Daily Archives: November 13, 2019

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).

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

By Clare Wilson

Tetra Images/Getty Images

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.

Advertisement

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.

More on these topics:

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

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.

See the original post:
Will genome testing of healthy babies save lives? - The BMJ

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

See the article here:
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.

Upgrade your inbox and get our Daily Dispatch and Editor's Picks.

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.

See original here:
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.

See the original post:
Podcasts are now available on Pandoras website and desktop app - The Verge

By Michael Le Page

Beverley Thain / EyeEm/Getty Images

A project to sequence the genomes of 60,000 species of animals, plants, fungi and complex cells such as amoeba found in the British Isles is about to get under way. The Darwin Tree of Life project has raised the 9 million needed to collect and barcode the first 8000 species, and to sequence 2000 of them.

Barcoding involves finding distinctive DNA features so species can be identified by simple, quick tests. The Wellcome charity, which aims to improve health, is providing the funding because it thinks the work could have many benefits for people as well as wildlife, from finding new treatments for diseases to helping to feed a growing population.

To start with, the project aims to sequence one organism from each of the 4000 families of plants, animals, fungi and protists complex single cells in the British Isles, says Mark Blaxter, who is leading the Tree of Life programme at the UKs Wellcome Sanger. Species will also be chosen on the basis of how important, interesting and iconic they are, he says.

Advertisement

Read more: Biologys moonshot: The mission to decode the DNA of all life

The first set will include badgers, red squirrels, all 59 British butterflies, 40 moths and a set of beach animals and seaweeds used in climate studies.

The project is part of a larger international push to sequence the genomes of the 1.5 million species of complex life on the planet, the Earth BioGenome project, formally launched last year. The organisers say it can be done for around $5 billion or around $3000 per species. Critics say simply getting samples of rare species could cost this much.

More on these topics:

Read this article:
The grand plan to sequence the genomes of 66,000 UK and Irish species - New Scientist News

The University of Vermont Health Network, along with partners Invitae and LunaPBC, launched a pilot project on November 1, to offer the Genomic DNA Test as part of its clinical care. The test will provide information for 147 genes that are indicators of increased risk for certain diseases including hereditary cancers, cardiovascular conditions, and other medically important disorders for which clinical treatment guidelines are established. The test also screens for carrier status for other diseases.

Our overall health and longevity are determined about 30% by genetics, said Debra Leonard, M.D, Ph.D., chair, Pathology and Laboratory Medicine at UVM Health in a press release. But until now, most of our clinical health care decisions have been made without understanding the differences in each individuals DNA that could help guide those decisions.

The Genomic DNA Test will be offered over the next year to 1,000 patients who are over 18 years old, are treated by a UVM Health Network Family Medicine provider, are not pregnant, or the partner of someone who is currently pregnant, and are part of the OneCare Vermont Accountable Care Organization (ACO). The testing will be conducted by Invitae on healthy individuals who opt in to the pilot and will be provided with information about their potential risk of developing diseases like cancer or heart disease based on their genetic make-up, with the potential to adjust their healthcare and lifestyle to help mitigate some of these risks.

Nearly one-in-six healthy individuals exhibit a genetic variant for which instituting or altering medical management is warranted, said Robert Nussbaum, M.D., Invitaes chief medical officer in a prepared statement. Genetic screening like the Genomic DNA Test in a population health setting can help identify these risk factors so clinicians can better align disease management and prevention strategies for each patient.

The test and any pre- and post-test genetic counseling services will be provided to pilot project participants at no charge and results will become a part of each patients medical record and available to the patient and all of his or her healthcare providers.

In addition to providing patient-specific information that can help determine health and wellness decisions, patient genomic data can also be used in for broader research applications that are helping to unravel the genetic basis for a number of diseases.

Patients who are interested in making their data available for research purposes can share their data through LunaDNA, the sharing platform of pilot project partner LunaPBC. Patients who choose to share their data with researchers will become shareholders in LunaPBC, a public benefit corporation owned by the individuals who provide their genomic data to the company. Data provided by LunaDNA to researchers I de-identified to protect the privacy of its member-owners. In the future the patients will also be able to shareand receive additional LunaPBC share forlifestyle, nutrition and environmental data.

Vermonters who choose to share their genomic data for research will play a leading role in the advancement of precision medicine, said Dawn Barry, LunaPBC president and co-founder. This effort puts patients first to create a virtuous cycle for research that doesnt sacrifice patients control or privacy.We are proud to bring our values as a public benefit corporation and community-owned platform to this partnership.

According to UVM Health, the pilot program, run through the ACO is a step toward moving to a value-based healthcare system.

Vermont and other states are moving away from fee-for-service health care and toward a system that emphasizes prevention, keeping people healthy, and treating illness at its earliest stages, Leonard said. Integrating genetic risks into clinical care will help patients and providers in their decision-making.

Go here to see the original:
UVM Health Taps LunaPBC, Invitae on Genomic Testing Pilot Project - Clinical OMICs News