Category Archives: Genetic medicine

The healthcare provider organization is a crucial participant in a fast-evolving ecosystem around precision medicine, which includes pharma and biotech companies, medical device manufacturers, national research organizations, academic medical centers, patient advocacy groups, and others.

According to the Precision Medicine Initiative, precision medicine is an approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyles.

Precision medicine and personalized medicine often are used interchangeably, but have slightly different connotations with the former focused more on the clinical realm of genomics and the latter taking a more expansive view of social and behavioral health.

Both hold huge potential for better health outcomes but also require complex and challenging technology deployments, changes to clinical workflow, and education for physicians and patients alike.

It is important that the provider CIO help to lead their organization into this new world by considering how existing technologies can be optimized and how new, disruptive technologies can be anticipated over multiple years of capital budget investments, said Dan Kinsella, managing director, healthcare and life science, at consulting giant Deloitte.

Of paramount importance to the typical provider CIO is how to operationalize precision medicine at the point of care. There is not a one-size-fits-all solution for healthcare providers, but there are leading practices to consider whether you are an academic medical center, an integrated delivery network or a community hospital.

In this special report, seven precision medicine technology experts from Accenture, CereCore, Chilmark Research, Deloitte and Orion Health offer healthcare provider organization CIOs and other health IT leaders best practices for optimizing this technology.

Some optimization techniques for precision medicine technologies can take place during system implementation. Implementing precision medicine technology is no different from any other IT implementation project, said Ian McCrae, CEO of Orion Health, a healthcare technology company delivering interoperability, population health and precision medicine systems.

Healthcare CIOs and other health IT leaders must get the basics of change management right by following seven steps, McCrae advised.

Ian McCrae, Orion Health

First, know what problem you are trying to solve, he said. Have this clearly defined from the outset. Dont make the mistake of trying to implement the tech if you havent identified what you will be using it for. Second, ensure the solution makes life easier and delivers a better outcome. If the project fails in either of these areas, then it will fail overall. If the precision medicine tech doesnt make life easier for clinicians, or deliver a better outcome for patients, then why are you implementing it?

Third, have clear roles and responsibilities, including data stewardship, governance and ethics, he suggested. The principles of data governance and stewardship are critical, and must not be overlooked if a project is to be successful, he said.

What are your guidelines for governing the data you will extract? he asked. These guidelines should be clearly aligned with your organizations strategic vision and values. Ethics of data use is another critical area: informed patient consent, the right to withdraw, confidentiality, objectivity the list is long.

Fourth, CIOs need to connect the dots with precision medicine technologies, McCrae advised.

Providing a better prediction without a means to act on it will be a recipe for frustration, he said. Once you have the technology to enable improved predictions, will you also have the resources to apply the learnings? If you cant deliver a better outcome for patients, then its likely your project will fail. Fifth, remember accuracy isnt necessarily the most important thing.

We often compare solutions by how often they get the answer right, without understanding what people want to do with the answer, he added. Knowing that someone is 61.3% likely to get cancer versus 59.8% isnt as important as how quickly you can know it, and what you can do when you find out.

Sixth, stick to the plan and do not get distracted by failures along the way, he said.

We find it hard to continue the development of something when the first stage isnt as successful as we had hoped, he noted. If we are aiming to make precision medicine the gold standard across different fields but the first application isnt successful, that doesnt mean you should throw out the goal.

And seventh, start with specialties where the application is clear, said McCrae. Rather than aiming to implement the tech into a multitude of areas, select one or two specialties where the value of precision medicine is clear. Learn from those before expanding into new areas.

Dr. Charles Bell, chief medical officer at CereCore, a health IT consulting firm, advised that getting the foundational infrastructure established before precision medicine can be applied via the EHR is one best practice for optimizing the use of the technology.

Precision medicine relies on genomics genomics, including pharmacogenomics, has created a vast amount of data, whereas the advent of the EHR has established an enormous data repository, he said. The success of advancing the technology is dependent on the genomic data residing in a repository that the EHR can readily provide access to. Therefore, there is a foundational infrastructure that must be established before precision medicine can be applied leveraging the EHR platforms.

Dr. Charles Bell, CereCore

Genomic medicine is currently informing clinical care. Notable examples are in the treatment of some cancer types, cystic fibrosis and heart disease.

The integration of the EHR, the data repository and the genomics medicine platform becomes essential to translate relevant and crucial data to drive precision medicine care, Bell said. A streamlined workflow must be established that allows clinicians to provide appropriate care from within the EHR using genomics and precision medicine.

Precision medicine requires capturing and analyzing complex data so that it is actionable at the point of care. Evolution of clinician workflow to support precision medicine use cases even those that are relatively simple, such as pharmacogenomics requires multidisciplinary change-management efforts and thoughtful systems integration, said Kinsella of Deloitte.

Furthermore, the challenges of leveraging next-gen sequencing data in clinical decision support exceeds the capability of current EHR systems, except in certain use-cases such as pharmacogenomics, said Kinsellas colleague Connor OBrien, manager at Deloitte Consulting.

Dan Kinsella, Deloitte

This requires external decision support analysis, which often is a manual process, such as the outputs of diagnostic review boards, although we are seeing many attempts at automation being applied, such as the decision-support platforms being deployed by GenomOncology, 2bPrecise, Syapse and others.

When it comes to oncology and other service line roadmaps, health IT leaders should work with their service-line leaders to understand any gaps they have in the technology required to enable excellence in care delivery, Kinsella suggested.

With oncology specifically, ensure that genomic requirements are understood as the capital investments may require multiple fiscal years, he said. Refine your technology roadmap for tumor boards as the future state is likely to include a variety of external contributors such as leading academic medical centers and drug and biotech companies.

Then there are social determinants of health (SDoH). Precision requires understanding of variability in environment and lifestyle in addition to genetics. While most provider organizations are oriented to patients, expansion to the notion of member as an individual who may or may not have a medical record is required, Kinsella insisted.

Value-based contracts with payers define specific cohorts (members) for whom the provider has assumed a level of accountability, he explained. Background and lifestyle questions not typically the focus of most EHR-centric workflows are crucial to the personalization of the care we deliver.

With precision medicine comeinstitutional alliance relationships, said Kinsellas colleague Kate Liebelt, a manager with the Precision Medicine Community of Practice at Deloitte Consulting.

In addition to having the logo on your website, what is the essence of your relationships with your external partners? she asked. Are you sending your data out to a registry without distilling the value of that information for care of your own patients? Increasingly, providers are licensing proprietary data to industry partners. For example, Cancer Commons is a not-for-profit network focused on connecting patients, physicians and providers to access cutting-edge personalized treatments beyond the traditional standard of care, through data sharing.

Entities like the Texas Medical Center Accelerator harness innovation and talent from area healthcare organizations and generate start-up companies with regional, local and international reach, she added.

Real-world evidence is driving innovation in value-based contracting and reimbursement strategies as demonstrated by the CMS Oncology Care Model a new payment and delivery model designed to improve the effectiveness and efficiency of specialty care, she explained. Enablement of precision medicine helps AMCs continue to meet their tripartite mission of education, care delivery and research.

And on a related note, interoperability. Sending and receiving data from across the evolving ecosystem requires that one be at the top of one's game regarding interoperability and, importantly, cybersecurity and compliance from FTTP, to HL7, to FHIR APIand beyond, OBrien said.

Dont leave out your CISO or legal and compliance teams, he said. Current architectures integrate insights from external clinical-decision-support systems, with the EHR serving as the transactional system of record:insights derived from external decision support FHIR API-based integrations that trigger EHR transactions such as pre-populated order sets, modifications to problem lists, and incorporation of CLIA test reports into clinical documentation modules in EHRs.

Jody Ranck, senior analyst at Chilmark Research, a healthcare IT research and consulting firm, advised that integration of genomic data across different EHR systems and across different laboratory and precision medicine platforms is key and challenging for most organizations.

Genetic test results tend to be large files that are difficult to integrate into an EHR, he said. Therefore, having a road map for your precision medicine approach is essential to think ahead several years and analyze which clinical areas will be impacted by the precision medicine program first. Oncology tends to be the most well-developed area, but in our COVID-19 moment, we may see the need for adjustments as significant caseloads of patients are those recovering from treatment with long-term challenges and new knowledge of the virus expands.

Jody Ranck, Chilmark Research

The impact of the pandemic on precision medicine may have some long-term consequences for best practices.

There will be a distributional shift of baseline health characteristics at the population level for the datasets that machine learning algorithms were trained on and new features to these populations that may interact with specific precision medicine initiatives, Ranck said.

The pandemic also has highlighted how poorly prepared the health IT infrastructure was for a public health crisis. Future federal funding, if funded wisely, will have significant funding to enhance precision public health initiatives, particularly those that bring social determinants into the picture. CIOs will face growing pressure to find effective ways to leverage and enhance SDoH efforts through more precise allocation knowledge and financial resources to address the sequelae of the pandemic.

One best practice for optimizing precision medicine technology is to create integration standards that support treatment across ambulatory and inpatient settings, said Bell of CereCore.

The large amount of data that has been generated in both the ambulatory and inpatient settings creates a challenge for integration of the information, he said.

Standards need to be established and refined to aid in the adoption of the technology that will support precision medicine. Clinical-decision-support capabilities must be integrated within the EHR. The evolution of the use of genomics to support precision medicine is dependent on collaborative development by multiple stakeholders.

The list of requirements includes, but is not limited to, genomics specifications, clinical decision support, systems capable of handling genomic information, and resources to bridge the gaps between the data and its use clinically, he added.

An example of the use of pharmacogenetics is that of Warfarin dosing, he said. For a decade now, recommendations for Warfarin dose requirements have been influenced by gene studies. Though there continue to be questions of the effect on specific genotypes in some patient populations, there still has been an improvement in treatment of identified patients with warfarin therapy. The result is that information is gained for a more effective treatment plan and a decreased risk of potentially harmful side effects.

The more specific needs of varied patient populations can be addressed with further use of genetic data that is standardized across the patients settings, he added.

Most EHRs offer a genomics solution to address providers workflow, Bell noted. An order is entered into the system and a pathway provides information to enhance clinical decision-making. It takes into account clinical decision support as well as alternatives if genomic results do not exist or are not accessed within the system. For all vendors, including Meditech, Cerner and Epic, storage and access to genomic repositories needs to be resolved.

eMerge and ClinGen are examples of organizations, along with other resources and efforts, that are developing approaches to integrate genomic information into precise clinical care, he added.

To enable precision medicine, leading provider organizations are refreshing their existing analytics strategies, and hardening core data-management capabilities, said Kinsella of Deloitte. Note that analytics includes descriptive (reports on what happened yesterday), predictive (what might happen in the future) and prescriptive (for example, precision medicine leading practices), he explained.

Regarding reference architecture, use what you have, buy what you need and build what you must, Kinsella said. Explore the capabilities of your core enterprise applications including EHR, ERP and cost accounting, and adjust known levers for example, clinical-decision-support capabilities, lab-management systems, and billing and coding management to operationalize a precision medicine program. Focus on the tools you may require to ensure collection, curation, calculation and consumption of data to generate analytic insights.

On a related front, there are edge technologies and big data. By leveraging open source and edge solutions, providers can augment legacy analytics and data management capacity, Deloittes OBrien said.

For example, providers increasingly are commissioning data lakes to collect and curate data from a variety of internal and external sources, he noted. The velocity of data, including streaming, enables monitoring (for example, sepsis data),disease management and population health surveillance (for example, SDoH), and remote patient-monitoring, tapping into the tsunami of data generated from wearables and IoT.

The need for analysis provenance and traceability of results becomes amplified when dealing with molecular-level data, due to the dynamic nature of scientific discovery, he added.

Genomic variants that are classified as variants of unknown significance today can become clinically significant as scientific knowledge progresses, he said. These requirements will become even more critical as more dynamic types of omics data become clinically significant, such as being realized in the case of metabolomic and proteomic data. Put simply, todays information exhaust may become tomorrows rocket fuel.

In the continuous pursuit of data excellence, CIOs should collaborate with CMIOs, CNIOs and clinical informatics to ensure that key data elements are understood, configured to be captured by the enterprise applications, and, most important, align the workflow so that data is collected predictably, Kinsella said.

Registries, often a standard feature of enterprise EHRs, represent untapped potential, he noted. Typical features include definition of inclusion rules and calculation instructions for specific cohorts of patients. When, for example, does a diabetic patient get tagged as a diabetic patient in the diabetes registry?

Threaded throughout the emerging theme of precision medicine enablement is education around analytics: training in data science, and the application of descriptive, predictive and prescriptive analytics, he added. Increasingly, provider organizations are hiring in-house analytics experts and partnering with entities on their data strategies and capabilities, he said.

Review your organization strategy and align your data sharing approach accordingly, added Deloittes Liebelt. Are you motivated by social good? Academic pursuit of new science? Are you open to earning revenue by sharing de-identified data by building bandwidth to drive robust real-world evidence programs and innovative industry partnerships?

Patient registries and patient-reported outcomes-measurement are a significant means of value creation for provider organizations, particularly in the areas of oncology, rare and orphan disease, and chronic disease management, she said.

Theoretically, providers can predict and validate a patients predisposition to diabetes and track and measure their progress on various treatment regiments through the systematic collection of patient data, for example, population-level data, lab results, patient-reported outcomes, etc., she explained.

As providers continue to make their real-world data available in open, closed or hybrid networks, there is an emergence of innovative partnership opportunities with other provider organizations, pharmaceutical/biotechnology/medical device companies, health insurance companies, and publicly and privately funded research institutions.

On another front, precision medicine is a significant mind-shift for both patients and providers, and the integration of genomic data, or more importantly, knowledge, is a significant challenge, said Ranck of Chilmark Research.

The process of obtaining genetic information is not always as straightforward,and interpreting these results for a patient can be difficult, he said. Most diseases are not a one gene equals X disease type of phenomenon.

Physicians will need more time to digest precision medicine data and render this into actionable information for the patient, he said.

In the context of standard clinical workflows, this is a challenge, he observed. However, there are platforms that can reduce the burden for physicians, but rigorous evaluation of these solutions and the underlying science needs to be done by physicians and scientists with sufficient knowledge of statistics, machine learning and genetics.

Genetic counselors will be essential and may not be in adequate supply as precision medicine matures, he added. Precision medicine is not solely a technological issue and needs to be understood as socio-technical in nature.

Dr. Kaveh Safavi, senior managing director at Accenture Health, offers two best practices when trying to optimize precision medicine technology.

Good clinical practice today needs therapy to be tailored to the genetics of the tumor and the patients immune system for many types of cancer, he explained.

Dr. Kaveh Safavi, Accenture Health

From a CIO perspective, precision medicine achievements mean building a new environment for data acquisition, analysis and decision support in near real time. Oncology decision-support platforms will require managing genetic information of the patient, the patients tumor and other phenotypic data that may not be part of the typical electronic health record.

Since much of oncology care is provided in an ambulatory setting, it also will require seamless data sharing across care settings that may cross boundaries of a clinical enterprise but be essential to treating a patients condition in the most appropriate way possible, Safavi said.

And on another note, there is a growing body of knowledge that combines pharmacology and genomics to develop effective and safe medications and doses tailored to a patients genetic makeup, he said. A delicate part of a CIOs responsibility is selecting and investing in an informatics strategy to support this highly dynamic aspect of clinical care.

An informed drug-prescribing platform requires the ability to gather biological information found in genomes, microbiomes, proteomes, metabolomes, phenotypes and endotypes, he concluded, and applying them to drug-prescribing decision-support platforms used by prescribers should take into account looking for technology architectures with the greatest flexibility to predictably handle large data volumes and data types.

Twitter:@SiwickiHealthITEmail the writer:bill.siwicki@himssmedia.comHealthcare IT News is a HIMSS Media publication.

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Tech optimization: Unlocking the promise of precision medicine - Healthcare IT News

-- Agreement leverages Sareptas leadership in gene therapy for neuromuscular and cardiovascular diseases and Dynos CapsidMap artificial intelligence platform to design AAV vectors --

CAMBRIDGE, Mass., May 11, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc.(NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, and Dyno Therapeutics, Inc., a biotech company applying artificial intelligence (AI) to gene therapy, today announced an agreement to develop next-generation Adeno-Associated Virus (AAV) vectors for muscle diseases, using Dynos CapsidMap platform.

AI and machine learning technologies have the potential to deliver enhanced vectors for gene therapies. Dynos proprietary CapsidMap platform opens up new ways to identify novel capsids the cell-targeting protein shell of viral vectors that could offer improved muscle targeting and immune-evading properties, in addition to advantages in packaging and manufacturing.

Sareptas world-leading gene therapy engine is founded on three pillars: developing a broad portfolio of programs to treat rare diseases; our first-in-class manufacturing expertise; and investment in advancing and further improving the science of gene therapy to help patients in need of more options. To that end, our agreement with Dyno provides us with another valuable tool to develop next-generation capsids for gene therapies to treat rare diseases, said Doug Ingram, Sareptas President and Chief Executive Officer. By leveraging Dynos AI platform and Sareptas deep expertise in gene therapy development, our goal is to advance next-generation treatments with improved muscle-targeting capabilities.

Under the terms of the agreement, Dyno will be responsible for the design and discovery of novel AAV capsids with improved functional properties for gene therapy and Sarepta will be responsible for conducting preclinical, clinical and commercialization activities for gene therapy product candidates using the novel capsids. If successful, Dyno could receive over $40 million in upfront, option and license payments during the research phase of the collaboration. Additionally, if Sarepta develops and commercializes multiple candidates for multiple muscle diseases, Dyno will be eligible for additional significant future milestone payments. Dyno will also receive royalties on worldwide net sales of any commercial products developed through the collaboration.

This agreement is a major step forward in our plan to realize the potential of Dynos AI platform for gene therapies to improve patient health. We are excited to work with Sarepta to create gene therapies with improved properties to address a range of muscle-related diseases, stated Dynos CEO and co-founder Eric D. Kelsic, Ph.D. The success of the gene therapies developed through this collaboration with Sarepta will rely on AI-powered vectors that allow gene therapies to be safely and precisely targeted to the muscle tissue.

About CapsidMap for Designing AAV Gene Therapies By designing capsids that confer improved functional properties to Adeno-Associated Virus (AAV)vectors, Dynos proprietary CapsidMap platform overcomes the limitations of todays gene therapies on the market and in development. Todays treatments are primarily confined to a small number of naturally occurring AAV vectors that are limited by delivery, immunity, packaging size, and manufacturing challenges. CapsidMap uses artificial intelligence (AI) technology for the design of novel capsids, the cell-targeting protein shell of viral vectors. The CapsidMap platform applies leading-edge DNA library synthesis and next-generation DNA sequencing to measure invivo gene delivery properties in high throughput. At the core of CapsidMap are advanced search algorithms leveraging machine learning and Dynos massive quantities of experimental data, that together build a comprehensive map of sequence space and thereby accelerate the discovery and optimization of synthetic AAV capsids.

Dynos technology platform builds on certain intellectual property developed in the lab of George Church, Ph.D., who is Robert Winthrop Professor of Genetics at Harvard Medical School (HMS), a Core Faculty member at Harvards Wyss Institute for Biologically Inspired Engineering, and a co-founder of Dyno. Several of the technical breakthroughs that enabled Dynos approach to optimize synthetic AAV capsid engineering were described in a November 2019 publication in the journal Science, based on work conducted by Dyno founders and members of the Church Lab at HMS and the Wyss Institute. Dyno has an exclusive option to enter into a license agreement with Harvard University for this technology.

About Dyno TherapeuticsDyno Therapeutics is a pioneer in applying artificial intelligence (AI) and quantitative high-throughput in vivo experimentation to gene therapy. The companys proprietary CapsidMap platform is designed to rapidly discover and systematically optimize superior Adeno-Associated Virus (AAV) capsid vectors with delivery properties that significantly improve upon current approaches to gene therapy and expand the range of diseases treatable with gene therapies. Dyno was founded in 2018 by experienced biotech entrepreneurs and leading scientists in the fields of gene therapy and machine learning. The company is located in Cambridge, Massachusetts. Visit http://www.dynotx.com for additional information.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Sarepta Therapeutics Forward-looking StatementsThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the potential of artificial intelligence and machine learning technologies to deliver enhanced vectors for gene therapies; the potential of the CapsidMap platform to offer improved muscle targeting and immune-evading properties, in addition to advantages in packaging and manufacturing; the agreement between Sarepta and Dyno Therapeutics providing a valuable tool to develop next-generation capsids for gene therapies to treat rare disease; the parties goal to advance next-generation treatments with improved muscle-targeting capabilities; the parties responsibilities under the agreement and potential payments to Dyno Therapeutics; and the potential of AI-powered vectors to allow gene therapies to be safely and precisely targeted to the muscle tissue.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: the expected benefits and opportunities related to the collaboration between Sarepta and Dyno Therapeutics may not be realized or may take longer to realize than expected due to challenges and uncertainties inherent in product research and development. In particular, the collaboration may not result in any viable treatments suitable for commercialization due to a variety of reasons, including any inability of the parties to perform their commitments and obligations under the agreement; the results of research may not be consistent with past results or may not be positive or may otherwise fail to meet regulatory approval requirements for the safety and efficacy of product candidates; possible limitations of company financial and other resources; manufacturing limitations that may not be anticipated or resolved for in a timely manner; regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019 and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review Sarepta's 2019 Annual Report on Form 10-K and most recent Quarterly Report on Form 10-Q filed with the SEC as well as other SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

ContactsFor Sarepta: Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.comMedia: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

For Dyno:Kathryn MorrisThe Yates Networkkathryn@theyatenetwork.com914-204-6412

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Sarepta Therapeutics and Dyno Therapeutics Announce Agreement to Develop Next-Generation Gene Therapy Vectors for Muscle Diseases - GlobeNewswire

Newswise New Haven, Conn. The common belief that tumors arise via activation of a few genes that drive cancer development is unsupported by a widespread investigation into those genes and others in three large patient genetic databases, according to a study led by Yale Cancer Center (YCC) researchers. The findings were published online today in the Journal Nature Communications.

The pattern the Yale team uncovered shows that cancer develops due to combined effects of many gene variants originating both as the germline mutations, or inherited alterations in genes, and somatic mutations, changes that genes acquire after birth and over a lifespan. Some inherited germline variants do increase the risk of developing cancer, but additional somatic mutations are required for cancer to develop, usually in the third or fourth decade of life. Somatic mutations are random mutations that build up in cells as a person ages, and can substantially increase due to environmental effects, such as sunlight, cigarette smoking, diet, and exposure to various carcinogens.

In the new study, scientists found the proportion of germline variants to somatic mutations is linked to the age of cancer onset. Cancers that occur before age 50 which account for half of all cases have a greater degree of germline variations relative to somatic mutations. Likewise, investigators report that as people 50 and older age, their cancer is characterized by increasing levels of somatic mutations compared to germline variants. Thus, in younger people, a diagnosis of cancer is caused by a greater contribution of germline alterations, and late-onset cancer cancers are more dependent on acquired somatic mutations, said the researchers.

The strange thing about cancer driver genes, which had long been thought to be necessary and sufficient for cancer development, is that they do not seem to exist, said Lajos Pusztai, M.D., D.Phil., professor of medicine (medical oncology), co-director of the Genetics and Genomics Research Program at YCC, and senior author of the study. There is always some additional genetic abnormality that is also required for a cancer driver to manifest its transforming effect.

He added: Our work suggests to us that genes commonly considered cancer drivers may be more appropriately called cancer enablers because, under the right constellation of other genomic events, they enable transformation of a normal cell into cancer. In short, we hypothesize that the combined effect of other co-occurring somatic mutations and inherited germline variants together conspire to bring about cancer development.

This new understanding of cancer could have profound implications for prevention and treatment, according to the researchers. Instead of targeting just one or several cancer drivers in a given cancer type, effective cancer control may require a broader analysis of individual patient genomes and treatment that is specifically aligned with both germline and somatic mutations.

In this study, including postdoctoral fellow Tao Qing, Ph.D., the investigators analyzed three different large data sets The Cancer Genome Atlas (TCGA), the Pancancer Analysis of Whole Genomes (PCAWG) and the United Kingdoms Biobank (UKBB). The team is currently working on a cancer gene affectedness score that could be calculated for an individual and would sum up the combined effect of all deleterious germline variants. the researchers said this score could be used as new personalized cancer risk measure.

Funding for the study was provided by the Breast Cancer Research Foundation and the Susan G. Komen Foundation.

About Yale Cancer Center and Smilow Cancer Hospital Yale Cancer Center (YCC) is one of only 51 National Cancer Institute (NCI-designated comprehensive cancer) centers in the nation and the only such center in Connecticut. Cancer treatment for patients is available at Smilow Cancer Hospital through 13 multidisciplinary teams and at 15 Smilow Cancer Hospital Care Centers in Connecticut and Rhode Island. Smilow Cancer Hospital is accredited by the Commission on Cancer, a Quality program of the American College of Surgeons. Comprehensive cancer centers play a vital role in the advancement of the NCIs goal of reducing morbidity and mortality from cancer through scientific research, cancer prevention, and innovative cancer treatment.

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Study Demonstrates Impact of Both Inherited and Acquired Mutations on Cancer - Newswise

By Justin Spittler

Its easily the most overlooked megatrend Ive ever written about. Folks ignore this opportunity because its tough to wrap your head around. But its absolutely worth understanding.

The companies in this space are revolutionizing healthcare. Trillions of dollars are on the line. So, I dont expect this megatrend to fly under investors radars much longer.

In fact, the stocks at the forefront of this megatrend are waking up before our eyes. This tells me huge gains are on the horizon.

In a minute, Ill sharefour ways serious investors can profit off this revolution.But first, lets cover the basics.

Genomics is the study of all of a persons genes, and how those genes interact with each other and our own environments. By understanding all of our genes (our genome), scientists can discover secrets embedded in our DNA.

That is a gamechanger. With genetics, scientists only look at a single gene. With genomics, they examine all the genes that make up an organism. And that helps us understand human biology at a much deeper level.

Thanks to genomics, scientists can now determine at an early age what diseases a person might contract later in life. It can also help doctors detect problems earlier and more accurately treat them.

Its also helping us understand why some people who smoke, never exercise, and eat unhealthy foods live to be 100 years old. Armed with this information, scientists and doctors can better understand how someone will react to a particular drug or treatment. That opens the door for personalized or precise medicine.

People with vastly different genetic makeups receive the same treatment and the same drugs. Understanding a persons genetic makeup eliminates much of the guesswork. It will help doctors develop tailor-made solutions for every patient.

Genomics is also revolutionizing how pharmaceutical companies develop drugs. It even makes gene editing possible. Gene editing is exactly what it sounds like. Its the ability to manipulate a persons genes.

It sounds like science fiction. But scientists are already able to cut and paste mutations that cause cancer out of our DNA. I know this is all very technical. But the key takeaway here is that genomics is going to completely transform healthcare.

Breakthroughs in this field will ultimately allowbillionsof people to live longer and healthier lives. And the companies that make this happen will reap fortunes. Investors who understand this stand to make a fortune in the coming years. Of course, none of this was possible until recently.

The Human Genome Project took more than 10 years and about $3 billion to map the first human genome. Today, we can map a persons DNA in only a few hours for about $1,000.

Three years from now, the cost will fall to just $100. Thats one-millionth of what it cost two decades ago! When that happens, DNA sequencing will officially go mainstream.

By 2025, its projected that 100 million genomes will be sequenced. Thats up from 2.4 million genomes two years ago!

This will open a whole new world of understanding. Well truly be able to understand diseases on a personal level. Scientists could even use this tidal wave of information to cure cancer, HIV, pediatric blindness, and many other diseases!

And yet, the genomics revolution is completely ignored by the masses. Again, this is partly because the science of genomics will make most peoples heads spin.

The worlds biggest pharmaceutical and life sciences companies are at the forefront of this megatrend. Much smaller companies are also leading this revolution. But thats no excuse to ignore this opportunity.

Illumina (ILMN)the worldwide leader in genetic sequencinghas surged more than 188% since 2017.CRISPR Therapeutics (CRSP)a gene editing pioneersurged more than 400% in its first two years after its IPO.Editas Medicine (EDIT)another major player in the gene editing spacespiked 131% in its first two months as a publicly traded company!NeoGenomics (NEO), which specializes in cancer diagnostics, has rallied more than 5,000% since 2016!

Of course, anyone could cherry pick examples to prove their point. But this isnt the case of just a few stocks doing well.

Look at this chart. It shows the performance of theARK Genomic Revolution ETF (ARKG)since the start of 2017. This fund invests in companies at the forefront of genetic editing. Its actively managed by ARK Invest, an investment manager laser-focused on disruptive innovation.

ARKG has been on an absolute tear since the start of 2017. During that stretch, ARKG outperformed the biotech stocks by 3-to-1. It also crushed healthcare stocks by more than two-fold!

Dont worry if you missed out on this initial surge. Genomic stocks are just getting warmed up.

ARKG broke out to record highs recently. That puts the fund in the top 1% of stocks. In other words, genomics stocks are leading the market.

At RiskHedge,we focus on leaders because they deliver the biggest gains during bull markets. They also shine during bear markets. They either fall much less than most stocks or surge when most stocks are plunging. In todays uncertain environment, these are theonlystocks you should own.

Cathie Wood, ARKs CEO and founder, recently called the genomic revolution one of the most exciting investment ideas we have ever experienced.

Thats a bold statement. But its understandable. Genetic factors play a role in nine of the 10 leading causes of death in the United Statesoutside of car crashes and other accidents. In many cases, theyre the reason people get heart disease, cancer, and diabetes.

Its also estimated 1 in 5 adults may carry disease-related genetic mutations. And yet, only 5% of the diseases caused by one gene are treatable today. With gene editing that number could eventually reach 100%. According to Cathie Wood, those diseases alone represent a $2 trillion opportunity. The market for diseases caused by multiple genes issignificantlylarger!

And yet, CRISPR Therapeutics, Editas Medicine, andInvitae Corporation (NVTA)three companies pioneering gene editingaretogetherworth less than $8 billion!

The easiest way to capitalize on this megatrend is to invest in ARKG. You may also want consider investing in EDIT, NVTA, and CRSP. These three companies are at the forefront of the genetic editing revolution. Theyre also all top-ten holdings in ARKG.

By investing in these companies, youre making concentrated bets on companies turning the entire healthcare model on its head! Youll also be investing in companies that will likely save countless lives. Its a true win-win!

Just understand that the genomics revolution will unfold over the next 20 to 30 years. So, treat these stocks like long-term speculations.

The Great Disruptors:3 Breakthrough Stocks Set to Double Your Money

Get our latest report where we reveal our three favorite stocks that will hand you 100% gains as they disrupt whole industries.Get your free copy here.

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Genomic Stocks Are in the First Inning of a Multi-Year Megatrend - ETF Trends

Antigen tests are the latest tool thats been given emergency use authorization by the Food and Drug Administration (FDA) in our fight against the new coronavirus.

The tests, which function similarly to rapid flu or strep tests, are designed to quickly detect tiny pieces of protein from the novel coronavirus that causes COVID-19. The test is done by swabbing a persons nasal cavity.

So far, only one antigen test has been permitted a rapid test kit created by the Quidel Corporation in San Diego that can show results within 15 minutes.

The FDA hopes to evaluate and authorize more antigen tests in the coming weeks.

The main advantage of these tests is their speed, according to the FDA. Being able to immediately know whether or not someones been exposed to the virus could, in theory, help reopen the economy and allow people to get back to work safely.

Antigen tests are also cheaper than other diagnostic tests available, and could easily be scaled up and distributed widely.

But there are some drawbacks to consider when administering these types of tests, health experts say.

The current diagnostic tests available are polymerase chain reaction (PCR) tests.

By swabbing a persons nasal cavity, PCR tests can detect the viruss genetic material and diagnose if a person is actively sick with COVID-19.

PCR tests are thought to be very accurate because of how sensitive they are to picking up genetic material. Theyre able to detect small amounts of genetic material, but it takes time to process and interpret the results in a lab.

Antigen tests, on the other hand, swab for antigens, or protein fragments on the surface of a virus that triggers an immune response.

This test looks for parts of the virus in tissue as a way of detecting infection, said Dr. James Zehnder, director of clinical pathology at Stanford Medicine.

Theyre lightning fast, providing results within minutes. But theres a lot of room for error.

Theyre faster but less sensitive [than PCR tests]. They miss many cases; very much limiting their value, said Dr. Sheldon Campbell, a Yale Medicine pathologist and professor of laboratory medicine at the medical school.

If a person tests positive on an antigen test, theres a high chance they do in fact have COVID-19.

That said, the FDA states that antigen tests miss a lot of active infections, and lead to a lot of false negatives. (Quidels test allegedly only catches 85 percent of positive cases.)

Its very concerning, said Campbell. They need 1,000 or more times as many virus particles to detect as the RNA tests do.

False negatives from an antigen test should be confirmed with a PCR test, the FDA advised.

Experts dont want a lot of people walking around thinking they dont have COVID-19, when in actuality they do.

Zehnder said that PCR tests remain the most sensitive and specific test to determine if someone is infected.

Antigen tests are limited, considering the whole purpose of diagnostic testing is to accurately detect cases and prevent transmission.

If your test results are crucial i.e. someone needs to know if theyre able to go to work or return to a long-term care facility its probably best to take a PCR diagnostic test.

If your results are less urgent perhaps you just want confirmation whether or not you have COVID-19 and will continue quarantining regardless then an antigen test alone may be useful, Campbell noted.

The tests arent as accurate as health experts would like them to be, but theyre another resource that can better help us manage the ongoing pandemic.

Antigen tests are the latest tool thats been given emergency use authorization by the FDA in our fight against the new coronavirus.

The tests, which function similarly to rapid flu or strep tests, are designed to rapidly detect tiny pieces of protein from the virus by swabbing a persons nasal cavity.

Though they provide rapid results and are cheap to produce, the tests are known to produce many false negatives and the results often need to be validated via a polymerase chain reaction test, or PCR test.

Read more from the original source:
What Tests for COVID-19 Antibodies Can and Can't Tell Us About the Disease - Healthline

Company on track to begin enrollment and dosing of STK-001 in Part A of Phase 1/2a Monarch clinical trial in children and adolescents with Dravet syndrome in 2H 2020

Research activities ongoing to identify an additional preclinical candidate derived from the companys TANGO technology platform for the treatment of an additional genetic disease in 2H 2020

As of March 31, 2020, company has $211.5 million in cash, cash equivalents and restricted cash, anticipated to fund operations into 2023

BEDFORD, Mass.--(BUSINESS WIRE)-- Stoke Therapeutics, Inc. (Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today reported financial results for the first quarter of 2020 and provided business updates.

I am incredibly gratified by the focus and determination of our employees during these challenging times. Thanks to their unwavering commitment to patients, we are continuing to make progress with STK-001 and are on track to enroll and dose the first children and adolescents with Dravet syndrome in the Phase 1/2a Monarch study later this year, said Edward M. Kaye, M.D., Chief Executive Officer of Stoke Therapeutics. Our understanding of the potential for our TANGO technology in additional genetic diseases has continued to advance and we are generating data that we believe will support the nomination of a second preclinical candidate in the second half of 2020.

First Quarter 2020 Business Highlights and Recent Developments

Upcoming Anticipated Milestones

First Quarter and Year-to-Date Results

About STK-001

STK-001 is an investigational new medicine for the treatment of Dravet syndrome. Stoke believes that STK-001, a proprietary antisense oligonucleotide (ASO), has the potential to be the first disease-modifying therapy to address the genetic cause of Dravet syndrome. STK-001 is designed to upregulate NaV1.1 protein expression by leveraging the non-mutant (wild-type) copy of the SCN1A gene to restore physiological NaV1.1 levels, thereby reducing both occurrence of seizures and significant non-seizure comorbidities. Stoke has generated preclinical data demonstrating proof-of-mechanism and proof-of-concept for STK-001. STK-001 has been granted orphan drug designation by the FDA as a potential new treatment for Dravet syndrome.

About Phase 1/2a Clinical Study (Monarch)

The Monarch study is a Phase 1/2a open-label study of children and adolescents ages 2 to 18 who have an established diagnosis of Dravet syndrome and have evidence of a pathogenic genetic mutation in the SCN1A gene. The primary objectives for the study will be to assess the safety and tolerability of STK-001, as well as to characterize human pharmacokinetics. A secondary objective will be to assess the efficacy as an adjunctive antiepileptic treatment with respect to the percentage change from baseline in convulsive seizure frequency over a 12-week treatment period. Stoke also intends to measure non-seizure aspects of the disease, such as quality of life as secondary endpoints. Stoke plans to enroll approximately 40 patients at 20 sites in the United States. Enrollment and dosing are expected to begin in the second half of 2020.

About Dravet Syndrome

Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures, beginning within the first year of life. Dravet syndrome is difficult to treat and has a poor long-term prognosis. Complications of the disease often contribute to a poor quality of life for patients and their caregivers. The effects of the disease go beyond seizures and often include severe intellectual disabilities, severe developmental disabilities, motor impairment, speech impairment, autism, behavioral difficulties and sleep abnormalities. Compared with the general epilepsy population, people living with Dravet syndrome have a higher risk of sudden unexpected death in epilepsy, or SUDEP. Dravet syndrome affects approximately 35,000 people in the United States, Canada, Japan, Germany, France and the United Kingdom, and it is not concentrated in a particular geographic area or ethnic group.

About Stoke Therapeutics

Stoke Therapeutics (Nasdaq: STOK) is a biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. Stoke aims to develop the first precision medicine platform to target the underlying cause of a broad spectrum of genetic diseases in which the patient has one healthy copy of a gene and one mutated copy that fails to produce a protein essential to health. These diseases, in which loss of approximately 50% of normal protein expression causes disease, are called autosomal dominant haploinsufficiencies. Stoke is headquartered in Bedford, Massachusetts with offices in Cambridge, Massachusetts. For more information, visit https://www.stoketherapeutics.com/ or follow the company on Twitter at @StokeTx.

Cautionary Note Regarding Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to: our first quarter results; the direct and indirect impact of COVID-19 on our business, financial condition and operations, including on our, expenses, supply chain, strategic partners, research and development costs, clinical trials and employees; our expectation about timing and execution of anticipated milestones, including enrollment in Part A of our Phase 1/2a Monarch clinical trial in Dravet syndrome, and our ability to use study data to advance the development of STK-001; the ability of STK-001 to treat the underlying causes of Dravet syndrome; and the ability of TANGO to design medicines to increase protein production. These forward-looking statements may be accompanied by such words as aim, anticipate, believe, could, estimate, expect, forecast, goal, intend, may, might, plan, potential, possible, will, would, and other words and terms of similar meaning. These forward-looking statements involve risks and uncertainties, as well as assumptions, which, if they do not fully materialize or prove incorrect, could cause our results to differ materially from those expressed or implied by such forward-looking statements. These statements involve risks and uncertainties that could cause actual results to differ materially from those reflected in such statements, including: our ability to develop, obtain regulatory approval for and commercialize STK-001 and future product candidates; the timing and results of preclinical studies and clinical trials; the risk that positive results in a clinical trial may not be replicated in subsequent trials or success in early stage clinical trials may not be predictive of results in later stage clinical trials; risks associated with clinical trials, including our ability to adequately manage clinical activities, unexpected concerns that may arise from additional data or analysis obtained during clinical trials, regulatory authorities may require additional information or further studies, or may fail to approve or may delay approval of our drug candidates; the occurrence of adverse safety events; failure to protect and enforce our intellectual property, and other proprietary rights; failure to successfully execute or realize the anticipated benefits of our strategic and growth initiatives; risks relating to technology failures or breaches; our dependence on collaborators and other third parties for the development, regulatory approval, and commercialization of products and other aspects of our business, which are outside of our full control; risks associated with current and potential delays, work stoppages, or supply chain disruptions caused by the coronavirus pandemic; risks associated with current and potential future healthcare reforms; risks relating to attracting and retaining key personnel; failure to comply with legal and regulatory requirements; risks relating to access to capital and credit markets; environmental risks; risks relating to the use of social media for our business; and the other risks and uncertainties that are described in the Risk Factors section of our most recent annual or quarterly report and in other reports we have filed with the U.S. Securities and Exchange Commission. These statements are based on our current beliefs and expectations and speak only as of the date of this press release. We do not undertake any obligation to publicly update any forward-looking statements.

Financial Tables Follow

Stoke Therapeutics, Inc.Condensed consolidated balance sheets(in thousands, except share and per share amounts)(unaudited)

March 31,

December 31,

2020

2019

Assets

Current assets:

Cash and cash equivalents

$

211,288

$

222,471

Prepaid expenses and other current assets

4,342

3,281

Interest receivable

144

281

Total current assets

$

215,774

$

226,033

Restricted cash

205

205

Operating lease right-of-use assets

1,900

Property and equipment, net

2,962

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Stoke Therapeutics Reports First Quarter Financial Results and Provides Business Updates - BioSpace

SEATTLE, May 15, 2020 (GLOBE NEWSWIRE) -- SEngine Precision Medicine, a precision oncology company revolutionizing cancer diagnostics and therapies by pre-testing drugs on patient-derivedtumor-based organoids, today announced that data from a retrospective study summarizing the predictive value of the PARIS Test for cholangiocarcinoma will be presented virtually as a poster session (abstract number 8026) at the 2020 AACR Virtual Meeting Session II, to be held June 22-24, 2020.

The PARIS Test is CLIA certified to provide an actionable report to oncologists as a tool for therapeutic decisions, ranking sensitivity to targeted, endocrine and chemotherapy agents. The AACR poster presentation summarizes the strong correlation between genomics,retrospective treatment outcomes and PARIS Test drug sensitivity results based on a retrospective analysis of 17 cholangiocarcinoma patients.

This study shows the feasibility of functional testing of organoids derived from cholangiocarcinoma patients tissue in a CLIA-certified diagnostic test. These results correlate well with genomically predicted drug sensitivities for all patients, as well as showed additional drug sensitivities beyond those predicted by genomics offering patients additional potential treatment options. For patients whose cancer progressed on previous treatments (n=3), 100% retrospective concordance was shown between organoid drug resistance and prior treatment outcomes. Each patient represents a mosaic of drug sensitivities, reflecting unique combinations of genetic and epigenetic alterations, and the PARIS Test can identify the best personalized drug for them.

Details related to the poster presentation are as follows:Title:Organoid based functional test to predict personalized treatment in cholangiocarcinomaLead Author:Astrid Margossian, MD, PhDSenior Author: Carla Grandori, MD, PhDAbstract Number: 8026Poster Session: Translational Research with Targeted Therapies

About PARIS TestThe PARIS Test is based on the capability to propagate patient-specific cancer tissue as organoids ex vivo and is applicable to all solid tumors including colon, breast, lung, ovarian and pancreatic cancer. Organoids are cancer-derived cells grown in 3D outside the body, which maintain the functionality of the original tumor as well as its genomic characteristics. For cancers with no clear standard-of-care treatments, such as cholangiocarcinoma, personalized patient-derived tumor organoid testing lets treating physicians match the right drug to the right patient by providing organoid drug response data on candidate therapies.

About SEngine Precision Medicine SEngine Precision Medicine Inc. is a precision oncology company revolutionizing cancer diagnostics and therapies by pre-testing drugs on patient-derived organoids grown ex-vivo utilizing patient specific tumor cells.As a spin-out from the world-renowned Fred Hutchinson Cancer Research Center, SEngine is leveraging over two decades of R&D in diagnostics and drug discovery. The Company is commercializing the PARIS Test, a next generation diagnostic test that predicts drug responses integrating knowledge of cancer genomics with organoids, robotics, and AI-driven computational tools. SEngines CLIA certified PARIS Test generates predictive drug sensitivity reports for patients with solid tumors. SEngine is also pursuing drug discovery via strategic collaborations with biopharmaceutical / pharma companies leveraging its precision oncology platform.

Discover more at SengineMedicine.com and follow the latest news from SEngine on Twitter at @SEngineMedicine and on LinkedIn.

Contact:Stephanie Carringtonstephanie.carrington@westwicke.com646-277-1282

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SEngine Precision Medicine to Present Data Related to the Predictive Value of PARIS Test, an Organoid-based Drug Response Assay, for...

Viruses may seem like cunning villains, purposefully mutating to increasingly deadlier forms to outwit their human hosts. In reality, a lot of what happens with a virus is completely random. This randomness can make figuring out where a virus came from, how it spreads and what makes it tick especially tricky. For SARS-CoV-2, the new virus that causes COVID-19, scientists are looking to its genome for answers to some of these questions.

Researchers were recently able to determine that New York City may have been the original epicenter of the U.S. epidemic and that those initial cases were likely imported from Europe. They can tell this by looking at the genome and its sequence and seeing how they are similar or different, explains Adam Lauring, M.D., Ph.D., associate professor of microbiology and immunology and infectious disease.

Armed with virus samples taken from people with COVID-19, virologists and epidemiologists create what is known as a phylogenetic tree. This viral family tree lines up the genetic codes from each sample of virus to see whos related to whom.

Based on the genetic sequences and time of collection, you can start to paint a picture of how the virus moves through a population. The earliest [virus samples] in New York were more similar to the ones from people in Europe who were infected. You start with the dates, then look at the sequences and figure thats the most likely scenario, says Lauring. Its not foolproof, though. Theres always uncertainty.

A real world example of this uncertainty came to light with a study posted online in April, which described the deaths of two people from COVID-19 in Santa Clara, California weeks earlier than the virus was thought to be in California. What this tells us is that theres definitely missing data, says Lauring. This begs the question, he says, of where did those cases came from and how long the virus was spreading before the outbreak was recognized.

SEE ALSO: Seeking Medical Care During COVID-19

Researchers are also looking at the SARS-CoV-2 genome for clues about its true origin: the animal that infected the first person. So far, bats appear to be the most likely suspect. Looking at the phylogenetic tree, we see that a bat coronavirus is the closest relative to SARS-CoV-2, sharing around 96% of their genomes, says Lauring. But that too, is not the full story. Another animal, a small, scaly-skinned mammal called a pangolin, has been implicated as well.

The spike protein in SARS-CoV-2, the main protein on the surface that binds to the cells receptor and how the virus gets into the cell, is similar to a pangolin coronavirus spike protein, says Lauring. Its almost like, when you tell a person he has his fathers nose. That feature is similar, but across features the father and child may not look very similar. Coronaviruses, like a lot of other viruses, swap genes around.

These swaps are examples of mutations, which are common in RNA viruses like SARS-CoV-2. Laurings lab focuses on mutations in influenza, the RNA virus behind the infamous 1918 Spanish flu pandemic. Understanding how influenza mutates is critical for making decisions about the annual influenza vaccine. RNA viruses mutate relatively quickly because they lack a proofreading mechanism to look for and repair errors during replication.

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However, SARS-CoV-2 and its coronavirus cousins are unique among RNA viruses, because they have a proofreading enzyme. The coronavirus genomes are three times longer than youd expect them to be, and the presence of the proofreading enzyme explains that nicely, says Katherine Spindler, Ph.D., professor in the department of microbiology and immunology. Spindler is a host for the podcast This Week in Virology, which examines the latest science around SARS-CoV-2 and other viruses.

With this enzyme, the virus can make a few more errors and not have it be lethal for the virus. As a result, SARS-CoV-2 mutates more slowly than other RNA viruses. Spindler notes that only about 20 mutations have been retained in the genome so far since the beginning of 2020, despite the billions of times the virus has replicated.

SEE ALSO: Keeping Our Patients Safe During COVID-19

Even with its relatively slow mutation rate, mutations present in each persons SARS-CoV-2 genome allows researchers to do genetic tracing in real time, says Lauring. His lab hopes to study the virus genome more closely to look at how the virus is transmitted in healthcare settings and communities.

He stresses that just because a virus mutates doesnt mean the mutations are making it stronger, more likely to be transmitted, or that it will be tougher to develop a vaccine. My hunch is evolution wont be the biggest challenge in developing a vaccine. There are viruses that evolve relatively quickly for which we do have vaccines, for example polio, measles, mumps, Ebola, hepatitis A, notes Lauring.

Spindler adds that the fact that were seeing a variety of COVID-19 symptoms doesnt mean there are different mutant strains. Every new symptom that comes along, from COVID toes and skin rashes to blood clots, are likely just additional manifestations of the virus as it infects so many different people, she says. Figuring out the mysteries of SARS-CoV-2 will take years of experimental work, she says.

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What the SARS-CoV-2 Genome Reveals - Michigan Medicine

Nafeez Ahmed explores the troubling implications and assumptions of the Governments AI-driven gene programme.

In Part 1 of this investigation, I looked at how the convergence of an AI Superstate and corporate interests with health data lies at the heart of a new frontier for profit and surveillance. But the Governments response during the COVID-19 pandemic has revealed something even more profoundly disturbing: a fascination with genomics which moves from a merely descriptive tool to something so prescriptive it verges on eugenics.

The NHSX app is simply one project with a questionable design which appears to result from the Governments much wider project to remake the NHS.

At the core of the new NHSX AI drive is the goal of predictive, preventive, personalised and participatory medicine, according to an NHSX document published in October 2019. Pivotal to this AI-driven transformation is genetics:

Key to unlocking the benefits of precision medicine with AI is the use of genomic data generated by genome sequencing. Machine learning is already being used to automate genome quality control. AI has improved the ability to process genomes rapidly and to high standards and can also now help improve genome interpretation.

The NHS Genomic Medicine Service is starting with a focus on cancer, rare and inherited diseases,but its broader goal is far more comprehensive. Initially, the hope is that genomics will expand to cover other areas, such as pharmacogenomics, which looks at how an individuals genes influence a particular biological process that mediates the effects of a medicine, according to The Pharmaceutical Journal.

But the end-goal is to convert the NHS into a health service oriented fundamentally around the role of genetics in disease. The aspiration is that from 2020, and by 2025, genomic medicine will be an embedded part of routine care to enable better prediction and prevention of disease and fewer adverse drug reactions. The GMS aims to complete five million genomic analyses and five million early disease cohorts over the next five years.

By 2025, genomic technologies will be embedded through multiple clinical pathways and included as a fundamental part of clinical training. As a result, it is hoped that there will be a new taxonomy of medicine based on the underlying drivers of disease.

But, this entire premise is deeply questionable. There is little evidence that the underlying drivers of disease are primarily genetic.

Last December, a study in the journal PLOS One found that genetics usually explains no more than 5-10% of the risk for several common diseases. The study examined data from nearly 600 earlier studies identifying associations between common variations in the DNA sequence and more than 200 medical conditions. But its conclusion was stark: more than 95% of diseases or disease risks including Alzheimers, autism, asthma, juvenile diabetes, psoriasis, and so on could not be predicted accurately from the DNA sequence. A separate meta-analysis of two decades of DNA science corroborated this finding.

The implication is startling: that the entire premise for the billions of pounds this Government is investing in building a new privatised NHS infrastructure for AI-driven genomic medicine is scientifically unfounded.

The obsession with genetics can be traced directly back to the Prime Ministers chief advisor, Dominic Cummings.

Cummings set out his vision for the NHS in a February 2019 blog, which although previously reported on has not been fully appreciated for its astonishingly direct implications. While focusing on disease risk, the blog flagged-up Cummings hopes that a new NHS genomics prediction programme would ultimately allow the UK to, not just prevent diseases, but to do so before birth in effect a nod toward the selective breeding techniques at the core of eugenics.

They are using the COVID-19 crisis to erect a corporate superstate powered by mass surveillance and AI. Their grim ambition is to reach into the very DNA of every British citizen.

His vision for what a genomics-focused NHS would look like bears startling resemblance to the core ideas of eugenics the discredited pseudoscience aiming to improve the genetic quality of a human population by selecting for superior groups and excluding those with inferior genes. Its worst manifestations were exemplified by the Nazis.

In the blog, Cummings wrote:

Britain could contribute huge value to the world by leveraging existing assets, including scientific talent and how the NHS is structured, to push the frontiers of a rapidly evolving scientific field genomic prediction. He called for free universal SNP [single-nucleotide polymorphis] genetic sequencing as part of a shift to genuinely preventive medicine, to be rolled-out across the UK. This approach holds the promise of revolutionising healthcare in ways that give Britain some natural advantages over Europe and America.

Later in the post, Cummings allowed himself to speak more directly to what natural advantages could actually entail. He claimed that a combination of AI-driven machine learning with very large genetic sampling could enable the precise prediction of complex traits such as general intelligence and most diseases.

The two scientists Cummings cited as the primary sources for his vision were educational psychologist Robert Plomin and physicist Steven Hsu.

Plomin, described by Cummings as the worlds leading expert on the subject, is a renowned scientist. But he also has a history of association with the eugenics movement, according to Dr David King, founder of Human Genetics Alert and previously a molecular biologist. (Sir David King, the former chief scientific adviser to the UK Government, has also criticised the genome sequencing goldrush).*

When The Bell Curve a book advocating the genetic inferiority of African Americans was published, Plomin was a key signatory to a statement defending the science behind the book, explained Dr David King in a paper for the non-profit watchdog Human Genetics Alert. The statement carefully avoided explicitly endorsing The Bell Curves racist conclusions (aptly summarised by Francis Wheen as black people are more stupid than white people: always have been, always will be. This is why they have less economic and social success), while failing to repudiate them. Plomins fellow co-signatories included several self-proclaimed scientific racists, Philippe Rushton and Richard Lynn. Plomin has also published papers with the American Eugenics Society and spoken at several meetings of the British Eugenics Society (the latter rebranded itself as the Galton Institute in 1989) both of which advocated racial science.

In December 2013, Plomin was called as an expert witness to the House of Commons Education Select Committee, where he called for the Government to focus on the heritability of educational attainment. Twenty-five minutes into the session, Dominic Raab who as Foreign Secretary and First Secretary has stood in for Boris Johnson during his period of absence due to COVID-19 prompted Plomin to focus more specifically on explaining his views about genetics, intelligence and socio-economic status.

Just two months before Plomins parliamentary testimony, a 237-page dossier by Cummings then a top advisor to Education Secretary Michael Gove was leaked to the press. The paper claimed that genetics plays a bigger role in a childs IQ than teaching and called for giving specialist education as per Eton to the top 2% in IQ. Pete Shanks of the Centre for Genetics and Society described Cummings policy proposal as a blatantly eugenic association of genes with intelligence, intelligence with worth, and worth with the right to rule.

The Cummings dossier which cites Plomin extensively further reveals that, according to Cummings, he had invited Plomin into the DfE [Department for Education] to explain the science of IQ and genetics to officials and ministers.

The Education Select Committees report shows that, at the time of Plomins testimony, the Government was resistant to these views. But, the position appears to have changed since then, with figures such as Cummings, Raab and Gove now at the seat of power under Prime Minister Boris Johnson.

Plomin would go on to work with Steven Hsu, who was involved in a major Chinese genome sequencing project based on thousands of samples from very high-IQ people around the world. The goal was to identify genes that can predict intelligence. Hsu went on to launch his own company, Genomic Prediction. In slide presentations about his work from 2012, Hsu approvingly quoted British eugenicist Ronald Fisher, closing his slides with the following quotation: but such a race will inevitably arise in whatever country first sees the inheritance of mental characters elucidated. Hsus slides, wrote David King, include plans for a eugenic breeding scheme using embryo selection to improve the overall IQ of the population.

Yet, on his blog, Cummings confirmed that Hsu has recently attended a conference in the UK where he presented some of these ideas to UK policy-makers. Among the ideas Hsu presented to Cummings colleagues in Government was that the UK could become the world leader in genomic research by combining population-level genotyping with NHS health records. Hsu further claimed that risk prediction for common diseases was already available to guide early interventions that save lives and money.

Hopefully the NHS and Department for Health will play the Gretzky game, take expert advice from the likes of Plomin and Hsu and take this opportunity to make the UK a world leader in one of the most important frontiers in science, enthused Cummings.

Plomins claim that intelligence is determined primarily by genes contradicts a vast body of scientific literature, and is largely overblown. One of the latest studies debunking Cummings hopes was led by the University of Bristol and published in March. Based on a sample size of 3,500 children, the study found that polygenic scores (which combine information from all genetic material across the entire genome) have limited use for accurately predicting individual educational performance or for personalised education.

The study did not dismiss a role for genes outright, noting genetic scores modestly predictededucational achievement. The problem was that these predictions were less accurate than using standard information known to predicteducational outcomes, such as achievement at younger ages, parents educational attainment or family socio-economic position.

Last November, Hsus Genomic Prediction began touting new report cards to its customers. The cards displayed alleged results of genetic tests containing warnings that embryos might have low intelligence, grow up to be short, or have other conditions such as diabetes. But, according to the MIT Technology Review, the company has struggled both to validate its predictions and to interest fertility centres in them. In the month prior to Hsus grand announcement, the first major study to test the empirical viability of screening embryos, led by statistical geneticist Shai Carmi of the Hebrew University of Jerusalem, concluded that the technology is not plausible.

The lack of scientific substantiation has not stopped Cummings from suggesting a more interventionist vision for the NHS, which could be accused of paving the way for a new form of eugenics. In his February 2019 blog, he wrote: We can imagine everybody in the UK being given valuable information about their health for free,truly preventive medicinewhere we target resources at those most at risk, and early (evenin utero) identification of risks. This passage appears to nod to the core eugenics notion of selective breeding using embryo selection. Cummings even went further to endorse the goal of editing genes to fix problems.

In a further telling but slightly more well-known passage, Cummings characterised the genomics programme as a precursor to more realistic views about IQ and social mobility: It ought to go without saying that turning this idea into a political/government success requires focus on A) the NHS, health, science, NOT getting sidetracked into B) arguments about things like IQ and social mobility. Over time, the educated classes will continue to be dragged to more realistic views on (B) but this will be a complex process entangled with many hysterical episodes. (A) requires ruthless focus.

This passage affirms that Cummings approach is deliberately deceptive. The focus on health and the NHS is revealed as a cover for a longer-term vision to usher in more realistic views about things like IQ and social mobility. The passage also lifts the rock on Cummings weakest point that he fears that public attention on these more realistic views could sidetrack the broader strategy before it reaches fruition.

In the words of Dr David King, Cummings deference to Hsu, who openly advocated eugenics breeding programmes, suggests that the Prime Ministers chief advisor clearly favours this strategy for Britain; of course, this is precisely what all the European countries were trying to achieve in the heyday of eugenics to overcome their imperialist competitors by improving the national stock.

This, it seems, is the essence of Cummings ambition to use the NHS genomics prediction programme as a mechanism to provide Britain natural advantages over Europe and America.

And in this context, it is impossible to ignore the implications of Cummings appointment of Andrew Sabisky to a senior role advising Boris Johnson. When Johnsons spokespeople were asked repeatedly whether the Prime Minister would condemn Sabiskys sympathies for racist eugenics, he repeatedly refused. Sabisky later stepped away from the role.

The COVID-19 pandemic has now provided the Government with the opportunity to double down on its goals of extending genome sequencing across the UK population.

While genomic sequencing of the Coronavirus is undoubtedly an important scientific task to map and understand it, the crisis fits neatly into Cummings call for a ruthless focus on the NHS as a vehicle for Britains genetic enhancement.

On 23 March, when the UK finally instituted a lockdown at least three weeks after being informed that hundreds of thousands of people (and potentially up to a million) people were at risk of death from its previous policy of herd immunity, the Government launched a new scientific research consortium coordinated by Cambridge University along with the Wellcome Sanger Institute, the NHS and Public Health England.

The consortium would gather samples from patients confirmed with COVID-19 and send them to genetic sequencing centres across the country to analyse the whole genetic code of the samples. The project was billed breathlessly as an essential step in being able to control the pandemic and prevent further spread.

Unsurprisingly, it has done no such thing. Instead, six weeks later, the UK has ended up with the highest COVID-19 fatality rate in Europe.

As the death toll approaches the same level of British civilian casualties during the Second World War, the Governments strategy has privileged ambiguous, extortionate high technology solutions, pouring hundreds of millions of pounds into powerful private sector players with no transparency or due process. Meanwhile, traditional, proven, public health strategies such as better border controls, or extensive contact tracing and testing by scaling up local capacity, were inexplicably delayed for months.

On 13 March, the Government launched a new partnership between the NHS, Genomics England, the GenOMICC consortium, and US biotech giant Illumina, to conduct a nationwide human whole genome sequencing study targeting COVID-19 patients in 170 intensive care units.

The Governments new genome sequencing partner, Illumina, has previously produced genetic sequencing systems marketed to police agencies in China to facilitate its genetic profiling of the minority Uyghur population in Xinjang the largest system of discriminatory, ethnically-targeted biometric surveillance using DNA ever created.

It is difficult to avoid the conclusion that Dominic Cummings and his fellow ideologues in Government are hell-bent on pursuing a pseudo-scientific vision that has been years in the making.They are using the COVID-19 crisis to erect a corporate superstate powered by mass surveillance and AI. Their grim ambition is to reach into the very DNA of every British citizen.

Dominic Cummings was contacted for this article, but is yet to reply.

*This article was corrected to remove a confusion between Sir David King, the former government chief scientific adviser, and Dr David King, the molecular biologist who isthefounder and Director of Human Genetics Alert.

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WHITEHALL ANALYTICA THE AI SUPERSTATE: Part 2 Is COVID-19 Fast-Tracking a Eugenics-Inspired Genomics Programme in the NHS? - Byline Times

The key to understanding and fighting the mysterious COVID-19-related inflammatory illness that is targeting children across the state could be in their genes.

The New York Genome Center is analyzingblood samples from the young patients with the hopes of finding genetic markers specific to the disease known as "pediatric multi-system inflammatory syndrome associated with COVID-19."

The state is investigating 102 cases of children who have the illness, which shows symptoms similar to Kawasaki disease or toxic shock syndrome. Three people, including an 18-year-old girl from Suffolk County, have died from the syndrome.

"This approach is widely used to study the genetic basis of all diseases, said Tom Maniatis, Evnin Family scientific director and chief executive officer of the New York Genome Center. We are trying to see if there are anygenetic clues to what might be causing this syndromein children.

If we can detect and understand thegenetic basis for predisposition, and how the immune system is affected in the disease, it might be possible to develop strategies for the clinical care of these children, he added.

Gov.Andrew M. Cuomo announced last week the state Department of Health was partnering with the Genome Center and The Rockefeller University to conduct a genome and RNA sequencing study of the illness, which hasbeen identified in 14 other states, including neighboring New Jersey and Connecticut, as well as five European countries.

Cuomo said Wednesday that60% of children with the illness have tested positive for COVID-19 and 40% had the antibody, meaning they may have been exposed to the coronavirus weeks before. Of those affected, 71% became seriously ill and were placed in intensive care units. He said 43% of those minors remain hospitalized and 19% had to be intubated.

According to a racial and ethnic breakdown of cases on thestate health department's website, 25% were white, 23% black, 20% other, 3% Asian and 31% unknown. In addition, 35% were Hispanic/Latino, 40% non Hispanic and 25% unknown.

Officials at Cohen Childrens Medical Center in New Hyde Park said they are seeing as many as two or three children a day with symptoms of the syndrome: fever and severe abdominal pain, rashes and red lips, eyes and tongue.

Experts believethe patients bodies might be having an extreme reaction to COVID-19, the disease caused by the novel coronavirus.

Whats so striking about this phenomena is that we all thought that most children were relatively safe, considering that they have the lowest mortality rate of any of the categories of COVID patients, Maniatis said.

A genome is an organisms complete set of DNA, including its genes, with all of the information needed to build and maintain that organism, according to the Bethesda, Maryland-based National Institutes of Health.

Researchers will look through the genome of patients in an effort to find DNA sequences that vary from the standard.

By comparing the childrens DNA sequence to the standard, we might be able to identify a variant that is not seen normally in most individuals, Maniatis said. And if you can show that it happens enough, you can begin to conclude that statistically its likely the DNA sequence change is associated with the disease."

The next step is RNA sequencing, which could provide insights into identification of altered immune pathways that are known to operate during virus infections.

Similar sequencing research conducted in the past led scientists to discover a gene mutation in people with blood cancer that impacted their immune system. A drug calledGleevec was developed to correct that mutation.

The Feinstein Institutes for Medical Research in Manhasset plans to participate in the study, said Dr. Peter Gregersen, professor of molecular medicine at Feinstein, the research arm of Northwell Health.

He said understanding the genetic variations of COVID-19 and the related illness thats attacking children is key to finding effective treatment.

We know age, sex and certain underlying conditions play a role, but genetic variations have something to do with this as well, Gregersen said. A lot of variations are unexplained. We know there is a huge variation, and some people dont get sick at all, while others have a devastating illness.

Maniatis said a vital part of the investigation is the collaboration with Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University.

He is one of the worlds experts in this field, and he established an international consortium directed toward understanding exceptional cases of clinical manifestations, Maniatis said. With Jean-Laurents participation, the search would extend from our efforts in New York and New Jersey to include researchers around the world and that will increase the statistical significance of any finding.

Lisa joined Newsday as a staff writer in 2019. She previously worked at amNewYork, the New York Daily News and the Asbury Park Press covering politics, government and general assignment.

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Researchers: Disease affecting kids could be in the genes - Newsday