Wired Genetics News

Scientists say pinning down chronological age isn't possible, though some countries are trying to find biomarkers to aid in their juvenile justice systems.

A government scientist reports that DNA taken from the bodies of people killed in the 2001 anthrax attacks helped lead investigators to Bruce Ivins, who oversaw the highly specific type of toxin in an Army lab.

Curious about that wheat-gluten allergy that runs in the family? Wondering if you're more likely to develop cancer than your mate? There are several options for testing the stuff your genes are made of, ranging from online DNA-sequencing shops to home-brew basement kits. Grab your cotton swabs and confront your future.

A prominent genetics research facility, the Wellcome Trust Sanger Institute, recently sequenced its trillionth base pair of DNA, illustrating the exponential increases in speed that new DNA sequencers have made possible.

A new experimental technique strips a key gene out of T-cells in mice, blocking their ability to produce a protein that HIV uses to enter and take over the T-cells. The result: cells that are nearly impenetrable to the virus.

A high-profile genetic testing company reveals how they plan to stay in business after receiving a cease-and-desist letter from California's health department. Their argument? DNA is data.

Your DNA might be your data, but governmental control over analyzing that data appears to be enshrined in California law.

The regulatory battle over genetic testing has claimed its first victim in the state of California as HairDX shutters its direct-to-consumer Internet sales after being sent a cease-and-desist order from the state's public health department.

Genetics testing companies face off against California's health department requirement that they submit plans for coming into compliance with the biological materials testing laws or face civil and criminal sanctions.

Gov. Arnold Schwarzenegger told the crowd today at BIO, the world's largest biotechnology conference, "If you have anything to do with biotech, California is one of the best places to set up shop."

But his public health department appears determined to shut down one of the most promising areas of the field -- genetic testing.

Last Monday, the state's laboratory field services group issued 13 cease-and-desist letters to genetic testing companies. Wired.com obtained a copy of the letters (pdf.) from two recipients. And the tough talk in a recent teleconference among regulatory officials confirms the seriousness of the department's intent.

"We [are] no longer tolerating direct-to-consumer genetic testing in California," Karen Nickel, Chief of Laboratory Field Services at the health department, told members of the Clinical Laboratories Advisory Committee on June 13.

Targeted companies include personal genomics startups 23andMe and Navigenics. These services are seen as the leading edge of a new type of health care in which consumers can use their genetic profile to tailor their medical and lifestyle choices. The established medical community, however, is wary of the technology arguing that the medical utility of some tests is unproven. Doctors also complain that direct-to-consumer services bypass them as the gatekeepers and analysts of medical information, which they worry could confuse consumers, not to mention cost them a billing event.

The health department's actions are a direct challenge to the viability of the infant DNA-testing industry, for which physician involvement is shaping up to be a major battleground. As far back as a September 2006 meeting, health department officials were voicing concerns over "nutrigenetic tests that analyze a limited number of genes to give personalized nutritional and lifestyle recommendations."

But genetic testing companies say they are "information services" that simply provide data about their customers' DNA. Genetic testing companies argue that they should be subject to a similar level of oversight as over-the-counter tests, like those available for determining paternity. Only New York requires a prescription for a paternity test.

The cease-and-desist letter, signed by Nickel, cites seven California statutes, beginning with the Business and Professions Code Section 1241, which requires that "all clinical laboratories in California ... possess a clinical laboratory license."

But the letter's strongest wording is reserved for a section of the law, Business and Professions Code Section 1288, which requires a doctor's note for all laboratory tests, unless, like pregnancy tests, they are specifically exempt from that law.

"Genetic tests are NOT exempt," the letter reads. "As such, the test must be ordered by a physician or surgeon."

Kristine Ashcraft, director of operations for another genetic testing company, Genelex, which was not sent a cease-and-desist letter, criticized New York's policy and the application of that framework to genetic testing in California.

"All they've done is created an extra billing event for the doctor," Ashcraft said.

As Navigenics CEO Mari Baker put it, "You hope [the health department officials] understand the difference between a genetic risk assessment and a diagnostic test."

Nevertheless, Baker says that her company has taken pains to involve a California-licensed physician in its process. Furthermore, she stated that her company outsources its laboratory work to Affymetrix, which does possess a licensed clinical laboratory in California. Affymetrix, we confirmed with a company source, was not served with a cease-and-desist letter.

In a June 13th health department conference call, officials stated that 25 "genetic businesses" were part of an extensive investigation.

In a summary of the regulatory action, Nickel said that 13 companies were to immediately cease testing and "desist from ever doing it again."

Nickel added that the state had talked with the state of New York, which sent similar letters, and looked forward to federal regulation.

While Nickel took issue with the testing business, she said that "public interest in personalized medicine" was driving the use of genetic information.

Though the health department has stated that the investigation of genetic testing companies came as a result of "multiple" consumer complaints -- no specific incidents were mentioned in the call.

DNATraits.com managing partner Bennett Greenspan, whose company received a letter from the health department, said that he didn't believe that consumer outcry sparked the investigation.

"If we could find out who put the bee in their bonnet, my guess it's the medical community," Greenspan said. "I think that the medical community doesn't want to lose control of who orders the test."

Reporter's note: No transcript or online version of the June 13 call is available, but interested parties can call 866-837-8032 and enter Access 123-9562 until July 8th to listen to a recording of the whole three-plus-hour call. (Be forewarned: There's no skipping ahead, and the genetic testing discussion follows a variety of procedural discussions before it gets to the relevant information.)

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Is reading someone's genetic code the same thing as practicing medicine? That issue has always loomed over the nascent direct-to-consumer genetic-testing industry, which includes such well-known names as 23andme, Navigenics, and DeCodeMe.

It has become very real now that California public-health officials have ordered 13 online companies to immediately stop offering their services in that state.

The companies offer genetic tests that look for DNA mutations associated with a higher risk of developing heart trouble, dementia, or other maladies. Some critics have said that the science behind some of these tests is relatively new and may be incomplete.

Others say the tests are dangerous because they can identify risk factors for some conditions that have no treatment, such as Alzheimer's disease.

The California Department of Public Health contends the services violate medical-testing rules that require a physician's involvement and proof that tests produce a valid medical result.

The real issue, however, may be as much about turf and how society will react to this new technology as patient safety.

Companies offering the tests have made a point of sidestepping doctors, insisting that consumers have a right to know the information coded in their genes. They also have said that the results they deliver are informational, not diagnostic.

Bypassing traditional medical outlets is an important issue for these companies, since much of the medical establishment hasn't yet embraced widespread genetic testing. Traditional health-care providers tend to be skeptical of the usefulness of the results.

That skepticism would not bode well for a business model that depends on them to be the gatekeepers for ordering these tests. Requiring a doctor's approval also seems overly paternalistic to many believers of the Web 2.0 ethos of free access to personal information.

In the past, the state public-health department has laid out five criteria for direct-to-consumer genetic testing companies:

• Is there a California licensed physician involved?

• Are tests being authorized by a California licensed physician?

• Does testing include pre- and post-test counseling?

• Are tests being conducted at CLIA Certified [federally approved] labs?

• Are the tests validated?

The answers to these questions vary by company, and some of the questions are being debated as to exactly what they mean.

All three of the biggest providers—23andme, Navigenics, and DeCodeMe—conduct their tests in labs that have been federally certified, for instance, but do not offer counseling. One, Navigenics, says it uses doctors to process orders.

The question of what is meant by a "validated" test is also open to debate. The tests are all "valid" in that they usually provide accurate information about one's genetic makeup—that is, whether one has a particular base (adenine, cytosine, guanine, or thymine) at a particular spot in their genetic code.

But most of the tests have not yet been through rigorous testing with human trials to confirm their accuracy and validity as predictors of risk factors for disease.

California's move comes several weeks after its health department said it was investigating consumer complaints against online-testing sites. Karen Nickel, chief of laboratory field services for the California Department of Health, recently told Forbes: "The tests have not been validated for clinical utility and accuracy, and they are scaring a lot of people to death."

New York State has also written to several online genetic-testing firms warning them they are not in compliance with similar laws in that state. The companies have suspended operations there as they hold discussions with authorities.

The federal Department of Health and Human Services plans to hold hearings in Washington next month to investigate online genetic testing. The hearings could lead to federal regulations.

As society sorts through the promise of this technology, doctors, hospitals, and other powerful economic and political stakeholders are likely to join the debate. Public-health bureaucracies also will continue to weigh in if they feel that these tests are a danger to the public.

Eventually, the stakeholders will come together, as they should, to forge a new mandate. What exactly this new DNA regime will look like will depend on all parties working together to insure what I believe should be three criteria for genome-wide genetic testing:

• Individuals have freedom of access to their personal genetic data.

• A system of trials and approvals be implemented that insure the validity of genetic tests and risk factors.

• Doctors and other experts have a vital role in the analysis of disease-oriented information and should use it as part of an overall diagnosis for a patient's health.

Balance is the key here, as in so many debates about markets. Overregulation can squelch innovation; under-regulation may lead to commercial abuse, consumer confusion, and distrust of these tests.

The California Department of Public Health has put a stop to sales by 13 genetic-testing startups, including 23andMe and Navigenics, stating that their tests do not meet state standards.

In response to California's crackdown of genetic-testing startups, Wired's Thomas Goetz makes an argument for why access to one's own DNA is what the new age of medicine is all about -- the democratization of the tools used to interpret fundamental information about who we are as people, rather than gate-keeping by a select few.

An obscure bill that sailed through Congress and was signed into law last month is stoking fears of a nationwide DNA warehouse potentially open to abuse by law enforcement agencies or health insurance companies.

But proponents say the law is a much-needed rationalization of the way the government stores and tests blood from newborns.

The Newborn Screening Saves Lives Act of 2007 (S.1858/H.R. 3825), signed into law on April 24, empowers a committee to provide guidelines to all states on how -- and for how long -- they should store blood. At present, all states store blood from all newborns, and some, like California, store it indefinitely. Eight of the committee's nine members are medical researchers, who almost universally favor longer storage times, so critics fear that the national guidelines will lead to more storage of samples, which contain recoverable DNA.

"What we are doing is taking an individual genetic code and saying it's the government's," said Twila Brase, of the Minnesota activist group Citizens' Council on Health Care. "And once we do that, it's available for whatever a legislature wants to do in 20 years. The fact of the matter is that we don't know what they could or would do."

States have been storing blood samples from newborns since blood screening for genetic defects and diseases began in the 1960s. The samples can help detect and treat a wide range of diseases, but in the age of the genome, the issue of storing samples has taken on unprecedented importance. Blood samples contain DNA that can be unambiguously linked to individuals, which may in the future present tempting data to governments, businesses and health providers.

Currently, each state has its own policy about storing newborn blood samples. California has screened and stored more than 12 million newborn babies' blood spots since 1980, while Texas disposes of them within months.

Brase's group wants to see all so-called biobanks destroyed.

"You're building an entire DNA warehouse for the public without the public's consent," Brase said. "Who will own the DNA of the citizens and what is that going to mean? And what we're doing is pushing an entire genetic research program on the population without the consent of the population."

Proponents, however, say the scientific and medical value of the blood samples far outweigh the privacy risks of storing biological material from every newborn.

"They are extremely valuable when they are anonymized for research when looking at new technologies," said Edward Howell, chairman of the committee referred to in the bill, the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children to the Health Resources and Services Administration. "Those conspiracy theories are very popular on the blogs, but … the states have been very careful in dealing with [blood spots]."

Howell says law enforcement agencies have asked states for blood samples and been turned down.

"The bottom line is that many states have kept these for a very long time and I am unaware of anything that has been done with them that would concern even a very conservative person," Howell said.

Edward McCabe, co-director of the UCLA Center for Society and Genetics and co-author of DNA: Promise and Peril, agreed that so far, states have been trustworthy guardians of their biobanks.

McCabe said that even in the case of the identification of a missing child, California's health regulators still turned down a law enforcement request to use a blood spot.

He applauded that decision and others like it that establish a clear policy for dealing with the samples and limiting their use.

"We actually think there ought to be a firewall between forensic and medical uses," McCabe said.

And he argued that -- from a health care perspective -- the samples are extremely and uniquely useful.

"It's one of the most unbiased cross sections of the newborn population of a state," McCabe said.

Donna Levin, who as general counsel for the Massachusetts Department of Public Health works in the trenches with the issue, said she believed her state's policy had the right ethical safeguards in place.

"Parents are told prior to screening that the residual specimen is kept for at least 10 years," she wrote in an e-mail.

She also noted that all research conducted on residual specimens has to be approved by an Institutional Review Board, which set ethical guidelines for human experiments. The state also requires that research on identified specimens only be conducted with the informed consent of the subject of the specimen, or a parent/guardian.

Those are the types of checks-and-balances that the newly empowered committee could take up during their next meeting this September, when they will begin drafting the state guidelines.

One thing is for sure: As scientists and law enforcement officials continue to learn more about how to use the DNA in each of our cells, the way biological samples are handled by the government seems certain to receive more scrutiny.

"The whole confidentiality issue is certainly a huge issue in the age of genomics," McCabe said.

Since its launch in 1990, the Human Genome Project has earned worldwide admiration, racked up $437 million in US government funding, and even landed its own day (April 25 is National DNA Day). But the genome alone can't explain how our bodies work. For that, you need to decode a lot of other "-omes" — all the complex biological systems that regulate how we develop. (The suffix is borrowed from the word chromosome, but scientists have gotten pretty fast and loose with it.) Tracking them all requires an omeome.

#ome{border-style:none;}#ome tr {padding:0px;margin:0px;border:0px;background-color:#a5c363;border-style:none;}#ome th {color:#fff;padding:6px;background-color:#000;border-right:3px solid #fff;}#ome td {height:20px;padding:6px;border-right:3px solid #ccc;border-bottom:2px solid #c5da76;}#ome .r {border-right:0px;}#ome .rh {border-right:0px;}#ome .btm td {border-bottom:0px;}#ome a {color:#fff;}#ome a:active {color:#fff;}#ome a:hover {color:#cef92d;}#ome a:visited {color:#030303;} The "-ome" What it is Why it matters Epigenome The history of environmental influences on a genome. Factors like diet and pollution messed with our ancestors' DNA. Pinpointing how would help explain human development patterns. Metabolome Analysis of the small molecules used in creating energy. Getting a grip on metabolites could be the key to the ultimate personalized diet or deciphering metabolic disorders like diabetes. Microbiome The combined genomes of all the organisms in your body. Outsiders like bacteria and fungi shack up with human cells. Knowing everything about them could clarify their role in sickness and health. Physiome A detailed blueprint of the human body. This is no mere organ wall chart. Modeling the body on scales from the atomic to the cellular could help predict disease outcomes. Proteome The full range of proteins in a cell, tissue, or organism. Proteins play a part in almost everything your body does, so they're key to understanding everything from digestion to cancer. Transcriptome All the messenger RNA molecules — transcripts — in a cell. Transcripts initiate gene expression and capture a record of genetic activity, which might reveal what some mystery genes do.