Category Archives: Genome

BEVERLY,Mass., Nov. 15, 2019 /PRNewswire/ -- Medicinal Genomics Corp. (MGC), a pioneer in genomics and blockchain technology to improve the yield, safety and transparency of cannabis, today announced its partnership with Tagaca SRL as its distributor of record in Uruguay. Tagaca is the leading biotechnology distribution firm in Uruguay with product lines that span a broad spectrum of solutions, from laboratory systems and equipment to animal health.

"Uruguay is very serious about every aspect of the cannabis business as we have gone about this pioneering social experiment. And the potential for us to participate in the multibillion dollar global cannabis is clear," said Philip Goodwin, Tagaca's Director. "Our focus has always been to do things right from the beginning, in growing and testing, seed to sale tracking and retail supply. That's why our partnership with Medicinal Genomics is so important. We're not just building a cannabis market, we're building a reputation on a global scale, and for that, we want to work with the very best experts we can find."

Uruguay was the first country in the world to legalize cannabis in all its formsindustrial, medical and recreational in 2013. Today, more than 35,000 cannabis users avail themselves of government programs that control supply and licensing through pharmacies, a robust cadre of more than 7,000 home growers, and more than a hundred non-profit cannabis clubs growing supplying cannabis to nearly 3,500 registered members. There is also a burgeoning hemp market consisting of dozens of large-scale growers, and the government has recently opened the application process to increase the number of recreational commercial growers. The country is also attracting foreign investment and has created landmark export programs to supply cannabis to other countries as cannabis is legalized around the world.

"We couldn't be more pleased to partner with Tagaca in Uruguay. They have deep domain experience, and are one of the most respected biotech distributors in the country," said Brendan McKernan, CEO of Medicinal Genomics. "The Uruguayan market has tremendous potential and they've been building it from the ground up. That's why firms like Tagaca will play such an important role in their country's development in this global industry. We're honored and excited to be a part of that."

About Tagaca SRLFrom the beginning our goal was not to be another conventional company that imports scientific products.Our aspiration is to build a space of trust and advice for our clients, actively supporting their development and research processes, always focused on achieving successful results in all new ventures.We want science in Uruguay to grow and we work hard every day so that the Uruguayan scientist can discuss his ideas with us, knowing that our main objective is to ensure the quality of their results by working together on each idea, each new project or technical difficulty;facilitating, if necessary, contact with the person or company with the appropriate experience.Our advice will be fair and impartial, always trying to help with sincerity and humility. To achieve this, it is imperative that our service respects the times and needs of each person and their project, which is why we have been working with our suppliers for more than five years so that the logistics processes are effective.We explore all possible options to minimize the delivery times of our products, optimizing the operating procedures, and demanding the service and attention from the manufacturer that our customers deserve.

About Medicinal Genomics CorporationMedicinal Genomics Corporation is a pioneer in advancing the genomics of cannabis to build a stronger scientific foundation for cannabis-based products. The company's unmatched expertise in genetic science helps cultivators, dispensaries and testing laboratories characterize and understand the quality and consistency of cannabis to ensure patients and consumers have access to consistently safe, high quality cannabis. To support their mission, Medicinal Genomics also produces CannMed, an annual gathering of cannabis leaders, dedicated to the scientific advancement of the cannabis industry, and Kannapedia, the world's most complete public cannabis cultivar database.For more information, please visit http://www.medicinalgenomics.com.

MGC media contact:Ben Amiraultben.amirault@medicinalgenomics.com(617) 892-7243

SOURCE Medicinal Genomics Corporation

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Medicinal Genomics Signs Tagaca SRL as Distribution Partner for its Genomic Breeding and Testing Platform in Uruguay. - PRNewswire

The genetic make-up of the iconic Scottish primrose, mosses from the countrys Celtic rainforests and rare plants from some of our highest mountains is to be laid bare in a ground-breaking new project that will act as a launchpad for global plans to sequence the genomes of all life on earth.

The internationally important native plants are among 2,000 across the UK that will have their DNA examined and documented in the first phase of the 9.4 million Darwin Tree of Life (DToL) project.

The initiative, funded by the Wellcome Sanger Institute, will eventually barcode around 8,000 key British species of plants, animals and fungi in the next two and a half years.

Scientists from the Royal Botanic Garden Edinburgh (RBGE) and the University of Edinburgh (UoE) are part of the UK-wide research team.

They say cataloguing the genomes of all Britains organisms will provide an unprecedented insight into the evolution of life on earth, while potentially identifying new treatments for diseases or solutions to future food security.

It will also increase understanding of how nature responds and adapts to environmental factors such as climate change, providing useful guidance for conservation.

The DToL will build the foundations to develop sequencing pipelines and sampling processes on a relatively well-known flora, and from that it can be expanded out to ultimately sequence everything on earth, said Dr Michelle Hart, who is heading up the RBGE team.

The teams work during the initial stage of the project will concentrate on important Scottish groups that are rare or of high conservation interest, particularly ferns, mosses, liverworts, lichens and rare flowering plants such as the primrose and twinflower.

She said: There are 1,000 bryophytes in the British Isles. Our bryophyte flora is an international botanical asset, because of its diversity and the global rarity of some of the habitats and species such as the snowbeds of the Cairngorm mountains.

And then there are lichens and mosses from the Atlantic woodlands of the Celtic rainforest this habitat is unique to Scotland.

The researchers will have access to the latest DNA-sequencing technology, but will also develop novel methods for analysing specimens.

To sequence whole genomes its crucial we obtain very high-quality DNA extractions from the organisms, in very long unbroken strands, Dr Hart said.

This means rethinking many of our techniques. We will explore gentle methodologies for breaking through plant cell walls and extracting their DNA without using harsh physical or chemical procedures.

RBGE science policy and impact officer Dr Alex Davey added: By fine-tuning our methodologies on the well-known flora and fauna of the British Isles we will be in an excellent position to extend this work in future to the genomes of lesser-known species from biodiversity hot-spots of the world.

The DToL is a foundational project, working towards the ultimate goal of sequencing all complex life on earth, as part of the Earth BioGenome project.

From the small fraction of the earths species whose genomes have already been sequenced, enormous advances have been made in knowledge and biomedicine. The DToL takes this to a whole new level.

Dr Alex Twyford, lecturer in botany at the University of Edinburgh, added: The Darwin Tree of Life Project will transform our understanding of the British fauna and flora, providing new insights from the level of the gene to the entire ecosystem. The Royal Botanic Garden Edinburgh and the University of Edinburgh will play an important role in collecting and analysing British plants and will use these data to inform our conservation science.

The Natural History Museum, University of Cambridge, Earlham Institute, EMBLs European Bioinformatics Institute, Marine Biological Association, Royal Botanic Gardens Kew and University of Oxford make up the rest of the DToL team.

All the information collected for DToL will be made publicly available.

Professor Mark Blaxter, leader of the DToL programme at the Wellcome Sanger Institute, said: The DToL project will change biology forever, delivering new insights into the numerous animals, plants, fungi and protists that call the British Isles home.

Link:
Rare native plants and mosses to yield DNA fingerprints - The Scotsman

"It has a whole bunch of other things surrounding it, but it creates depressive symptoms."

According to SANE Australia, up to 4 per cent of Australians will develop BPD at some point in their life, with the symptoms usually manifesting in late adolescence.

Sufferers have trouble managing their emotions and impulses, and can also struggle to maintain a stable self-image.

The causes of BPD are not well understood, although they are believed to be a combination of biological and lifestyle factors.

Ms Collett said despite her diagnosis being relatively simple compared to other mental health issues, it was "frustrating" that there still wasnt a clear diagnosis and treatment for many sufferers.

Its hoped that new research from QIMR Berghofer Medical Research Institute could help change that, with scientists there identifying key areas on the human genome with direct links to depressive symptoms.

Senior study investigator Professor Eske Derks said the research uncovered seven distinct regions on the human genome with links to symptoms.

"We identified, for the first time, three genetic regions related to sleep problems, two for anhedonia [a loss of interest or pleasure in life], one related to changes in appetite, and one for depressed mood," Professor Derks said.

Overall, about one in 11 people, or 9 per cent of Australians, reported having depression or depressed feelings in 2014-15, according to figures from the Australian Bureau of Statistics.

The QIMR findings provide insight into why the symptoms of depression can vary hugely between patients, and they point the way to more targeted therapies.

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"In some patients, depression will manifest as a reduced appetite, while for others, there will be increased appetite," Professor Derks said.

"So normally if youre looking for the genetic risk factors for depression, you tend to collapse all of these symptoms together, even though they can be quite different from patient to patient."

Professor Derks said being able to accurately assess exactly what genes were in play for individual patients meant they would be able to get tailored treatment instead of the current method of "trial and error", where patients are prescribed the most common medication and then put on other drugs if that fails.

Ms Collett said it would be a comfort going forward to have a more certain diagnosis.

"Im naturally curious about my own health situation, so it would be really good to know the underlying reason why I have it. Was it genetics? Was it something that happened when I was a kid? Who knows?" she said.

The study, which examined genetic data and self-reported symptoms from 150,000 people from the UK Biobank, has been published in the journal Psychological Medicine.

Stuart Layt covers health, science and technology for the Brisbane Times. He was formerly the Queensland political reporter for AAP.

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Clear link between genetics and depressive symptoms uncovered - The Age

Genomic Predictions DNA test for embryos claims it can predict diseases and alert parents

A New Jersey-based startup developed what it claims to be a genetic test capable of predicting a number of common diseases in embryos. The company, called Genomic Predictions, has been approached by dozens of parents-to-be from across the world in hopes of having the start-up help them weed out embryos more inclined to develop certain diseases later in life, such as cancer and diabetes. Although Genomic Predictions new test is in its infancy, the company has already come under fire by many in the academic and scientific communities, with some depicting the test as both impractical and unethical.

Genomic Predictions has been around for several years now, using various computing technologies, AI and machine learning to research genomes and discover novel ways of predicting phenotypes. Weve always thought that one of the best and earliest applications of this would be embryo selection because we can help families have a healthy child, said Stephen Hsu, the companys co-founder, in an interview for GEN.

Last month, Genomic Predictions finally unveiled a test which it claims can utilise DNA data to predict the likelihood of embryos from an IVF procedure to develop any of 11 types of diseases. As reported by MIT Review, the test, called LifeView, will measure IVF embryos DNA from hundreds of thousands of genetic positions and generate estimates regarding chances of having diseases such as diabetes, heart attacks, and five types of cancer. The test would also alert parents about how likely it is that their child will end up among the shortest 2 per cent of the population or the lowest 2 per cent in intelligence.

Genomic Predictions then hands parents report cards containing the testing results for each embryo so they could implant the ones they deem to be the healthiest out of the batch.

So far, the company reported that 12 clinics around the worldin Nigeria, Peru, Thailand, Taiwan, and the USwill order its new test. The few interested clients are mostly well-off professionals wanting to reduce their childs risk of having diseases that may run in the family. Genomic Predictions first set of clients, for instance, is a gay couple undergoing IVF with a surrogate mother who want to ensure their child wont have breast cancer. Another couple, who have two children with autism, want their third child to be neuro-typical; something they hope the LifeView test could help them achieve.

For the most part, however, clinics are extremely hesitant about ordering this new test, as many scientific experts and researchers voiced harsh criticism of it. It is irresponsible to suggest that the science is at the point where we could reliably predict which embryo to select to minimize the risk of disease. The science simply isnt there yet, tweeted Graham Coop, a geneticist at the University of California, Davis. A research by The Hebrew University of Jerusalem also concluded that attempting to predict the height and intelligence of an embryo is pretty much a futile attempt at this point in time. Others, such as Santiago Munne, an embryo testing expert and entrepreneur, suggest that the great uncertainty that comes with this type of testing would be off-putting for many doctors and client as well as a source for potential disappointment.

And lets not forget about the immense psychological strain such a test can place on children who find out theyve been selected out of a pool of embryos in order to be healthy. What if they do end up developing one of these diseases after all this money had been spent?

While a parents urge to do all in their power to prevent their child from being ill is understandable, this genetic selection process sets us on a very slippery slope. It seems that endeavours such as LifeView constitute a mere hop, skip and a jump away from genetically editing babies, and cater to our growing appetite to design what we perceive to be the perfect human. Naturally, we should support the scientific communitys efforts to find cures and solutions to prevent terrible diseases, but is phenotyping the answer? This approach all but ignores the slew of external and environmental factors that heavily impact someones chances of developing such diseases, including diet, lifestyle, stress, and someones mental state. It could be argued that no less attention should be placed on tackling the latter, as opposed to try and manufacture a flawless human being.

So far, tests like LifeView appeal only to couples using IVF, a process that is long, uncertain, invasive and prohibitively expensive. Some at Genomic Prediction, however, contend that IVF will be the future, claiming that even fertile couples would choose to undergo the process in order to reduce the chances of disease in their children. As such technologies proliferate, we must remain critical and alert of their application and the direction in which it takes our society. Crafting the perfect human and labouring to prevent any flaws in our children could cost us a great deal. Much more than an IVF treatment.

Genomic Predictions DNA test for embryos claims it can predict diseases and alert parents

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Genomic Predictions' DNA test for embryos claims it can predict diseases and alert parents - Screen Shot

MENLO PARK, Calif.--(BUSINESS WIRE)--Personalis, Inc. (Nasdaq: PSNL), a leader in advanced genomics for cancer, today announced the launch of Personalis Cancer Whole Genome Sequencing which further extends Personalis portfolio of comprehensive cancer genomics services designed to maximize biological insights from tumor samples.

This new offering continues our push to provide our customers genomics solutions that enable deeper insights into patient responses to oncology therapies, said John West, CEO of Personalis. We are uniquely poised to provide a leading cancer whole genome sequencing solution which combines Personalis deep technology and experience in analyzing cancer samples for biopharma oncology clinical trials and the large-scale laboratory and data systems developed for the VA MVP program, one of the largest whole genome sequencing programs in the world.

Earlier this year, Personalis was awarded a new task order under its contract with the U.S. Department of Veterans Affairs (VA) for the VA Million Veteran Program (VA MVP). This order brought the cumulative scale of orders received to date from the VA MVP to over 110,000 human genomes. Since 2013, Personalis has sequenced over 40,000 MVP samples. Personalis anticipates it will sequence the additional samples over the coming years as they are received from the VA.

As our understanding of the complexity of underlying mechanisms of cancer grows, it is becoming increasingly important to evaluate genome-wide structural variants, and other forms of non-coding genetic variation, commented Dr. Richard Chen, CSO of Personalis. This new service advances our position at the leading edge of cancer translational research with biopharma customers.

About Personalis, Inc.

Personalis, Inc. is a growing cancer genomics company transforming the development of next-generation therapies by providing more comprehensive molecular data about each patients cancer and immune response. The companys NeXT Platform is designed to adapt to the complex and evolving understanding of cancer, providing its biopharmaceutical customers with information on all of the approximately 20,000 human genes, together with the immune system, from a single tissue sample. Personalis also provides genomic information to the VA Million Veterans Program as part of their goal to sequence over a million veteran genomes. The Personalis Clinical Laboratory is GxP aligned as well as CLIA88-certified and CAP-accredited. For more information, please visit http://www.personalis.com and follow Personalis on Twitter (@PersonalisInc).

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Personalis, Inc. Expands Oncology Portfolio With the Launch of Cancer Whole Genome Sequencing Services - Business Wire

Matt Hancock has backed genome testing for healthy newborn babies, but how sound are his claims? Elisabeth Mahase reports

The media have reported that the health and social care secretary, Matt Hancock, and Genomics England are looking to launch a pilot next year in which parents will be asked whether they want their babies genomes tested to identify inherited diseases and whether they are at high risk of developing certain conditions later in life.12 Genomics Englands chief executive, Chris Wigley, said he hoped that around 20000 parents would take up the offer.

Hancock then took to Twitter to share the Timess article about the plan, saying, This is brilliant newsjust imagine how many lives can be saved when we know the genetic risks we face.3

David Curtis, honorary professor at University College Londons Genetics Institute, thinks not. He told The BMJ that Hancocks claim that the tests would be life saving was extremely misleading.

He said, Its difficult to think of any circumstances in which such a test could make a substantial difference, with the exception of tests for cancer causing mutations such as in the BRCA genes. But if these are indicated they can readily be performed in an adult who can consent to the testing procedure.

In a blog post in February Scott Grosse, from the US National Center on Birth Defects and Developmental Disabilities, warned, Genomic sequencing of healthy infants and children in particular could pose risks of harm due to uncertain validity and, in the vast majority of cases, limited clinical actionability or utility.4

The consultant clinical geneticist Frances Elmslie, executive committee member of the British Society for Genetic Medicine, said that current technology was good and was already used in the NHS for children with signs of an underlying problem without a known cause and for very specific rare diseases.

However, she said, if a baby was healthy, were not very good at working out, when we find something, if its going to cause a problem, unless its something well established like cystic fibrosis genetic changes.

Currently, patients are offered genetic testing through the NHS if their doctor thinks they could have a health condition caused by a change to one or more genes, if someone in their family has such a condition, if a close relative has cancer that could be inherited, or if the person or their partner has a condition that could be passed on to their children.5

Curtis said that there was a widespread misconceptionwhich Hancock himself has fuelledthat genetic tests can provide useful information about risk.

Although he can predict the probability of getting heads in a coin toss as 0.5, Curtis would still have no idea whether he would get heads. In the same way, if general background risk were 12%, and a genetic test accurately told someone they had a 14% risk, then they have learnt nothing useful at all.

Curtis warned that there was a danger of significant harm from misinterpretation of this information, as people may become unnecessarily worried or erroneously reassured, and change their behaviour towards their health and life for the worse.

Elmslie said that the plans also suggested use of polygenic risk scores, which predict the risk of someone developing a condition, such as Alzheimers disease, that is caused by a combination of genetic and environmental factors. Were really not very good at this at all, she said. And what use is that at the moment? It might be useful in 40 years time, when we have some sort of better prevention method, but at the moment we dont have that. So telling parents their child might develop this condition in the future is not that helpful.

The plans have also raised concerns around ethics and data security. Curtis said, The only justification to perform an investigation on a child who is unable to provide consent is that some immediate action is required. Most genetic tests have been developed mainly from people with white European ancestries and will work less well in patients from other ethnic backgrounds, he pointed out. He also warned that the information could end up in the hands of government agencies and commercial companies.

Hancocks suggestion that this scheme is going to be life saving is misleading. Aside from the ethical and data concerns about testing healthy babies genomes, the technology doesnt seem to be ready for the NHS and could lead to more harm than good. Any screening programme of this kind would need to adhere to the criteria of the National Screening Committee, including that the benefit gained by individuals would outweigh any harms such as overdiagnosis, overtreatment, false positive results, false reassurance, uncertain findings, and complications.6

The Department of Health and Social Care for England did not respond to The BMJs request for comment, and Genomics England would not provide The BMJ with any details of the pilot.

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Will genome testing of healthy babies save lives? - The BMJ

By Clare Wilson

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Plans for the National Health Service to sequence the DNA of every baby born in the UK, starting with a pilot scheme of 20,000 children, were announced by health minister Matt Hancock this week. It sounds like the UK is leading the way in high-tech healthcare but doctors are saying the idea is ethically questionable.

Babies are already tested for certain health conditions soon after birth, so it may seem as though sequencing their genome, their entire set of genes, is a simple upgrade of this routine screening, but that isnt the case.

UK babies are tested for nine carefully selected conditions, all of which can be avoided or lessened with pre-emptive treatment. For instance, the metabolic disorder phenylketonuria can cause brain damage, but this can be avoided through a low-protein diet.

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Unfortunately, most illnesses arent as simple or treatable. We are only at the beginning of our journey to understand the complexity of the human genome, and some of the information we have learned so far can create difficult dilemmas.

Take the genetic condition Huntingtons disease, which starts with mild symptoms in middle age, eventually progressing to severe disability and early death. There is no cure.

When people learn that Huntingtons is in their family, they may spend years deciding whether to take the test. Many choose not to. Parents who ask doctors to test their child are turned down, as set out in international guidelines. Deciding to learn if you have the gene responsible is such a personal choice that it must be left to the individual concerned once they turn 18.

Huntingtons is rare, but there are similar dilemmas over more common conditions such as genes that predispose people to Alzheimers disease and some types of cancer. There is currently little you can do to avoid dementia, and for women who learn they have a certain gene that increases cancer risk, the safest step is to have their breasts and ovaries removed.

Some people would rather not know about these risks before it is necessary. We have endless discussions about [the ethics of] testing children for conditions that dont manifest until later life, says Frances Elmslie of the British Society for Genetic Medicine.

Nor would it make sense to sequence children at birth then wait until they are 18 to give the results. In the intervening years, DNA sequencing is bound to become cheaper and more powerful. It would make more sense to offer it to every 18-year-old, says Martin Brunet, a family doctor in Surrey, UK.

There is a small group of children for whom genome sequencing can be useful: those with rare undiagnosed medical conditions. In one study, sequencing led to a diagnosis in a fifth of children in intensive care, and that figure is likely to improve over time. In these cases, parents can consent for their children because there is a medical benefit but that is very different to sequencing everyone out of curiosity.

A US group has begun a small trial of routine genome sequencing of healthy babies. The families are being monitored to see how they cope and to measure any harms and benefits.

No details are available about the UK plans and Hancock didnt respond to New Scientists requests for comment. But introducing sequencing for everyone is a massive step. It will require public consultation over the ethical questions not to mention on practical issues like how the data will be stored securely and the impact on doctors workloads, says Elmslie. We need to think really carefully about this.

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Sequencing the genome of every UK baby would be an ethical minefield - New Scientist News

from the knowing-too-much dept

The cost of sequencing every DNA "letter" in a human genome has fallen faster than Moore's Law, from around $100 million in 2001, to under $1,000 today (although some say the overall cost in a clinical context is higher). This brings with it the prospect of routinely carrying out full-genome sequencing for everyone. That's precisely what Matt Hancock, the UK's Health Secretary, has said he wants to see as a part of the country's National Health Service (NHS), reported here by The Telegraph:

"My ambition is that eventually every child will be able to receive whole genome sequencing along with the heel prick test [a basic test for genetic conditions]," he told the conference.

"We will give every child the best possible start in life by ensuring they get the best possible medical care as soon as they enter the world. Predictive, preventative, personalised healthcare -- that is the future of the NHS -- and whole genome sequencing and genomics is going to play a huge part in that," he said.

Creating a massive database of near-complete genomes will probably ring alarm bells for Techdirt readers. Just recently, US police have started obtaining warrants to search entire DNA databases, even of people who opted out of allowing law enforcement to access their genomic data. That's despite the fact that "touch DNA" is mostly guesswork, and that crime lab testing is beset with problems. Moreover, a mistaken belief that DNA is infallible can lead to innocent people being charged with serious crimes like murder.

It's true that DNA can be a very powerful tool for solving crimes by finding distant matches in publicly-available genetic data, and then constructing family trees to narrow down the possible suspects. But that fact also exposes why routinely obtaining someone's DNA, as Hancock proposes for newborns in the UK, has an important impact on anyone related to the person whose whole genome is sequenced.

Even when DNA databases of a complete population are not set up for the purposes of mass surveillance, as Kuwait proposed (but then scaled back), and as China is implementing in Xinjiang as a way of controlling the local Uyghur population, there are other serious issues that need to be considered.

For example, the Telegraph article notes that full-genome sequencing of newborns means "parents could choose to be alerted to the fact their child faced heightened risks of specific diseases, and allow the NHS to offer more tailored treatment." But would parents necessarily welcome knowing that their child is more likely than the average individual to develop some serious genetic condition at some point in their lives? And what about if that condition had no treatment at present? What is gained by knowing of the risk? Might parents, and later the affected children themselves, find that knowledge almost too much to bear -- a genetic sword of Damocles hanging over them all their lives? Equally, parents might feel guilty if they don't ask for this information, which could allow for earlier treatment of diseases.

There's no doubt that full-genome sequencing will have a major impact on medicine in the decades to come, and offers the hope of more targeted and more effective medicines for many conditions. But for the benefits to be realized, doctors and genetic counselors will need to find effective ways to talk to people about what the detailed but probabilistic information revealed by their complete genomes will mean for their future health and treatments. Only then can we make informed decisions that enhance our well-being and happiness.

Follow me @glynmoody on Twitter, Diaspora, or Mastodon.

Filed Under: babies, dna, health minister, matt hancock, nhs, privacy, surveillance, uk, uk health secretary

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Health Minister Wants Full-Genome Sequencing Of Every Newborn Child In UK To Become Routine - Techdirt

SOMETIME NEXT year, if all goes to plan, a gay male couple in California will have a child. The child in question will have been conceived by in vitro fertilisation. In this case a group of eggs from a female donor are now being fertilised by sperm from both fathers (half from one, half from the other). Of the resulting embryos, the couple will choose one to be implanted in a surrogate mother. An uplifting tale of the times, then, but hardly a newsworthy event. Except that it is.

Where the story becomes newsworthy is around the word choose. For the parents, in conjunction with a firm called Genomic Prediction, will pick the lucky embryo based on a genetically estimated risk of disease. Such pre-implantation testing is already used in some places, in cases where there is a chance of parents passing on a condition, such as Tay-Sachs disease, that is caused by a single faulty gene. Genomic Prediction is, however, offering something more wide-ranging. It is screening embryos for almost 1m single-nucleotide polymorphisms (SNPs). These are places where individual genomes routinely differ from one another at the level of an individual genetic letter. Individual SNP differences between people rarely have much effect. But add them up and they can raise or lower by quite a lot the likelihood of someone suffering a particular disease. Generate several embryos and SNP-test them, then, and you can pick out those that you think will grow up to be the healthiest.

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Much fuss was made last year about a researcher in China, He Jiankui, who edited the genomes of two human embryos in order to try, he claimed, to make them immune to infection by HIV, the virus that causes AIDS. What Genomic Prediction proposes is different. No editing is involved. There is thus no risk of harming a child by putting it through a risky experimental procedure. Whether Genomic Predictions particular technique will actually deliver super-healthy children remains to be seen. The principle seems plausible, though. History may therefore look back on this moment as the true beginning of designer babies. And the tool that has made that possible is called GWAS.

GWAS stands for genome-wide association study. It is the endpoint of a historical process that began in the mid-19th century with Gregor Mendel, a Moravian abbot and amateur botanist. Mendel worked out the first set of rules of heredity. This led to the idea of a gene. And that, when allied with the discovery that the material of heredity is a chemical called DNA, which encodes genetic information in the order of its component units, known as nucleotides, led to the idea of a gene being a particular piece of DNA that carries in its nucleotides the blueprint of a particular protein. This protein goes on to contribute, in combination with environmental effects such as nutrition, to a particular bodily or behavioural characteristic, known as a phenotypic trait.

Since the 1950s, researchers have tried to quantify the relative contributions of genes and the environment to such traits. Mostly, this is in the context of disease. But behavioural characteristics, personality and cognitive ability have also been matters of interest. GWAs expands this process by looking not just at the effects of individual genes, but across the whole genomefor protein-coding genes make up only about 2% of a persons DNA.

Comparisons, over several generations of a family, of the prevalence of a particular trait yield estimates of its heritabilitya measure of how well individual genetic differences account for variations in that trait in a given population. A heritability of 100% indicates that any differences in a trait between individuals in that population are accounted for solely by genetic factors, while 0% suggests the environment alone is responsible. The phrase given population is important. Some populations may be exposed to relevant environmental variables unknown to others. Conversely, genetic factors present in one group (better response to oxygen scarcity in those evolved to live at high altitude, for example) may be absent in another.

An analysis published in 2015 of more than 2,700 studies of heritability shows that its average value, for all traits looked into in those studies, is about 50%. That includes physical traits like susceptibility to heart disease (44%) and eye disorders (71%), and mental ones, including higher-level cognitive functions (47%) such as problem-solving and abstract thought.

Other, less obvious traits are heritable, too. The amount of time a child spends watching television was assumed for many years to have a heritability close to zero. In 1990, however, a study led by Robert Plomin, now at Kings College, London, compared the habits of adopted children with those of their birth mothers. It found television-watching has a heritability of about 45%. Similar surprisingly heritable traits include a childs tendency to be bullied at school (more than 70%) or to be accident-prone (51%). Even someones likelihood of being religious (30-40%) or of getting divorced (13%) is heritable.

In 1989 James Watson, the first head of the Human Genome Project, summarised the mood of many by declaring that We used to think our fate was in our stars. Now we know, in large measure, our fate is in our genes. There was hope then that the genome project would locate those genes. No one was naive enough to think that there existed, say, such a thing as a gene for television-watching. But it was reasonable to believe that there might be a handful of genes which combined to encourage television-watching indirectly. More important, there was an expectation that the heritable causes of things like heart disease might be pinned down to such genetic handfuls. These might then be investigated as drug targets. To everyones frustration, though, few such genes revealed themselves. And in most cases the contributions they made to a conditions heritability were small. Where, then, was the missing heritability?

With hindsight, the answer was obvious. The number of variants that play a role in disease risk is far higher than Mendel-blinded researchers had imagined. Though human beings are genetically more than 99.9% alike, they have 6bn genetic letters in their genomes. This is where the SNPs are hidden, for a diversity of less than 0.1% still leaves room for millions of them. And when SNPs contributions are combined, their effects can be significant. For height, for example, the number of relevant SNPs is reckoned to be about 100,000each adding or subtracting, on average, 0.14mm to or from a persons adult stature. Furthermore, most of these SNPs are in parts of the genome that do not encode proteins at all. Rather, they regulate the activities of other genes and often have no obvious connection to the trait in question.

To be fair, it was mainly human geneticists who were captivated by the simple Mendelian model of single genes with big effects. According to Peter Visscher of the University of Queensland, Australia, many plant and animal scientists knew of traits genetic complexity long before the Human Genome Project started. But they were more interested in breeding better crops or livestock than in understanding the biology behind such complexity.

Dr Visscher was one of the first to realise that human studies would need to recruit more participants and screen for many thousands more SNPs if they were to capture in full the genetic components of most traits. In 2007 he and his colleagues used models to show that for a condition with a prevalence of 10% in the general population, approximately 10,000 volunteers are required to identify the SNPs marking the 5% of those at highest risk of developing that condition. Earlier studies, often with just a few hundred participants, had simply not been powerful enough to see what was going on. And thus was GWAS born.

Ideally, a GWAS would obtain a full sequence of the genome of every participating individual. However, even though the cost of such sequences has fallen dramatically since the completion of the genome project, to about $1,000 a shot, this would still be prohibitively expensive. Instead, researchers use devices called SNP arrays. These detect hundreds of thousands of the most common SNPs for a price of $50 or so.

A combination of SNP arrays, larger samples of volunteers and better computing methods means it is now possible to find millions of variants that contribute to a trait. An individuals score from these variants, known as his polygenic score, can then be calculated by adding up their contributions to give, for example, his risk of developing a particular disease in later life.

Another advance has been a change in the way volunteers are recruited. Institutions called biobanks have come into existence. These hold both tissue samples from, and a range of medical and other data about, large numbers of people who have agreed to make those data available to researchers who meet the criteria employed by the bank in question.

Among the largest of these repositories is the UK Biobank, in Britain. This has 500,000 depositors. One study that drew on it, published in 2018 by Sekar Kathiresan of the Massachusetts General Hospital in Boston and his colleagues, worked out polygenic risk scores for five diseases, including coronary heart disease and type 2 diabetes. By totting up scores from over 6m genetic variants, they were able to elucidate SNP patterns that identify those who are at a threefold higher risk or worse than the general British population of developing one of these diseases. For heart disease, 8% of the population are at such risk. For type 2 diabetes, 3.5%.

Nasim Mavaddat of the University of Cambridge and her colleagues have similarly calculated polygenic risk scores for breast cancer. These showed that a British womans average ten-year risk of developing breast cancer at the age of 47 (the earliest that Englands National Health Service begins screening for the disease) is 2.6%. The study also found that the 19% of women who had the highest risk scores reached this level of risk by the age of 40. Conversely, the 10% at lowest risk did not cross the threshold until they were 80.

Using these and similar studies, it is possible to draw up lifetime risk profiles for various medical conditions. A British firm called Genomics has done that for 16 diseases (see chart). This will help screening programmes to triage who they screen, by offering their services earlier to those at high risk of developing a condition early in their lives. It will also permit the dispensing of risk-appropriate advice about diet and exercise to those who need it most, and the early offering to those who might benefit from them of things like statins and antihypertensive drugs. In light of all this Englands National Health Service announced in July that 5m healthy Britons would be offered free gene tests.

A third study that drew on the UK Biobank is rather different. It was published in October and demonstrated the power of GWAS to reach beyond non-medical matters. It examined patterns of internal migration in Britain, and showed that there has been an outward migration from former coalmining areas of people with SNP patterns associated with high educational attainmentprecisely the sorts of individuals economically deprived places can least afford to lose.

Educational attainment also demonstrates how heritability varies with environment. In Norway, for example, heritability of educational attainment increased after the second world war as access to education widened. Since all children now had more or less the same opportunities at school, environmental variation was largely ironed out and the effects of genetic differences consequently exaggerated.

Both of these examples foreshadow how the sort of genetics made possible by GWAS can have political consequences. The implication of the internal-migration study is that the geographically left-behind are dimmer, on average, than the leavers. The implication of the Norwegian study might likewise be seen by some as suggesting that those who have done well at school and thus snagged the best (and best-paid) jobs are part of a genetic elite that deserves its success, rather than being the lucky winners of a genetic lottery.

And that is just within a country. Start comparing people from different parts of the world and you enter a real minefield. Because most of the genetic data now available come from populations of European ancestry, their predictive power is poorer for people from elsewhere. Alicia Martin of the Broad Institute in Massachusetts and her colleagues scored West Africans for height based on SNPs drawn from studies on European or European-derived populations. The scores predicted that West Africans should be shorter than Europeans. Actually, they are not.

As more people of non-European ancestry are sequenced, these problems may abate. But if group-based differences emerge or persist in the face of better data, that would be cause for concern. Differences between groups in things like height are rarely cause for prejudice beyond a jocular level. For something like educational attainment, by contrast, there is a risk that politically motivated groups would try to exploit any differences found to support dubious theories of racial superiority.

To some historians, this looks horribly familiar. They fear that the old spectre of eugenics risks rising in a new guise. As Nathaniel Comfort of Johns Hopkins University, in Baltimore, observes, The IQ test was invented in order to identify students who needed extra help in school. But within about a decade, it was being used as a tool to weed out the so-called feebleminded, not just from school but from the gene pool. Such fears of genetic stratification would become particularly acute if polygenic scores were applied to embryos for the purpose of selecting which to implant during IVFas Genomic Prediction is just about to do.

Genomic Prediction and a second firm, MyOme (which is not yet accepting customers), claim to be able to build up an accurate picture of an embryos genome. That is tricky because the sequencing has to be carried out using the tiny quantities of DNA in a few cells taken from that embryo. A sequence so obtained would normally be full of errors. The two companies say they can deal with this by comparing embryonic sequences with those of the biological parents. All of the DNA in the embryo has come from one or other parent, so blocks of embryonic DNA can be matched to well-established sequences from their parental progenitors and an accurate embryonic sequence established. That makes working out the embryos SNP pattern possible.

Genomic Prediction thus says it is able to offer couples undergoing IVF a polygenic risk score for each embryo for a variety of diseases including type 1 diabetes, type 2 diabetes, breast cancer, testicular cancer, prostate cancer, basal-cell carcinoma, malignant melanoma, heart attack, atrial fibrillation, coronary artery disease, hypertension and high cholesterol. At the moment it does not offer scores for non-medical traits like height or educational attainment. But there is nothing to prevent it from doing so should it so wish.

Even for medically relevant scores, however, some worry about this approach. One concern is pleiotropythe phenomenon of the same piece of DNA influencing several apparently unrelated traits. Choosing an embryo with a low risk of heart disease might accidentally give it, say, a higher chance of developing epilepsy. Single-mindedly maximising scores for positive traits like intelligence or height may therefore increase the risk of genetic disorders.

Stephen Hsu of Michigan State University, one of Genomic Predictions founders, acknowledges the theoretical risk of this, but argues that serious pleiotropic effects are unlikely. If you looked at a bunch of kids with IQs of, say, 160 or 170, he says, I doubt youd find much seriously wrong with them. Theyd just be a bunch of geeks. Dr Hsu, who in 2014 predicted that reproductive technologies would soon be used to select for more intelligent offspring, estimates that an IQ gain of between 10 and 15 points would be possible if couples were allowed to choose between ten embryos. He also thinks that further gains would probably accumulate if people selected in this way went on to select their own offspring on the basis of intelligence.

This is plausible. Before 2008, when the first SNP chips for cattle became available, the annual milk yield of dairy cows in America had been increasing at about 50kg per year. After six years of chip-based polygenic selection, the rate of increase had doubled to more than 100kg per year. This suggests the technique is powerfulin cattle at least. Despite Dr Hsus optimism, however, pleiotropism has reared its head in these animals. They have become less fertile and have weaker immune systems.

In the end, then, it is generally a good idea to remember that human beings have already been optimised by a powerful agent called natural selection. Trade-offs between different pieces of physiology, even in domestic animals, will have been forged in the crucible of evolution and will generally be optimal, or close to it. Genetic tinkering may sometimes improve things. But by no means always.

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Modern genetics will improve health and usher in designer children - The Economist

As of today, Podcasts on Pandora are now available for all users on the Pandora website and on its desktop app for Mac and Windows. The company first launched podcasts on its app last year, leveraging its Podcast Genome Project, an offshoot of Pandoras Music Genome Project, which can personalize podcast recommendations down to an individual episode level.

Pandora is banking on this hyper-personalization, and says its system uses more than 1,500 attributes from the shows MPAA ratings to a users listening history to drill down on shows it thinks youd like to listen to, along with specific episodes. This is mostly done with the Podcast Genome Projects algorithms, but theres still a human curation component involved to help guide recommendations.

Since launching podcasts in 2018, Pandora says its podcast offerings have grown from around 100,000 episodes to over 600,000 episodes, spread across a variety of genres like comedy, music, news, and more. Backing this effort, the platform also introduced its self-service Pandora for Podcasters online hub earlier this year, providing a centralized place for podcast creators to submit their shows for inclusion in Pandoras catalog.

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Podcasts are now available on Pandoras website and desktop app - The Verge