Life Technologies Corp., a Carlsbad, Calif., genomics company, plans to introduce Tuesday a machine it says will be able to map an individual’s entire genetic makeup for $1,000 by the end of this year. Moreover, the machine and accompanying microchip technology, both developed by the company’s Ion Torrent unit, will deliver the information in a day, the company says.

 If Life Technologies delivers on the claim, it would likely make the company the first among a group of rivals racing to produce a $1,000 gene map. The current cheapest sequencing costs about $3,000 and takes a week.

The goal, triggered in part by an initiative launched by the U.S. government’s National Human Genome Research Institute in 2004, already has resulted in a dramatic cost reduction in sequencing all three billion units of DNA, known as base-pairs, that make up the human genetic code.

Scientists say that breaking the $1,000 barrier—roughly the price of an MRI test—will accelerate an already fast-moving transformation in genetic discovery and drug development.  Some experts believe a person’s genetic code eventually will be used routinely to guide prevention and treatment of illnesses throughout life.

Drug companies increasingly are identifying gene variants that they can target with drugs. And geneticists are identifying more and more diseases that result from a mutation in just one gene.

The hope is that mapping variations in the entire human genome can speed up or improve disease diagnosis and aid in developing more medical treatments targeted to patients with a specific genetic makeup.

Genomic information also may give individuals information about their risk for a common disease and predict how one will respond to particular medications or environmental exposures, such as radiation from medical tests, according to the U.S. Department of Energy Genome Programs.

Whole-genome sequencing—as opposed to identifying just a subset of genes suspected of being linked to an illness—allows scientists to look broadly across all genes for mutations that are associated with diseases.

This “broad net” approach is particularly useful when researchers don’t have a good sense of which genes might be involved in a disease and may identify a novel drug target, said Richard K. Wilson, director of the Genome Institute at Washington University in St. Louis.

Eventually, if people can be sequenced early in life to learn about health risks, such as aneurysms or early-onset heart attacks, they may be able to take preventive drugs or boost the monitoring of their health, Dr. Wilson said.

With single-gene conditions such as sickle-cell disease, sequencing the whole genome could be useful in identifying “modifier” genes that work with the primary mutation to make a disease more or less severe, Dr. Wilson added.

But understanding how genes work together to cause a condition or to develop a treatment will require extensive laboratory research far beyond merely analyzing the genome, said Karen Kaul, a molecular pathologist at NorthShore University HealthSystem in Evanston, Ill., and spokeswoman for the American Society for Clinical Pathology.

“We are just beginning to scratch the surface about what [genomic] changes are clinically relevant,” she said. “I think we have to be realistic and a little cautious” about current genomic information.

Completion of the Human Genome Project in 2003—which for the first time mapped the human genome—created high expectations that a stream of new drugs would soon flow out of pharmaceutical labs. When that didn’t happen, skeptics questioned the value of the effort.

But in the past year or two, drugs based on genomic information have begun to reach the market.

Still, the wider availability and lower price of sequencing raises the question of how to convert the flood of genetic data into useful information for drug development and treating patients.

“We can sequence the genome for dirt cheap,” said Eric Green, director of the NHGRI, “but we don’t know how to deal with the data. We’ve got to work on that.”

Whether Ion Torrent actually hits the $1,000 target by year’s end won’t be known until the machine and its accompanying technology are delivered and tested by top sequencing centers. Some earlier promises to hit less ambitious price targets by industry participants have failed to meet deadlines or pan out.

Just four years ago, Knome Inc. of Cambridge, Mass., introduced the first commercial human genome, priced at $350,000. Until recently, the high cost largely has limited sequencing to a handful of people, including the late Apple Inc. chief executive, Steve Jobs, according to a recent biography of him by Walter Isaacson.

Even now, only an estimated 1,800 whole genomes have been sequenced using high-quality technology, according to the National Human Genome Research Institute.

Current machines marketed by Illumina Inc. of San Diego, the market leader in sequencing devices, can decode an entire human genome in about a week for about $3,000.

In the wings, said Jeff Schloss, a program director and technology expert at NHGRI, are newer approaches to sequencing that could help drive the price of a genome down to $100.

Jonathan Rothberg, founder of Ion Torrent, is unveiling the machine Tuesday at the annual J.P. Morgan Healthcare conference. It will cost $149,000. The announcement comes amid challenging times for sequencing companies despite the rapid leaps in technology as restraints in government and academic research budgets and the uncertain economy have damped sales of big-ticket sequencers.

When they asked how much it would cost, “nobody knew,” Corcoran said. “No one would tell me.”

They called around, and found that the price of an MRI varied from $350 to $1,200.

That experience was a driving force behind the health care price transparency bill that the New Port Richey Republican introduced this year. It was approved overwhelmingly and takes effect on Friday.

Urgent care clinics across the state will be required to post on 15-square-foot signs the prices of their 50 most frequently provided services. Those that don’t face fines of up to $1,000 a day until they comply.

Corcoran sees the law as a first step toward making the often-mysterious and varied prices of health care services more available to patients. It comes at a time when patients are paying a greater share of their health costs, either because they are uninsured or are covered by high-deductible plans. That’s the kind of insurance Corcoran had as the owner of a small business, before he was elected to the state House last fall.

“When you’re paying the first $10,000 out of pocket, the first thing you ask is, what’s the cost?” he said.

Many doctors, however, say that health care pricing is too complex for fast-food-style pricing. With thousands of billing codes and so many ways to pay, including cash, private insurance and government programs such as Medicare and Medicaid, posting a single price could be more misleading than helpful.

“It’s very well-intentioned,” said Rep. Ronald Renuart, R-Ponte Vedra Beach, who’s a physician. “But the law isn’t as straightforward as it seems.”

Corcoran argues that such price transparency already exists in the state, at private urgent-care clinics like Solantic, a chain previously owned by Florida Gov. Rick Scott, and MedExpress, which has several locations in the Tampa Bay area. So he crafted legislation based largely on what those clinics have been doing.

The posted prices will apply only to patients who are paying cash for services, not those using insurance. The law applies to urgent-care clinics, but not facilities such as hospital emergency rooms. Individual primary care physicians aren’t required to post prices, but if they do so voluntarily, they don’t have to pay license fees and fulfill continuing medical education requirements for a period of time.

• • •

The law has drawn a mixed reaction. Consumer and business groups such as Florida Public Interest Research Group and Associated Industries of Florida supported the legislation.

But doctors have been less enthusiastic. When details were presented at a recent meeting of the Pinellas County Medical Association, the news was greeted with a collective groan. Doctors wanted to know more about the requirements and which types of practices they applied to.

Renuart says there are good reasons for their concern.

It’s still unclear exactly which clinics must comply. Besides urgent care centers, there’s still a question of whether any clinic that accepts walk-in patients must post prices as well. Corcoran said the state Agency for Health Care Administration is in the process of determining that.

Renuart said that the prices could create confusion because they only apply to patients who pay by cash or debit or credit cards. He said the majority of patients at many clinics are covered by some type of insurance.

He also offered this possibility: that seeing the prices might give some patients sticker shock. “You don’t want to drive away patients who need care,” Renuart said.

Further, he said waiving continuing medical education requirements could be no incentive at all, since many physicians need to meet them to remain board certified. These courses help physicians stay on top of new information about medications and treatments that benefit patients, he noted.

Both Renuart and Corcoran expect that the number of primary care physicians who post their prices voluntarily will be low. Renuart, who works for Baptist Primary Care, a large physician network covering northeast Florida and Southern Georgia, said he isn’t likely to do so.

• • •

Urgent care clinic operators around Tampa Bay have been working to meet the Friday deadline. Among them are Morton Plant Mease, which has clinics in Trinity and Largo, and Bayfront Medical Center, which has six clinics in Pinellas County.

Morton Plant’s clinics will include prices for a standard office visit, X-rays, vaccines, school physicals and laboratory tests, said Kevin Corrigan, chief operating officer of Morton Plant Mease Primary Care. He said the list may change quarterly, based on the most frequently provided services.

Bayfront clinics will go beyond the required 50 services and list about 90 of them, said Phil Powell, executive director of the clinics. He said part of the reason is that Bayfront officials believe their prices are competitive with what other clinics charge.

“I think any time consumers get more information, it’s going to be a good thing,” he said.

Among the prices patients are likely to see at Bayfront’s clinics: school physicals ($30); routine office visit ($75); chest X-ray ($130).

The clinic also has a flat rate of $17 for any medication it dispenses. “Patients may be able to get it for less or more elsewhere, but we make it simple,” Powell said.

Corcoran would like to expand the pricing requirement to more physicians and clinics in the future. He added that lawmakers in Oklahoma have contacted him, interested in passing a similar bill there.

“I see it as a first step toward creating a real free market in health care, where you have the greatest quality of care at the lowest cost to the consumer,” he said.

The CIA organised a fake vaccination programme in the town where it believed Osama bin Laden was hiding in an elaborate attempt to obtain DNA from the fugitive al-Qaida leader’s family, a Guardian investigation has found.

As part of extensive preparations for the raid that killed Bin Laden in May, CIA agents recruited a senior Pakistani doctor to organise the vaccine drive in Abbottabad, even starting the “project” in a poorer part of town to make it look more authentic, according to Pakistani and US officials and local residents.

The doctor, Shakil Afridi, has since been arrested by the Inter-Services Intelligence agency (ISI) for co-operating with American intelligence agents.

Relations between Washington and Islamabad, already severely strained by the Bin Laden operation, have deteriorated considerably since then. The doctor’s arrest has exacerbated these tensions. The US is understood to be concerned for the doctor’s safety, and is thought to have intervened on his behalf.

The vaccination plan was conceived after American intelligence officers tracked an al-Qaida courier, known as Abu Ahmad al-Kuwaiti, to what turned out to be Bin Laden’s Abbottabad compound last summer. The agency monitored the compound by satellite and surveillance from a local CIA safe house in Abbottabad, but wanted confirmation that Bin Laden was there before mounting a risky operation inside another country.

DNA from any of the Bin Laden children in the compound could be compared with a sample from his sister, who died in Boston in 2010, to provide evidence that the family was present.

So agents approached Afridi, the health official in charge of Khyber, part of the tribal area that runs along the Afghan border.

The doctor went to Abbottabad in March, saying he had procured funds to give free vaccinations for hepatitis B. Bypassing the management of the Abbottabad health services, he paid generous sums to low-ranking local government health workers, who took part in the operation without knowing about the connection to Bin Laden. Health visitors in the area were among the few people who had gained access to the Bin Laden compound in the past, administering polio drops to some of the children.

Afridi had posters for the vaccination programme put up around Abbottabad, featuring a vaccine made by Amson, a medicine manufacturer based on the outskirts of Islamabad.

In March health workers administered the vaccine in a poor neighbourhood on the edge of Abbottabad called Nawa Sher. The hepatitis B vaccine is usually given in three doses, the second a month after the first. But in April, instead of administering the second dose in Nawa Sher, the doctor returned to Abbottabad and moved the nurses on to Bilal Town, the suburb where Bin Laden lived.

It is not known exactly how the doctor hoped to get DNA from the vaccinations, although nurses could have been trained to withdraw some blood in the needle after administrating the drug.

“The whole thing was totally irregular,” said one Pakistani official. “Bilal Town is a well-to-do area. Why would you choose that place to give free vaccines? And what is the official surgeon of Khyber doing working in Abbottabad?”

A nurse known as Bakhto, whose full name is Mukhtar Bibi, managed to gain entry to the Bin Laden compound to administer the vaccines. According to several sources, the doctor, who waited outside, told her to take in a handbag that was fitted with an electronic device. It is not clear what the device was, or whether she left it behind. It is also not known whether the CIA managed to obtain any Bin Laden DNA, although one source suggested the operation did not succeed.

Mukhtar Bibi, who was unaware of the real purpose of the vaccination campaign, would not comment on the programme.

Pakistani intelligence became aware of the doctor’s activities during the investigation into the US raid in which Bin Laden was killed on the top floor of the Abbottabad house. Islamabad refused to comment officially on Afridi’s arrest, but one senior official said: “Wouldn’t any country detain people for working for a foreign spy service?”

The doctor is one of several people suspected of helping the CIA to have been arrested by the ISI, but he is thought to be the only one still in custody.

Pakistan is furious over being kept in the dark about the raid, and the US is angry that the Pakistani investigation appears more focused on finding out how the CIA was able to track down the al-Qaida leader than on how Bin Laden was able to live in Abbottabad for five years.

Over the weekend, relations were pummelled further when the US announced that it would cut $800m (£500m) worth of military aid as punishment for Pakistan’s perceived lack of co-operation in the anti-terror fight. William Daley, the White House chief of staff, went on US television on Sunday to say: “Obviously, there’s still a lot of pain that the political system in Pakistan is feeling by virtue of the raid that we did to get Osama bin Laden, something the president felt strongly about and we have no regrets over.”

The CIA refused to comment on the vaccination plot.

Neither Bishop’s sister, a longtime advocate for her (who works in the justice system) whom a court years earlier declined to make Bishop’s legal guardian, nor Bishop’s daughter were informed of her condition during her extended stay in New Hampshire’s state hospital — nor were they told when she was discharged. Instead, a fantasy relationship that Bishop had for years in her head, with no contact with the man, was her plan for support, even marriage, upon leaving the hospital.

The story of Linda Bishop’s multiple psychiatric hospitalizations, her misdemeanor (non-violent) offenses and time in jail, her abandonment of her teenage daughter, her assertion that she was not mentally ill and her refusal to follow any treatment plan, the lack of evidence that she could care for herself, and the self-imposed distance from her family was all too familiar to me and my colleagues working in public mental health, even if the details of her situation may vary in some ways from others. Recognized experts (and longtime colleagues) Drs. Tom Gutheil and Paul Appelbaum in 1979 (!) aptly called this type of tragedy “rotting with their rights on.”

Our laws stipulate that Bishop had to consent to provide information to her family, which she did not. Privacy violations would have been the consequence of the hospital contacting her family during the hospital stay or at the time of discharge. Bishop’s “right” to live where (and how) she wanted derives from legal rulings that stipulate a person’s right to live in what is called “the least restrictive setting.”

The letter of the law had been met. And the patient died.

Arguments have been made on the polar extremes of this dilemma. On one side are patient rights advocates who are stalwart about privacy and self-determination. In fact, legal organizations are present to defend these rights in state hospitals throughout this country. Considerable legal rulings now protect individuals from involuntary hospitalization and involuntary treatment by requiring court action to achieve both, with the exception of emergency situations. On the other side are advocates calling for increasing commitments of people with serious mental illness, including outpatient commitment (and requiring that those committed take psychiatric medications for their disorders), and longer hospital stays.

Never having been one for extremes, except maybe when it came to my playing sports, I believe there are viable middle grounds — even if difficult to reach.

For example, nine years ago the first Mental Health Court was established in New York City, under the remarkable (and continued) leadership of Judge Matthew D’Emic. There are now seven such courts in NYC, about 25 in New York State and approximately 200 around the country (not counting drug and domestic violence courts). A mental health court accepts referrals from other courts where there appears to be a mental illness complicating the crime. Court mental health specialists evaluate the person for a mental illness, and if present, the defendant can plead guilty (in New York State) and be “sentenced” to court ordered treatment under the supervision of the judge; other states may divert the person from jail, have charges held in abeyance pending completion of the treatment program, or other procedures according to local statute. This form of supervised treatment is typically for a year (the maximum sentence for a misdemeanor). More recently, there are mental health courts working with felons where the court ordered treatment can go on for years.

For example, outpatient commitment already exists in almost every state (this has been the case in New York State for over 10 years, instituted after Kendra Webdale was pushed before an oncoming subway train by a man with a psychotic illness). The law, Kendra’s Law, has been renewed twice, each time for five years. We don’t need more outpatient commitment (though some state statutes warrant updating); we need more outpatient treatment that works.

Which brings me to my main point: outpatient mental health services in this country don’t work very well, despite the dedicated people who work for them. The result is that early intervention and the provision of comprehensive, continuous, proven (evidence-based) treatments is being delivered to less than 20 percent (!) of people who need it. That means more than four out of five people are not getting what they need for their illness and recovery. Lack of good care coupled with lack of housing are the principal drivers for the clinical deterioration, chronic homelessness, use of jails and prisons as institutions to contain people with mental disorders, and suicidal and violent behaviors among those who are mentally ill. This country is in need of a mental health overhaul, as candidly portrayed in the President’s New Freedom Commission on Mental Health (December 2002; disclosure: the Commission’s chair was Michael Hogan, Ph.D., now Mental Health Commissioner for the state of New York, and my boss).

Mental health has treatments that work. It has mission-oriented professionals and provider organizations. But it lacks organization, accountability and financing that pays for what is accomplished rather than what is simply done. Sounds familiar? That’s because mental health care is part of health care, where the same issues apply in capital letters.

As this country grinds its way to a more responsive, and hopefully affordable, health care system, what can be done now? For one, mental health clinics can be held to specific standards of care and their licenses made dependent on delivering those standards. Measurement-based care can be introduced (and required) where improvement from mental illness is tracked just like we track blood pressure, blood sugar and lipids. Incremental financing reforms can better support evidence-based practices as well as outreach and engagement of those hardest to reach and retain in care. People in recovery from mental illness (called peers or consumers) can be made a part of the public mental health system so they serve as navigators and trusted persons for those wary of mental health care. And no one stands a decent chance of getting better from a serious mental illness without safe and reliable housing with access to quality health and mental health services.

Indifference is cruel and costly. We can make a difference. People can have their rights and their lives — and their families, too. That’s what health care, including mental health care, is really all about.

The opinions expressed herein are solely my own as a psychiatrist and public health advocate.

I receive no support from any pharmaceutical or device company.

In the case of Vermont’s Pharmaceutical Confidentiality Law, which is being challenged by three medical data mining companies and PhRMA, legislators used language in their bill to say they were trying to correct a perceived “imbalance” in the “marketplace of ideas.”

However, some justices questioned whether the goal of the law was instead aimed at lowering drug costs by restricting the transfer of information from brand name pharmaceutical companies while placing no similar restrictions on the state, insurance companies and others who favour the increased use of generic drugs. “You want to lower your health care costs, not by direct regulation, but by restricting the flow of information to the doctors, by censoring what they can hear to make sure they don’t have full information, so they will do what you want them to do when it comes to prescribing drugs,” commented Chief Justice John Roberts. Justice Ruth Bader Ginsburg added that “this court has said that you can’t lower the decibel level of one speaker so that another speaker… can be heard better.”

Bridget Asay, of Vermont’s attorney general’s office, argued that the case was less about free speech, and more about the level of control physicians should have over their relationship with patients. While none of the justices directly defended the law, several questioned whether states could enact other measures to protect physician privacy, such as adopting a rule that allows physicians to opt out of their prescribing information being made commercially available or barring pharmacies from selling the data to anybody. Justice Antonin Scalia added that the law didn’t accomplish anything doctors couldn’t do on their own, noting that a physician “could achieve the same objective, could he not, by simply refusing to talk to the marketer?”

The law in Vermont was previously struck down in a 2-1 ruling by a federal appeals court, with the majority ruling that the measure violates the First Amendment because it restricts the speech rights of data miners without directly advancing legitimate state interests, but another appeals court rejected the constitutional challenge and upheld similar laws in Maine and New Hampshire.

The Obama administration and 35 states have voiced their support for Vermont in defending the measure. A final ruling in the case is expected by the end of June.

A team led by David Kaufman of Johns Hopkins University did a random online survey of 1,048 people who had been customers of one of three genetic testing companies — Decode Genetics, Navigenics Inc and 23andMe Inc, which is backed by Google.

Overall, 77 percent of participants said they got tested to improve their health and 58 percent said they learned something new that would improve their health, Kaufman told the American Society of Human Genetics meeting in Washington. Such tests look for genetic predisposition to conditions like diabetes and heart disease.

Direct-to-consumer genetic tests have raised concern among U.S. health regulators who worry people will make health decisions based on inaccurate or inconsistent results.  In July, an undercover probe by the Government Accountability Office showed people who sent off their saliva to DTC testing companies might get a different answer to the same genetic question, depending on which company they used.

A U.S. Food and Drug Administration official said in July the agency would soon regulate the sale of the tests.

For more than three decades, the FDA has chosen not to regulate simple diagnostic tests developed in individual laboratories. It does regulate tests considered medical devices — tests used to diagnose or prevent disease.

People who try the unregulated direct-to-consumer tests tend to be better-educated and wealthier than the general public and are often motivated by curiosity about their own health and ancestry, the researchers found.

Testing companies say the tests are useful for modifying bad habits that could contribute to future health risks, especially if someone is predisposed to disease.

GENERAL SATISFACTION

According to the survey, more than a third of people said they were being more careful about their diet as a result of getting the tests, 15 percent had changed their medications or diet supplements and 14 percent were exercising more.

Some 88 percent of people said they were generally satisfied with the testing experience, and 90 percent said their curiosity was satisfied.

Most of those surveyed — 88 percent — said their results were easy to understand. Among the remaining 12 percent who did not, half said they were not satisfied with their test results.

To see how well people interpreted their results, the group asked people in the survey to review two test results provided by the companies and asked them questions about them. They found 4 to 7 percent of people got the results wrong.

Kaufman said long-term follow-up of direct-to-consumer testing was needed to evaluate how they affect people’s health.

FDA official Dr. Jeffrey Shuren said in July the agency had been watching DTC testing companies for some time, but grew concerned when Pathway Genomics announced a pact with Walgreen Co in April to distribute its tests through its 6,000 neighborhood pharmacies.

Pathway has since stopped selling its tests to consumers.

(Editing by Peter Cooney)

To the team’s knowledge, it is the first to ask research participants’ opinions about the need for informed consent for sharing their own information. The team explored participants’ preferences while collaborating on the Electronic Medical Records and Genomics (eMERGE) Network. The Network involves volunteers enrolled in the joint Group Health-UW Adult Changes in Thought (ACT) study. ACT is a longitudinal cohort study that tracks aging-related changes in thousands of older Group Health patients over time.

When the team asked Group Health patients who participate in ACT whether their “de-identified” (anonymous) genetic and medical record information could be shared in the database, 86 percent said yes. Then the team surveyed 365 ACT study participants who had agreed to let their genetic information be shared, mostly because of a “desire to help others.” In the survey, 90 percent of participants said they thought it was important to have been asked for this reconsent.

Reconsent means getting additional informed consent from research participants before using their information for a purpose beyond what they agreed to originally. Alternatives to reconsent — including opting out, being notified, or neither individual permission nor notification — were unacceptable to 40 percent, 67 percent, and 70 percent of the surveyed participants, respectively.

“We were surprised that so many people felt it was important for us to ask them, even though they decided to give their consent,” said lead author Evette Ludman, PhD, a senior research associate at Group Health Research Institute. “This indicates that even if most of a study’s participants would agree to data sharing, it’s still crucial to ask them.”

Since 2008, the National Institutes of Health (NIH) has strongly encouraged many studies to submit genetic information to the federal database of Genotypes and Phenotypes (dbGaP). The reason is that genomic research on large numbers of people can yield insights that aren’t possible with smaller numbers.

For new studies that will enroll participants prospectively, informed consent can — and should — address such sharing. But sharing genetic data raises ethical questions for longitudinal cohort studies, including ACT, which started long before dbGaP was established in 2006. Few existing informed consents address data sharing through this new mechanism. Ideally, Dr. Ludman suggested, research grants would include funding and time to pursue reconsent. In this study, it cost around $50 for each participant who was asked.

“Trust is a two-way street, and human research requires lots of trust,” Dr. Ludman said. “People have an understandable feeling of ownership over their bodies and medical records, including their genetic information,” she added. “Researchers show we’re worthy of trust when we ask research participants for permission to use their information in a way that they haven’t already agreed to.”

Recent high-profile legal cases have highlighted the issue of consent and trust in research, including the Havasupai tribe vs. Arizona State University and parents vs. the Texas health department over storing newborn blood samples without parental consent. So too has the bestselling book, The Immortal Life of Henrietta Lacks, about the history surrounding the HeLa cell line, the world’s most widely grown human cells.

With funding from the National Human Genome Research Institute (NHGRI), Dr. Ludman’s co-authors were Research Associate Leslie Spangler, VMD, PhD, Executive Director Eric B. Larson, MD, MPH, and Project Manager Monica M. Fujii, MPH, of Group Health Research Institute; Wylie Burke, MD, PhD, UW professor and chair of bioethics & humanities and affiliate investigator at Group Health Research Institute; and Gail Jarvik, MD, PhD, UW professor of medicine and head of the division of medical genetics, Stephanie M. Fullerton, PhD, UW assistant professor of bioethics & humanities, and Susan Brown Trinidad, MA, UW research scientist in bioethics & humanities.

The eMERGE Network

The Electronic Medical Records and Genomics (eMERGE) Network is a national consortium formed to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. The Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country: Group Health Cooperative with the UW; Marshfield Clinic; Mayo Clinic; Northwestern University; and Vanderbilt University.

Group Health Research Institute

Founded in 1947, Group Health Cooperative is a Seattle-based, consumer-governed, nonprofit health care system. Group Health Research Institute changed its name from Group Health Center for Health Studies on September 8, 2009. Since 1983, the Institute has conducted nonproprietary public-interest research on preventing, diagnosing, and treating major health problems. Government and private research grants provide its main funding.

UW Medicine

The UW Medicine health system includes UW Medical Center, Harborview Medical Center, Northwest Hospital, the UW School of Medicine, UW Medicine Neighborhood Clinics, UW Physicians, Airlift Northwest, and the UW’s partnership in the Seattle Cancer Care Alliance with Seattle Children’s and Fred Hutchinson Cancer Research Center. UW Medicine has major academic and service affiliations with Seattle Children’s Hospital, Fred Hutchinson Cancer Research Center, and the Veterans Affairs Puget Sound Health Care System in Seattle and the VA Hospital in Boise. The UW School of Medicine is the top public institution for biomedical research in funding received from the National Institutes of Health. For more information about UW Medicine, visit www.uwmedicine.org.

Members of the tiny, isolated tribe had given DNA samples to university researchers starting in 1990, in the hope that they might provide genetic clues to the tribe’s devastating rate of diabetes. But they learned that their blood samples had been used to study many other things, including mental illness and theories of the tribe’s geographical origins that contradict their traditional stories.

The geneticist responsible for the research has said that she had obtained permission for wider-ranging genetic studies.

Acknowledging a desire to “remedy the wrong that was done,” the university’s Board of Regents on Tuesday agreed to pay $700,000 to 41 of the tribe’s members, return the blood samples and provide other forms of assistance to the impoverished Havasupai — a settlement that legal experts said was significant because it implied that the rights of research subjects can be violated when they are not fully informed about how their DNA might be used.

The case raised the question of whether scientists had taken advantage of a vulnerable population, and it created an image problem for a university eager to cast itself as a center for American Indian studies.

But genetics experts and civil rights advocates say it may also fuel a growing debate over researchers’ responsibility to communicate the range of personal information that can be gleaned from DNA at a time when it is being collected on an ever-greater scale for research and routine medical care.

“I’m not against scientific research,” said Carletta Tilousi, 39, a member of the Havasupai tribal council. “I just want it to be done right. They used our blood for all these studies, people got degrees and grants, and they never asked our permission.”

Researchers and institutions that receive federal funds are required to receive “informed consent” from subjects, ensuring that they understand the risks and benefits before they participate. But such protections were designed primarily for research that carried physical risks, like experimental drug trials or surgery. When it comes to mining DNA, the rules — and the risks — are murkier.

Is it necessary, for instance, to ask someone who has donated DNA for research on heart disease if that DNA can be used for Alzheimer’s or addiction research?

Many scientists say no, arguing that the potential benefit from unencumbered biomedical research trumps the value of individual control.

“Everyone wants to be open and transparent,” said Dr. David Karp, an associate professor of internal medicine at the University of Texas Southwestern Medical Center in Dallas, who has studied informed consent for DNA research. “The question is, how far do you have to go? Do you have to create some massive database of people’s wishes for their DNA specimens?”

The Havasupai settlement appears to be the first payment to individuals who said their DNA was misused, several legal experts said, and came after the university spent $1.7 million fighting lawsuits by tribe members.

Even as the Havasupai prepared to reclaim the 151 remaining blood samples from a university freezer this week, Therese Markow, the geneticist, defended her actions as ethical. Those judging her otherwise, she suggested, failed to understand the fundamental nature of genetic research, where progress often occurs from studies that do not appear to bear directly on a particular disease.

“I was doing good science,” Dr. Markow, now a professor at the University of California, San Diego, said in a telephone interview.

Edmond Tilousi, 56, a cousin of Carletta Tilousi and the tribe’s vice chairman, can climb the eight miles from his village on the floor of the western Grand Canyon to the rim in three hours, when he is in a rush. Horse or helicopter are the other ways out, and Mr. Tilousi is increasingly rare among the tribe’s members in his ability to make the hike. Beginning in the 1960s, an extraordinarily high incidence of Type 2 diabetes led to amputations, even among the younger members, and forced many to leave the canyon for dialysis.

In late 1989, Mr. Tilousi’s uncle Rex Tilousi approached John Martin, an Arizona State University anthropologist who had gained the tribe’s trust, to ask if he knew a doctor who could help. “I asked him, ‘How can we prevent this from spreading?’ ” the elder Mr. Tilousi recalled.

Professor Martin approached Dr. Markow. A link had recently been reported between a genetic variant and the high rate of diabetes among Pima Indians. If a similar link was found among the Havasupai, it might point to an important risk factor.

The two professors received money from the university to study diabetes in the tribe. Dr. Markow was interested in schizophrenia research as well, and in the summer of 1990, with a grant from the National Alliance for Research on Schizophrenia and Depression, she and her graduate students began collecting blood samples in Supai. Women here remember being happy to see her in those days, an athletic figure who talked to them about how to be more healthy. Working out of the health clinic in the center of the village, Dr. Markow recruited tribe members to ask others to give blood.

“I went and told people, if they have their blood taken, it would help them,” said Floranda Uqualla, 46, whose parents and grandparents suffered from diabetes. “And we might get a cure so that our people won’t have to leave our canyon.” Roughly 100 tribe members who gave blood from 1990 to 1994 signed a broad consent that said the research was to “study the causes of behavioral/medical disorders.”

The consent form was purposely simple, Dr. Markow said, given that English was a second language for many Havasupai, and few of the tribe’s 650 members had graduated from high school. They were always given the opportunity to ask questions, she said, and students were also instructed to explain the project and get written and verbal consent from donors.

Dr. Markow examined several genes that were thought to have medical relevance, including for schizophrenia, metabolic disorders and alcoholism, she said, but found little to pursue. The Havasupai did not, it turned out, share the gene variant linked to diabetes in the Pima.

But a few years later, a graduate student using new technology came up with a way to discern variations in the Havasupai DNA, which was stored in a university freezer, and he wrote a dissertation based on his research.

Carletta Tilousi, one of the few Havasupai to attend college, stopped by Professor Martin’s office one day in 2003, and he invited her to the student’s doctoral presentation.

Ms. Tilousi understood little of the technical aspect, but what she heard bore no resemblance to the diabetes research she had pictured when she had given her own blood sample years earlier.

“Did you have permission,” she asked during the question period, “to use Havasupai blood for your research?”

The presentation was halted. Dr. Markow and the other members of the doctoral committee asked the student to redact that chapter from his dissertation.

But months later, tribe members learned more about the research when a university investigation discovered two dozen published articles based on the blood samples that Dr. Markow had collected. One reported a high degree of inbreeding, a measure that can correspond with a higher susceptibility to disease.

Ms. Tilousi found that offensive. “We say if you do that, a close relative of yours will die,” she said.

Another article, suggesting that the tribe’s ancestors had crossed the frozen Bering Sea to arrive in North America, flew in the face of the tribe’s traditional stories that it had originated in the canyon and was assigned to be its guardian.

Listening to the investigators, Ms. Tilousi felt a surge of anger, she recalled. But in Supai, the initial reaction was more of hurt. Though some Havasupai knew already that their ancestors most likely came from Asia, “when people tell us, ‘No, this is not where you are from,’ and your own blood says so — it is confusing to us,” Rex Tilousi said. “It hurts the elders who have been telling these stories to our grandchildren.”

Others questioned whether they could have unwittingly contributed to research that could threaten the tribe’s rights to its land. “Our coming from the canyon, that is the basis of our sovereign rights,” said Edmond Tilousi, the tribe’s vice chairman.

Many members are still suffering from diabetes and say they were never told if researchers had learned anything that could help them. The classes on nutrition that Dr. Markow had sponsored with grant money have since petered out.

Ms. Uqualla, who had recruited blood donors, said she felt shamed by the news that it had been used for research that could potentially damage the tribe. “I let my people down,” she said.

The money from the settlement will be divided among the 41 tribe members. Ms. Uqualla, for one, hopes to buy a horse trailer.

But Stephen F. Hanlon, a lawyer who has represented the tribe members without charge, said the resources the university agreed to provide, including scholarships and assistance in obtaining federal funds for projects like a new health clinic, had the potential to transform the tribal village at the bottom of one of the world’s most famous natural wonders.

On Tuesday, Ms. Tilousi cried as a university official unlocked the freezer in the nondescript storage room in the Tempe campus where the blood samples had long been stored. Wearing protective glasses, gloves and a lab coat, she and a delegation of tribal members sang in Havasupai as they saw the blood that had been taken from them and from their relatives, now dead.

On the box inside the freezer was scrawled the name, “Markow.”

[Newsweek] The unsettling story of Henrietta Lacks begins with an everyday occurrence: a trip to the doctor’s office. The 30-year-old African-American’s 1951 diagnosis of cervical cancer would change her life, and the damaged cells taken from her body without permission would alter the course of medical history. At a time when health-care reform is a key concern for the White House and millions of Americans, Lacks’s story is a potent reminder of the injustices that were perpetrated by the health-care industry on the poor and uneducated not long ago. 

Raised by her grandfather on a tobacco farm in Virginia, Henrietta Lacks was the granddaughter of slaves. She gave birth to her first child at 14 and later married the father of the baby, who happened to be her first cousin—not uncommon at the time. Shortly after Henrietta turned 30, she felt a knot in her lower stomach that she knew meant something was wrong. But with a husband and a house full of kids to take care of, Lacks could ill afford to worry for long; her family also had little money for a doctor’s visit, and at the time, many hospitals offered African-American patients substandard treatment.

Months later, after the birth of her fifth child, the knot was still there, so Lacks finally asked her husband to drive her to Johns Hopkins hospital, the only medical facility nearby that saw “colored people” for free. There, the doctors diagnosed Lacks with stage I epidermoid carcinoma of the cervix, which would require her to have radiation treatments a few times a month. During her first two-night stay in the hospital, doctors sliced several pieces of tissue from her cancerous tumor and placed them in a dish in the hopes of growing and studying them. Neither Lacks nor her family gave permission for her cells to be taken.

George Gey, then the head of tissue-culture research at Johns Hopkins, had been trying to grow malignant cells outside the body for nearly three decades, hoping to determine what caused cancer and ultimately how to cure it. Most cells died quickly in the lab, and the few that did survive failed to grow. But Gey was determined to grow the first immortal human cells—a continuously dividing line of cells that all descended from one original sample, cells that would replenish themselves and never die. Lacks’s damaged cells turned out to be the answer to his prayers. Her cancer cells grew unlike any the doctor had seen before, doubling in number every 24 hours. Excited by the findings, Gey began to alert his peers that he was sure he’d found the first immortal cells. And then he began sending Lacks’s cell culture, named “HeLa” to avoid using Lacks’s name, to any scientist who was interested in using it for cancer research. He sent the cells to Texas, India, New York, Amsterdam—anywhere researchers might find them useful.

But neither Gey’s excitement nor research helped Henrietta Lacks. Six months after being diagnosed with cancer, she was dead. She was taken back to her hometown of Clover, Va., and buried in a plain wooden box in an unmarked grave. It would be years before her family would realize that her living cells, which survive to this day, had birthed a multimillion-dollar industry selling human biological materials and had contributed to the study of cancer, had helped in developing the polio vaccine, and had allowed scientists to determine the effects of the atom bomb. They also led to important advances in in vitro fertilization, cloning, and gene mapping. HeLa has been bought and sold by millions of researchers in the decades since, likely earning hundreds of millions of dollars for the medical industry. Johns Hopkins maintains it never benefited financially from the sale of the cells.

Neither did the Lacks family. Most of Henrietta’s children died with only limited knowledge of what had actually been done with their mother’s cells, and today few of her grandchildren or other relatives can even afford to have insurance of their own, according to a new book by Rebecca Skloot, The Immortal Life of Henrietta Lacks.

Some 60 years after doctors committed what today would be an unconscionable violation of medical ethics, there’s still only limited information on how often the practice of taking samples without consent was done to patients of poor backgrounds and limited education. But Henrietta Lacks certainly wasn’t the only African-American mistreated by the American medical establishment. Books such as Harriet Washington’s Medical Apartheid  have documented many cases of blatant misuse of medical practices on unknowing and unsuspecting black patients in the name of furthering science and discovering cures.

It might seem as though this kind of disturbing and unethical practice would be limited to another, less-enlightened time, such as the ’30s and ’40s, which is when the granddaddy of all medical injustices, the infamous Tuskegee syphilis study, began. But some evidence uncovered by Washington’s book suggests that black orphan children were used as test subjects as recently as the ’80s in New York: tests to determine the effectiveness of some AIDS treatments were given to the children without adult consent.

In a just world, Henrietta Lacks’s descendants would have health care given to them free for the rest of their lives, like the victims of the Tuskegee study. But instead her case stands as yet another example of the medical establishment’s mistreatment of poor and minority Americans, the aftereffects of which linger to this day.

Find this article at http://www.newsweek.com/id/233671