path." 

DNAPrint of Sarasota, Fla., went down that path last February without even an obit in scientific journals.

But according to Kari Stefansson, deCODE's CEO, the fate of the data never was in play since it belonged to individuals who had their DNA tested at their own expense with the service lab of deCODE. The lab, Islensk Erfdagreining, continues to operate today "under the same data and privacy protections as ever, rooted in the Icelandic community and within a tried and tested regulatory environment," wrote Stefansson in a comment on the online report by Nature. 

Such an accidentally-on-purpose misunderstanding is more than sloppy science journalism or bad science. It reveals the fundamental hostility of academic geneticists and related disciplines to commercializing or even popularizing DNA. Geneticists should stop thinking they are doing God's work. They should give up the illusion that the great generality of humankind can only understand, profit from and benefit from their work if they, the scientific intelligentsia, condescend to allow it and specify the conditions and goals of its use. 

Those on the payrolls of governments and public institutions have received so much money they think now they can be governors -- governors of the applications of their research.
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