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

[BBC] A gene mapping test that can test embryos for almost any inherited disease could be available in the UK within a year, say researchers.

Unlike current tests doctors do not need to know the specific gene mutation involved.

At the same time embryos can be tested to check they are generally in good genetic shape.

Experts say there will have to be strict limits on what the test can be used for.

The test – which will cost around £2,500 – uses a technique called karyomapping which looks for the inheritance of sections of DNA or chromosomes.

Rather than knowing the exact gene mutation which is passed down the generations in an family affected by a condition such as cystic fibrosis, doctors can just look for the block of DNA containing a faulty gene.

At the moment genetic testing of embryos is generally limited to a few conditions.

But karyomapping could in theory be used to test for any one of the 15,000 genetic defects known about.

Using the same test doctors could also look at whether any chromosomes are missing or duplicated which suggests the embryo will not be viable.

It would also be far quicker than current tests, taking only three days instead of weeks or months.

Professor Alan Handyside, from London’s Bridge Centre, who developed the test said in the handful of families they had looked at, it had been 100% successful in picking up affected embryos.

US researchers have also run the test in embryos at risk of cystic fibrosis.

In five cases where families had donated embryos to research, they proved the test can pick up cystic fibrosis mutations.

At the same time they found serious chromosome abnormalities suggesting those embryos would not have resulted in successful pregnancy, delegates at the European Society of Human Reproduction and Embryology conference heard.

That could boost the chance of a couple having a successful pregnancy through IVF as well as a baby free from the condition in question.

Ethical issues

The UK team has applied to the Human Fertility and Embryology Authority (HFEA) for a licence.

Clinical trials of the test are due to start by the end of the year.

Regulators will be assessing whether it works and whether it is safe.

But there are also ethical issues to consider.

Ultimately, the test could be used to test for conditions which are not serious or life-threatening – leading to concerns about designer babies.

The HFEA will be able to set conditions on what the test can be used for.

Professor Handyside said one use for the test could be looking for genetic causes of autism which occurs in 5% of cases.

Other likely candidates are Huntington’s disease and spinal muscular atrophy – a condition that can cause death in infancy.

“What we’re mapping is inheritance from the father and the mother across the entire genome.

“The potential criticism of this work is we could find all kinds of changes in the embryo.

“But we wouldn’t get a licence to do this for all conditions.

He added: “We are limited in the number of embryos we can test so something has to be very likely to turn up.”

Professor Tony Rutherford, chair of the British Fertility Society said the test would be more reliable although admitted such technology was opening a “Pandora’s box”.

“The issue here is we may find out a lot of genetic information and how is that going to be used or stored.”

But he said the regulations in the UK on what could be tested for were very strict and would remain so.

“We’re not mad Frankensteins working away in our laboratories to create designer babies.

“We are only allowed to look for major diseases which cause handicaps.”

-Emma Wilkinson

The case was brought on behalf of a 13-year-old girl with fragile X syndrome, a common inherited form of mental retardation.

While the judge dismissed several claims, he allowed others to move forward; the WSJ’s Law Blog hashes out the legal details.

One interesting legal/medical issue is the way state laws differ — the law in New York, where the sperm bank is located, state law provides companies that traffic in human tissue and the like less protection than a similar law in Pennsylvania, where the girl was conceived.

A case report on the girl was published last year in the American Journal of Genetics Part A.

“We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring,” the authors wrote.

Herald Sun readers and people across Australia moved by the plight of Dr Bernhard Moeller and his son, Lukas, have protested. Premier John Brumby yesterday joined the fight, slamming the decision to reject Dr Moeller, the only specialist physician in Horsham, in the state’s west, because of a ruling that the potential long-term costs of caring for his 13-year-old son are too great.

Immigration Minister Chris Evans was under growing pressure last night to find a way to over-rule a decision to reject the doctor’s application for permanent residency.

http://www.heraldsun.news.com.au/

The best way to find that out, some scientists believe, is to put everything out there in the open — each participant’s name, medical history, family history, ancestry, even likes and dislikes — so that links to his or her genome can be established and more effective treatments and drugs can be developed as a result.

“We’re treating people like one size fits all, like anybody can work in an asbestos factory, anybody can eat peanuts, anybody can take this new antibiotic. It’s just not true,” Harvard geneticist George Church, a founder and leader of the PGP and one of the people whose genome will be released Monday, tells the Washington Post.

But privacy advocates and medical-ethics experts don’t like this approach.

“I’m concerned that this could make it seem easy and cool to put your information out there when there is still a lot of stigma associated with certain genetic traits,” Kathy Hudson, head of the Genetics and Public Policy Center at Johns Hopkins University, tells the New York Times. “There will be new uses of this data that people can’t anticipate — and they can’t do anything to get it back.”

Whatever the dilemmas, Church hopes to soon drastically expand the program. He’s asking for 100,000 volunteers who would be willing to give up their privacy in exchange for having their entire genomes sequenced.

• Click here to read the Washington Post story.

• Click here for the New York Times story.

• Click here to volunteer for the Personal Genome Project.

• Click here to visit FOXNews.com’s Natural Science Center.

Beginning in January 2009, state employees will be required to receive medical screenings for several conditions, including body mass index (BMI). Those who are considered obese — along with exhibiting other negative health factors — will have a year to get in shape. The penalty for failure? A $25 increase in their monthly insurance costs.

Although critics view the penalty as a “fat tax,” Alabama officials believe the new policies will result in fitter, healthier, and happier employees — as well as help reduce the state’s mounting health care costs.

“Our goal was to make our members aware of those risk factors,” Deborah Unger, RN, clinical director for the Alabama State Employees Insurance Board in Montgomery, tells WebMD. “As long as you are aware and are doing something to correct it, there won’t be a fee. We either do something to control claims costs or you pay the premium anyway.”

Alabama now ranks as the second most obese state in the U.S., according to the CDC — perhaps a clear sign that change is needed. In addition to BMI, the state will screen three additional criteria: cholesterol, blood pressure, and glucose levels. These four risk factors have consistently resulted in costly treatments for the state.

Opponents of the Obesity Penalty

While the plan might seem practical, some experts question whether paying a fee for being obese is the best motivator for overweight people.

“We certainly wouldn’t support these kinds of punitive measures,” says Jeffrey Levi, PhD, executive director of Trust for America’s Health and associate professor of health policy at George Washington University School of Public Health. “The successful measures by health plans focus on incentives rather than punishment.”

The Alabama requirements, Levi tells WebMD, could be interpreted as a genetic penalty for those who are predisposed to having extra weight or high cholesterol. Some people also require a variety of treatments or medications before finding one that is effective. Making those who fail pay from their pockets also places more economic pressure on them, he says, which could lead them to turn to cheaper, calorie-dense food.

“We need to recognize the complexity of these things,” Levi says. “Just addressing this through the health care system is insufficient. What are we doing about the workplace environment? What’s served in state cafeterias and hospitals? We need to do the voluntary things first for people to be able to make healthy choices before forcing punitive measures.”

Alabama employees at risk will receive some help in their quest. The state is arranging programs with Weight Watchers and offering employees YMCA discounts. Information will also be available at behealthy.com, a Blue Cross-Blue Shield web site that provides online wellness tools and news.

But the prime motivator for this policy is hefty health care costs. And the attitudes of employers and employees may reflect an ambition to help remove obesity from the equation.

A recent survey conducted by the National Opinion Research Center (NORC) at the University of Chicago, partnered on the research with the George Washington University School of Public Health and Health Services, showed that:

• 80% of employees, regardless of weight, believe healthy lifestyles/weight management programs belong in the workplace.
• 67% of employers are concerned about obesity’s effect on medical claims expenses.
• 93% of employers see obesity as a preventable condition and due to poor lifestyle choices.
• Fewer than half of employers believe their company has given enough attention to the problem of obesity.

Christy Ferguson, director of the STOP Obesity Alliance in Washington, D.C., which commissioned the survey, tells WebMD that while employers are eager to promote weight loss, only about a quarter of those surveyed believe financial penalties should be placed on those who have difficulty succeeding.

“While employers and employees favor positive financial incentives, they oppose negative financial penalties,” she says. “There’s a strong support for the carrot, so to speak, and not-so-strong support for the stick.”

Key in all of these programs and findings is that shedding excess pounds is intrinsic to good health. But does thin and trim always equal fit and healthy?

A report released this month by The Archives of Internal Medicine, which weighed cardiometabolic risk factors vs. weight, revealed that among the 5,440 participants — U.S. adults 20 years old and older — 23.5% of “normal weight” adults were metabolically abnormal. Conversely, 51.3% of adults deemed overweight and 31.7% classified as obese were declared “metabolically healthy.”

Lifestyle and activity levels certainly vary between individuals, but the link between weight and health doesn’t appear to be absolute. And unlike many conditions which remain discrete, obesity is on full display.

“I don’t think we can arbitrarily pick out one specific set of people with health risks,” San Francisco internist Ann Haiden, MD, tells WebMD. “There is evidence that fit people with a little excess weight can actually be healthier than unhealthy normal-weight people. What we don’t need is for a policy like this to turn into yet another reason to exclude as many people as possible from the insurance pool.”

Even with a $25 monthly bill, Alabama state workers boast a plum health care plan. Single state employees pay no insurance fees, Unger says, while family plans — which can include a spouse and several children — only cost $180 per month. Spouses and children of state workers will not be subject to the wellness screenings.

Legally, these new protocols could face few serious threats.

Myra Creighton, an Atlanta labor and employment attorney who specializes in health-related issues, says many people are unsympathetic to obese individuals, which could make civil liberties organizations reluctant to pursue opposition. Michigan, she says, is the only state where weight is categorized as a protected class for workers.

Still, she does question certain ethical aspects of these actions.

“Do I have any privacy interests in my body weight?” Creighton says. “I’m just glad my firm doesn’t require me to hop on a scale.”

While the converted are often the most zealous agents for change, one Alabama resident who triumphed against the scale finds the state requirements somewhat troubling.

Enterprise, Ala.-resident Roger Shultz, this year’s runner-up on the NBC TV show The Biggest Loser, nearly cut his formerly obese physique in half while appearing on the show. Shultz, who lost 164 pounds, has kept his 6-foot-3-inch frame at a lean 222 pounds since the show ended. He’s now a spokesman for Scale Back Alabama, a state-sponsored campaign that promotes weight loss and exercise.

Keeping trim in Alabama is sometimes challenging: “We deep-fry everything,” he tells WebMD. But instituting fines for failing doesn’t seem like the right step to him.

“I worked for a state institution and I’d hate to see something monetarily taken away from me,” says, Shultz, who was employed at two Alabama colleges. “We have to be healthy, but I don’t think you should penalize people for being heavy.”
http://www.webmd.com/diet/news/20080825/alabama-obesity-penalty-stirs-debate?page=3