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.

The goal of the new grant program is to build upon and enhance the developments from the Encyclopedia of DNA Elements (ENCODE) Project by stimulating development of novel technologies and to expand the available tool box of methods for identifying and testing these genomic elements.

These grants will fund development of efficient technologies, both experimental and computational, that have the promise to generate revolutionary tools in a number of areas, including, but not limited to high-throughput genome-wide experimental methods for finding functional elements that reduce the cost of genome-wide assays and lower the sample size needed in single cell assays; high-throughput methods for biological validation and characterization, such as functional assays for testing large numbers of sequence-encoded elements and assays to identify physiologically relevant targets; and computational methods for characterizing functional elements, such as ways of integrating functional genomics data to assign elements to biological functions.

Under one of the programs, NHGRI expects to commit up to $5 million in fiscal 2012 to fund between 10 and 14 R21 exploratory/developmental research grants with a total of $275,000 each for two years.

The institute also has committed $750,000 next year to fund up to three awards under its Small Business Innovation Research program for Phase I or Phase II grants.

Another NHGRI program will provide up to $5 million next year to fund 10 to 14 awards for research projects that will last up to three years.

Personal testing, which is mainly available online from firms operating outside traditional medical institutions, can produce ambiguous or misleading results without proper analysis, panel members said.

“I would suggest that we are not ready yet to put this completely in the consumer’s hands,” said panelist Joann Boughman of the American Society of Human Genetics. “Each test is complex, and when you have each provider doing slightly different tests, it complicates it even more.”

For example, a consumer test to determine whether someone is a carrier for cystic fibrosis might not screen for all the genetic permutations that trigger the disease, meaning that a negative result could promote a false sense of security.

“It’s very dangerous to get a false reassurance when you don’t know about environmental and other risk factors,” said panel member George Netto of the Johns Hopkins School of Medicine.

The 21-member panel, predominantly a mix of physicians and academics, did not vote on specific questions during the first day of a two-day hearing that concludes Wednesday. But members expressed general agreement that doctors should be in charge of ordering and interpreting the tests.

The panel’s consensus on new regulations is not binding on the FDA, but the agency usually follows them.

Unlike genetic tests ordered by doctors, which are processed by a laboratory and delivered to the physician for review with the patient, direct-to-consumer testing allows individuals to get genetic information directly from a lab without involving a healthcare provider.

Advocates of testing say it allows consumers to take a better-informed role in their medical care.

“We’re not trying to substitute for a physician — we’re simply providing a service that doesn’t exist otherwise,” said Jeff Gulcher, cofounder of testing company deCODE Genetics Inc. of Reykjavik, Iceland.

Critics argue that personal testing still lacks the precision to be an effective mass-market healthcare tool.

Doubts were fueled in July by a Government Accountability Office report that found that different companies came to different conclusions about the meaning of the same DNA sample.

In one example cited by GAO investigators, four companies evaluating the same DNA reported variously that the person supplying it had a below-average, average and above-average risk for prostate cancer and hypertension.

Direct-to-consumer tests have been available online for several years, but assumed a higher public profile in May when Walgreen Co. announced that it would sell one brand of tests in its drugstores.

That prompted the FDA, which had publicly said little about the tests, to declare that they needed to meet regulatory standards as medical devices.

Walgreen has shelved plans to sell the test in its stores until the regulatory uncertainty is cleared up, a spokesman said.

The archived newborn blood, which comes from a poke in the heel a day or two after birth, can be used to study public health issues, research the causes of disease and ultimately could lead to prevention and early detection of illness, officials said today.

In a recent study published in Pathology International, researchers detected about 9,000 activated genes in blood spots that were six months to three years old. That’s three times as many as they were able to detect when they first attempted to get genetic information from blood spots in 2008.

The new testing method provides access to a valuable resource, said Dr. Jim Resau, distinguished scientific investigator at VARI.

“It opens doors to examine risk factors and potentially diagnose diseases before the clinical features are present,” he said. “One such disease might be cerebral palsy, which currently can’t be diagnosed until a child is nearly 2. The information could also be used to study pediatric cancers such as neuroblastoma, which is known to be present at birth in many cases.”

The testing was done as part of a study conducted with Dr. Nigel Paneth, a professor at Michigan State University College of Human Medicine.

The test looks for the presence of messenger ribonucleic acid (mRNA), which signals which genes are active. Messenger RNA is “not gene structure, it’s gene function,” Paneth said.

Seeing which genes were activated at the time the blood was drawn gives clues to what was happening before and during birth. Researchers can use that information to look into causes and, ultimately, prevention for various diseases, he said.

Because the state archives blood spots for more than 20 years, the next step is to test samples from various periods, researchers said.

E-mail Sue Thoms: sthoms@grpress.com

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)

The project, named Human Heredity and Health in Africa or “H3Africa,” will use genetic techniques developed in the West to explore the roots of human life among populations that carry the world’s oldest and most diverse sets of genes.

Founders of the plan say that 10 years after the first full human genome was mapped, what scientists can learn about genetic variation and disease in Africa will have global relevance.

“Africa is the cradle of humanity, so things that we learn in Africa will undoubtedly have broad implications for peoples in all other parts of the planet,” said Francis Collins, director of the U.S. National Institutes of Health (NIH).

But the idea is also to free Africa from what some describe as “scientific colonialism,” and to try to halt a brain drain of researchers who have tended to leave the continent to study the ups and downs of its health from afar.

Bongani Mayosi, head of the department of medicine at the University of Cape Town, said the project represents “a very, very important shift in the way science is done in Africa.”

“Up until now, we have been operating almost in a colonial mode of doing science, where people from outside Africa have been coming to collect samples, and then processing them and publishing their papers outside Africa,” Mayosi said at a briefing in London to explain the project.

“What is different about this initiative is that it seeks to do science in Africa, by Africans and for Africans.”

HUGE NEED, BUT LITTLE CAPACITY

With $25 million from the NIH and $12 million from the London-based global charity the Wellcome Trust, H3Africa plans to build expertise in countries where it is much needed but sorely lacking, so that African scientists can in future conduct large, robust scientific studies on their own people.

Researchers will help set up ‘biobanks’ to collect DNA and medical information from hundreds of thousands of African people so that scientists can study links between genes and disease.

They also hope to set up or build on local research centers and use genome-wide scanning and sequencing technologies to find genetic change that may contribute to specific illnesses.

Some studies will focus on the role genes play in Africa’s biggest killer diseases — malaria, tuberculosis and HIV/AIDS — while others will look at conditions like high blood pressure, heart disease and stroke, all of which are becoming widespread in African populations.

Despite the huge burden of infectious disease that it carries, Africa lags the rest of the world in health research: a report from Thomson Reuters in April found its contribution to the global body of scientific research is very small and does little to benefit its own populations.

It said Africa suffers from a “hemorrhage of talent,” with many of its best brains leaving to study abroad.

LARGELY IGNORED, UNTIL NOW

Speaking in a week when scientists are marking the 10th anniversary of the publication of the first draft of the human genome, Charles Rotimi, president of the African Society of Human Genetics, said his continent had been largely ignored by the genetic revolution.

In the U.S., Europe and Asia, ever faster gene sequencing tools have enabled scientists to begin to untangle the genetic roots of many major diseases and explore their links and interactions with environment and lifestyle factors like diet.

Genome-wide association studies, which scan gene maps, are an important tool in this work. But of the hundreds of such studies conducted in the past decade, only one, on malaria, was based on African populations — a state of affairs that Rotimi described as “really tragic.”

“It is clear that so far we have not equally applied the tools of genomics,” he said.

“Africa is the trunk and root of human evolutionary history, so what we get from there is going to be equally important to other parts of the world.”

(Editing by Mark Trevelyan)

[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

The United Kingdom Border Agency launched the pilot project in September amid suspicions there might be a large number of asylum applicants lying about their home countries. An agency spokesman said Britain was the only country using genetic tests in this way.

Experts, however, say the tests are based on flawed science and there’s no way genetic swabs can provide meaningful evidence regarding nationality.

Concerned about potential fraud, the Bush administration launched a pilot DNA testing project in 2007 to vet applicants to a program that allows family members of African refugees already in the United States to join them.

The project, which wrapped up in March 2008, found an extremely high rate of fraud — 87 percent — among applicants claiming to be related to each other, the State Department said, and the resettlement program was suspended until those concerns could be addressed. The U.S. does not use genetic tests to try to prove nationality.

Authorities in Britain described the testing as voluntary and said applicants would be asked to provide a mouth swab or hair or nail sample only in cases where questions arise about their nationality and they would be free to decline.

The government argues such tests can provide valuable — although not conclusive — evidence in assessing whether or not asylum seekers are telling the truth about their country of origin.

So far, the tests are being used only on people who claim to be from Somalia, Ethiopia, Eritrea, Kenya, Uganda and Sudan, though if successful, officials say the plan could be rolled out further.

Several experts slammed the effort as “fundamentally flawed science,” and a petition has been sent to Prime Minister Gordon Brown calling for the project to be dismantled.

“Genes are not aware of national borders,” said Sir Alec Jeffreys, a geneticist at the University of Leicester who developed techniques for DNA fingerprinting.

“Nationality is a legal concept, and it’s got nothing to do with genetics at all,” said Jeffreys, adding that the kind of genetic research needed to identify ethnic origins according to DNA in Africa has never been done.

Human rights experts said the voluntary label was misleading.

“If people do not consent to this test, that could jeopardize their application or otherwise be construed negatively,” said Jill Rutter, a spokeswoman for Refugee and Migrant Justice, a London-based legal charity for asylum seekers and migrants.

“Refugees might not be in a position to understand what’s going on and they could be without legal representation when this request is made,” Rutter said. “It puts them in a very vulnerable position and their rights may be infringed upon.”

Refugees may be eligible for asylum in Britain if they can prove they face persecution at home because of their race, religion, political views, sexual orientation, or other factors.

Last year, nearly 26,000 people applied in Britain; of the more than 19,000 cases where decisions were made, 3,725, or 19 percent, were granted asylum. People from more repressive or chaotic countries, like Sudan or Somalia, often have a better chance of gaining asylum than those from more stable countries like Kenya.

In a document describing the project, the Border Agency acknowledges “testing will only provide a clue to the person’s ancestral lineage allowing a probable identification with a particular country.”

The agency had originally planned to use genetic test results as definitive proof of nationality, but scaled that back after scientists protested. A spokesman for the agency said results would only be used in combination with other ways of determining an asylum seeker’s nationality, such as language analysis and interviews, and would not be used to deport anyone.

“We are only trying to establish the efficacy of this approach,” said the official, who spoke on condition of anonymity in line with government policy. The Border Agency expects to test about three samples a week during the 10-month-long project.

The tests will also be used to determine if the children asylum seekers are trying to bring into Britain are actually related to them. In addition to the pilot program in the U.S., such testing on children has also been conducted in France.

Besides genetic tests, British officials are also performing isotope analysis of asylum seekers’ hair and nail samples. Scientists can look at the composition of certain elements like oxygen or strontium in hair and nails to see where a person has been.

But these isotopes are present only so long as the hair and nails have recently been growing, meaning such tests will only give clues into an applicants recent whereabouts.

“I don’t see how hair and nails can be used to tell you anything about (birth) origins,” said Jane Evans, an isotope expert at the National Environment Research Council in Nottingham.

It is possible to get more precise information about a person’s origins using isotopes, but only with a bone or tooth sample, she said.

Britain has been a lightning rod of controversy in the debate over security versus civil liberties.

It has one of the largest DNA databases in the world, with more than 5 million samples collected by authorities to help fight terrorism and crime.

In a landmark decision, the European Court of Human Rights recently ordered Britain to destroy nearly 1 million DNA samples and fingerprints on its database — samples taken from children, people who had never been charged or people acquitted of crimes.

Since terror attacks in the U.S. and Britain, authorities have also used DNA collection as an important counterterrorism tool.

DNA samples taken on battlefields in Afghanistan, Iraq and Pakistan from detainees and suicide bombers have provided clues about terror cell members and how they are linked to global cells, British security officials said.

Samples taken during terror raids in Britain have also allowed investigators to trace suspects to suspects abroad, said the officials, who spoke on condition of anonymity because of the sensitivity of their work.

Experts said that while it is legitimate for the government to try to confirm asylum seekers’ claims, it has to do that in ways compatible with the principles of a democratic society — and with a credible test.

“Genetic testing may be able to tell you where somebody’s ancestors started out, but it doesn’t tell you where they’re from,” said John Harris, a professor of bioethics at Manchester University, who also sits on the government’s Human Genetics Commission.

“It won’t give them anything worth knowing, and it’s very likely that what it will give them is misleading.”

Associated Press writers Paisley Dodds in London and Eileen Sullivan and Matthew Lee in Washington contributed to this report.

Copyright © 2009 The Associated Press. All rights reserved.

Sano, a shortstop roundly considered the best unsigned prospect from the talent-rich Dominican Republic, twice underwent such a procedure to help assess whether he actually is 16 years old — and not 18 or 19, as his major league suitors routinely suspect. He also provided samples of his blood, urine and feces to Major League Baseball investigators so they could assess his DNA and any possible use of performance-enhancing drugs.

“I did everything they asked me to do so they would have no doubts about my age,” Sano said Monday in a telephone interview from his hometown, San Pedro de Macoris.

Baseball officials declined to answer questions Wednesday about the specifics of Sano’s case or their testing of young players in general.

In a written statement Tuesday, baseball said that it used DNA testing in the Dominican Republic “in very rare instances and only on a consensual basis to deal with the identity fraud problem that the league faces in that country.” The statement added that the results of the tests were not used for any other purpose.

Sano is among the Dominican prospects whose ages are being scrutinized in new ways that some people consider necessary, others consider troubling, and the United States has taken steps to outlaw.

Having invested millions of dollars in players who were later found to have lied about their age, baseball and its teams have turned to analyzing DNA to help determine whether prospects are falsifying their identity, and bone scans to assess their age range. The league has defended the practice as a way of protecting its teams, but bioethics experts question whether DNA analysis can be abused.

Federal legislation scheduled to take effect in November prohibits companies based in the United States from asking an employee, a potential employee or a family member of an employee for a sample of his or her DNA. It is unclear whether the law would apply when the tests were performed abroad on the citizen of another country.

“I don’t like the sound of this at all,” said Representative Louise M. Slaughter, Democrat of New York, who first proposed the legislation. “I wrote this law specifically to prevent DNA from being used against employees by employers.”

Results of the Sano tests have not yet been released by baseball. If he is determined to be 16, Sano is expected to have at least a half-dozen serious suitors and to receive contract offers of at least $3 million to sign.

In the interview through an interpreter, Sano said that he underwent several tests in the last three months at the request of the Pittsburgh Pirates — one of the teams pursuing him — and then M.L.B. officials. Messages left with Pirates officials Tuesday were not answered.

Sano said he did not object to the tests. He said his sister Patricia, 17, had undergone the bone scan as well to reassure baseball that she was his older sister, and not a younger sibling whose birth certificate was used to falsify Miguel’s age. He said that his biological parents also had provided samples of their DNA to prove that he was their son.

Sano said that he had not paid for any of the tests. Rob Plummer, Sano’s agent, said that he had paid the fee for the bone scan: 1,000 pesos, or about $28.

“Players are being forced to do the DNA testing — what other choice do they have?” Plummer, based in New York, said in a telephone interview. “If they don’t do it, they’re guilty. If you’re clean, you should want to do it.”

He added: “Unfortunately, the players who have taken advantage of the system have created a situation where’s there’s no trust. As a way to get the facts, measures like this might be necessary to have the players be paid what their skill level warrants. Based upon the number of frauds of identity, at least until there’s a system in the Dominican where identities are 100 percent foolproof, it’s necessary.”

Experts in bioethics and forensic science differ on how necessary such testing can be in baseball and elsewhere.

William C. Thompson, a professor of criminology, law and society at the University of California, Irvine, said that as long as baseball used the genetic information solely to determine a player’s identity, the practice was legitimate.

“Genetic testing is troubling because it kind of gives employers a chance to look into the future and to use that to discriminate against people,” Thompson said. “It seems to me that the specific application that M.L.B. is making of this test does not fall under the traditional category of genetic discrimination — where you’re basing a decision of what will happen in the future with medical problems. Here M.L.B. is identifying an individual as who they say they are.”

He added: “I don’t think that even the most ardent of civil libertarians would say that people should be allowed to misrepresent themselves in contractual negotiations.”

But abuses have occurred, according to Jeremy Gruber, the president of the Council for Responsible Genetics, a policy organization that focuses on social, ethical and environmental implications of genetic technologies.

Gruber said that employers had said they were using blood and other bodily fluids for certain examinations and then used them for others.

He cited a case from earlier this decade in which the Burlington Northern Santa Fe Railway used blood samples derived from worker’s compensation exams to genetically test for predisposition to carpal tunnel syndrome.

“There are many instances where employers have acquired information for one reason and used it for another,” Gruber said. “Dominicans who want to come to the United States and play baseball are particularly going to be susceptible to the privacy and discrimination issues as a means to escape being poor.”

Noting that baseball had acknowledged doing the testing and had defended the practice, Gruber added: “We haven’t seen something quite this widespread, as policy, as we are from Major League Baseball. Genetic information has incredible potential to reveal medical information that can be used for a whole spectrum of purposes that can be discriminatory against the individual. For M.L.B. to be doing this with little to no understanding of ramifications is incredibly short-sighted and against basic employment principles.”

Sano said that the bone test, which he likened to an X-ray, had taken about 30 minutes and had been conducted in a local clinic.

Sano and the coach who has overseen his development, Moreno Tejada, both said that it was their understanding that the blood samples had been sent to a laboratory in the United States for analysis.

“I have all of the qualities to play baseball,” Sano said.

[Technology Review] Genetic tests designed to weed out embryos that are unlikely to grow into healthy babies after in vitro fertilization (IVF) are often administered to couples receiving treatment even though it seems to have little impact on pregnancy rates. A new study involving higher-resolution genetic screening throws the practice into new doubt by showing that most of the cells in even healthy embryos have such chromosomal defects.

Evelyne Vanneste and her colleagues at the Catholic University of Leuven, in Belgium, used new, higher-resolution screening techniques to analyze cells from three- or four-day-old embryos from 23 fertile couples aged less than 35. Embryos are typically analyzed at this stage of development because less mature embryos contain less information, and more developed embryos are more difficult to transfer.

Vanneste and her colleagues found that more than 90 percent of the cells had some chromosomal abnormalities, a finding that goes some way toward explaining why humans have such low fertility rates in general. But it also means that some usable embryos may be discarded following screening.

Preimplantation genetic screening (PGS) usually involves either polymerase chain reaction (PCR), which detects genetic disorders by amplifying a specific chunk of mutated DNA, or fluorescent in-situ hybridization (FISH), which allows chromosomes to be checked for structural flaws against normal chromosomes but cannot screen all chromosomes simultaneously. As a result, chromosomal problems that may prevent a successful pregnancy can be missed.

Vanneste and her colleagues used two newer tools–a SNP array and a BAC array–to look for chromosomal errors across the whole genome. The SNP array can identify variations in short pieces of DNA, while the BAC array can analyze larger chromosome chunks for structural errors. The team studied cells from 23 embryos taken from nine couples with normal fertility that were undergoing IVF treatment to exclude embryos with specific genetic diseases. To the researchers’ surprise, they found that 90 percent of the cells had duplicated or missing chunks of chromosomes. Not only that, but the errors changed in different cells taken from the same embryo.

This suggests that human embryos naturally have high chromosome instability, at least during the first few rounds of cell division. The same has been observed in macaques but not in mice, says Vanneste, and the evolutionary reason for it is not yet clear. “Possibly, instability is a mechanism that can rapidly generate genetic diversity, thus allowing more rapid adaptation to changing environments,” she says.

Vanneste’s results may partly explain humans’ relatively low fertility rate of about 30 percent, but the rate is still much higher than the 10 percent of apparently genetically normal embryos found by her team. This means that many embryos must go on to develop into healthy babies even though their chromosomes have defects at this stage. As the embryo grows, complementary mutations in its cells may compensate for each other, or cells without chromosome defects may preferentially populate the embryo. 

The benefits of preimplantation screening are already hotly debated, since chromosome errors occur frequently in older women who may produce few eggs to begin with which stand a worse chance of successful impregnation following invasive biopsies to remove cells for genetic screening.

“None of us are really normal, so we are actually wasting our time trying to screen for normality,” says Stuart Lavery, a consultant specializing in reproductive medicine at Hammersmith Hospital, in London, U.K. “If you screen hard enough, you will never find a normal embryo.”

Neither Lavery nor Vanneste suggests giving up on IVF screening completely, but they both argue that chromosomes from more or less developed embryos may provide more reliable results because chromosomal instability is not as much of an issue then. “Changing the time point of genomic analysis to either an earlier-stage polar body analysis or to a later stage by blastocyst biopsy might be a better approach towards selecting genetically normal embryos for transfer,” Vanneste says.

Polar bodies are cells left over from the meiotic cell divisions that form the egg that contain only DNA from the mother and therefore cannot show errors from the father or arising after fertilization took place. But the method is gentle on the embryo and chromosomal errors present in polar bodies are carried by all cells of the embryo, providing a strong justification for discarding embryos with errors.

In contrast, the human blastocyst has around 100 cells at five days old, some of which will form the placenta rather than the tissues of the fetus. This permits removal of several cells, which makes genetic analysis easier and includes DNA derived from the father. Chromosomal instability is less pronounced at this stage but until recently, it hasn’t been practical to analyze blastocyst cells because it is much more difficult to transfer them. But newer techniques that involve freezing embryos are making blastocyst analysis followed by later transfer more practical.

Lavery says that polar body analysis might particularly benefit older women with only a few precious eggs left. For younger women, blastocyst biopsies may offer more promising results, he says.

SNP and BAC arrays are still relatively expensive, however. Another, less costly method for analyzing human chromosomes, called comparative genomic hybridization (CGH), is being developed by Elpida Fragouli from the Nuffield Department of Obstetrics and Gynaecology, at the University of Oxford, and Reprogenetics, in the United Kingdom. This approach allows all 23 pairs of human chromosomes from blastocysts to be examined at slightly lower resolution.

With CGH, DNA extracted from the embryo is amplified, labeled green, and mixed with normal reference DNA that has been labeled red. The mixture is then spread onto slides along with metaphase (early stage) chromosomes to which the DNA mix binds. The chromosomes are condensed into distinct shapes, and the ratio of green to red fluorescence along the length of each chromosome indicates whether the embryo’s chromosomes have lost or duplicated noticeable chunks. Preliminary clinical results using the technique on blastocyst embryos have been promising, Fragouli says.

-Nora Schultz