As more hospitals have begun using DNA testing to analyze babies with birth defects, doctors have occasionally discovered that a family’s little bundle of joy is also a product of incest. Since this is a new dilemma brought on by the spread of technology, doctors are now debating how to handle these incest surprises.

Geneticist Arthur Beaudet at Baylor College of Medicine addressed the issue yesterday in an article in the medical journal The Lancet. The genetic test, the single nucleotide polymorphism-based array, helps doctors identify missing genes (and can therefore help explain a child’s birth defect or disability)–but it also identifies swaths of identical DNA that a child may have inherited from two closely related parents.

In the few months that Baylor has been performing these detailed genetic tests, there have been fewer than 10 cases of consanguinity — the phenomenon of inheriting the same gene variations from two closely related people, said Dr. Arthur L. Beaudet, chairman of Baylor’s department of molecular and human genetics. However, wider use of such testing in children with disabilities is expected to identify additional cases of incestuous parentage. [ABC News]

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In its first official report, the Presidential Commission for the Study of Bioethical Issues recommended that the budding field of synthetic biology remain unregulated.

In the report‘s (pdf) 18 recommendations, the commission does suggest that synthetic biologists should self-regulate their work and be required to take ethics training. It also recommends that the president’s office better coordinate government agencies to oversee the work. But it stopped short of calling for a halt on research that creates organisms not found in nature.

“The commission thinks it imprudent either to declare a moratorium on synthetic biology until all risks can be determined and mitigated, or to simply ‘let science rip,’ regardless of the likely risks,” the report says. “The Commission instead proposes a middle ground — an ongoing system of prudent vigilance that carefully monitors, identifies and mitigates potential and realized harms over time.” [The New York Times]

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A neuroscientist who has spoken out in support of animal testing is in the news again after a militant animal rights group sent razor blades and a threatening note to his house. The group claims that the razor blades were contaminated with HIV-infected blood.

The researcher, J. David Jentsch, who studies addiction and schizophrenia at UCLA, explains the incident:

“About a week ago I was going through my mail in my kitchen and I opened a letter and razor blades spilled out on the floor. It was the first sign something was nefarious,” he said. “The letter inside contained quite specific and heinous acts of violence to kill me.” [CNN]

Jentsch made headlines last year when he staged a pro-test rally in support of (humane) animal research after an animal rights group fire-bombed his car in his driveway. The threats and harassment of Jentsch and other department employees have continued, but Jentsch seems undaunted and undeterred.

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Stem cell work will go on. But the shape of its long-term future is a mystery.

A court ruling yesterday that said the federal government can’t fund embryonic stem cell research even if no money goes to destroying embryos has thrown the field into confusion. Today, though, NIH head Francis Collins says that while the government can’t fund new projects (at least until the legal dispute is resolved), researchers in the middle of federally funded projects can continue.

The good news: By combining the DNA of parents with genetic material from a third person, scientists might have developed a way for women with rare genetic disorders to have healthy children. The bad news: The ethical complications involved are so messy that it might be a long time coming.

The researchers outline their work in a study in this week’s Nature. On the surface, the idea is fairly simple. They took the nuclei out of the father’s sperm and the mother’s egg, and transplanted them into a donor’s egg cell that had its nucleus removed, but whose mitochondria remained in the cell’s cytoplasm. What you get is the genetics of both parents, plus the mitochondrial DNA of the host. This technique was pioneered in monkeys last summer, but researchers have now done a proof-of-principle study with human cells.

Mitochondria are often called cellular power plants, because they provide most of the cell’s energy. They also contain their own batch of so-called mitochondrial DNA that can, when mutated, give rise to disease. “What we’ve done is like changing the battery on a laptop,” said lead author Professor Doug Turnbull. “The energy supply now works properly, but none of the information on the hard drive has been changed. A child born using this method would have correctly functioning mitochondria, but in every other respect would get all their genetic information from their father and mother” [BBC News].

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In a far-reaching judgment that could have major implications for the biotech industry, a federal judge in Manhattan has struck down patents related to two human genes linked to hereditary breast and ovarian cancers, BRCA1 and BRCA2.

Myriad Genetics held the patents, and women who want to find out if they have a high genetic risk for these cancers have to get a test sold by Myriad, which costs more than $3,000. Plaintiffs in the case had said Myriad’s monopoly on the test, conferred by the gene patents, kept prices high and prevented women from getting a confirmatory test from another laboratory [The New York Times]. In his decision, United States District Court Judge Robert W. Sweet found that the company’s patents were invalid because the genes are “found in nature,” and products of nature can’t be patented. In essence, he agreed with the plaintiffs’ argument that the genetic code contained in each human being’s cells shouldn’t be private property.

Tuesday’s decision, if upheld, could have wide repercussions for the multi-billion dollar biotech industry, which is built on more than 40,000 gene patents. Already, about 20 percent of the human genes have been patented. The decision, however, is not binding on other federal courts and other judges may or may not abide by it. But it does the set the stage for years of litigation over other gene patents. Myriad Genetics plans to appeal the judgment.

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Last year DISCOVER asked the question, “Did We Mate With Neanderthals, or Did We Murder Them?” Now, Zach Zorich at Archaeology magazine is asking another big question about our hominid siblings: Should we bring them back?

Thanks to a slew of recent advances, the possibility is getting closer. 80beats reported a year ago that researchers had published the rough draft of the Neanderthal genome. However, that’s likely to contain many errors because it’s so difficult to reconstruct ancient DNA. Within hours of death, cells begin to break down in a process called apoptosis. The dying cells release enzymes that chop up DNA into tiny pieces. In a human cell, this means that the entire three-billion-base-pair genome is reduced to fragments about 50 base-pairs long [Archaeology].

Even if scientists succeed in figuring out the entire Neanderthal genome, they’d be faced with another problem before they could even consider the possibility of cloning one of these ancient hominids: We don’t have any living Neanderthal cells to work with. Thus, researchers will have to figure out how to put DNA into chromosomes, and how to get those chromosomes into the nucleus of a cell. What about altering the DNA inside a living human cell, and tweaking our genetic code to match the Neanderthal’s? This kind of genetic engineering can already be done, but very few changes can be made at one time. To clone a Neanderthal, thousands or possibly millions of changes would have to be made to a human cell’s DNA [Archaeology].

Even if scientists manage to put Neanderthal DNA in a cell nucleus, their problems aren’t over. The next step in creating a baby clone is to move the cell nucleus into the egg of a related species in a technique called nuclear transfer, and then implanting the altered egg in a female who can bear it to term. But in this process, which has been extensively tested on animals, cells often get sick or die, causing fetuses to die in the womb or clones to die young. That’s why the vast majority of scientists oppose using this method on people. Even if nuclear transfer cloning could be perfected in humans or Neanderthals, it would likely require a horrifying period of trial and error [Archaeology].

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Don’t let anyone treat you badly because of your genes. As of this weekend, it will be against the law.

The Genetic Information Nondiscrimination Act (GINA) prevents both employers and insurance companies from requiring genetic tests or from using your family’s medical history against you. The biggest change resulting from the law is that it will–except in a few circumstances—prohibit employers and health insurers from asking employees to give their family medical histories. The law also bans group health plans from the common practice of rewarding workers, often with lower premiums or one-time payments, if they give their family medical histories when completing health risk questionnaires [The New York Times]. The law also bars employers from requiring genetic testing or using such information to make decisions on hiring, firing or promoting employees.

To alleviate the privacy concerns of people that have had genetic testing, Congress stepped in and passed GINA last year. The act takes effect Nov. 21 for all employers with 15 or more employees. It applies to group health insurers whose plan years begin on or after Dec. 7, and it took effect for individual health insurance plans last May. The act does not apply to life insurers. The act would ban a company from not promoting a 49-year-old to chief executive because it knew his father and grandfather died of heart attacks at age 50 [The New York Times]. It is still legal for employers to glean information about an employee’s medical history from family obituaries, or to inquire why an employee missed work to care for a sick relative under the Family Medical Leave Act. However, it will now be illegal to use this information to somehow penalize the employee.

Related Content:
DISCOVER: Top 100 Stories of 2008 #29: A New Law Bans Genetic Discrimination
80beats: NYC Uses DNA to Indict Suspects to Be Named Later
80beats: Genetic Testing of African Refugees Raises Outcry From Scientists
80beats: DNA Sampling of Innocent-Until-Proven-Guilty People Is on the Rise

Image: flickr / IRRI Images

In an Italian court, a murderer has just had his sentence reduced because the judge agreed that the man’s genes predisposed him to violent behavior.

Abdelmalek Bayout, an Algerian immigrant to Italy, admitted to stabbing and killing Walter Felipe Novoa Perez, a Colombian, when the two men got in a fight over the kohl eye make-up that Bayout was wearing. At trial, the defense team argued that Bayout was mentally ill at the time of the murder; the judge agreed that his psychiatric condition was a mitigating factor, and gave him a reduced sentence of 9 years. But at an appeal hearing, Bayout’s lawyers argued that his sentence should be shortened further based not just on psychiatric evaluations, but also brain scans and genetic testing.

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The South Korean stem cell scientist who falsified cloning data was convicted today of embezzlement and illegally buying human eggs. The Seoul Central District Court sentenced Hwang Woo-suk to two years in prison for embezzling research funds and illegally buying human eggs. However, it suspended the penalty, allowing him to stay free if he breaks no laws for three years [Washington Post]. The judge stated Hwang has shown remorse and said that despite his fraudulent research the scientist has made other genuine advancements in cloning.

In May 2005, Hwang published a paper in the journal Science, saying his team had extracted material from cloned human embryos that identically matched the DNA of 11 patients. It was claimed such a technique could be the key to providing personalized cures for diseases such as cancer, Alzheimer’s and Parkinson’s [BBC News]. The paper garnered worldwide attention, along with heightened suspicion, because cloning embryonic stem cells was thought to be impossible due to the complexities of human cells. Proving the critics right, an investigation later concluded that the data were intentionally fabricated. Hwang later confessed to obtaining eggs for the research from his female colleagues, a clear violation of research ethics guidelines. However, he maintained that he did not fake his research, and is still working on animal cloning at a local institute.

Related Content:
80beats: Obama’s Guidelines for Stem Cell Research Dodge Controversial Bullets
80beats: Is It Ethical to Pay Women to Donate Eggs for Medical Research?
80beats: Disgraced South Korean Cloning Scientist May Face Jail Time

Image: iStockphoto

For many rape cases, the only leads investigators have to follow are the clues spelled out by a DNA sample. If after years the DNA isn’t matched to a suspect the case goes cold and the victim never has closure. A few years ago, when there was still a statute of limitations for rape in New York City, prosecutors devised a clever way to side-step the ticking clock—they decided to simply indict the DNA profile. Since then, New York City prosecutors have secured 117 indictments of DNA samples in rape cases, linked 18 of those profiles to specific people, and obtained 13 convictions, either through trials or negotiated pleas. Five cases are pending [The New York Times].

Called John Doe DNA indictments, the strategy is also used in a handful of other states to help solve sex crimes, and its success has prompted officials to expand DNA indictments to other types of crimes. In New York, authorities are now collecting more DNA evidence from the scenes of everyday crimes. They hope to use DNA to help solve unsolved crimes from the past that are subject to a statute of limitations, like burglary, robbery or serial car theft [The New York Times]. Opponents of John Doe DNA indictments say the passage of time, along with fading memories and disappearing witnesses, hinders the defendant’s ability to mount a defense, and that old DNA samples are subject to depredation and mishandling. However New York officials counter by saying it’s irresponsible to ignore genetic evidence, especially with modern molecular biology tools.

Related Content:
80beats: DNA Sampling of Innocent-Until-Proven-Guilty People Is on the Rise
80beats: Verdict on Forensic Science: It’s Quite Bad
DISCOVER: Q & A with Eric Juengst—discusses the FBI’s genetic database
DISCOVER: Reasonable Doubt—questions about the forensic infallibility of DNA emerge

Image: flickr / [puamelia]

Scientists in the United Kingdom are outraged over a new program that seeks to determine asylum seekers’ nationalities through DNA and the isotopes present in their hair and fingernails. “Horrifying,” “naïve,” and “flawed” are among the adjectives geneticists and isotope specialists have used to describe the “Human Provenance pilot project,” launched quietly in mid-September by the U.K. Border Agency [Science Insider]. The experts say the tests simply aren’t accurate enough to pinpoint a person’s country of origin.

The program will be tried out on asylum seekers from the Horn of Africa, and will seek to establish whether applicants from Kenya or Ethiopia are masquerading as refugees from war-torn Somalia. Yet scientists say the Border Agency’s goals confuse ancestry or ethnicity with nationality. David Balding, a population geneticist at Imperial College London, notes that “genes don’t respect national borders, as many legitimate citizens are migrants or direct descendants of migrants, and many national borders split ethnic groups” [Science Insider].

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In an attempt to steer organ donation away from organs purchased on the black market or harvested from executed prisoners, China has announced a system to coordinate voluntary organ donation. The details of the new system are still under development, according to Chinese officials.

Although China is far from the only country facing a shortage of donor organs, the number of people who plan to donate is astoundingly low–since 2003, only 130 people have pledged to give up their organs after they pass away. Chinese officials estimate that 1.5 million Chinese need transplants annually but only 10,000 are performed due to donor shortages [The Wall Street Journal]. Of the transplants performed, officials estimate that at least 65 percent use organs from executed prisoners.

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These cute little macaque monkeys may have gotten their fluffy brown fur from their father, their big eyes from their mother, and their good health from… their other mother.

The scientific advance heralded in a new paper in Nature is essentially procedural: Researchers have figured out how to make an embryo that does not carry the mitochondrial DNA of its mother but that of another female instead, which could prevent diseases that are caused by inherited defects in this genetic material. But the study’s immediate impact comes from the ethical questions it raises. “With this you have potentially three genetic parents,” said [bioethics expert] David Magnus…. “This will create the potential for legal and social conflicts.” [Washington Post]. 

While more than 99 percent of an embryo’s DNA comes from the union of a sperm cell with the nucleus inside a female egg, the other 1 percent is found in other structures outside the egg’s nucleus–the mitochondria, the cellular power plants that produce chemical energy. This mitochondrial DNA is inherited only from the mother, but in the new study on rhesus macaques researchers monkeyed with that biological truism.

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The disgraced South Korean researcher whose breakthrough cloning research was exposed as a fraud in 2005 now faces up to four years in prison. Prosecutors asked for the four-year sentence in court today, where the researcher, Hwang Woo-suk, is standing trial for fraud, misusing $2.25 million in state funds, and violating bioethics laws by illegally buying human eggs for his research. “The people’s disappointment was very serious because their expectation for his stem cell research had been high,” an unidentified prosecutor told the courtroom. He said Hwang tarnished South Korea’s image abroad…. Hwang pleaded for leniency, saying if the court forgives him he is ready to “pour the last of my passion” into research [AP].

Hwang became a national hero to South Korea in 2004, when he claimed to have cloned human embryonic stem cells, a feat that was thought to be impossible because of the complexities of human cells. Embryonic stem cells are of great interest to medical researchers because they can develop into any kind of adult cell, and could theoretically be used to replace malfunctioning cells that cause disease. A year later, Hwang said the team created human embryonic stem cells genetically matched to specific patients — a purported breakthrough that promised a way to withstand rejection by a patient’s immune system [AP]. 

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