Personal genomics company 23andMe is in hot water after a stern letter from the US Food and Drug Administration (FDA). The FDA stated that the company's Personal Genome Service - a cheap and user-friendly means of obtaining information about one's genetic data – has not been approved for marketing. Unless the necessary supporting documentation is supplied the product must be taken off the market.
The FDA says that 23andMe has failed to provide evidence that their tests are accurate and reliable: "we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses".
The personal genome service has already been used by hundreds of thousands of people around the world to access their genetic information. Customers provide a saliva sample to the company's laboratories and receive a comprehensive report on their DNA. This includes a list outlining 'probabilities' that they will develop certain diseases, whether they are carriers of an inheritable disease, and even what their ancestry is.
Critics of 23andMe have welcomed the FDA action. Cecile Janssens of Emory University believes that most diseases are not genetic enough to be identified in tests: "genetic testing for common diseases will never become as predictive as champions of genetic testing hope."
Similarly Nathaniel C. Comfort from Johns Hopkins University argued that 23andMe had deliberately oversold human genetics for the sake of profit: "Although 23andMe presents as a concerned company dedicated to the health of their clientele, they are also—and arguably primarily—dedicated to their stockholders."
Duke University bioethicist Nita Farahany defended the company, asserting that they provided accurate information about the meaning of DNA data: "A 23andMe report gives you probabilistic information about your genetic predispositions. It does not offer, nor does it purport to offer, a medical diagnosis of any condition."
The hot water into which 23andme has landed is just one of many simmering controversies about genetic testing. Earlier this year the American College of Medical Genetics released new guidelines about how much of the “incidental” information from a genetic test should be given to patients. This is information gleaned from a test for one genetic condition which is not related to it but which might be relevant to a patient’s health.
For example, a test for hereditary hair loss might reveal that you have a gene strongly correlated with an aggressive cancer. Should the doctor tell you? Do you have a right not to know this information?
The American College of Medical Genetics and Genomics (ACMG) made an abrupt change of policy earlier this year and decided that it would be unethical not to disclose all the incidental findings, even if a patient does not want to know. In other words, the patient’s autonomy comes second.
“We recognize that this may be seen to violate existing ethical norms regarding the patient’s autonomy and ‘right not to know’ genetic risk information,” wrote the authors of the ACMG recommendations. “However … we felt that clinicians and laboratory personnel have a fiduciary duty to prevent harm by warning patients and their families about certain incidental findings and that this principle supersedes concerns about autonomy.”
Is this a big deal? Why shouldn’t patients get as much information as possible?
It is a big deal: a commentary in JAMA declared that it had “profound implications for countless physicians and their patients”. The policy of the ACMG is that every genetic test evaluates 57 genes, so abundant “incidental” information is harvested. One of the flashpoints is how this affects children and adolescents. Previously, genetic counsellors could withhold information about conditions which might affect health – but might not, too. The tests can return false positives and could lead to needless anxiety, expensive and unnecessary screening tests and even prophylactic surgery.
Three prominent American bioethicists wrote in Science that “Starting down the path of unconsented testing and reporting in clinical genomics leads to grave difficulties, and should not be done without more careful analysis.”
Russia has banned all abortion advertising in a bid to address population decline. The new legislation, signed into law by president Vladimir Putin on Monday, is yet another blow to abortion providers. In 2011 the government passed radical legislation that barred abortions after the twelfth week of pregnancy and established a waiting period of at least 48 hours.
The head of the State Duma Committee for Family and Children welcomed the law, saying, "the problems of abortion prevention and the shift in public opinion towards abortion are currently very urgent. Although the number of abortions in Russia is falling, it still exceeds 5 million every year."
Abortion advocates have condemned the government, arguing that the law is part of a campaign to restrict women's reproductive rights. "This is not the beginning of the restriction of women's reproductive rights, but rather the continuation of a process begun in 2011," said women's rights activist Olgerta Kharitonova.
The manufacturer of French morning-after pill NorLevo has announced that the drug is ineffective in women who weigh more than 80 kilograms. The statement was made at a press conference on Tuesday, and comes in the wake of a 2011 study into the one of the drug's active ingredients, levonorgestrel. The study found that contraceptives with levonorgestrel as an active ingredient failed to contracept in women over 80kgs, and that the effectiveness of the drug decreased dramatically after 75kgs.
Frederique Welgryn of HRA Pharma, the company supplying NorLevo, said that the results of the study conducted by the Edinburgh University in 2011 were "quite surprising", and the last few years have seen "a lot of discussions" about contraceptives' efficacy in overweight or obese patients.
The information on drug packaging is being substantially revised. From next year it will feature a new leaflet warning women about the weight limits of the drug.
Dr Kenneth Chambarae, of Brussels' Free University, told CNN that the privilege of euthanasia would only be extended to competent minors who are suffering unbearable physical pain from a serious physical illness without prospect of improvement. Their option would be different from adults, who can request it if they are suffering psychologically.
Dr Chambarae says that the debate is fundamentally about creating an equal playing field for euthanasia. He expects very few children to choose euthanasia, but they should not be discriminated against in law.
In neighbouring Netherlands euthanasia for children as young as 12 is already permitted, although only five cases have been recorded since 2002 (not including infants). But the Belgian law would improve this by removing any reference to the age of the child.
There is still life in most famous bioethics article of all time, “After-birth abortion: why should the baby live?” This was 2012 article in the February issue of Journal of Medical Ethics by Alberto Giubilini and Francesca Minerva, two Italian bioethicists working in Australia. First reported as a BioEdge scoop, the news quickly ran around the world in newspapers, blogs, radio and TV.
The reaction was overwhelmingly hostile. Minerva, the corresponding author, says that she received more than 200 hate mails and death threats over the next six months. It was one of the most stressful times of her life. More importantly, she warns, the poisonous reaction was an ominous sign of the danger posed by internet-fuelled bullies to academic freedom.
Something, she writes in the latest issue of Bioethics, has to be done. “If academics find themselves increasingly involved in media uproars, and become more reluctant to write what they really think, this is ultimately harmful to society as a whole.”
Her solution is to go ninja: to fight for bold new ideas masked in anonymity. In other words, controversial articles should be or could be published anonymously in academic journals. This would have two benefits.
First, peace of mind. She writes plaintively that “Our productivity decreased for the weeks following the publication of the paper, while we were worn down by the hate emails and requests for interviews from journalists. More generally, thinking and writing are activities that require a minimal level of tranquillity, something we certainly lacked in those weeks.” Anonymity would preserve the bliss of solitude.
Second, debate would be livelier. “Giving academics the option to publish their research anonymously or under a pseudonym will give them the opportunity to develop new ideas, to challenge old biases, to solve old and new problems and to make the world a place where prejudice, ignorance and irrationality are challenged and, hopefully, defeated.”
Iain Brassington, writing on the JME blog, was sympathetic with the ideas in her original article but not with her latest brainstorm: “The proposal would be, in other words, unworkable, and undesirable. It’d stultify academia, not guarantee its freedom.”
A survey in Annals of Oncology claims that regulations in many countries to stem drug misuse leave cancer patients without access to opioid medicines for managing cancer pain.
National governments must take urgent action to improve access to these medicines, say the authors. "When one considers that effective treatments are cheap and available, untreated cancer pain and its horrendous consequences for patients and their families is a scandal of global proportions," says Nathan Cherny, an Israeli doctor who is the lead author of the report.
While there are problems with the supply of these medicines in many countries, the main problem is over-regulation that makes it difficult for healthcare professionals to prescribe and administer them for legitimate medical use, the authors say.
"This is a tragedy born out of good intentions," says Cherny. "When opioids are over-regulated, the precautionary measures to prevent abuse and diversion are excessive and impair the ability of healthcare systems to relieve real suffering. The GOPI study has uncovered over-regulation in much of the developing world."
Reporters for the journal Science have documented a thriving Chinese black market in articles and authorship in reputable scientific journals. “People are sparing no expense in order to get published,” says the former vice-president of Peking University Third Hospital.
“The options [says Science] include not just paying for an author's slot on a paper written by other scientists but also self-plagiarizing by translating a paper already published in Chinese and resubmitting it in English; hiring a ghost-writer to compose a paper from faked or independently gathered data; or simply buying a paper from an online catalogue of manuscripts—often with a guarantee of publication.”
Publish or perish has particular urgency in China. The gold standard is publication in indexed journals in English. “The number of papers a researcher has published in SCI-ranked journals over a 5-year period is often the deciding factor in promotions—and typically only papers on which the candidate is a first author or corresponding author count.”
As a result, shady agencies which act as brokers for data and ghost-writing have mushroomed. Science even found one website with a banner reading, “"IT'S UNBELIEVABLE: YOU CAN PUBLISH SCI PAPERS WITHOUT DOING EXPERIMENTS."
The president of the National Natural Science Foundation of China, Wei Yang, says in an editorial in Science that this black market is dismaying, but that things are definitely improving. “The development of good science in China should accomplish three goals: to produce original breakthroughs, to advance understanding from discoveries made elsewhere, and to gain global influence. None of this can happen until the scientific enterprise is healthy and credible.”
Strict materialism is hardly a new idea but there are few scientists who are more daring about taking it to its logical conclusions than Patricia Churchland, professor emerita at University of California, San Diego. In her latest book, Touching a Nerve: The Self as Brain, she argues yet another time that everything we feel and think stems not from an immaterial spirit but from electrical and chemical activity in our brains.
New Scientist recently interviewed her and asked some challenging questions. Here are a few excerpts:
The implications of neuroscience do not unsettle her: “It takes some getting used to, but I'm not freaked out by it. I certainly understand the ambivalence people have. On one hand, they're fascinated because it helps explain their mother's Alzheimer's, but on the other, they think, 'Gosh, the love that I feel for my child is really just neural chemistry' Well, actually, yes, it is. But that doesn't bother me.”
Philosophical objections are little more than turf wars: “Many philosophers think, hey, we thought we were going to have all the answers, and now you guys are wading in and telling us what knowledge is I think there's fear of a territorial kind, and rightly so.”
So, we are our brains? “True, we don't have adequate explanations yet, and it's important not to overstate where things are. But that's where the evidence is pointing. Everything we're learning in neuroscience points us in that direction.”
What about the meaning of life? “Neuroscience doesn't provide a story about how to live a life. But I think that understanding something about the nature of the brain encourages us to be sensible.”
The ethics of creating autonomous and intelligent robots used to be a purely speculative question. But with the development of drones, self-navigated cruise missiles and self-directing armoured vehicles, robot scientists realise that they must build ethical behaviour into their machines.
At the recent Atlanta Humanoids 2013 conference, the world's largest annual gathering of roboticists, Ronald C. Arkin of Georgia Institute of Technology urged colleagues to be aware of the capabilities of their creations: "these kinds of technologies you are developing may have uses in places you may not have fully envisioned."
Arkin’s talk was entitled ‘How NOT to Build a Terminator’.
"If you would like to create a Terminator, then I would contend: Keep doing what you are doing, because you are creating component technologies for such a device," he said. "There is a big world out there, and this world is listening to the consequences of what we are creating."
Gill Pratt of DARPA agreed with Arkin, saying, "with dual use being everywhere, it really doesn’t matter. If you’re designing a robot for health care, for instance, the autonomy it needs is actually in excess of what you would need for a disaster response robot."
Arkin and Pratt are not alone in their concerns. At a UN-sponsored meeting in Geneva earlier this month parties to the Convention on Conventional Weapons (CWC) agreed to reconvene in May to discuss the future of "autonomous weapons".