Archive for the ‘Genetic Testing’ Category

There may be more value gleaned from the use of broad-panel next-generation sequencing (NGS) than from the use of a single-gene testing (SGT) approach in patients with nonsquamous non-small cell lung cancer (nsNSCLC), researchers argued in a presentation during the ASCO20 Virtual Scientific Program.1

Even though EGFR and ALK-based testing is widely used in NSCLC with a combined SGT rate for these mutations approaching 80% in patients with nonsquamous histology across community oncology practices in New Jersey and Maryland, according to a retrospective analysis of the COTA database2 larger screening panels interrogating for other actionable driver oncogenes (ADOs) may actually be more cost-effective in the long run.

The goal of the simulation, led by Nathan A. Pennell, MD, PhD, of the Cleveland Clinics Taussig Cancer Center in Ohio, was to measure the cost and/or value differences between choosing to run a narrow genomics panel or broader NGS. They measured the potential value of each testing approach on the basis of life years gained (LYG) and the cost per LYG.

They considered the rates of reimbursement by the Centers for Medicare & Medicaid Services (CMS) for both a broad NGS test ($627.50) and 2 single gene tests (1 test for ALK and 1 test for EGFR; $732.30), and the cost of treatment for 2 years afterward (which they estimated would be approximately $20,000).

The researchers estimated the prevalence of ADOs across nsNSCLC (89,000 nsNSCLC patients who would be eligible for testing annually) and then predicted survival outcomes in both the presence and absence of an ADO-based prescribing approach using the rates found in the existing literature. These survival estimates for each group were based on Weibull distributions fit to statistical estimates of both median and 5-year survival.

The model was based on the assumption that if there were an appropriate match for ADO and the patient subsequently received a targeted therapy as a result of the testing, the patient would gain a median additional 2 years of life.

ADOs of interest that were a part of the broader panel included EGFR, ALK, ROS1, BRAF, RET, MET, and NTRK, whereas SGT could only include interrogate for either ALK or EGFR.

Compared with the use of SGT, a more blanketed NGS approach to testing for genetic aberrations was determined to produce large gains in life years at reduced cost per LYG, the authors wrote.

Assuming the genetic testing rate in this patient population remains at 80%, a switch from SGT to a wider adoption of NGS would result in an additional 21,019 LYG with reduced cost per LYG of $599. And if NGS were universally performed for nsNSCLC, the value would rise even higher.

In addition, not running these multigene tests in a routine manner, the reseearchers argued, could be a missed opportunity it could mean that actionable mutations would be missed by only using SGT, and patients may not get the best therapy for their disease as a result.

Thus, the investigators concluded, the estimated median survival and 5-year survival for a patient who received NGS followed by a highly effective therapy selected on the basis of that alteration was 39 months and 25%, respectively. The survival estimates would be 14 months and 25%, respectively, for a patient who had an ADO that was not identified by SGT.

Read more of Cancer Therapy Advisors coverage of the ASCO 2020 meeting by visiting the conference page.

Reference

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Researchers Present Evidence in Support of Broad Next Generation Sequencing in Advanced Nonsquamous NSCLC - Cancer Therapy Advisor

Global Direct-To-Consumer (DTC) Genetic Testing Industry Competitive Analysis -Forecast and Historical Market Analysis by Key Market Segments

The globalDirect-To-Consumer (DTC) Genetic Testing marketreport is updated and is published by theMarket Research Store. Detailed information about the Direct-To-Consumer (DTC) Genetic Testing market is included which is updated according to the recent outbreak of COVID-19. The data that is provided in the report study consists of historical data from 2016 to 2019 and also forecasts the further market conditions from 2020 to 2026. The Direct-To-Consumer (DTC) Genetic Testing market report study consists of over 150 pages and has over 30 tables and above 20 figures.

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All the market players that are operating in the Direct-To-Consumer (DTC) Genetic Testing market is incorporated. Some of the major players that are included within the report areGeneByGene, Genetrainer, Genecodebook Oy, Myriad Genetics, MD Revolution, DNA DTC, 23andMe, Navigenics, DeCODEme. All the details about the organization are included for having clear idea about the market competitiveness.

The Direct-To-Consumer (DTC) Genetic Testing market report consists of market definition and overview. The target audience for the market is also included for better understanding the market scenario. The research analysts have conducted several primary and secondary researches in order to obtain the numerical for the Direct-To-Consumer (DTC) Genetic Testing market. The compound annual growth rate of the Direct-To-Consumer (DTC) Genetic Testing market is revised and updated in the report study. This is owing to the changed market conditions amidst COVID-19. Several research methodologies and tools were used for further validating the data that was obtained through these researches.

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The growth factors of the Direct-To-Consumer (DTC) Genetic Testing market are included along with detailed information about the market drivers. The market restraints are also included along with supporting facts. In the coming years, the Direct-To-Consumer (DTC) Genetic Testing market will have to face several challenges but there will also be opportunities for the market to grow in the coming years. All these factors are also included in the study.

The Direct-To-Consumer (DTC) Genetic Testing market segmentation includes{Genome Data Bank Material Model, Individual Health Planning Model, Comprehensive Genome Tests Model, Medical Precision Tests Model, Restricted Trait Tests Model}; {Hospital, Doctors Office, Other}. In-depth study has been conducted about each and every segment of the market. The information in the report is depicted in subjective form as well as using tables and pictorial representations. This aids for better understanding of the Direct-To-Consumer (DTC) Genetic Testing market. The regional representations are also included. Global market analysis, region-wise and country-wise market analysis is also included within the dossier.

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The key highlights of the report:

1) Market driver, barriers, opportunities, and challenges2) Industry development3) Key regulations and mandates4) Patent analysis5) Value chain analysis6) Porters five forces model7) PESTLE and SWOT analysis8) Competitive landscape9) Investment opportunity analysis10) List of distributors/traders and buyers

Note In order to provide more accurate market forecast, all our reports will be updated before delivery by considering the impact of COVID-19.(*If you have any special requirements, please let us know and we will offer you the report as you want.)

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COVID 19 Impact On Global Direct-To-Consumer (DTC) Genetic Testing Market 2020 | Analysis By Key Players | GeneByGene, Genetrainer, Genecodebook Oy,...

The global hereditary cancer testing market is US$ 3,967.74 Mn in 2018 and is predicted to grow at a CAGR of 11.1% during the forecast period 2019 2027, to reach US$ 9,840.52 Mn by 2027.

Asia Pacific is the fastest growing geographic market and is expected to be the significant revenue contributor in forecast period. The region has witnessed several technological advancements in the field of healthcare by the incorporation of advanced hereditary cancer screening for rising hereditary cancer prevalence in the region. There is a growing interest of international players in China and India, government support in countries such as China, and advancing healthcare infrastructure. Therefore, the region has huge potential for the hereditarycancer testing marketplayers to grow during the forecast period.

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Global hereditary cancer testing market, based on the diagnosis type, was segmented as, biopsy and imaging.In 2018, the imaging segment held a largest market share of the hereditary cancer testing market, by diagnosis type. This segment is also expected to dominate the market in 2027 owing to the increasing number of cancer patients. Moreover, imaging segment is expected to grow at significant rate, in the forecast period 2019 to 2027 owing to rising preference towards cost-effective, easy, and accurate method for hereditary cancer testing.

The major players operating in the hereditary cancer testing market include Hologic Inc., Koninklijke Philips N.V., Quest Diagnostics Incorporated, Myriad Genetics, Inc., Cancer Genetics Inc., Invitae Corporation, Myogenes, Strand Life Sciences Pvt. Ltd., Pathway Genomics Corporation, and CENTOGENE AG, among others.

The market has witnessed various organic as well as inorganic developments during recent years in the hereditary cancer testing market. For instance, during April 2019, Hologic, Inc., launched the Trident HD specimen radiography system. It is a next-generation solution that delivers improved image quality, better workflow, and instant sample verification during breast-conserving surgeries and stereotactic breast biopsies. The product launches enable companies to expand their corresponding product portfolios and increase the customer base worldwide.

The market for hereditary cancer testing is expected to grow, owing to factors such as increasing prevalence of hereditary cancer and growing awareness about hereditary cancer have been boosting the market over the years. In addition, growing demand for noninvasive methods of detection are likely to have a positive impact on the growth of the market in the coming years.

Although, the genetic testing of various metabolic liabilities of cancer is clinically accessible, the available data suggest that a limited population is aware about these tests. The awareness regarding hereditary cancer conditions is growing due to various efforts made by the government. In the past decade, public medical, health, and scientific communities invested in spreading awareness regarding hereditary cancer conditions, with a major focus on hereditary cancer risk, family history, and genetic testing for inherited cancer liability. Direct-to-consumer (DTC) publicity of cancer genetic testing and federal regulations of genetic information have been other factors driving cancer genetic testing awareness among people. For instance, Myriad Genetics Laboratories, Inc. (Myriad), launched various DTC campaigns in major cities in US in the past decade. Moreover, multiple companies provide genomic profiling services for health assessment, including cancer risk prediction. Thus, increasing awareness regarding genetic cancer would enhance the demand for the diagnostic tests, along with improving the quality and efficacy of hereditary cancer testing during the forecast period.

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Hereditary Cancer Testing Market New Innovative Solutions To Boost Global Growth With Top Key Players- Cancer Genetics, Myogenes, Strand Life...

According to the Graphical Research new growth forecast report titled North America Genetic Testing Market Size By Test Type, Application, Industry Analysis Report, Regional Outlook, Estimated To Exceed USD 15.0 Billion By 2026. Growing incidences of genetic disorders and cancer will serve to be a key factor for North America genetic testing market growth over the upcoming years. Moreover, technological advancement has been a boon in the industry for early detection and treatment of diseases and disorders. According to the National Institutes of Health (NIH), one in 15,000 children suffer from phenylketonuria every year. The early detection of genetic disorders is helpful and essential for further treatment and hence, the increase in genetic testing demand will upsurge the genetic testing market growth in the forecast period.

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Technological advancement such as biochip microarray and chromosomal array will augment the industry growth. The test is easily accessible and adopted by doctors and patients to avoid uncertainty of the disorders and genetic aberrations. The techniques help to detect the chromosomal defects with highlighted parts on glass slide and give proper analysis. Moreover, the information associated with the gene alterations can be indicative to lifestyle changes and early treatments thus, will spur the regional industry size.

However, the anxiety and stress associated with uncertain results may hamper the North America genetic testing industry growth in the forthcoming years.

Predictive testing segment held substantial revenue share in 2019 and is estimated to witness around 9.5% CAGR over the analysis timeframe. Predictive testing involves detection of gene mutations associated with genetic disorders after birth or later in life. Usually, this test type of testing provides insights about hereditary disorders such as cystic fibrosis, hemochromatosis, alpha- and beta-thalassemia, sickle cell anemia and others. The early detection has helped the patient to make quick decision about medical treatment. The procedure helps to reduce genetic disease risk thus will further augment the segmental growth.

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Cardiovascular diseases were valued over USD 680.0 million in 2019. The detection of cardiovascular diseases is important for a patient as it is fatal in nature. The test helps with clinical diagnosis, identifies at risk asymptomatic and pre-symptomatic patients in the family. The hereditary cardiovascular disease includes hypertrophic cardiomyopathy, dilated and glycogen storage cardiomyopathy, arrhythmogenic right ventricular dysplasia, Wolff-Parkinson-white syndrome, long QT syndrome another. The segment growth is attributed to information regarding usage and implantation of cardiac defibrillator, enzyme replacement therapy or heart transplantation if required and thereby will escalate the product demand.

Canada genetic testing market is estimated to experience around 9.0% CAGR during the forecasting years. According to the Canadian Cancer Society, around 220,400 cases of cancer are estimated in Canada in 2019. The country is working on providing reimbursement policies and spreading awareness about genetic testing. The testing would help patients for proper treatment and increasing healthcare expenditure will prove beneficial for the Canada genetic testing industry growth.

Major market players in North America genetic testing market are Acumed LLC, CONMED Corporation, DePuy Synthes, Integra LifeScience Holdings Corporation, and Stryker Corporation, among others. These market players have undertaken strategies such as product improvisations and collaborations and mergers to maintain the market competition. For instance, in March 2017, Myriad Genetics launched the Endo Predict Test in the U.S. This product has helped patients suffering from breast cancer and enhanced companys product portfolio resulting into increased customers and revenue.

North America genetic testing market research report includes in-depth coverage of the industrywith estimates & forecast in terms of revenue in USD million from 2015 to 2026, for the following segments:

North America Genetic Testing Market Share, By Test Type, 2015-2026 (USD Million)

North America Genetic Testing Market Size, By Application, 2015-2026 (USD Million)

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Excessive Growth Opportunities of 10.8% CAGR Estimated to be Experienced by North America Genetic Testing Market During 2020-2026 - 3rd Watch News

The Preimplantation Genetic Testing Market report focuses on the economic developments and business opportunities across different countries for the forecast period 2020 to 2025. Research also show which countries and regions will perform better in the coming years. The overviews, SWOT analysis and strategies of each vendor in the preimplantation genetic testing market provide understanding about the market forces and how those can be exploited to create future opportunities.

Few of the major competitors currently working in global preimplantation genetic testing market are

Thermo Fisher Scientific, Inc., Agilent Technologies, Inc., PerkinElmer, Inc., CooperSurgical, Inc., Beijing Genomics Institute (BGI), Abbott Laboratories, Natera, Inc., Genea Limited, Rubicon Genomics, Inc. and Oxford Gene Technology

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The study predicts the growth of the preimplantation genetic testing Market based on market size, market share, demand, trends and gross sales. It also focuses on the positions of large companies in relation to the competitive landscape and their individual share in the world market. The report segments the industry by product type, application and end use. It shows the latest trends and technological developments in the industry that can influence the industry. The study provides a detailed perspective on the trends observed in the market, the contributing factors, the main players, the key companies and the main areas with growth potential.

The report covers the competitive landscape of the global preimplantation genetic testing market. It states the market state of all the prominent vendors in the market. It is very important for the vendors to provide customers with new and improved product/ services in order to gain their loyalty. The up-to-date, complete product knowledge, end users, industry growth will drive the profitability and revenue. preimplantation genetic testing market report studies the current state of the market to analyze the future opportunities and risks. preimplantation genetic testing market report provides a 360-degree global market state. Potential consumers, market values, and the future scope for the preimplantation genetic testing market are explained thoroughly to the users in this report. The key players of preimplantation genetic testing industry, their product portfolio, market share, industry profiles is studied in this report.

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Global Preimplantation Genetic Testing Market is segmented based by type, application and region.

Based on Type, the market has been segmented into:

by Test Type (Aneuploidy, Structural Chromosomal Abnormalities, Single Gene Disorders, X-linked Disorders, HLA Typing, Gender Identification) and Technology (Next Generation Sequencing, Polymerase Chain Reaction, Fluorescent In-Situ Hybridization, Comparative Genomic Hybridization, Single Nucleotide Polymorphism)

This has brought along several changes in market conditions. The rapidly changing market scenario and initial and future assessment of the impact is covered in the report. preimplantation genetic testing market Report offers critical information pertaining to the current and future growth of the market. It focuses on technologies, volume, and materials in, and in-depth analysis of the market. The study has a section dedicated for profiling key companies in the market along with the market shares they hold.

The report clarifies the following uncertainties related to the preimplantation genetic testing Market:1. What are the various factors that are likely to impact the growth of the preimplantation genetic testing Market?2. How are market players expanding their footprint in the preimplantation genetic testing Market?3. What is the most notable trend that is currently influencing the dynamics of the preimplantation genetic testing Market?4. Who are the leading players operating in the preimplantation genetic testing Market?5. Which regional market is likely to present a plethora of opportunities for market players in the preimplantation genetic testing Market?

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Preimplantation Genetic Testing Market Size, Share, Tools-Applications, Emerging-Trends, 2019 Growth-Projections, Overview, Business-Opportunities,...

Throughout the past decade, consumer biology tests have been all the rage. Companies such as 23andMe and Ancestry DNA have made their test kits accessible to every day Americans. One can screen for anomalies in their genetic code or identify their lineage. With recent advances in stem cell research, a new opportunity within the consumer biology market has appeared. Nabeel Quryshi, Michael Chen and Zeel Patel are three Harvard undergraduates who observed the unmet, rising demand of control over ones stem cells. They worked together to create Evera, the first at-home stem cell banking company. The three Harvard students are joined by the schools world-renowned biology professor, Dr. George Church. The Cambridge, Massachusetts-based company was incubated at the Harvard Innovation Lab, and has former NASA astronaut Scott Kelly as a investor.

Evera cofounders from left to right: Nabeel Quryshi, Michael Chen and Zeel Patel.

Kelly says, "I did a lot of my independent research, consulted with NASA physicians and scientists, and experts in the stem cell for cancer treatment fields. All those discussions and research indicated that this technology has merit."

Frederick Daso: What led you and your team to identify that stem cells could be potentially used to prevent neurodegenerative disease?

Nabeel Quryshi: I wouldn't single out a focus on neurodegenerative diseases. However, over the last decade, there has been a flurry of research around the use of stem cells to treat conditions such as Parkinson's, Dementia, Alzheimer's, etc. People are working on prevention, but there are two main use cases of stem cells currently. One is for treatment (replacement of damaged or lost cells), and the other is disease modeling (being able to model diseases and test the effects of new drugs completely in vitro without having to get a biopsy).

Daso: In the same ways that blood banks function, how did you manage to apply that concept to the storage of stem cells over a long time?

Quryshi: Cord blood banks and academic stem cell banks that use standardized cryopreservation protocols have been around for a while. The main innovation behind Evera was developing technology around the collection and preservation of urine-derived cells.

Daso: Why don't more mothers store their children's cord blood in stem cell banks? Is it mostly due to a price issue, or is there some other factor at play?

Quryshi: From the countless interviews we've done, it seems to be a price issue. Additionally, it's hard to make a sale around the time of birth as families have countless other things to worry about that are more immediate to the birth of a child.

Daso: What would be driving the growth of this market both now and in the future?

Quryshi: The growth of new cutting edge cell therapies is certainly further demonstrating the need for personal cell biobanking. Furthermore, the success of the direct to consumer genetic testing industry (23andMe, Ancestry, etc.) is a significant driver of growth. From the research we've conducted and the customers we have spoken to, individuals who have already taken 23andMe or another genetic test and know what they are at risk for genetically are looking for ways to take tangible action. Evera is that next step. Instead of just understanding what your future genetic risk is, Evera allows you to make a real biological investment in your future health and wellbeing. While knowing you're at risk for saying Parkinson's is excellent, being able to set aside your youngest cells so that one day you may be able to combat the effects of such a disease is terrific.

However, one should note that although the growth and technology coming from the cell therapy and stem cell therapy industry is astonishing, these are still projections. We have yet to see a fully FDA approved therapy that utilizes the specific types of stem cells we use (induced pluripotent stem cells). Nevertheless, by the time such treatments make it to the clinic, your cells will have aged significantly, and thus it makes sense to save them away now.

Daso: Could you walk me through the thought process of figuring out how to extract stem cells from urine? (From what I know, stem cells usually come from other parts of your body!)

Quryshi: Until around 2011/2012, you would have been right. However, utilizing the fantastic technology that comprised Dr. Yamanaka's 2006 Nobel Prize, scientists have been able to convert any cell in the human body to a kind of stem cell called an induced pluripotent stem cell. This cell has the capability of being able to differentiate into any cell type in the human body. We have advanced tech around the conversation of urine-derived cells to these iPSCs.

Daso: How have you designed your D2C service to ensure that a customer's DNA and associated data are not at risk?

Quryshi: We take data and privacy extremely seriously. We are well aware of the concerns people already have to D2C genetics products. To ensure the confidentiality and privacy of your data and sample, we separate your personally identifiable information from sample information and simultaneously use multiple layers of encryption and cryptography. Your sample and associated data cannot be associated with you individually. Furthermore, our facility is monitored 24/7 with top of the line security measures. We believe that your sample is your property.

Daso: What was the turning point during your undergrad to pursue this idea?

Quryshi: Having worked at 23andMe, I was able to get the lucky opportunity to be a part of arguably the world's most successful consumer genetics company. I saw first hand the benefits of providing customers with their genetic risk. Yet, I discovered that merely providing such risk predictions may not be enough led me to found Evera on the notion that tangibly investing in one's future health and wellbeing through cell banking will propel us into the age of personalized medicine.

Daso: How do you leverage your advisory board to navigate regulations and moral hazards in this space?

Quryshi: We have assembled a dream team consisting of experts in stem cell banking and cell therapy. Our co-founders and advisors comprise of professors from Harvard and Stanford, executives from companies such as Verily as well as top grad students and postdocs in stem cell biology from Harvard and Stanford. We work collaboratively to make sure we adhere to all regulations and ensure the secure preservation of our customer's cells.

If you enjoyed this article, feel free to check out my other work onLinkedInand my personal website,frederickdaso.com. Follow me on Twitter@fredsoda, on Medium@fredsoda, and on Instagram@fred_soda.

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Evera, A Harvard Consumer Biotech Company, Brings Stem Cell Banking To You - Forbes

A new market report by Market Research Intellect on the Direct-to-consumer Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

The research study includes the latest updates about the COVID-19 impact on the Direct-to-consumer Genetic Testing sector. The outbreak has broadly influenced the global economic landscape. The report contains a complete breakdown of the current situation in the ever-evolving business sector and estimates the aftereffects of the outbreak on the overall economy.

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The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Leading Direct-to-consumer Genetic Testing manufacturers/companies operating at both regional and global levels:

Sales and sales broken down by Product:

Sales and sales divided by Applications:

The report also inspects the financial standing of the leading companies, which includes gross profit, revenue generation, sales volume, sales revenue, manufacturing cost, individual growth rate, and other financial ratios.

The report also focuses on the global industry trends, development patterns of industries, governing factors, growth rate, and competitive analysis of the market, growth opportunities, challenges, investment strategies, and forecasts till 2026. The Direct-to-consumer Genetic Testing Market was estimated at USD XX Million/Billion in 2016 and is estimated to reach USD XX Million/Billion by 2026, expanding at a rate of XX% over the forecast period. To calculate the market size, the report provides a thorough analysis of the market by accumulating, studying, and synthesizing primary and secondary data from multiple sources.

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The market is predicted to witness significant growth over the forecast period, owing to the growing consumer awareness about the benefits of Direct-to-consumer Genetic Testing. The increase in disposable income across the key geographies has also impacted the market positively. Moreover, factors like urbanization, high population growth, and a growing middle-class population with higher disposable income are also forecasted to drive market growth.

According to the research report, one of the key challenges that might hinder the market growth is the presence of counter fit products. The market is witnessing the entry of a surging number of alternative products that use inferior ingredients.

Key factors influencing market growth:

Reasons for purchasing this Report from Market Research Intellect

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To summarize, the Direct-to-consumer Genetic Testing market report studies the contemporary market to forecast the growth prospects, challenges, opportunities, risks, threats, and the trends observed in the market that can either propel or curtail the growth rate of the industry. The market factors impacting the global sector also include provincial trade policies, international trade disputes, entry barriers, and other regulatory restrictions.

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Direct-to-consumer Genetic Testing Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Opportunities and Forecast 2026 -...

The treatment landscape for thyroid cancers has been enriched by several FDA approvals of targeted therapies, underscoring the importance for conducting genetic testing on patients with thyroid cancer before making treatment decisions.

Larotrectinib (Vitrakvi) was approved by the FDA in 2019 for the treatment of patients with solid tumors harboring an NTRK gene fusion. Entrectinib (Rozlytrek) was approved in 2019 for the treatment of patients with solid tumors harboring an NTRK gene fusion as well. While these fusions may be rarer in select cancer types, it is still important to test for this gene because both larotrectinib and entrectinib have been associated with more tolerable toxicity profiles compared with other available treatments.

Outside of TRK fusions, a RET inhibitor was also approved by the FDA, selpercatinib (LOXO-292), as treatment of patients with lung cancer or thyroid cancer harboring RET alterations. In thyroid cancer, this indication is specified for patients with advanced or metastatic RET-mutant medullary thyroid cancer or those with advanced or metastatic RET fusion-positive thyroid cancer who require systemic therapy and are radioactive iodine-refractory.

The approval of these targeted therapies in thyroid cancer suggests that physicians should be testing their patients for potential gene fusions or alterations. More therapies are under review in clinical trials or by the FDA for different therapies in thyroid cancer that will also rely on results from genetic testing. The highly selective RET inhibitor pralsetinib (BLU-667), for example, is under investigation now and has shown encouraging findings in thyroid cancer.

In an interview with Targeted Oncology, Marcia Brose, MD, PhD, director of the Center for Rare Cancers and Personalized Therapy, director of the Thyroid Cancer Therapeutics Program, associate professor of Otorhinolaryngology: Head and Neck Surgery at the Hospital of the University of Pennsylvania, and associate professor of Medicine at Penn Medicine, discussed the role of genetic testing in patients with thyroid cancer and the current treatment landscape.

TARGETED ONCOLOGY: How frequently areNTRKgene fusions observed in thyroid cancer?

Brose:NTRK gene fusions can be anywhere from extremely rare, less than 1% in a certain cancer to quite common in over 25% [with another cancer]. One of the things we know is that it is a little more common in both papillary thyroid cancer and metastatic colorectal cancer, which has microsatellite instability-high (MSI-H). MSI-H is 1 of the markers we check regularly in colon cancers, but it is probably in many other cancers as well.

TARGETED ONCOLOGY: What does prognosis look like for these patients?

Brose: For patients who have metastatic colorectal cancer that has not been responsive to other agents or metastatic thyroid cancer and no matter what therapies are available, they inevitably work for only so long. At that time, the prognosis starts to become quite grim. For patients with metastatic disease who are not cured, the prognosis depends on whether they have just been diagnosed or had not been diagnosed, had a lot of disease or not a lot of disease. The bottom line is they will not be cured. Even with all the therapies that we have, including the ones that work, they do not work forever. For that reason, we need to keep finding additional therapies that will help.

TARGETED ONCOLOGY: How often should physicians be conducting genomic testing for their patients with thyroid cancer? Do you think we are doing this enough right now?

Brose: We have enough targeted therapies now for thyroid cancer that we should know what the genetic and genomic landscape is for our patients before we even start any systemic therapy. The reason for that is 2-fold. First of all, this has to do with treatment planning. You may want to sequence the different therapies that are available in a certain way based on what you know is going to be available for the patient. The second very important thing is all the approved agents are not the same when it comes to tolerability. If a patient has access to a more tolerable agent because of a genetic marker in the tumor, you would want to know that because perhaps you would start with that and not have to deal with maybe quite as high a side effect profile.

TARGETED ONCOLOGY: Do you want to discuss these targeted therapies?

Brose: Currently for TRK fusion cancers, there are 2 FDA-approved agents. The first is larotrectinib, and the second is called entrectinib. Both of these agents target the TRK fusion, and the TRK fusion is the TRK gene that is stuck together with another gene. When things are stuck together, that activates that pathway, so much so that we think it caused that cancer to begin with. What we do is we test for those, and if we can actually target that abnormal pathway with an agent, we have a chance of directly getting at the cause of cancer. Both larotrectinib and entrectinib do a good job at inhibiting the TRK fusion gene. As a result, they do a good job at stopping these cancers from growing. In many cases, it causes quite a significant amount of shrinkage, so much so that sometimes the shrinkage is so great you cannot even find the disease anymore. I would never say the word cure because we dont have any data to say people are cured, but getting the disease burden down to be so small that we cannot find it on a CAT scan, that is a new level of response we have not been able to achieve with other agents.

TARGETED ONCOLOGY: How do you sequence agents in patients with thyroid cancer?

Brose: We look at treating these patients. We say if you find a patient who has a TRK fusion, when we start them on therapy, they have a choice of starting with the TRK gene with either larotrectinib or entrectinib or starting on the FDA-approved lenvatinib (Lenvima) or sorafenib (Nexavar). Both lenvatinib and sorafenib, while they have been very useful and active agents, they do have a side effect profile. Larotrectinib and entrectinib have better side effect profiles, so patients do not experience as many issues with high blood pressure, skin issues, or even fatigue. For that reason, if I have that option and they do have a TRK gene fusion, I am likely to choose that in the first place. I would use [larotrectinib or entrectinib] as first-line therapy.

I will point out that TRK fusions are still the minority of these patients. It is important to know if they have it or not, so we probably will not be using this in a lot of people. However, it is 1 of those instances where we have a really good therapy that you dont want to miss in 1 of your patients.

TARGETED ONCOLOGY: Besides these fusions, are there other fusions or mutations physicians should be testing for now?

Brose: Interestingly, a RET inhibitor, selpercatinib, was recently approved by the FDA. In metastatic differentiated thyroid cancer, there is a small population of patients who have RET fusions. In addition, patients with medullary thyroid cancer have RET-point mutations. In my opinion, given the ability, I would prefer to check both genetic and genomic.

TARGETED ONCOLOGY: Are there any other new treatments coming down the pipeline in thyroid cancer?

Brose: The most exciting thing happening right now are the RET inhibitors. Selpercatinib was approved recently by the FDA, and pralsetinib is another that is probably going to become approved in the coming year. This has been a game changer for patients with metastatic medullary thyroid cancer, as well as the subtype of differentiated thyroid cancer. Those are exciting the most.

We are still finding out whether immunotherapy has a role. At this point, the data has not lived up to what I had hoped, so I do not feel that right now we have a big immunotherapy combination Im excited about. However, Im still waiting on some more data in the coming year, and hopefully there will be some good combinations of immunotherapy with the kinase inhibitors that are already approved.

TARGETED ONCOLOGY: What is your key takeaway on the treatment landscape right now?

Brose: I personally feel that all patients with solid tumors who have metastatic disease and are not curable, they should all have genetic testing done to find if they have any point mutations or gene fusions. At a minimum, many of the mutations we find by doing genetic testing has a prognostic indication, meaning knowing a genetic mutation may change what we expect as far as how well a patient will do. In many cases, more than just being prognostic, it can also predict responses to some of these new agents that are a new level of agents that can create a very good response with really tolerable, if any, side effects. I think it is exciting because we have not had these agents up until now. As a physician, this is something I think we all need to know about.

Here is the original post:
Genetic Testing Becomes Vital in Sequencing Treatments for Patients With Thyroid Cancer - Targeted Oncology

DUBLIN--(BUSINESS WIRE)--The "Genetic Testing. Global Market Forecasts for Applications and Technologies. Updated for COVID-19 Pandemic impact with Executive and Consultant Guides 2020 to 2024" report has been added to ResearchAndMarkets.com's offering.

This report explores how the large genetic testing cancer segment has been impacted by COVID-19. Genetic Blizzard is creating a confusing array of new tests. Will all newborns receive Whole Genomic Sequencing at birth? What has happened to Direct to Consumer?

The role of genetics in health and disease is just now being understood. This new knowledge, combined with lower pricing is driving the Genetic Testing industry to record growth. New drugs may only work for people with a certain genetic makeup, and this too is driving the Genetic Testing Industry. The traditional genetic testing market is growing in volume and growing in the breadth of tests creating a new life for the industry. The report forecasts the market size out to 2024. The report includes detailed breakouts for 14 countries and 5 regions.

Predictive Diagnostics? Pharmacogenomic Testing? Direct to Consumer? Find out about the technology in readily understood terms that explain the jargon. What are the issues? Find the opportunities and pitfalls. Understand growth expectations and the ultimate market forecasts for the next five years.

Key Topics Covered:

1. Introduction and Market Definition

1.1 Genetic Testing Definition in This Report

1.2 The Genomics Revolution

1.3 Market Definition

1.4 U.S. Medical Market and laboratory Testing - Perspective

2. Market Overview

2.1 Market Participants Play Different Roles

2.2 Genetic Tests -Types, Examples and Discussion

2.3 Industry Structure

2.4 Market Shares of Key Genetics Players - Analysis

3. Market Trends

3.1 Factors Driving Growth

3.2 Factors Limiting Growth

3.3 Instrumentation and Automation

3.4 Diagnostic Technology Development

4. Genetic Testing Recent Developments

5. Profiles of Key Companies

6. Global Market Size

6.1 Global Market by Country

6.2 Global Market by Application

6.3 Global Market by Technology

7. Market Sizes by Application

7.1 Newborn Testing Market

7.2 NIPT Market

7.3 Predictive Testing Market

7.4 Oncology Testing Market

7.5 DTC Testing Market

7.6 Other Testing Market

8. Global Genetic Testing Market by Technology

9. The Future of Genetic Testing

For more information about this report visit https://www.researchandmarkets.com/r/jp4uin

About ResearchAndMarkets.com

ResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends.

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Global Genetic Testing Market Forecasts for Applications and Technologies 2020-2024, Updated in Light of Impact of COVID-19 Pandemic -...

The latest on the coronavirus in the U.S. and around the world.

Research from genetic-testing giant 23andMe Inc. found differences in a gene that influences a persons blood type can affect a persons susceptibility to COVID-19.

Scientists have been looking at genetic factors to try to determine why some people who contract the new coronavirus experience no symptoms, while others become gravely ill. In April, 23andMe launched a study that sought to use the millions of profiles in its DNA database to shed light on the role genetics play in the disease.

Preliminary results from more than 750,000 participants suggests type O blood is especially protective against SARS-CoV-2, the virus that causes COVID-19, the company said on Monday. The findings echo other research that has indicated a link between variations in the ABO gene and COVID-19.

Many other groups, including 23andMe competitor Ancestry Inc., are combing the genome to help make sense of the virus. It is known that factors such as age and underlying health conditions can determine how people fare once theyve contracted COVID-19. But those factors alone dont explain the wide diversity of symptoms, or why some people contract the disease and others dont. Studying the genetics of the people who are more susceptible to SARS-CoV-2 could help identify and protect those more at risk, as well as help speed treatment and drug development.

Several other studies looking at both severity of illness and susceptibility to disease have also suggested blood type plays a role.

Research published last week prior to peer review suggested blood type may play a role in the severity of patients reactions to SARS-CoV-2. That study looked at the genes of more than 1,600 patients in Italy and Spain who experienced respiratory failure and found that having type A blood was linked to a 50 percent increase in the likelihood a patient would require a ventilator. An earlier Chinese study turned up similar results regarding a persons susceptibility to COVID-19.

Read the full story about blood type and the coronavirus here.

World Bank forecasts worst recession in 8 decades amid pandemic

The global economy will contract the most since World War II this year and emerging nations output will shrink for the first time in at least six decades due to the COVID-19 pandemic, reducing incomes and sending millions of people into poverty, the World Bank said.

Global gross domestic product will probably shrink 5.2 percent in 2020, the Washington-based development organization said in its semi-annual Global Economic Prospects report Monday. Emerging and developing economies will shrink 2.5 percent, their worst performance in data that starts in 1960, it said.

Per-capita output will contract in more than 90 percent of countries, the biggest share since 1870. This decline may push 70 million to 100 million people into extreme poverty, Ceyla Pazarbazioglu, the World Banks vice president of equitable growth, finance and institutions, told reporters by phone.

The forecast for a global contraction compares with a January projection for a 2.5 percent expansion and would be the fourth-deepest recession of the past 150 years after 1914, 1930-32 and 1945-46, the World Bank said.

This is the first recession since 1870 triggered solely by a pandemic, and it continues to manifest itself, Pazarbazioglu said. Given this uncertainty, further downgrades to the outlook are very likely.

Advanced economies will shrink 7 percent, led by a 9.1 percent contraction in the euro area, the lender said.

Emerging economies with limited health-care capacity, deeply integrated global value chains, heavy dependence on foreign financing and extensive reliance on international trade, commodity exports and tourism are likely to be the hardest hit.

The economy will rebound in 2021, growing 4.2 percent, the lender said.

The World Bank presents two alternative scenarios. In one, where the COVID-19 outbreak persists for longer than expected, requiring the continuation or reintroduction of restrictions on movement, the global economy would shrink almost 8 percent this year. If control measures can be largely lifted in the near term, the contraction would be 4 percent still more than twice as deep as the global financial crisis of 2009.

New Yorks rate of virus infections at its lowest, Cuomo says

Only 1.2 percent of New Yorkers tested Sunday were infected with the new coronavirus, the lowest rate since the pandemic began, Gov. Andrew Cuomo, D, said.

Why are we reopening? Because these numbers say we can, Cuomo said at a news conference in Manhattan.

On Sunday, 58,054 tests were done statewide, and 702 people were found to be positive for COVID-19, Cuomo said.

The positive rate was higher in New York City, at 2 percent, but the governor said the citys Monday reopening would continue apace. The revival of the nations capital of commerce and culture comes after months of quarantine that ended with an explosion of street protests over police violence that some worry may set off another wave of disease.

As the city returns to life, Cuomo rode a conspicuously clean subway car to boost confidence.

Masks are mandatory for those riding buses and trains, Cuomo said. The state is sending 1 million masks and 25,000 gallons of hand sanitizer to the Metropolitan Transportation Authority, as well as 500,000 2-ounce bottles.

When asked whether an increase in subway ridership would cause a spike in cases, Cuomo said that the trains have been running throughout the pandemic.

If theyre using the sanitizer, if theyre using the masks, it will be OK, Cuomo said. If were going to have a problem, the variable here is: Did the protests have an effect? I dont know, and I dont want to speculate. Thats why Im asking them to actually get tests.

Swedens PM rebuked as coronavirus deaths ignite political anger

The prime minister of Sweden was forced to defend his covid-19 strategy after opposition parties mounted a scathing attack on his government amid signs its handling of the pandemic has been fatally flawed.

With more than 4,500 Swedes now dead as a result of the coronavirus, and Swedens chief epidemiologist admitting mistakes, Prime Minister Stefan Lofven was the target of a series of rebukes during a debate among party leaders broadcast on Sunday night.

Ulf Kristersson, the leader of the main opposition party known as the Moderates, said there have been obvious, fundamental failures in Swedens response to covid-19.

Read the rest of the story here.

Travelers to Britain must quarantine for 2 weeks

LONDON Travelers to Britain are now being required to go into quarantine for two weeks a sweeping measure meant to halt the further spread of COVID-19.

Starting Monday, all passengers will be asked to fill in a form detailing where they will self-isolate, with only a few exceptions. Those who fail to comply with the quarantine rules could be fined.

Ryanair chief executive Michael OLeary says the quarantine will cause untold devastation for the countrys tourism industry not just on the airlines.

He told the BBC that hotels, visitor attractions and restaurants will also be hurt, and thousands of jobs will be lost.

Shutdowns prevented mass death, study finds

Shutdown orders prevented about 60 million novel coronavirus infections in the United States and 285 million in China, according to a research study published Monday that examined how stay-at-home orders and other restrictions limited the spread of the contagion.

A separate study from epidemiologists at Imperial College London estimated that the shutdowns saved about 3.1 million lives in 11 European countries, including 500,000 in the United Kingdom, and dropped infection rates by an average of 82 percent, sufficient to drive the contagion well below epidemic levels.

The two reports, published Monday in the journal Nature, provide fresh evidence that aggressive and unprecedented shutdowns, which caused massive economic disruptions and job losses, were necessary to halt the exponential spread of the novel coronavirus.

Read the rest of the story here.

Moldova registers record number of new cases

CHISINAU, Moldova The government of Moldova says it has registered a record number of new cases of the new coronavirus during the first week of June, as a former health minister described the pandemic situation in the country as out of control.

One of the poorest countries in Europe and plagued by corruption and political turmoil, Moldova confirmed 1,449 new cases of COVID-19 during June 1-7, nearly 300 more than the previous week, according to data from the Ministry of Health. It was the fourth consecutive week with more than 1,000 new cases.

Since its first confirmed case on March 7, Moldova population 3.5 million has registered 9,700 cases and 346 deaths.

Former Health Minister Ala Nemerenco was very critical of the governments handling of the pandemic.

You dont have to be an epidemiologist, a virologist, or even a doctor to understand that the situation has gotten out of control, Nemerenco said in a Facebook post in reference to the rising number of cases.

Poland closing 12 coal mines after outbreak

WARSAW, Poland Polish authorities have ordered the closure of 12 coal mines for three weeks after hundreds of workers were infected with COVID-19.

The measure announced on Monday comes as coal mines in Polands southern mining region of Silesia have become hot spots for the transmission of the novel coronavirus.

Deputy prime minister Jacek Sasin said that the measure will take effect on Tuesday and is aimed at suppressing the epidemic. He added that the miners will continue to receive their full pay.

It is very important for us not to punish the miners economically for the infections at mines that have made us take this decision, Sasin told reporters.

In some other earlier cases, miners told not to work because of the epidemic saw their wages reduced, increasing their frustration ahead of a presidential election that is crucial to Polands governing conservatives.

Poland has so far recorded about 27,000 cases of coronavirus, which is far less than many other European countries. Yet nearly 5,000 of the confirmed cases are coal miners. That is an extremely high infection rate in the sector given that there are just 82,000 miners in the nation of 38 million people.

Turkish Airlines offers discount for health care workers

ANKARA, Turkey Turkish Airlines says it is offering a 40 percent discount on airfares for health care workers across the globe.

The national flag carrier said Monday the campaign was aimed at people who are working selflessly to combat the COVID-19 pandemic. Up to three people traveling with a health care worker would be able to benefit from the discount, the airline said.

The tickets must be purchased before Aug. 1 for flights before May 31, 2021.

Turkish airline companies resumed domestic flights last week. International flights are scheduled to resume gradually as of June 10.

Moscow ends tight lockdown after 2 months

MOSCOW The Russian capital is ending a tight lockdown that has been in place for more than two months, citing a slowdown in the coronavirus outbreak.

Moscow Mayor Sergei Sobyanin said that starting Tuesday residents will no longer be required to obtain electronic passes for travel and can walk, use public transport and drive without any restrictions.

Hairdressers and beauty salons will be allowed to reopen Tuesday, and cafes and restaurants will be able to open outdoor terraces starting June 16.

Under the lockdown imposed in late March, all nonessential businesses were closed and residents were only allowed to shop at nearby stores and pharmacies, visit doctors and walk their dogs.

The restrictions have been gradually eased. Industrial plants and construction sites were allowed to start working on May 12 and non-food retailers were permitted to reopen last Monday.

The number of daily infections in Moscow has dropped from a peak of about 6,700 to about 2,000 recently. Overall, Russia has registered over 476,000 infections, the worlds third-highest caseload after the United States and Brazil, including 5,971 deaths.

Moscow has accounted for nearly half of the nations infections and coronavirus deaths. Many of Russias 85 regions already have eased their lockdowns.

Armenian prime minister recovers from virus

YEREVAN, Armenia Armenian Prime Minister Nikol Pashinian says he and his family have recovered from the coronavirus.

Pashinian said on Facebook that he and his family members tested negative Monday for a second time in as many days.

Pashinian announced that he was infected a week ago, adding that he probably contracted the virus from a waiter who brought him a glass a water at a meeting without wearing gloves and later tested positive for the virus.

Armenia has so far reported over 13,000 infections, including 211 deaths, among its population of nearly 3 million.

China sends doctors to Bangladesh

DHAKA, Bangladesh China has sent a 10-member team of physicians to Bangladesh to help hospitals and doctors fight coronavirus as the South Asian nations total infections are nearing 70,000.

The team consists of 10 respiratory physicians selected by the Hainan Provincial Health Commission in China, according to the Chinese Embassy in Dhaka.

Bangladeshi Foreign Minister A.K. Abdul Momen was in Dhakas international airport to receive the team. He said the country was seeking cooperation and partnership to deal with the pandemic.

On Monday, the Health Directorates senior official said another 42 people died of coronavirus and 2,735 people were infected in the previous 24-hour period, raising the total infections to 68,504.

A total of 930 people have died since the first positive case was confirmed on March 8.

Officials in Cyprus continue to stress social distancing rules

NICOSIA, Cyprus Cypriot officials are warning against undue complacency in enforcing social distancing rules after video emerged of an open-air nightclub at a popular seaside resort jam-packed with patrons.

Cyprus police spokesman Christos Andreou told The Associated Press on Monday that the nightclubs owner faces a charge of flouting maximum capacity limits set out under a Health Ministry order.

Andreou said police are taking the owner to court because he was repeatedly warned over the weekend not to exceed the allowable capacity. Andreou said police will also seek a court order to temporarily shut down the Ayia Napa establishment.

Justice Minister George Savvides posted on his official Twitter account on Sunday that the nightclub acted inconceivably irresponsibly for the sake of profit.

Earlier, Health Minister Constantinos Ioannou also tweeted that such behavior could make a return to lockdown measures inevitable.

Cyprus is eager to get its key tourism sector back on track after a two-month lockdown, but officials say they wont allow anyone to cut corners on what they need to do to protect against the spread of COVID-19.

Commercial flights from a limited number of countries resume on Tuesday. Cyprus has lifted almost all restrictions, but a ban on indoor bar and nightclub openings remains in force.

Bars reopen today in Greece

ATHENS, Greece Bars, nightclubs and internet cafes are allowed to reopen from Monday in Greece, where an early lockdown is credited with keeping the number of coronavirus deaths and serious illnesses at low levels.

Nearly all lockdown measures have now been lifted in a phased reopening, with regulations in place for businesses to maintain limits on the number of customers allowed and distances to be maintained.

Most bars, nightclubs and restaurants operate outdoors in Greece during the summer months, which has helped authorities in allowing their reopening.

However, government and health authorities warn local lockdowns could be imposed if violations in social distancing regulations lead to outbreaks.

Indian begins reopening even as virus cases grow

NEW DELHI India is reopening its restaurants, shopping malls and religious places in most states even as the number of coronavirus cases and deaths in the country grows.

The Health Ministry reported another 9,983 cases Monday, raising Indias count past 256,000 to fifth most in the world. The 206 fatalities reported Monday were the highest single-day rise and takes the countrys death toll to 7,135.

New Delhi is also reopening its state borders, allowing interstate movement of people and goods.

India already partially restored train services and domestic flights and allowed shops and manufacturing to reopen.

Schools remain closed.

The number of new cases has soared since the government began relaxing restrictions. There has also been a surge in infections in Indias vast countryside following the return of hundreds of thousands of migrant workers who left cities and towns after losing their jobs.

Number of infections spirals upward in Pakistan

Link:
The Latest: Genetic testing offers more evidence that blood type plays role in effects of virus - Press Herald

At the consumer genetics giant 23andMe, CEO Anne Wojcicki last week issued a remarkable statement calling her product euro-centric and saying her company is part of the problem.

Competitor Ancestry put out its own statement saying it has a long, long way to go to make our product experience as inclusive as it can possibly be for everyone. And the DNA testing startup Nebula Genomics published a blog post about the lack of diversity in their field a post that was drafted months ago, but which the company held off on publishing because of concerns about how it would be received.

The reflections in the consumer genetics industry were triggered by the anti-racism protests following the killing of George Floyd. But the underlying issues are not new. The field of genetics has long been seen as too white in its leadership, its data, and its products.

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Geneticists have been grappling for years some more urgently than others with the underrepresentation of Black individuals and other people of color in genetic studies, databases, and the reference genome. While theres been some halting progress, these problems have resulted in tests that only work for people of European ancestry and have undermined hopes that everyone might benefit from personalized medicine.

STAT asked five experts in genetics and in health disparities to weigh on what 23andMe and its competitors should do to address these problems. Heres what they had to say:

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In 23andMes statement last week, Wojcicki said she was ashamed to say I do not have a single black employee who is at Director level or above. She also said her companys management team, board, and employee base need to be more diverse.

Lack of diversity among employees and executives at a company like 23andMe can send a message to potential customers and potential hires from underrepresented groups that theyre neither welcome nor represented, said geneticist Tshaka Cunningham.

How can you foster trust with me as an African American if I dont see any African Americans on your team? said Cunningham, co-founder and chief scientific officer of TruGenomix, a startup thats working on recruiting diverse cohorts to develop a test to gauge genetic risk for developing post-traumatic stress disorder.

Addressing inequities in hiring, promoting, and retaining employees is important on a fundamental level, Cunningham said. But a diverse team might also help a company avoid missteps such as the ad from Ancestry that was pulled last year after being widely condemned as racist; it depicted a romance between a white man and a Black woman in the antebellum South without addressing the unequal power dynamics and exploitation involved in such relationships of that era.

Having a broader range of perspectives at the table could also help companies better navigate the shortcomings of polygenic risk score tests analyses that gather multiple genetic variants that, together, are used to predict someones chance of developing a disease. So far, many commercial tests have come with warnings that theyre not very accurate or are even useless in people who are not of European ancestry. Thats due to the disproportionately low representation of other populations in the datasets used to build the tests. 23andMes polygenic risk score test for type 2 diabetes, introduced last year, had lower predictive power in African Americans than in any other group.

By the time they get to posting the statement on the website that the polygenic risk score is not going to be of any use to Black people but were still going to take your money for it, there are many other decisions that have been made and plenty of places where that discussion should have been halted to have a deeper conversation and thought about what to do, said Consuelo Wilkins, a physician who serves as vice president for health equity at Vanderbilt University Medical Center.

Before the pandemic, Cunningham traveled widely to speak at Black churches about the value of genetic research. It was part of his role as executive director and science advisory board member of the nonprofit Faith Based Genetic Research Institute.

As I go around the country talking to people of color about genomics and encouraging them to participate and get sequenced, the questions I get are: What are they going to do with that information, and how are they going to use it to hurt me? And then why would I give my information so somebody else can make money off of it? Cunningham said.

23andMe spells out its privacy policies online. Its customers must opt in to any of its research and it promises not to sell peoples individual-level data, though it does reserve the right to sell data that are aggregated and anonymized. But those disclosures may not be enough to build trust in communities of color that have been betrayed by medical researchers many times before.

Thats why 23andMe and other genetics researchers must go above and beyond when it comes to being transparent with minority communities about how theyre using their data, said KyEra Actkins, a Ph.D. student who studies human genetics at Meharry Medical College, a historically Black institution in Nashville, Tenn.

Another key step: Try to show people the benefits of what the science community is doing in terms of helping different minority populations or diverse populations and those who may not have always been very represented in the research that has been done historically, Actkins said.

But complicating such communication is the fact that 23andMe and other genetic testing companies arent making the same pitch to minority communities as, say, the National Institutes of Healths All of Us data-gathering program, which is meant to advance precision medicine for everyone in the U.S. While these companies do have a mission to advance scientific research, theyre also trying to sell spit kits and make money. Its not always clear that people of color will benefit from buying a 23andMe test or participating in one of the companys research studies any more than they would from engaging with some other consumer product.

The question is why would someone want to participate. Its a for-profit program, and for a for-profit company.

Consuelo Wilkins, vice president for health equity at Vanderbilt University Medical Center

When it comes to 23andMe, the question is why would someone want to participate. Its a for-profit program, and for a for-profit company. Why would people who are ethnic minorities want to pay for services that they may benefit less from than people of European descent? Wilkins said.

Its critical for 23andMe to demonstrate the value of its spit kits to communities of color, Wilkins said. The company should address whether it plans to take steps that would make the decision to hand over genetic data to the company more valuable over time, she said. That might include developing more robust reference datasets, reinterpreting genetic variants currently classified as being of unknown significance, and expanding its ancestry data to be more precise for people who are of African and Asian descent, she said.

The experts consulted by STAT called on 23andMe to prioritize recruiting underrepresented populations to enroll in its research studies an endeavor that, to the companys credit, its been working on for years.

In 2011, the company launched its Roots into the Future program, a genetic study of more than 10,000 African Americans. In 2016, 23andMe started its African Genetics Project, a study recruiting first- or second- generation emigrants from several countries in sub-Saharan Africa. 2018 saw the launch of 23andMes Global Genetics Project, which aims to expand the companys population reference data by collecting data from individuals with recent heritage from dozens of countries in Africa, Oceania, Asia, and the Americas.

23andMe has also received funding from the NIH to try to address disparities in genetic research, such as a project to create a reference panel of information to help scientists develop studies that benefit the African American community. The NIH has also funded 23andMes effort to develop a new way to detect disease-causing genetic variants among ethnically diverse populations.

These projects have made a dent in the problem. But the people of color recruited through these initiatives still represent only a tiny fraction of the millions of people in 23andMes databases.

Joyce Tung, 23andMes vice president of research whos been at the company for more than a decade, acknowledged in a statement to STAT that her company and the broader scientific community still have a long way to go in diversifying genetic research. There is no silver bullet to solve this problem, and it will require prioritizing multiple efforts now and into the future in order to ensure that we help everyone benefit from the human genome, Tung said.

Separate from concerns about diversity, some experts and startups have questioned the idea that people should be asked to pay for genetic tests and reports about their health and ancestry from commercial companies. 23andMe, after all, benefits enormously from the genetic data that people pay $100 or more to share and the scarcity of data from people from underrepresented groups makes their samples all the more valuable.

All of which raises the question: Should 23andMe pay people Black communities and other underrepresented populations for their data?

Cunningham thinks so. He pointed to the example of LunaDNA a platform which offers ownership shares to people who contribute their DNA and called for 23andMe to adopt a revenue-sharing model with communities of color.

The current model just doesnt work for many folks, Cunningham said.

Not all the experts agreed. They said they worried that offering money to give up genetic data, particularly given the economic crisis caused by Covid-19, could be considered coercive or might be frowned upon by the institutional review boards that decide whether to green-light studies.

With the current unemployment rate, how do you incentivize that in a way that would not be judged by an institutional review board as being coercive in some sense? said Nancy Cox, who directs the genetics institute at Vanderbilt University Medical Center.

Cox did not see an easy answer.

Experts consulted by STAT emphasized that the blame for the whiteness of genetics and the responsibility for diversifying it should not lay entirely at the feet of 23andMe.

Along with academic researchers and other genetics companies, other players in the ecosystem around genetic data have a responsibility to take steps that could incentivize more equitable genetic research, the experts said.

For example: Drug companies that purchase aggregated and de-identified genetic data from companies like 23andMe could commit to prioritizing purchasing diverse datasets or to paying more for them, said Robert Green, a medical geneticist and physician at Harvard and Brigham and Womens Hospital. Green advises several genetic testing companies and has worked closely with Cunningham and others to try to recruit diverse populations for his teams genetic studies.

Green added: We all have to take some responsibility at every level for this.

Read the rest here:
Geneticists weigh in on how 23andMe can tackle racial inequity in the field - STAT

Dive Brief:

FDA granted emergency use authorization to Phosphorus'unsupervised, at-home saliva test for COVID-19, the medical genetic testing company disclosedMonday.

Most test kits that allow at-home sample collection still use nasal swabs.But the agency previously OK'd a saliva-based test developed at Rutgers University, which is being distributed by a number of telemedicine providers,and one from Little Rock, Arkansas-based P23 Labs.

In the case of genomics startup Phosphorus, individuals can access the saliva-based test without using an outside telemedicine platform. Individuals requesta test online, complete a medical questionnaire, follow the instructions that come with the sample collection kit that arrives via mail and use a prepaid pack to send the saliva for analysis.

Phosphorus has marketed in the COVID-19 testing space since April, when it launched an IgG and IgM antibody test. In mid-May, the company announced it had viral and antibody COVID-19 tests available for home delivery in the New York City metro area, in which tests could be ordered online and then administered by licensed, in-home healthcare providers.

The company is aiming to further expand its COVID-19 testing reach with direct online ordering of its saliva-based test, now authorized by FDA for emergency use.

FDA greenlit the use of the Phosphorus and RUCDR tests after seeing data showing they deliver results consistent with the analysis of samples taken with nasopharyngeal swabs.

In eliminating the need for healthcare professionals to supervise the collection process, Phosphorus has removed one constraint on testing capacity. RUCDR, the Rutgers entity behind the first saliva-based test allowed by FDA for home collection,faces that constraint, but has partnered with companies like Vault Health to help.

Vault Health has an existing telemedicine platform to provide health services to men. Working with RUCDR, the startup is applying those capabilities amid COVID-19, enabling patients to log in to Zoom to provide samples under the supervision of a healthcare provider.

After talking to management at Vault Health on Monday afternoon, analysts at Jefferies called the company's direct-to-consumer test offering "surprisingly successful," noting just 2% of tests have come back as inconclusive.

"While the $150 price tag (reflective of Vault's cost per test) is higher than the $100 Medicare reimbursement for PCR and significantly higher than the cost per test at labs like [Quest Diagnostics,LabCorp and Opko Health], Vault has identified potential savings opportunities through expansion of scale with capacity currently at only 50k tests/day," the analysts wrote in a note to investors.

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FDA expands at-home, saliva-based coronavirus testing with nod to Phosphorus - MedTech Dive

A new market report by Market Research Intellect on the Direct-Access Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

The research study includes the latest updates about the COVID-19 impact on the Direct-Access Genetic Testing sector. The outbreak has broadly influenced the global economic landscape. The report contains a complete breakdown of the current situation in the ever-evolving business sector and estimates the aftereffects of the outbreak on the overall economy.

Get Sample Copy with TOC of the Report to understand the structure of the complete report @ https://www.marketresearchintellect.com/download-sample/?rid=174200&utm_source=COD&utm_medium=888

The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Leading Direct-Access Genetic Testing manufacturers/companies operating at both regional and global levels:

Sales and sales broken down by Product:

Sales and sales divided by Applications:

The report also inspects the financial standing of the leading companies, which includes gross profit, revenue generation, sales volume, sales revenue, manufacturing cost, individual growth rate, and other financial ratios.

The report also focuses on the global industry trends, development patterns of industries, governing factors, growth rate, and competitive analysis of the market, growth opportunities, challenges, investment strategies, and forecasts till 2026. The Direct-Access Genetic Testing Market was estimated at USD XX Million/Billion in 2016 and is estimated to reach USD XX Million/Billion by 2026, expanding at a rate of XX% over the forecast period. To calculate the market size, the report provides a thorough analysis of the market by accumulating, studying, and synthesizing primary and secondary data from multiple sources.

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The market is predicted to witness significant growth over the forecast period, owing to the growing consumer awareness about the benefits of Direct-Access Genetic Testing. The increase in disposable income across the key geographies has also impacted the market positively. Moreover, factors like urbanization, high population growth, and a growing middle-class population with higher disposable income are also forecasted to drive market growth.

According to the research report, one of the key challenges that might hinder the market growth is the presence of counter fit products. The market is witnessing the entry of a surging number of alternative products that use inferior ingredients.

Key factors influencing market growth:

Reasons for purchasing this Report from Market Research Intellect

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Market Research Intellect also provides customization options to tailor the reports as per client requirements. This report can be personalized to cater to your research needs. Feel free to get in touch with our sales team, who will ensure that you get a report as per your needs.

Thank you for reading this article. You can also get chapter-wise sections or region-wise report coverage for North America, Europe, Asia Pacific, Latin America, and Middle East & Africa.

To summarize, the Direct-Access Genetic Testing market report studies the contemporary market to forecast the growth prospects, challenges, opportunities, risks, threats, and the trends observed in the market that can either propel or curtail the growth rate of the industry. The market factors impacting the global sector also include provincial trade policies, international trade disputes, entry barriers, and other regulatory restrictions.

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Direct-Access Genetic Testing Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Opportunities and Forecast 2026 - Cole of...

A new market report by Market Research Intellect on the Breast Cancer Predictive Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

The research study includes the latest updates about the COVID-19 impact on the Breast Cancer Predictive Genetic Testing sector. The outbreak has broadly influenced the global economic landscape. The report contains a complete breakdown of the current situation in the ever-evolving business sector and estimates the aftereffects of the outbreak on the overall economy.

Get Sample Copy with TOC of the Report to understand the structure of the complete report @ https://www.marketresearchintellect.com/download-sample/?rid=230278&utm_source=COD&utm_medium=888

The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Leading Breast Cancer Predictive Genetic Testing manufacturers/companies operating at both regional and global levels:

Sales and sales broken down by Product:

Sales and sales divided by Applications:

The report also inspects the financial standing of the leading companies, which includes gross profit, revenue generation, sales volume, sales revenue, manufacturing cost, individual growth rate, and other financial ratios.

The report also focuses on the global industry trends, development patterns of industries, governing factors, growth rate, and competitive analysis of the market, growth opportunities, challenges, investment strategies, and forecasts till 2026. The Breast Cancer Predictive Genetic Testing Market was estimated at USD XX Million/Billion in 2016 and is estimated to reach USD XX Million/Billion by 2026, expanding at a rate of XX% over the forecast period. To calculate the market size, the report provides a thorough analysis of the market by accumulating, studying, and synthesizing primary and secondary data from multiple sources.

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The market is predicted to witness significant growth over the forecast period, owing to the growing consumer awareness about the benefits of Breast Cancer Predictive Genetic Testing. The increase in disposable income across the key geographies has also impacted the market positively. Moreover, factors like urbanization, high population growth, and a growing middle-class population with higher disposable income are also forecasted to drive market growth.

According to the research report, one of the key challenges that might hinder the market growth is the presence of counter fit products. The market is witnessing the entry of a surging number of alternative products that use inferior ingredients.

Key factors influencing market growth:

Reasons for purchasing this Report from Market Research Intellect

Customized Research Report Using Corporate Email Id @ https://www.marketresearchintellect.com/need-customization/?rid=230278&utm_source=COD&utm_medium=888

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Market Research Intellect also provides customization options to tailor the reports as per client requirements. This report can be personalized to cater to your research needs. Feel free to get in touch with our sales team, who will ensure that you get a report as per your needs.

Thank you for reading this article. You can also get chapter-wise sections or region-wise report coverage for North America, Europe, Asia Pacific, Latin America, and Middle East & Africa.

To summarize, the Breast Cancer Predictive Genetic Testing market report studies the contemporary market to forecast the growth prospects, challenges, opportunities, risks, threats, and the trends observed in the market that can either propel or curtail the growth rate of the industry. The market factors impacting the global sector also include provincial trade policies, international trade disputes, entry barriers, and other regulatory restrictions.

About Us:

Market Research Intellect provides syndicated and customized research reports to clients from various industries and organizations with the aim of delivering functional expertise. We provide reports for all industries including Energy, Technology, Manufacturing and Construction, Chemicals and Materials, Food and Beverage and more. These reports deliver an in-depth study of the market with industry analysis, market value for regions and countries and trends that are pertinent to the industry.

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Breast Cancer Predictive Genetic Testing Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Opportunities and Forecast 2026...

A new market report by Market Research Intellect on the Direct-To-Consumer (DTC) Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

The research study includes the latest updates about the COVID-19 impact on the Direct-To-Consumer (DTC) Genetic Testing sector. The outbreak has broadly influenced the global economic landscape. The report contains a complete breakdown of the current situation in the ever-evolving business sector and estimates the aftereffects of the outbreak on the overall economy.

Get Sample Copy with TOC of the Report to understand the structure of the complete report @ https://www.marketresearchintellect.com/download-sample/?rid=248561&utm_source=COD&utm_medium=888

The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Leading Direct-To-Consumer (DTC) Genetic Testing manufacturers/companies operating at both regional and global levels:

Sales and sales broken down by Product:

Sales and sales divided by Applications:

The report also inspects the financial standing of the leading companies, which includes gross profit, revenue generation, sales volume, sales revenue, manufacturing cost, individual growth rate, and other financial ratios.

The report also focuses on the global industry trends, development patterns of industries, governing factors, growth rate, and competitive analysis of the market, growth opportunities, challenges, investment strategies, and forecasts till 2026. The Direct-To-Consumer (DTC) Genetic Testing Market was estimated at USD XX Million/Billion in 2016 and is estimated to reach USD XX Million/Billion by 2026, expanding at a rate of XX% over the forecast period. To calculate the market size, the report provides a thorough analysis of the market by accumulating, studying, and synthesizing primary and secondary data from multiple sources.

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The market is predicted to witness significant growth over the forecast period, owing to the growing consumer awareness about the benefits of Direct-To-Consumer (DTC) Genetic Testing. The increase in disposable income across the key geographies has also impacted the market positively. Moreover, factors like urbanization, high population growth, and a growing middle-class population with higher disposable income are also forecasted to drive market growth.

According to the research report, one of the key challenges that might hinder the market growth is the presence of counter fit products. The market is witnessing the entry of a surging number of alternative products that use inferior ingredients.

Key factors influencing market growth:

Reasons for purchasing this Report from Market Research Intellect

Customized Research Report Using Corporate Email Id @ https://www.marketresearchintellect.com/need-customization/?rid=248561&utm_source=COD&utm_medium=888

Customization of the Report:

Market Research Intellect also provides customization options to tailor the reports as per client requirements. This report can be personalized to cater to your research needs. Feel free to get in touch with our sales team, who will ensure that you get a report as per your needs.

Thank you for reading this article. You can also get chapter-wise sections or region-wise report coverage for North America, Europe, Asia Pacific, Latin America, and Middle East & Africa.

To summarize, the Direct-To-Consumer (DTC) Genetic Testing market report studies the contemporary market to forecast the growth prospects, challenges, opportunities, risks, threats, and the trends observed in the market that can either propel or curtail the growth rate of the industry. The market factors impacting the global sector also include provincial trade policies, international trade disputes, entry barriers, and other regulatory restrictions.

About Us:

Market Research Intellect provides syndicated and customized research reports to clients from various industries and organizations with the aim of delivering functional expertise. We provide reports for all industries including Energy, Technology, Manufacturing and Construction, Chemicals and Materials, Food and Beverage and more. These reports deliver an in-depth study of the market with industry analysis, market value for regions and countries and trends that are pertinent to the industry.

Contact Us:

Mr. Steven Fernandes

Market Research Intellect

New Jersey ( USA )

Tel: +1-650-781-4080

Read more from the original source:
Direct-To-Consumer (DTC) Genetic Testing Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Opportunities and Forecast 2026...

A new study examining genetic diversity within dog breeds encourages dog breeders to consider the exchange of dogs between countries. Jaakko Pohjoismki, corresponding author of the study, takes us through the new analysis of breeding practices.

Jaakko Pohjoismaki 10 Jun 2020

In our study Variation in breeding practices and geographic isolation drive subpopulation differentiation, contributing to the loss of genetic diversity within dog breed lineages, published in Canine Medicine and Genetics, we used commercially obtained genomic data to study subpopulation differentiation in six popular dog breeds, Belgian Shepherd, English Greyhound, Finnish Lapphund, Italian Greyhound, Labrador Retriever and Shetland Sheepdog.

We found strong subpopulation differentiation in all of these breeds, which corresponded either to the geographic origin or the specialized breed lineages within the breeds. While we were expecting to see some differentiation, especially as the populations in some countries are based on a rather small number of founders, it was surprising to see how distinct these subpopulations were genetically and how rapid the genetic differentiation in some breeds had been. For example, the so-called herding lineage of the Finnish Lapphund has differentiated from the companion lineage in mere three decades without any geographic barriers, just driven by diverging kennel preferences.

Breed type differentiation in Belgian Shepherd and Finnish Lapphund. Pohjoismki et al.

Our observations have both practical as well as more philosophical outcomes for kennel practices. Breeding dogs to fulfill given breed ideals will, by definition, result in loss of unwanted variation and is the basis for breeding in all domesticated animals. In general, breed differentiation and uniformity is not bad as such, but many breeds are small by default and are in danger of suffering from the accumulated effects of inbreeding depression over the generations. Specialized lineages do not need to be abolished, but the breed organizations should be more proactive in mixing the dogs between the lineages or between closely related breeds. While the maintenance of specialized lineages might be justified in, for example, working breeds, the majority of phenotypic differentiation of breeds serves only our desire to create specialty. Furthermore, many of these specialty characteristics, such as coat color or type, are recessive single-gene traits. The recessive phenotypes can be obtained from planned crossings of heterozygous individuals, which can be identified with the help of genetic testing. It needs to be kept in mind that dog breeds result from man-made criteria, whose justifications for breeding should be critically evaluated and diverse breeding options preferred over narrow ideals.

In contrast to the wide-spread ideals of discrete, tightly defined breeds, there are some breeds such as the Nordic Spitz or Norrbottenspets, whose breeding attempts to mimic the natural selection operating in feral dogs and can be seen as an example of a paradigm change in kennel practices. This small hunting breed is maintained in Finland by strict limits on inbreeding, limiting the number of pups per sire to 30, having an open stud book and emphasizing working hunting dogs over looks or qualifications in dog shows, while requiring compulsory health checks for the breeding dogs. Despite being once close to extinction, it is at the moment one of the most genetically diverse dog breeds in the world.

Our study is also an example how commercially obtained genome data can be utilized to provide valuable information on subpopulation differentiation and genetic diversity of dog breeds. Data helps us also to understand the genetic relationships and ancestral gene flow among the contemporary dog breeds, which are often speculated among the breed enthusiasts.

Lineage purpose differentiation in English Greyhound and Labrador Retriever. Pohjoismki et al.

From a more general perspective, the combined effect of population bottlenecks and selection on genetic differentiation are amazing to see in action. Although widely known, the fact that most dog breeds with their amazing phenotypic variation have emerged mostly during the last 200 years is perhaps still an under appreciated example of evolutionary forces in action. Understanding of the genetic differentiation in dog breeds might provide interesting insight into the evolution of natural populations, such as adaptive radiation of species or speciation from a few founder individuals on remote island habitats. Similarly, the rapid differentiation of dog breed subpopulations, accompanied by the loss of genetic diversity, underscores the impact of habitat loss and fragmentation on the population genetics of endangered species. The dog subpopulations with relatively few breeding individuals emulate closely the situation of many spatially dispersed populations of endangered species. Dogs could also offer practical, controlled models to study the effects of genetic rescue of endangered populations and help to device practices regarding the number of transferred individuals and required genetic differences to achieve the desired goals for the rescue.

Directional breeding is a powerful tool, which humans have applied for millennia to sculpt animals and plants alike. However, with power comes the responsibility to not do harm. Our greatest animal companions deserve us to see them in a broader view.

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What do the dog breeds tell about the makings of our best friends and us? - On Biology - BMC Blogs Network

A new market report by Adroit Market Research on the Preimplantation Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The exploration report comprised with market data derived from primary as well as secondary research techniques. The solicitation of proposals by the governments and publicprivate companies across the world to mitigate the impact of the COVID-19 pandemic is considered to be market forces. The aim is to get premium insights, quality data figures and information in relation to aspects such as market scope, market size, share, and segments including Types of Products and Services, Application / end use industry, SWOT Analysis and by various emerging by geographies.

Get Sample Copy of this Report: https://www.adroitmarketresearch.com/contacts/request-sample/1483

The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Some of the profiled players in Preimplantation Genetic Testing Market

Thermo Fisher Scientific, Inc., Agilent Technologies, Inc., PerkinElmer, Inc., CooperSurgical, Inc., Beijing Genomics Institute (BGI), Abbott Laboratories, Natera, Inc., Genea Limited, Rubicon Genomics, Inc. and Oxford Gene Technology

Read complete report with TOC at: https://www.adroitmarketresearch.com/industry-reports/preimplantation-genetic-testing-market

The report discusses the competitive landscape of the Global Preimplantation Genetic Testing Market. All the existing large, as well as small players which are functioning in the market, covered in the report. The report analyzes the market share and new orders of market share by the company. Information obtained from various companies is added covering their product portfolio and pricing strategy. Further, it covers the business overview and financial overview of each of the companies. An in-depth analysis of all the payers with their company profile, their sale and revenue analysis and competitive landscape in the industry has been delivered in the report.

The Preimplantation Genetic Testing Market has its impact all over the globe. On Global Preimplantation Genetic Testing Industry is segmented on the basis of product type, applications, and regions. It also focusses on market dynamics, Preimplantation Genetic Testing Market growth drivers, developing market segments and the market growth curve is offered based on past, present and future market data. The industry plans, news, and policies are presented at a Global and regional level.

Global Preimplantation Genetic Testing market is segmented based by type, application and region.

Based on Type, the market has been segmented into:

by Test Type (Aneuploidy, Structural Chromosomal Abnormalities, Single Gene Disorders, X-linked Disorders, HLA Typing, Gender Identification) and Technology (Next Generation Sequencing, Polymerase Chain Reaction, Fluorescent In-Situ Hybridization, Comparative Genomic Hybridization, Single Nucleotide Polymorphism)

Implementing Marketing Tactics:1. Numerous marketing strategies implemented by the renowned shareholders with respect to product marketing are presented in the report.2. Information related to the sales channels that companies select is also included in the report.3. Along with the dealers of these products, it also presents a summary of the top customers4. Data related to the Global Preimplantation Genetic Testing Market share of each product application as well as estimated revenue that each application registers for is given in the report.

Customization of the Report:This report can be customized to meet the clients requirements. Please connect with our sales team ([emailprotected]), who will ensure that you get a report that suits your needs. You can also get in touch with our executives on +1 972-362 -8199 to share your research requirements.

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Adroit Market Research is an India-based business analytics and consulting company. Our target audience is a wide range of corporations, manufacturing companies, product/technology development institutions and industry associations that require understanding of a markets size, key trends, participants and future outlook of an industry. We intend to become our clients knowledge partner and provide them with valuable market insights to help create opportunities that increase their revenues. We follow a code Explore, Learn and Transform. At our core, we are curious people who love to identify and understand industry patterns, create an insightful study around our findings and churn out money-making roadmaps.

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Global Preimplantation Genetic Testing Market Share 2020 Industry Size, Types and Application, Regions, Manufacturers and Growth Opportunities by 2025...

Predictive Genetic Testing and Consumer/Wellness Genomics Market: Snapshot

Genetic testing comprises examination of ones DNA. The term DNA refers to the chemical database that is responsible for conveying the instructions for functions that need to be performed by the body. Genetic testing is capable of revealing changes or mutations in the genes of living beings, which might result in any kind of disease or illness in the body.

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Predictive genetic testingrefers to the utilization of genetic testing methods in an asymptomatic individual to make a prediction about risk of contacting particular disease in future. These tests are regarded as representation of emerging class of medical tests, which differ in fundamental ways from the usual diagnostic tests.

The global predictive genetic testing and consumer/wellness genomics marketis likely to gather momentum owing to the benefits offered by predictive genetic testing.

The benefits of predictive genetic testing are

The global predictive genetic testing and consumer/wellness genomics marketis influenced by reducing cost of genetic sequencing and technological advancement in the field of genetics. North America is expected to emerge as a prominent region for the global predictive genetic testing and consumer/wellness genomics market in years to come due to high adoption rates of latest technologies in all fields.

Over centauries human DNA has undergone tremendous alteration due to evolutionary and lifestyle changes. They have led to both, advantages and disadvantages over the years. Some have given the mankind a deserving edge over other creatures while the others have led to disorders and diseases. Predictive genetic testing and consumer/wellness genomics market thrives on the growing demand for understanding the lineage of a certain gene pool to identify disorders that could manifest in the later or early stage of a human life. The surging demand for understanding the family history or studying the nature of certain diseases has given the global market for predictive genetic testing and consumer/wellness genomics market adequate fodder for growth in the past few years.

This new class of medical tests are aimed at reducing the risk of morbidity and mortality amongst consumers. The thorough surveillance and screening of a certain gene pool can allow an individual to avoid conditions that disrupt normal existence through preventive measures. The clinical utility of these tests remains unassessed. Therefore, increasing research and development by pharmaceutical companies to develop new drugs by understanding diseases and disorders is expected to favor market growth.

Unlike conventional diagnostic testing, predictive genetic testing identifies the risk associated with potential conditions. In certain cases it is also capable of stating when the disease may appear and the how severe will it be. Thus, this form of testing is expected to allow consumers to take up wellness measurements well in time to lead a life of normalcy, characterized by good health.

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Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Overview

Predictive genetic testing are used to identify gene mutations pertaining to the disorders that surface at a considerably later stage in life after birth. These tests are particularly beneficial for people from a family with a history of genetic disorder, although they themselves show no symptoms of the disorder at the time of testing. Genetic testing promises to revolutionize the healthcare sector, providing crucial diagnostic details related to diverse verticals such as heart disease, autism, and cancer. As the healthcare sector touches new peaks, the global predictive genetic testing and consumer/wellness genomics market is projected to expand at a healthy growth rate during the forecast period of 2017 to 2025.

This report on the global market for predictive genetic testing and consumer/wellness genomics analyzes all the important factors that may influence the demand in the near future and forecasts the condition of the market until 2025. It has been created using proven research methodologies such as SWOT analysis and Porters five forces. One of the key aspect of the report is the section on company profiles, wherein several leading players have been estimated for their market share and analyzed for their geographical presence, product portfolio, and recent strategic developments such as mergers, acquisitions, and collaborations.

The global predictive genetic testing and consumer/wellness genomics market, on the basis of test type, can be segmented into predictive testing, consumer genomics, and wellness genetics. The segment of predictive testing can be sub-segmented into genetic susceptibility test, predictive diagnostics, and population screening programs, whereas the segment of wellness genetics can be further divided into nutria genetics, skin and metabolism genetics, and others.

By application, the market can be segmented into breast and ovarian cancer screening, cardiovascular screening, diabetic screening and monitoring, colon cancer screening, Parkinsons or Alzheimers disease, urologic screening or prostate cancer screening, orthopedic and musculoskeletal screening, and other cancer screening. Geographically, the report studies the opportunities available in regions such as Asia Pacific, Europe, North America, and the Middle East and Africa.

Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Trends and Opportunities

Increasing number of novel partnership models, rapidly decreasing cost of genetic sequencing, and introduction of fragmented point-solutions across the genomics value chain as well as technological advancements in cloud computing and data integration are some of the key factors driving the market. On the other hand, the absence of well-defined regulatory framework, low adoption rate, and ethical concerns regarding the implementation, are expected to hinder the growth rate during the forecast period. Each of these factors have been analyzed in the report and their respective impacts have been anticipated.

Currently, the segment of predictive genetic cardiovascular screening accounts for the maximum demand, and increased investments in the field is expected to maintain it as most lucrative segment. On the other hand, more than 70 companies are currently engaged in nutrigenomics, which is expected to further expand the market.

Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Regional Outlook

Owing to robust healthcare infrastructure, prevalence of cardiovascular diseases, and high adoptability rate of new technology makes North America the most lucrative region, with most of the demand coming from the country of the U.S. and Canada. Several U.S. companies hold patents, which further extends the outreach of the market in the region of North America.

Companies mentioned in the research report

23andMe, Inc, BGI, Genesis Genetics, Illumina, Inc, Myriad Genetics, Inc, Pathway Genomics, Color Genomics Inc., and ARUP Laboratories are some of the key companies currently operating in global predictive genetic testing and consumer/wellness genomics market. Various forms of strategic partnerships with operating company and smaller vendors with novel ideas helps these leading players maintain their position in the market.

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About TMR Research

TMR Research is a premier provider of customized market research and consulting services to busi-ness entities keen on succeeding in todays supercharged economic climate. Armed with an experi-enced, dedicated, and dynamic team of analysts, we are redefining the way our clients conduct business by providing them with authoritative and trusted research studies in tune with the latest methodologies and market trends.

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Predictive Genetic Testing and Consumer/Wellness Genomics Market to Record Ascending Growth by 2025 - Cole of Duty

Digital Genome Market is expected to exceed USD 50.4 billion by 2025. The rising prevalence of chronic disorders across the globe is leading toward adoption of digitalized genomic solutions.

Some major findings of digital genome market report include:

The demand for digital genome is increasing across the globe due to various benefits such as mounting advances in biotechnology sector and augmented inventive digital genome products

Advancements in field of genomics and development of next generation DNA sequencing techniques have reduced costs and increased the speed of DNA sequencing

Shift in plant and animal sciences from traditional to molecular systematics for classification of organisms and understanding their evolution will propel market growth

Major players operating in digital genome market are Becton, Dickson and Company, F. Hoffmann-La Roche Ltd., and PerkinElmer Inc. Companies are delivering advanced technologies including Preimplantation Genetic Screening to gain competitive edge over the rivals.

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Technological advancements in the field of genomics and biotechnology resulting in rapid DNA sequencing at comparatively low costs would prove to be a high impact rendering factor. Rising incidence of chronic diseases due to unhealthy lifestyle, lack of physical activity and consumption of harmful substances will drive the market growth. The escalating use of personalized medicines for clinical diagnosis would fuel growth of digital genome market. In addition, several government organizations such as the National Institute of Health, European Commission, and Genome Canada are putting efforts to streamline volunteering process in the research genomics-based clinical trials essential for advancement of new tests & treatment of chronic diseases.

Developed countries are implementing genome-based technologies in numerous areas of healthcare, leading to industry progression. The Genome Russia project will serve to be a high impact rendering driver for the Russian digital genome market. However, factors such as high costs of personalized medicines, lack of expertise regarding digital genome in developing economies, data safety issues and imprecise findings are certain factors likely to impede the market growth during the projection period.

The evolution in epigenetic studies have created more demand for ChIP-seq. Sequencing Chip is mainly utilized to understand how phenotypic mechanisms are influenced by transcription factors and other chromatin associated proteins. The applications of next generation sequencing & ChIP provides better understanding of events of gene regulation and also its relation to various genetic & metabolic disorders. The increasing research for epigenetics to treat chronic metabolic disorders will fuel the demand for DNA/RNA sequencing chip. The adoption of advanced sequencing chIP coupled with Computer Aided Insilco Drug Discovery (CADD) will positively influence market for sequencing chips to grow at a high pace over forecast period.

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The agriculture and livestock industry are gaining huge popularity due to high adoption rate of genetic testing technologies. Moreover, dairy industry is getting highly benefitted by genetic testing technologies that will eventually raise the competitive bar in genomic market. Bovine genetic test is done on animals such as beef, cattle and dairy cow. Farming animals that display required traits, such as high yield of milk, faster weight gain, tenderness of meat, efficient nutrient utilization and disease resistance are economically useful for food production, eventually leading to market size expansion. Animals that are free from disease has ability to produce good quality food and utilize nutrients in a better way that will drive digital genome market over the forecast period.

In near future, genomics is expected to transform way of treating infectious and rare disease. Advanced gene editing techniques such as next generation sequencing, bio-python, computer aided drug delivery is essentially used by physicians to tailor precision medicines that considers individual genetic variability. Hospitals are also using DNA sequencing for testing organ for rejection before transplanting. The aforementioned applications of genomics in diagnosis, drug development, transplanting and preventing adverse drug reactions in hospitals will drive progress of digital genomic market.

At present, various firms have developed sequencing and analysis instruments. The companies are carrying out advanced research for more advanced technologies such as chain terminator DNA sequencing and next generation sequencing. The key players are integrating DNA sequencing with bioinformatics that will create high demand for these products. For instance, some of the most advanced sequencing technologies in market are Roche 454 sequencing, Illumina (Solexa) sequencing, Ion torrent: proton/ PGM sequencing & SOLiD (sequencing by Oligonucleotide Ligation and Detection) sequencing. The leading companies such as GE Healthcare, Illumina, Thermo Fisher Scientific and Roche are making large investments to enter emerging markets such as Brazil, India, and Saudi Arabia.

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Digital Genome Market drivers of growth analyzed in a new research report - Cole of Duty

The Preimplantation Genetic Testing market report by Reports and Data provides an extensive overview of the vital elements of the Preimplantation Genetic Testing market and factors such as the drivers, restraints, latest trends, supervisory scenario, competitive landscape, technological advancements, and others. The report proposes a full-fledged solution for all your business needs and helps to understand the overall dynamics of the market. The market report offers an in-depth evaluation of all aspects that are expected to impact the growth of the market in a constructive way.

Market Size USD 347.7 million in 2018, Market Growth CAGR of 10.1%, Market Trends Product launches and research for advanced preimplantation genetic testing

This is the latest report covering the current COVID-19 scenario. The coronavirus pandemic has greatly affected every aspect of the worldwide industry. It has brought along various changes in market conditions. The rapidly changing market scenario and the initial and future assessment of the aftereffects are covered in the research report. The report discusses all the major aspects of the market with expert opinions on the current status along with historical data.

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The geographical regions mapped in the report are:

The market research report sheds light on both macro- and micro-economic factors. The report also highlights the regulatory framework that will play a vital role in shaping the future of the global Preimplantation Genetic Testing market. Additionally, the report studies the prevailing pricing structure, emerging areas of applications, and prominent investment opportunities that exist in the global market. It delivers extensive analysis of how the projected growth factors will be shaping the overall market dynamics in the upcoming years. Moreover, it also provides meaningful and actionable insights on the latest trends that are developing in the current market scenario and which will prove to be helpful for the future of the global Preimplantation Genetic Testing market.

The report on the global Preimplantation Genetic Testing market also includes an in-depth analysis of the competitive landscape. It analyzes key marketing and promotional strategies that are being adopted by key companies in the market. It also takes into account the existing development, historical events, and latest trends to provide the readers with a detailed understanding of the strategies adopted by leading companies. The market report mentions all factors and events impacting the growth of the market, such as mergers, acquisitions, joint ventures, strategic alliances, takeovers, and others. It also studies the overall intensity of the competition prevailing in the global Preimplantation Genetic Testing business.

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Some key players mentioned in the research report are:

Natera, Inc.; CooperSurgical, Inc.; F. Hoffmann-La Roche AG; Illumina, Inc.; IGENOMIX; and others

The global Preimplantation Genetic Testing market can be segmented into:

Test Type (Revenue, USD Million; 20162026)

Type (Revenue, USD Million; 20162026)

Application(Revenue, USD Million; 20162026)

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The Preimplantation Genetic Testing Market report delivers the principle locale, latest economic situations with the item value, benefits, production capacity, demand and supply, market growth rate, and others. Additionally, the report performs SWOT analysis, speculation attainability investigation, and venture return investigation.

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Global Impact of Covid-19 on Preimplantation Genetic Testing Market to Witness Promising Growth Opportunities During 20202027 with Top Leading...

The growth of the market is driven by factors such as, growing awareness about hereditary cancer and favorable reimbursement scenario. However, market growth is likely to slow down due to the gender gap in cancer genetic testing in the region.

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Personalized medicines is a comparatively new idea that allows doctors to select medication based on a patients hereditary profile; it is a developing area in the healthcare sector. The method not only reduces adverse side effects but also manages to produce strong results in a short period. For instance, mutations in BRCA1 and BRCA2 lead to breast cancer. However, identifying the type of variation in the breast cancer patient provides crucial information for the kind of treatment. Hence, personalized medicines allow right treatment at the right time, which reduces the mortality rate. On the back of these advantages, the personalized medicine approach is likely to create many opportunities for the hereditary cancer testing market players.

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North America Hereditary Cancer Testing Market to 2027: Business Market Insights Starts Cheaper, Monthly/Yearly Subscription Plan for Market Research...

Simply stated, cancer develops from an accumulation of harmful gene changes (mutations) in a cell, which makes the cell abnormal. The abnormal cancer cell begins to divide without stopping, and may spread to nearby or distant areas of the body.

An inherited gene mutation is passed down by a parent and is present at birth. This occurs in only 5% to 10% of all cancers, and genetic testing is needed to know for sure if someone was born with an inherited cancer gene mutation. Acquired gene mutations are more common and develop over time as people age. A formal cancer risk assessment for individuals with a personal or family history of cancer can be helpful in developing a plan for cancer prevention and early detection.

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Jennifer Van Horn is an oncology clinical nurse specialist. She joined the cancer program at Cheyenne Regional Medical Center in 2011. She received her graduate training at the University of Northern Colorado, and recently completed a post-masters nurse practitioner program through the University of Colorado.

View original post here:
Van Horn: Myths vs. facts about inherited cancer risk and testing - Wyoming Tribune

A new national study aims to answer that question, and women are being recruited to participate at no cost in a comparison of the effectiveness of the two screening methods.

Its called the WISDOM study Women Informed to Screen Depending On Measures of risk and its sponsors include Blue Cross Blue Shield of North Dakota and Sanford Health.

The study has a goal of recruiting 100,000 women who have not had breast cancer between the ages of 40 and 74.

So far, 27,000 women have enrolled, including 6,000 from Sanford Health in North Dakota, South Dakota and Minnesota.

Study participation through Sanford currently leads among health systems, said Dr. Andrea Kaster, a doctor at the Edith Sanford Breast Center and one of 10 investigators conducting the study.

Mammogram screening recommendations vary, but generally doctors recommend that women between the ages of 40 and 74 get yearly scans.

Thats what Sanford still recommends, Kaster said. The age to stop screening is based on a discussion between the patient and provider, she said, taking risk factors into consideration.

With so many recommendations for breast cancer screening out there, it can be hard for patients and providers to know what the right approach is for them, she said.

Clinical studies like WISDOM help us use the latest in imaging and genetics along with a patients personal history to determine how best to screen women for breast cancer," she added. "Through this study, I hope that we will be able to contribute to developing a more personalized approach to breast cancer screening.

Dr. Greg Glasner, chief medical officer at Blue Cross Blue Shield of North Dakota, said if personalized screening proves effective, it could spare many women from the anxiety caused by false positives.

The results of the study have the potential to impact existing standards of practice on screening and prevention, diagnosis and treatment of breast cancer, he said. Supporting the WISDOM study by encouraging eligible members to participate in the study is an important step in its success.

Blue Cross Blue Shield of North Dakota will cover the cost of services a member may receive through the study, with no cost sharing or impact to the members preventive benefit accumulations.

Similarly, the Sanford Health Plan covers the cost of genetic testing, assessments and other expenses associated with the WISDOM study for its members who are enrolled in the study and are asked to be tested.

Women who are interested in enrolling can go online to learn more by visiting http://www.thewisdomstudy.org or edith.sanfordhealth.org/research/wisdom.

The study will last five years, but partial results will be released before the studys conclusion.

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Is personalized screening more effective than annual mammograms in detecting breast cancer? This study aims to find out - Duluth News Tribune

A new market report by Verified Market Research on the Prenatal and New-born Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

The research study includes the latest updates about the COVID-19 impact on the Prenatal and New-born Genetic Testing sector. The outbreak has broadly influenced the global economic landscape. The report contains a complete breakdown of the current situation in the ever-evolving business sector and estimates the aftereffects of the outbreak on the overall economy.

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The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Leading Prenatal and New-born Genetic Testing manufacturers/companies operating at both regional and global levels:

The report also inspects the financial standing of the leading companies, which includes gross profit, revenue generation, sales volume, sales revenue, manufacturing cost, individual growth rate, and other financial ratios.

The report also focuses on the global industry trends, development patterns of industries, governing factors, growth rate, and competitive analysis of the market, growth opportunities, challenges, investment strategies, and forecasts till 2026. The Prenatal and New-born Genetic Testing Market was estimated at USD XX Million/Billion in 2016 and is estimated to reach USD XX Million/Billion by 2026, expanding at a rate of XX% over the forecast period. To calculate the market size, the report provides a thorough analysis of the market by accumulating, studying, and synthesizing primary and secondary data from multiple sources.

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The market is predicted to witness significant growth over the forecast period, owing to the growing consumer awareness about the benefits of Prenatal and New-born Genetic Testing. The increase in disposable income across the key geographies has also impacted the market positively. Moreover, factors like urbanization, high population growth, and a growing middle-class population with higher disposable income are also forecasted to drive market growth.

According to the research report, one of the key challenges that might hinder the market growth is the presence of counter fit products. The market is witnessing the entry of a surging number of alternative products that use inferior ingredients.

Key factors influencing market growth:

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To summarize, the Prenatal and New-born Genetic Testing market report studies the contemporary market to forecast the growth prospects, challenges, opportunities, risks, threats, and the trends observed in the market that can either propel or curtail the growth rate of the industry. The market factors impacting the global sector also include provincial trade policies, international trade disputes, entry barriers, and other regulatory restrictions.

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Prenatal and New-born Genetic Testing Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Trends, Opportunities and Forecast...

From 7% to nearly 9% of patients with advanced cancer were found to harbor a germline variant with targeted therapeutic actionability in the first study of its kind.

The study involved 11,974patients with various tumor types. All the patients underwent germline genetic testing from 2015 to 2019 at the Memorial Sloan Kettering Cancer Center (MSKCC) in New York City, using the next-generation sequencing panel MSK-IMPACT.

This testing identified 2043 patients (17.1%) with variants in cancer predisposition genes, including 849 patients (7.1%) who had targetable genes by strict criteria and 1003 patients (8.6%) by less strict criteria.

"Of course, these numbers are not static," commented lead author Zsofia K. Stadler, MD, a medical oncologist at MSKCC. "And with the emergence of novel targeted treatments with new FDA indications, the therapeutic actionability of germline variants is likely to increase over time.

"Our study demonstrates the first comprehensive assessment of the clinical utility of germline alterations for therapeutic actionability in a population of patients with advanced cancer," she added.

Stadler presented the study results during a virtual scientific program of the American Society of Clinical Oncology (ASCO) 2020.

Testing for somatic mutations is evolving as the standard of care in many cancer types, and somatic genomic testing is rapidly becoming an integral part of the regimen for patients with advanced disease. Some studies suggest that 9% to 11% of patients harbor actionable genetic alterations, as determined on the basis of tumor profiling.

"The take-home message from this is that now, more than ever before, germline testing is indicated for the selection of cancer treatment," said Erin Wysong Hofstatter, MD, from the Yale School of Medicine, New Haven, Connecticut, in a Highlights of the Day session.

Now, more than ever before, germline testing is indicated for the selection of cancer treatment. Dr Erin Wysong Hofstatter

An emerging indication for germline testing is the selection of treatment in the advanced setting, she noted. "And it is important to know your test. Remember that tumor sequencing is not a substitute for comprehensive germline testing."

For their study, Stadler and colleagues reviewed the medical records of patients with likely pathogenic/pathogenic germline (LP/P) alterations in genes that had known therapeutic targets so as to identify germline-targeted treatment either in a clinical or research setting.

"Since 2015, patients undergoing MSK-IMPACT may also choose to provide additional consent for secondary germline genetic analysis, wherein up to 88 genes known to be associated with cancer predisposition are analyzed," she said. "Likely pathogenic and pathogenic germline alterations identified are disclosed to the patient and treating physician via the Clinical Genetic Service."

A total of 2043 (17.1%) patients who harbored LP/P variants in a cancer predisposition gene were identified. Of these, 11% of patients harbored pathogenic alterations in high or moderate penetrance cancer predisposition genes. When the analysis was limited to genes with targeted therapeutic actionability, or what the authors defined as tier 1 and tier 2 genes, 7.1% of patients harbored a targetable pathogenic germline alteration.

BRCA alterations accounted for half (52%) of the findings, and 20% were associated with Lynch syndrome.

The tier 2 genes, which included PALB2, ATM, RAD51C, and RAD51D, accounted for about a quarter of the findings. Hofstatter noted that, using strict criteria, 7.1% of patients were found to harbor a pathogenic alteration and a targetable gene. Using less stringent criteria, additional tier 3 genes and additional genes associated with DNA homologous recombination repair brought the number up to 8.6%.

For determining therapeutic actionability, the strict criteria were used; 593 patients (4.95%) with recurrent or metastatic disease were identified. For these patients, consideration of a targeted therapy, either as part of standard care or as part of an investigation or research protocol, was important.

Of this group, 44% received therapy targeting the germline alteration. Regarding specific genes, 50% of BRCA1/2 carriers and 58% of Lynch syndrome patients received targeted treatment. With respect to tier 2 genes, 40% of patients with PALB2, 19% with ATM, and 37% with RAD51C or 51D received a PARP inhibitor.

Among patients with a BRCA1/2 mutation who received a PARP inhibitor, 55.1% had breast or ovarian cancer, and 44.8% had other tumor types, including pancreas, prostate, bile duct, gastric cancers. These patients received the drug in a research setting.

For patients with PALB2 alterations who received PARP inhibitors, 53.3% had breast or pancreas cancer, and 46.7% had cancer of the prostate, ovary, or an unknown primary.

The discussant for the paper, Funda Meric-Bernstam, MD, chair of the Department of Investigational Cancer Therapeutics at the University of Texas MD Anderson Cancer Center, Houston, pointed out that most of the BRCA-positive patients had cancers traditionally associated with the mutation. "There were no patients with PTEN mutations treated, and interestingly, no patients with NF1 were treated," she said. "But actionability is evolving, as the MEK inhibitor selumitinib was recently approved for NF1."

Some questions remain unanswered, she noted, such as, "What percentage of patients undergoing tumor-normal testing signed a germline protocol?" and, "Does the population introduce a bias such as younger patients, family history, and so on?"

It is also unknown what percentage of germline alterations were known in comparison with those identified through tumor/normal testing. Also of importance is the fact that in this study, the results of germline testing were delivered in an academic setting, she emphasized. "What if they were delivered elsewhere? What would be the impact of identifying these alterations in an environment with less access to trials?

"But to be fair, it is not easy to seek the germline mutations," Meric-Bernstam continued. "These studies were done under institutional review board protocols, and it is important to note that most profiling is done as standard of care without consenting and soliciting patient preference on the return of germline results."

An infrastructure is needed to return/counsel/offer cascade testing, and "analyses need to be facilitated to ensure that findings can be acted upon in a timely fashion," she added.

The study was supported by MSKCC internal funding. Stadler reports relationships (institutional) with Adverum, Alimera Sciences, Allergan, Biomarin, Fortress Biotech, Genentech/Roche, Novartis, Optos, Regeneron, Regenxbio, and Spark Therapeutics. Meric-Bernstram reports relationships with numerous pharmaceutical companies.

American Society of Clinical Oncology (ASCO) 2020: Abstract 1500, presented May 30, 2020.

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