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Welcome to the nexus of ethics, psychology, morality, technology, health care, and philosophy
Showing posts with label Genetics. Show all posts
Showing posts with label Genetics. Show all posts

Sunday, November 6, 2022

‘Breakthrough’ finding shows how modern humans grow more brain cells than Neanderthals

Rodrigo Pérez Ortega
Originally posted 8 SEP 22

We humans are proud of our big brains, which are responsible for our ability to plan ahead, communicate, and create. Inside our skulls, we pack, on average, 86 billion neurons—up to three times more than those of our primate cousins. For years, researchers have tried to figure out how we manage to develop so many brain cells. Now, they’ve come a step closer: A new study shows a single amino acid change in a metabolic gene helps our brains develop more neurons than other mammals—and more than our extinct cousins, the Neanderthals.

The finding “is really a breakthrough,” says Brigitte Malgrange, a developmental neurobiologist at the University of Liège who was not involved in the study. “A single amino acid change is really, really important and gives rise to incredible consequences regarding the brain.”

What makes our brain human has been the interest of neurobiologist Wieland Huttner at the Max Planck Institute of Molecular Cell Biology and Genetics for years. In 2016, his team found that a mutation in the ARHGAP11B gene, found in humans, Neanderthals, and Denisovans but not other primates, caused more production of cells that develop into neurons. Although our brains are roughly the same size as those of Neanderthals, our brain shapes differ and we created complex technologies they never developed. So, Huttner and his team set out to find genetic differences between Neanderthals and modern humans, especially in cells that give rise to neurons of the neocortex. This region behind the forehead is the largest and most recently evolved part of our brain, where major cognitive processes happen.

The team focused on TKTL1, a gene that in modern humans has a single amino acid change—from lysine to arginine—from the version in Neanderthals and other mammals. By analyzing previously published data, researchers found that TKTL1 was mainly expressed in progenitor cells called basal radial glia, which give rise to most of the cortical neurons during development.

Tuesday, March 29, 2022

Gene editing gets safer thanks to redesigned Cas9 protein

Science Daily
Originally posted 2 MAR 22


Scientists have redesigned a key component of a widely used CRISPR-based gene-editing tool, called Cas9, to be thousands of times less likely to target the wrong stretch of DNA while remaining just as efficient as the original version, making it potentially much safer.


Scientists have redesigned a key component of a widely used CRISPR-based gene-editing tool, called Cas9, to be thousands of times less likely to target the wrong stretch of DNA while remaining just as efficient as the original version, making it potentially much safer.

One of the grand challenges with using CRISPR-based gene editing on humans is that the molecular machinery sometimes makes changes to the wrong section of a host's genome, creating the possibility that an attempt to repair a genetic mutation in one spot in the genome could accidentally create a dangerous new mutation in another.

But now, scientists at The University of Texas at Austin have redesigned a key component of a widely used CRISPR-based gene-editing tool, called Cas9, to be thousands of times less likely to target the wrong stretch of DNA while remaining just as efficient as the original version, making it potentially much safer. The work is described in a paper published today in the journal Nature.

"This really could be a game changer in terms of a wider application of the CRISPR Cas systems in gene editing," said Kenneth Johnson, a professor of molecular biosciences and co-senior author of the study with David Taylor, an assistant professor of molecular biosciences. The paper's co-first authors are postdoctoral fellows Jack Bravo and Mu-Sen Liu.

Journal Reference:

Jack P. K. Bravo, Mu-Sen Liu, et al. Structural basis for mismatch surveillance by CRISPR–Cas9. Nature, 2022; DOI: 10.1038/s41586-022-04470-1

Friday, February 25, 2022

Public Deliberation about Gene Editing in the Wild

M. K. Gusmano, E. Kaebnick, et al. (2021).
Hastings Center Report
10.1002/hast.1318, 51, S2, (S34-S41).


Genetic editing technologies have long been used to modify domesticated nonhuman animals and plants. Recently, attention and funding have also been directed toward projects for modifying nonhuman organisms in the shared environment—that is, in the “wild.” Interest in gene editing nonhuman organisms for wild release is motivated by a variety of goals, and such releases hold the possibility of significant, potentially transformative benefit. The technologies also pose risks and are often surrounded by a high uncertainty. Given the stakes, scientists and advisory bodies have called for public engagement in the science, ethics, and governance of gene editing research in nonhuman organisms. Most calls for public engagement lack details about how to design a broad public deliberation, including questions about participation, how to structure the conversations, how to report on the content, and how to link the deliberations to policy. We summarize the key design elements that can improve broad public deliberations about gene editing in the wild.

Here is the gist of the paper:

We draw on interdisciplinary scholarship in bioethics, political science, and public administration to move forward on this knot of conceptual, normative, and practical problems. When is broad public deliberation about gene editing in the wild necessary? And when it is required, how should it be done? These questions lead to a suite of further questions about, for example, the rationale and goals of deliberation, the features of these technologies that make public deliberation appropriate or inappropriate, the criteria by which “stakeholders” and “relevant publics” for these uses might be identified, how different approaches to public deliberation map onto the challenges posed by the technologies, how the topic to be deliberated upon should be framed, and how the outcomes of public deliberation can be meaningfully connected to policy-making.

Sunday, August 29, 2021

A New Era of Designer Babies May Be Based on Overhyped Science

Laura Hercher
Scientific American
Originally published 12 July 21

Here is an excerpt:

Current polygenic risk scores have limited predictive strength and reflect the shortcomings of genetic databases, which are overwhelmingly Eurocentric. Alicia Martin, an instructor at Massachusetts General Hospital and the Broad Institute of the Massachusetts Institute of Technology and Harvard University, says her research examining polygenic risk scores suggests “they don’t transfer well to other populations that have been understudied.” In fact, the National Institutes of Health announced in mid-June that it will be giving out $38 million in grants over five years to find ways to enhance disease prediction in diverse populations using polygenic risk scores. Speaking of Orchid, Martin says, “I think it is premature to try to roll this out.”

In an interview about embryo screening and ethics featured on the company’s Web site, Jonathan Anomaly, a University of Pennsylvania bioethicist, suggested the current biases are a problem to be solved by getting customers and doing the testing. “As I understand it,” he said, “Orchid is actively building statistical models to improve ancestry adaptation and adjustments for genetic risk scores, which will increase accessibility of the product to all individuals.”

Still, better data sets will not allay all concerns about embryo selection. The combined expense of testing and IVF means that unequal access to these technologies will continue to be an issue. In her Mendelspod interview, Siddiqui insisted, “We think that everyone who wants to have a baby should be able to, and we want our technology to be as accessible to everyone who wants it,” adding that the lack of insurance coverage for IVF is a major problem that needs to be addressed in the U.S.

But should insurance companies pay for fertile couples to embryo-shop? This issue is complicated, especially in light of the fact that polygenic risk scores can generate predictions for more than just heart disease and cancer. They can be devised for any trait with a heritable component, and existing models offer predictions for educational attainment, neuroticism and same-sex sexual behavior, all with the same caveats and limitations as Orchid’s current tests for major diseases. To be clear, tests for these behavioral traits are not part of Orchid’s current genetic panel. But when talking about tests the company does offer, Siddiqui suggested that the ultimate decision makers should be the parents-to-be. “I think at the end of the day, you have to respect patient autonomy,” she said.

Saturday, June 19, 2021

Preparing for the Next Generation of Ethical Challenges Concerning Heritable Human Genome Editing

Robert Klitzman
The American Journal of Bioethics
(2021) Volume 21 (6), 1-4.

Here is the conclusion

Moving Forward

Policymakers will thus need to make complex and nuanced risk/benefit calculations regarding costs and extents of treatments, ages of onset, severity of symptoms, degrees of genetic penetrance, disease prevalence, future scientific benefits, research costs, appropriate allocations of limited resources, and questions of who should pay.

Future efforts should thus consider examining scientific and ethical challenges in closer conjunction, not separated off, and bring together the respective strengths of the Commission’s and of the WHO Committee’s approaches. The WHO Committee includes broader stakeholders, but does not yet appear to have drawn conclusions regarding such specific medical and scientific scenarios (WHO 2020). These two groups’ respective memberships also differ in instructive ways that can mutually inform future deliberations. Among the Commission’s 18 chairs and members, only two appear to work primarily in ethics or policy; the majority are scientists (National Academy of Medicine, the National Academies of Sciences and the Royal Society 2020). In contrast, the WHO Committee includes two chairs and 16 members, with both chairs and the majority of members working primarily in ethics, policy or law (WHO 2020). ASRM and other countries’ relevant professional organizations should also stipulate that physicians and healthcare professionals should not be involved in any way in the care of patients using germline editing abroad.

The Commission’s Report thus provides valuable insights and guidelines, but multiple stakeholders will likely soon confront additional, complex dilemmas involving interplays of both science and ethics that also need urgent attention.

Thursday, May 6, 2021

A chip off the (im)moral block? Lay beliefs about genetic heritability predicts whether family members’ actions affect self-judgments

Peetz, J., Wohl, M. J. A., Wilson, A. E., 
& Dawson, A. 
(2021, March 18).


The idea of heritability may have consequences for individuals’ sense of self by connecting identity to the actions of others who happen to share genetic ties. Across seven experimental studies (total N=2,628), recalling morally bad or good actions by family members influenced individuals’ moral self among those who endorse a lay belief that moral character is genetically heritable, but not among those who did not endorse this belief (Study 1-5). In contrast, recalling actions by unrelated individuals had no effect, regardless of lay beliefs (Study 2, 5), the endorsement of other relevant lay beliefs did not moderate the effect of parent’s actions on self-judgments (Study 3). Individuals who endorsed heritability beliefs also chose less helpful responses to hypothetical helping scenarios if they had recalled unhelpful (vs. helpful) acts by a genetically-related family member (Study 5). Taken together, these studies suggest that lay beliefs in the role of genetics are important for self-perceptions.

General Discussion 

In the present research, we examined whether a person’s convictions about their own moral character might be shaped, in part, by the actions of others. Across seven studies, we found evidence that past actions by genetically related family members, and specifically parents, can influence an individual’s sense of moral self –but only if that individual believes that the critical aspect of the self (in our studies, moral character) is genetically inherited (Study 1-5). Past actions by genetically unrelated individuals such as friends or strangers (Study 2), and unrelated family members (Study 5) did not affect participants’ moral self-judgment in the same way, and other lay beliefs(i.e., socialization and the malleability of morality) did not moderate the influence of parents’ actions in the same way (Study 3).

Theoretical Contributions

Self and Identity

This research helps disentangle some of the questions about whether and when other people’s action may influence individuals’ self-concept.  Although the existing literature has demonstrated that the actions of others can indeed have an impact on the self (e.g., people may feel threatened, embarrassed, proud or guilty when reminded of the actions of others and may sometimes believe they will be judged on the basis of others’ actions), past work has not focused on how actions of others might affect self-concept. Further, prior research in this vein has not typically systematically considered whether the effects of others’ actions on the self is the result of that relation being chosen (i.e., friendship), being due to group membership, or being due to genetics(i.e., family). We extend past knowledge in this field by examining whether people’s beliefs about genetic heritability can determine the degree to which family members’ actions predict one’s own self-judgments.   

Tuesday, May 4, 2021

Human cells grown in monkey embryos reignite ethics debate

Nicola Davis
The Guardian
Originally published 15 Apr 21

Monkey embryos containing human cells have been produced in a laboratory, a study has confirmed, spurring fresh debate into the ethics of such experiments.

The embryos are known as chimeras, organisms whose cells come from two or more “individuals”, and in this case, different species: a long-tailed macaque and a human.

In recent years researchers have produced pig embryos and sheep embryos that contain human cells – research they say is important as it could one day allow them to grow human organs inside other animals, increasing the number of organs available for transplant.

Now scientists have confirmed they have produced macaque embryos that contain human cells, revealing the cells could survive and even multiply.

In addition, the researchers, led by Prof Juan Carlos Izpisua Belmonte from the Salk Institute in the US, said the results offer new insight into communications pathways between cells of different species: work that could help them with their efforts to make chimeras with species that are less closely related to our own.

“These results may help to better understand early human development and primate evolution and develop effective strategies to improve human chimerism in evolutionarily distant species,” the authors wrote.

The study confirms rumours reported in the Spanish newspaper El País in 2019 that a team of researchers led by Belmonte had produced monkey-human chimeras. The word chimera comes from a beast in Greek mythology that was said to be part lion, part goat and part snake.

Thursday, February 4, 2021

Robust inference of positive selection on regulatory sequences in the human brain

J. Liu & M. Robison-Rechavi
Science Advances  27 Nov 2020:
Vol. 6, no. 48, eabc9863


A longstanding hypothesis is that divergence between humans and chimpanzees might have been driven more by regulatory level adaptations than by protein sequence adaptations. This has especially been suggested for regulatory adaptations in the evolution of the human brain. We present a new method to detect positive selection on transcription factor binding sites on the basis of measuring predicted affinity change with a machine learning model of binding. Unlike other methods, this approach requires neither defining a priori neutral sites nor detecting accelerated evolution, thus removing major sources of bias. We scanned the signals of positive selection for CTCF binding sites in 29 human and 11 mouse tissues or cell types. We found that human brain–related cell types have the highest proportion of positive selection. This result is consistent with the view that adaptive evolution to gene regulation has played an important role in evolution of the human brain.


With only 1 percent difference, the human and chimpanzee protein-coding genomes are remarkably similar. Understanding the biological features that make us human is part of a fascinating and intensely debated line of research. Researchers have developed a new approach to pinpoint adaptive human-specific changes in the way genes are regulated in the brain.

Saturday, January 9, 2021

The Last Children of Down Syndrome

Sarah Zhang
The Atlantic
Originally posted December 2020

Here is an excerpt:

Eugenics in Denmark never became as systematic and violent as it did in Germany, but the policies came out of similar underlying goals: improving the health of a nation by preventing the birth of those deemed to be burdens on society. The term eugenics eventually fell out of favor, but in the 1970s, when Denmark began offering prenatal testing for Down syndrome to mothers over the age of 35, it was discussed in the context of saving money—as in, the testing cost was less than that of institutionalizing a child with a disability for life. The stated purpose was “to prevent birth of children with severe, lifelong disability.”

That language too has long since changed; in 1994, the stated purpose of the testing became “to offer women a choice.” Activists like Fält-Hansen have also pushed back against the subtle and not-so-subtle ways that the medical system encourages women to choose abortion. Some Danish parents told me that doctors automatically assumed they would want to schedule an abortion, as if there was really no other option. This is no longer the case, says Puk Sandager, a fetal-medicine specialist at Aarhus University Hospital. Ten years ago, doctors—especially older doctors—were more likely to expect parents to terminate, she told me. “And now we do not expect anything.” The National Down Syndrome Association has also worked with doctors to alter the language they use with patients—“probability” instead of “risk,” “chromosome aberration” instead of “chromosome error.” And, of course, hospitals now connect expecting parents with people like Fält-Hansen to have those conversations about what it’s like to raise a child with Down syndrome.

Sunday, September 13, 2020

Correlation not Causation: The Relationship between Personality Traits and Political Ideologies

B. Verhulst, L. J. Evans, & P. K. Hatemi
Am J Pol Sci. 2012 ; 56(1): 34–51.


The assumption in the personality and politics literature is that a person's personality motivates them to develop certain political attitudes later in life. This assumption is founded on the simple correlation between the two constructs and the observation that personality traits are genetically influenced and develop in infancy, whereas political preferences develop later in life. Work in psychology, behavioral genetics, and recently political science, however, has demonstrated that political preferences also develop in childhood and are equally influenced by genetic factors. These findings cast doubt on the assumed causal relationship between personality and politics. Here we test the causal relationship between personality traits and political attitudes using a direction of causation structural model on a genetically informative sample. The results suggest that personality traits do not cause people to develop political attitudes; rather, the correlation between the two is a function of an innate common underlying genetic factor.

From the Discussion section

Based on the current results, the claim that personality traits lead to political orientations should no longer be assumed, but explicitly tested for each personality and political trait prior to making any claims about their relationship. We recognize that no single analysis can provide a definitive answer to such a complex question, and our analysis did not include the Agreeableness, Conscientiousness, and Openness Five-Factor Model measures. Future studies which use different personality measures, or other methodological designs, including panel studies that examine the developmental trajectories of personality and attitudes from childhood to adulthood, would be invaluable for investigating more nuanced relationships between personality traits and political attitudes. These would also include models which capture the nonrandom selection into environments that foster the development of more liberal or conservative political attitudes (active gene-environment covariation) as well as the possibility for differential expression of personality traits and political attitudes at different stages of the developmental process that may illuminate “critical periods” for the interface of personality and attitudes.

A link to the pdf can be found on this page.

Wednesday, August 5, 2020

A genetic profile of oxytocin receptor improves moral acceptability of outcome-maximizing harm in male insurance brokers

S. Palumbo, V. Mariotti, and others
Behavioural Brain Research
Volume 392, 17 August 2020, 112681


In recent years, conflicting findings have been reported in the scientific literature about the influence of dopaminergic, serotonergic and oxytocinergic gene variants on moral behavior. Here, we utilized a moral judgment paradigm to test the potential effects on moral choices of three polymorphisms of the Oxytocin receptor (OXTR): rs53576, rs2268498 and rs1042770. We analyzed the influence of each single polymorphism and of genetic profiles obtained by different combinations of their genotypes in a sample of male insurance brokers (n = 129), as compared to control males (n = 109). Insurance brokers resulted significantly more oriented to maximize outcomes than control males, thus they expressed more than controls the utilitarian attitude phenotype. When analyzed individually, none of the selected variants influenced the responses to moral dilemmas. In contrast, a composite genetic profile that potentially increases OXTR activity was associated with higher moral acceptability in brokers. We hypothesize that this genetic profile promotes outcome-maximizing behavior in brokers by focusing their attention on what represents a greater good, that is, saving the highest number of people, even though at the cost of sacrificing one individual. Our data suggest that investigations in a sample that most expresses the phenotype of interest, combined with the analysis of composite genetic profiles rather than individual variants, represent a promising strategy to find out weak genetic influences on complex phenotypes, such as moral behavior.


• Male insurance brokers as a sample to study utilitarian attitude.

• They are more aligned with utilitarianism than control males.

• Frequency of outcome-maximizing choices positively correlates with impulsivity in brokers.

• Genetic profiles affecting OXTR activity make outcome-maximizing harm more acceptable.

• Improved OXT transmission directs attention to choices more advantageous for society.

The research is here.

Wednesday, July 15, 2020

Empathy is both a trait and a skill. Here's how to strengthen it.

Kristen Rogers
Originally posted 24 June 20

Here is an excerpt:

Types of empathy

Empathy is more about looking for a common humanity, while sympathy entails feeling pity for someone's pain or suffering, Konrath said.

"Whereas empathy is the ability to perceive accurately what another person is feeling, sympathy is compassion or concern stimulated by the distress of another," Lerner said. "A common example of empathy is accurately detecting when your child is afraid and needs encouragement. A common example of sympathy is feeling sorry for someone who has lost a loved one."


A "common mistake is to leap into sympathy before empathically understanding what another person is feeling," Lerner said. Two types of empathy can prevent that relationship blunder.

Emotional empathy, sometimes called compassion, is more intuitive and involves care and concern for others.

Cognitive empathy requires effort and more systematic thinking, so it may lead to more empathic accuracy, Lerner said.  It entails considering others' and their perspectives and imagining what it's like to be them, Konrath added.

Some work managers and colleagues, for example, have had to practice empathy for parents juggling remote work with child care and virtual learning duties, said David Anderson, senior director of national programs and outreach at the Child Mind Institute….   But since the outset of the pandemic in March, that empathy has faded — reflecting the notion that cognitive empathy does take effort.

It takes work to interpret what someone is feeling by all of his cues: facial expressions, tones of voice, posture, words and more. Then you have to connect those cues with what you know about him and the situation in order to accurately infer his feelings.

"This kind of inference is a highly complex social-cognitive task" that might involve a variation of mental processes, Lerner said.

The info is here.

Tuesday, June 30, 2020

Why Sex? Biologists Find New Explanations.

Christie Wilcox
Quanta Magazine
Originally posted 23 April 20

Here are several excerpts:

The immediate benefit of sex for the algae is that they form resistant diploid spores that can outlast a bad environment. When better conditions return, the algal cells return to their haploid state through meiosis. But as Nedelcu and her colleagues point out, the process of meiosis also offers unique opportunities for genomic improvement that go beyond diversity.

Like all multicellular organisms, these algae have ways of healing small breaks or errors in their DNA. But if the damage is bad enough, those mechanisms struggle to accurately repair it. In those cases, having a second copy of that strand of DNA to use as a template for the repairs can be a lifesaver. “That’s basically what most organisms have by being diploid,” Nedelcu explained.


Such indirect benefits may extend far beyond meiosis. “Sex also refers to copulation and sexual behaviors,” McDonough said. Researchers studying everything from crickets to mice are starting to see that having sex can have all sorts of unexpected upsides.

Unexpected, that is, because it’s generally assumed not only that sex is inefficient compared to asexual reproduction, but that it imposes an energy burden on the individuals involved. Producing eggs or sperm, finding a mate, the act of mating — all of it takes energy and resources. Consequently, there’s a trade-off between reproduction and other things an organism might do to survive longer, such as growing bigger or bolstering its immune system.


Of course, those consequences go both ways: Cultural beliefs and views on sex influence how we go about studying and interpreting the results from research on other organisms. Our biases regarding sexual activity — like which kinds are or aren’t “normal” or proper — “have essentially affected what it is that we’ve deemed important to study in animals,” Worthington said.

McDonough agrees that our preconceptions of what sex should look like and the reasons why an individual should or shouldn’t have it have biased our understanding of animal behavior. They point to the research on same-sex behaviors in animals as a prime example of this. McDonough and their colleagues noticed that the scientific discourse surrounding same-sex behaviors involves a lot of weak or baseless assumptions — for example, that engaging in sexual acts is inherently costly, so same-sex sexual interactions must provide some overwhelming benefit, such as a large increase in lifetime reproductive output, for the behavior to arise and stick around through natural selection. But “in many situations, it isn’t costly, and it may have some kind of benefit that we don’t understand,” McDonough said.

The info is here.

Sunday, May 31, 2020

The Answer to a COVID-19 Vaccine May Lie in Our Genes, But ...

Ifeoma Ajunwa & Forrest Briscoe
Scientific American
Originally posted 13 May 2020

Here is an excerpt:

Although the rationale for expanded genetic testing is obviously meant for the greater good, such testing could also bring with it a host of privacy and economic harms. In the past, genetic testing has also been associated with employment discrimination. Even before the current crisis, companies like 23andMe and Ancestry assembled and started operating their own private long-term large-scale databases of U.S. citizens’ genetic and health data. 23andMe and Ancestry recently announced they would use their databases to identify genetic factors that predict COVID-19 susceptibility.

Other companies are growing similar databases, for a range of purposes. And the NIH’s AllofUs program is constructing a genetic database, owned by the federal government, in which data from one million people will be used to study various diseases. These new developments indicate an urgent need for appropriate genetic data governance.

Leaders from the biomedical research community recently proposed a voluntary code of conduct for organizations constructing and sharing genetic databases. We believe that the public has a right to understand the risks of genetic databases and a right to have a say in how those databases will be governed. To ascertain public expectations about genetic data governance, we surveyed over two thousand (n=2,020) individuals who altogether are representative of the general U.S. population. After educating respondents about the key benefits and risks associated with DNA databases—using information from recent mainstream news reports—we asked how willing they would be to provide their DNA data for such a database.

The info is here.

Friday, January 17, 2020

'DNA is not your destiny': Genetics a poor indicator of health

Nicole Bergot
Edmonton Journal
Originally posted 18 Dec 19

The vast majority of diseases, including many cancers, diabetes, and Alzheimer’s, have a genetic contribution of just five to 10 per cent, shows the meta-analysis of data from studies that examine relationships between common gene mutations, or single nucleotide polymorphisms (SNPs), and different conditions.

“Simply put, DNA is not your destiny, and SNPs are duds for disease prediction,” said study co-author David Wishart, professor in the department of biological sciences and the department of computing science.

But there are exceptions, including Crohn’s disease, celiac disease, and macular degeneration, which have a genetic contribution of approximately 40 to 50 per cent.

“Despite these rare exceptions, it is becoming increasingly clear that the risks for getting most diseases arise from your metabolism, your environment, your lifestyle, or your exposure to various kinds of nutrients, chemicals, bacteria, or viruses,” said Wishart.

The info is here.

Wednesday, August 28, 2019

Asymmetrical genetic attributions for prosocial versus antisocial behaviour

Matthew S. Lebowitz, Kathryn Tabb &
Paul S. Appelbaum
Nature Human Behaviour (2019)


Genetic explanations of human behaviour are increasingly common. While genetic attributions for behaviour are often considered relevant for assessing blameworthiness, it has not yet been established whether judgements about blameworthiness can themselves impact genetic attributions. Across six studies, participants read about individuals engaging in prosocial or antisocial behaviour, and rated the extent to which they believed that genetics played a role in causing the behaviour. Antisocial behaviour was consistently rated as less genetically influenced than prosocial behaviour. This was true regardless of whether genetic explanations were explicitly provided or refuted. Mediation analyses suggested that this asymmetry may stem from people’s motivating desire to hold wrongdoers responsible for their actions. These findings suggest that those who seek to study or make use of genetic explanations’ influence on evaluations of, for example, antisocial behaviour should consider whether such explanations are accepted in the first place, given the possibility of motivated causal reasoning.

The research is here.

Tuesday, July 9, 2019

A Waste of 1,000 Research Papers

Ed Yong
The Atlantic
Originally posted May 17, 2019

In 1996, a group of European researchers found that a certain gene, called SLC6A4, might influence a person’s risk of depression.

It was a blockbuster discovery at the time. The team found that a less active version of the gene was more common among 454 people who had mood disorders than in 570 who did not. In theory, anyone who had this particular gene variant could be at higher risk for depression, and that finding, they said, might help in diagnosing such disorders, assessing suicidal behavior, or even predicting a person’s response to antidepressants.

Back then, tools for sequencing DNA weren’t as cheap or powerful as they are today. When researchers wanted to work out which genes might affect a disease or trait, they made educated guesses, and picked likely “candidate genes.” For depression, SLC6A4 seemed like a great candidate: It’s responsible for getting a chemical called serotonin into brain cells, and serotonin had already been linked to mood and depression. Over two decades, this one gene inspired at least 450 research papers.

But a new study—the biggest and most comprehensive of its kind yet—shows that this seemingly sturdy mountain of research is actually a house of cards, built on nonexistent foundations.

Richard Border of the University of Colorado at Boulder and his colleagues picked the 18 candidate genes that have been most commonly linked to depression—SLC6A4 chief among them. Using data from large groups of volunteers, ranging from 62,000 to 443,000 people, the team checked whether any versions of these genes were more common among people with depression. “We didn’t find a smidge of evidence,” says Matthew Keller, who led the project.

The info is here.

Saturday, July 6, 2019

Congress weighs dropping ban on altering the DNA of human embryos used for pregnancies

Embryonic cell divisionSharon Begley and Andrew Joseph
Originally posted June 4, 2019

A congressional committee is expected to vote on Tuesday to drop a ban on altering the genomes of human embryos intended for pregnancies, which could open the door to creating babies with genetic material from three people or with genomes that have been modified in a way that would be inherited by their descendants, as China’s “CRISPR babies” were.

The prohibition on modifying the DNA of embryos for reproduction (as opposed to doing so in basic research that stops short of pregnancies) has been attached to bills that fund the Food and Drug Administration since December 2015. But last month, a House appropriations subcommittee approved a version of an FDA spending bill without the amendment, or rider — amid worldwide condemnation of the CRISPR babies experiment last year and calls by leading scientists for a global moratorium on creating gene-edited babies.

“People don’t appreciate that this is the only piece of legislation in the United States that stands between us and genetically engineered children,” said science historian J. Benjamin Hurlbut of Arizona State University, who supports a “global observatory” to track uses of CRISPR, the powerful genome-editing technology.

The info is here.

Friday, June 28, 2019

‘We as a species need to come to terms’ with CRISPR technology

Ashley Turner
Originally posted May 21, 2019

Here is an excerpt:

Former FDA Commissioner Scott Gottlieb said Tuesday that He’s research was a “horrible experiment and it established a horrible precedent.” Gottlieb said He’s experiment risked causing people to “rightfully” turn away from the science.

Gottlieb said he has yet to see any compelling arguments in favor of human germline editing.

Paul Dabrowski, CEO of Synthego, a genome engineering company, agreed the scientific community is not yet ready for germline editing. He wondered whether allowing parents to choose to genetically alter their future children can be ethical if they’re not the one who is having their DNA changed.

“How do you make sure you can align the person who is consenting and the person who is taking the risk?” Dabrowski asked.

Stanford’s Hurlbut said there are risks to editing DNA, as those traits can then be passed down to future generations. Editing certain genes can also cause changes in other genes, according to Hurlbut.

“We want to be very careful, nature is a profound balance and if we intervene in a way that is not profound we can upset things,” Hurlbut said.

The info is here.

Friday, May 10, 2019

Privacy, data science and personalised medicine. Time for a balanced discussion

Claudia Pagliari
LinkedIn.com Post
Originally posted March 26, 2019

There are several fundamental truths that those of us working at the intersection of data science, ethics and medical research have recognised for some time. Firstly that 'anonymised’ and ‘pseudonymised' data can potentially be re-identified through the convergence of related variables, coupled with clever inference methods (although this is by no means easy). Secondly that genetic data is not just about individuals but also about families and generations, past and future. Thirdly, as we enter an increasingly digitized society where transactional, personal and behavioural data from public bodies, businesses, social media, mobile devices and IoT are potentially linkable, the capacity of data to tell meaningful stories about us is becoming constrained only by the questions we ask and the tools we are able to deploy to get the answers. Some would say that privacy is an outdated concept, and control and transparency are the new by-words. Others either disagree or are increasingly confused and disenfranchised.

Some of the quotes from the top brass of Iceland’s DeCODE Genetics, appearing in today’s BBC’s News, neatly illustrate why we need to remain vigilant to the ethical dilemmas presented by the use of data sciences for personalised medicine. For those of you who are not aware, this company has been at the centre of innovation in population genomics since its inception in the 1990s and overcame a state outcry over privacy and consent, which led to its temporary bankruptcy, before rising phoenix-like from the ashes. The fact that its work has been able to continue in an era of increasing privacy legislation and regulation shows just how far the promise of personalized medicine has skewed the policy narrative and the business agenda in recent years. What is great about Iceland, in terms of medical research, is that it is a relatively small country that has been subjected to historically low levels of immigration and has a unique family naming system and good national record keeping, which means that the pedigree of most of its citizens is easy to trace. This makes it an ideal Petri dish for genetic researchers. And here’s where the rub is. In short, by fully genotyping only 10,000 people from this small country, with its relatively stable gene pool, and integrating this with data on their family trees - and doubtless a whole heap of questionnaires and medical records - the company has, with the consent of a few, effectively seized the data of the "entire population".

The info is here.