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Global Genomic Medicine Market Insights, Size Estimation, Research Insights, COVID-19 Impact and Future Trends By 2028 KSU | The Sentinel Newspaper -…

Global Genomic Medicine Market Report Provides Future Development Possibilities By Key Players, Key Drivers, Competitive Analysis, Scope, And Key Challenges Analysis. The Reports Conjointly Elaborate The Expansion Rate Of The Industry Supported The Highest CAGR And Global Analysis. This Report Providing An In Depth And Top To Bottom Analysis By Market Size, Growth Forecast By Applications, Sales, Size, Types And Competitors For The Creating Segment And The Developing Section Among The Global Genomic Medicine Market. Market Expansion Worldwide With Top Players Future Business Scope and Investment Analysis Report

Genomicmedicinemarket is expected to gain market growth in the forecast period of 2020 to 2027. Data Bridge Market Research analyses the market to grow at a CAGR of 9.70% in the above-mentioned forecast period. Increasing scientific research on genomic medicine is expected to create new opportunity for the market.

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Genomic medicine is that part of the science which uses genomic information for the study of our DNA and their interactions with the health. They have the ability get the details about the typical biological information of an individual and use them to offer effective treatment.

Rising government investment in theprecision medicineis expected to drive the market growth. Some of the other factors such as increasing application area of genome, increasing number of genomics project and increasing usage for advanced sequencing in cancer pharmacogenomics & rare disorder diagnosis which will further accelerate the genomic medicine market in the forecast period of 2020 to 2027.

Dearth of awareness among healthcare providers, volatility in the regulation scenario and lack of adoption of genomic medicine will hamper the market growth.

Competitive Landscape and Genomic Medicine Market Share Analysis

Genomic medicine market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies focus related to genomic medicine market.

The major players covered in the genomic medicine market report are BioMed Central Ltd, Cleveland Clinic., Genome Medical, Inc., Aevi Genomic Medicine, Inc., DEEP GENOMICS, Congenica Ltd., Editas Medicine, among other domestic and global players. Market share data is available for Global, North America, Europe, Asia-Pacific (APAC), Middle East and Africa (MEA) and South America separately. DBMR analysts understand competitive strengths and provide competitive analysis for each competitor separately.

Global Genomic Medicine Market Scope and Market Size

Genomic medicine market is segmented of the basis of application and end user. The growth amongst these segments will help you analyse meagre growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.

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Genomic Medicine Market Country Level Analysis

Genomic medicine market is analysed and market size insights and trends are provided by application and end user as referenced above.

The countries covered in the genomic medicine market report are U.S., Canada and Mexico in North America, Germany, France, U.K., Netherlands, Switzerland, Belgium, Russia, Italy, Spain, Turkey, Rest of Europe in Europe, China, Japan, India, South Korea, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific (APAC) in the Asia-Pacific (APAC), Saudi Arabia, U.A.E, South Africa, Egypt, Israel, Rest of Middle East and Africa (MEA) as a part of Middle East and Africa (MEA), Brazil, Argentina and Rest of South America as part of South America.

North America dominates the genomic medicine market in the forecast period of 2020 to 2027. This is due to increasing R&D in the genomic medicine and availability of various universities offering education programs on genomic medicine.

The country section of the genomic medicine market report also provides individual market impacting factors and changes in regulation in the market domestically that impacts the current and future trends of the market. Data points such as consumption volumes, production sites and volumes, import export analysis, price trend analysis, cost of raw materials, down-stream and upstream value chain analysis are some of the major pointers used to forecast the market scenario for individual countries. Also, presence and availability of global brands and their challenges faced due to large or scarce competition from local and domestic brands, impact of domestic tariffs and trade routes are considered while providing forecast analysis of the country data.

Healthcare Infrastructure growth Installed base and New Technology Penetration

Genomic medicine market also provides you with detailed market analysis for every country growth in healthcare expenditure for capital equipments, installed base of different kind of products for genomic medicine market, impact of technology using life line curves and changes in healthcare regulatory scenarios and their impact on the genomic medicine market. The data is available for historic period 2010 to 2018.

Customization Available: Global Genomic Medicine Market

Data Bridge Market Research is a leader in advanced formative research. We take pride in servicing our existing and new customers with data and analysis that match and suits their goal. The report can be customised to include price trend analysis of target brands understanding the market for additional countries (ask for the list of countries), clinical trial results data, literature review, refurbished market and product base analysis. Market analysis of target competitors can be analysed from technology-based analysis to market portfolio strategies. We can add as many competitors that you require data about in the format and data style you are looking for. Our team of analysts can also provide you data in crude raw excel files pivot tables (Factbook) or can assist you in creating presentations from the data sets available in the report.

About Data Bridge Market Research:

An absolute way to forecast what future holds is to comprehend the trend today!Data Bridge set forth itself as an unconventional and neoteric Market research and consulting firm with unparalleled level of resilience and integrated approaches. We are determined to unearth the best market opportunities and foster efficient information for your business to thrive in the market. Data Bridge endeavors to provide appropriate solutions to the complex business challenges and initiates an effortless decision-making process.

Contact:

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UK: +44 208 089 1725

Hong Kong: +852 8192 7475

Email @ Corporatesales@databridgemarketresearch.com

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Global Genetic Testing Market Insights, Size Estimation, Research Insights, COVID-19 Impact and Future Trends By 2028 KSU | The Sentinel Newspaper -…

Global Genetic Testing Market Report Provides Future Development Possibilities By Key Players, Key Drivers, Competitive Analysis, Scope, And Key Challenges Analysis. The Reports Conjointly Elaborate The Expansion Rate Of The Industry Supported The Highest CAGR And Global Analysis. This Report Providing An In Depth And Top To Bottom Analysis By Market Size, Growth Forecast By Applications, Sales, Size, Types And Competitors For The Creating Segment And The Developing Section Among The Global Genetic Testing Market. Market Expansion Worldwide With Top Players Future Business Scope and Investment Analysis Report

Global Genetic Testing Market, By Type (Predictive & Presymptomatic Testing, Carrier Testing, Prenatal & Newborn Testing, Diagnostic Testing, Pharmacogenomic Testing, Others), Technology (Cytogenetic Testing, Biochemical Testing, and Molecular Testing), Application (Cancer Diagnosis, Genetic Disease Diagnosis, Cardiovascular Disease Diagnosis, Others), Disease (Alzheimers Disease, Cancer, Cystic Fibrosis, Sickle Cell Anemia, Duchenne Muscular Dystrophy, Thalassemia, Huntingtons Disease, Rare Diseases, Other Diseases), Product (Equipment, Consumables), Country (U.S., Canada, Mexico, Germany, Italy, U.K., France, Spain, Netherlands, Belgium, Switzerland, Turkey, Russia, Rest of Europe, Japan, China, India, South Korea, Australia, Singapore, Malaysia, Thailand, Indonesia, Philippines, Rest of Asia- Pacific, Brazil, Argentina, Rest of South America, South Africa, Saudi Arabia, UAE, Egypt, Israel, Rest of Middle East & Africa) Industry Trends and Forecast to 2028

Genetic testing market is expected to gain market growth in the forecast period of 2021 to 2028. Data Bridge Market Research analyses the market to reach at an estimated value of 585.81 billion and grow at a CAGR of 11.85% in the above-mentioned forecast period. Increase in incidences of genetic disorders and cancer drives the genetic testing market.

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The major players covered in the genetic testing market report are 23andMe, Inc., Abbott., Ambry Genetics., BGI, Biocartis, BIO-HELIX, bioMrieux SA, Blueprint Genetics Oy, Cepheid., deCODE genetics, GeneDx, Inc., Exact Sciences Corp, HTG Molecular Diagnostics, Genomictree., Illumina, Inc, Invitae Corporation, Laboratory Corporation of America Holdings, Luminex Corporation., ICON plc, Myriad Genetics, Inc, Natera, Inc., Pacific Biosciences of California, Inc, Pathway Genomics, QIAGEN, Quest Diagnostics Incorporated, F. Hoffmann-La Roche Ltd and Siemens Healthcare Private Limited among other domestic and global players.

Competitive Landscape and Genetic Testing Market Share Analysis

Genetic testing market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies focus related to genetic testing market.

Genetic tests are the type of tests which are defined as medical devices available in the form of kits and panels that are used for testing genetic diseases in humans. The testing is generally performed by collecting samples ofbloodfrom patients and the samples are then run on laboratory machines using test kits. There are numerous types of tests which are used in testing of genetic disorders which includes, predictive and presymptomatic testing, carrier testing, prenatal and newborn testing, diagnostic testing, pharmacogenomic testing among others.

Rise in awareness and acceptance of personalized medicines is the vital factor escalating the market growth, also rising advancements in genetic testing techniques, rising demand for direct-to-consumer genetic testing, rising consumer interest in personalized medicines in Europe, rising application of genetic testing in oncology and genetic diseases in North America and rising physician adoption of genetic tests into clinical care are the major factors among others driving the genetic testing market. Moreover, rising untapped emerging markets in developing countries and rising research and development activities in the machinery used inhealthcarewill further create new opportunities for genetic testing market in the forecasted period of 2021-2028.

However, rising standardization concerns of genetic testing-based diagnostics and rising stringent regulatory requirements for product approvals are the major factors among others which will obstruct the market growth, and will further challenge the growth ofgenetic testing marketin the forecast period mentioned above.

This genetic testing market report provides details of new recent developments, trade regulations, import export analysis, production analysis, value chain optimization, market share, impact of domestic and localised market players, analyses opportunities in terms of emerging revenue pockets, changes in market regulations, strategic market growth analysis, market size, category market growths, application niches and dominance, product approvals, product launches, geographic expansions, technological innovations in the market. To gain more info on genetic testing market contact Data Bridge Market Research for anAnalyst Brief,our team will help you take an informed market decision to achieve market growth.

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Genetic Testing Market Scope and Market Size

Genetic testing market is segmented on the basis of type, technology, application, disease and product. The growth amongst these segments will help you analyse meagre growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.

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Global Genetic Testing MarketCountry Level Analysis

Genetic testing market is analysed and market size insights and trends are provided by country, type, technology, application, disease and product as referenced above.

The countries covered in the genetic testing market report are U.S., Canada and Mexico in North America, Germany, France, U.K., Netherlands, Switzerland, Belgium, Russia, Italy, Spain, Turkey, Rest of Europe in Europe, China, Japan, India, South Korea, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific (APAC) in the Asia-Pacific (APAC), Saudi Arabia, U.A.E, South Africa, Egypt, Israel, Rest of Middle East and Africa (MEA) as a part of Middle East and Africa (MEA), Brazil, Argentina and Rest of South America as part of South America.

North America dominates the genetic testing market due to rising demand for direct-to-consumer genetic testing and rising consumer interest in personalized medicines. Asia-Pacific is the expected region in terms of growth in genetic testing market due to rise in affordability, increasing surge in healthcare expenditure, and increase in awareness toward early screening of genetic disorders in this region.

The country section of the genetic testing market report also provides individual market impacting factors and changes in regulation in the market domestically that impacts the current and future trends of the market. Data points such as consumption volumes, production sites and volumes, import export analysis, price trend analysis, cost of raw materials, down-stream and upstream value chain analysis are some of the major pointers used to forecast the market scenario for individual countries. Also, presence and availability of global brands and their challenges faced due to large or scarce competition from local and domestic brands, impact of domestic tariffs and trade routes are considered while providing forecast analysis of the country data.

Healthcare Infrastructure growth Installed base and New Technology Penetration

Genetic testing market also provides you with detailed market analysis for every country growth in healthcare expenditure for capital equipments, installed base of different kind of products for genetic testing market, impact of technology using life line curves and changes in healthcare regulatory scenarios and their impact on the genetic testing market. The data is available for historic period 2010 to 2019.

About Data Bridge Market Research:

An absolute way to forecast what future holds is to comprehend the trend today!Data Bridge set forth itself as an unconventional and neoteric Market research and consulting firm with unparalleled level of resilience and integrated approaches. We are determined to unearth the best market opportunities and foster efficient information for your business to thrive in the market. Data Bridge endeavors to provide appropriate solutions to the complex business challenges and initiates an effortless decision-making process.

Contact:

Data Bridge Market Research

US: +1 888 387 2818

UK: +44 208 089 1725

Hong Kong: +852 8192 7475

Email @Corporatesales@databridgemarketresearch.com

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Global Genetic Testing Market Insights, Size Estimation, Research Insights, COVID-19 Impact and Future Trends By 2028 KSU | The Sentinel Newspaper -...

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I’m 28 and I Don’t Know My Family HistoryHere’s How That Affects My Health – msnNOW

Photo: Getty Images / Johner Images family medical history

If there's one thing I've learned over the years as a health and wellness writer, it's that information is power. The flip side of that is the fact that not having key information available to you can be deeply disempowering. Like millions of other Americans, I'm adopted, which means I haven't been able to find out a lot about important health information that most people have readily available to them: family health history and genetic health information.

Family health history is essentially just that: knowing the health histories of members of your biological family. This kind of information can help doctors pinpoint whether you are at risk for certain health conditions that can run in families or be determined by genetics. "Family history is a strong clue for chronic disease risks you may face, such as heart disease, stroke, cancer, and diabetes," says Latha Palaniappan, MD, the scientific director of Genomics and Pharmacogenomics in Primary Care at Stanford Medicine. The Centers for Disease Control and Prevention (CDC) CDC recommends documenting as much as you can about your family's health history in order to share with your doctor, and ask for additional testing if you're concerned about your risk for a specific disease.

While I've always valued a healthy lifestyleI try to eat well, sleep enough, exercise, and manage stress as much as possibleI've wondered recently if my inclination towards healthy living has been driven in part by fear, specifically the fear of what I don't know about my health and genetics. Since I don't know what could be in my genes, at least I do have some control over my lifestyle now, and that counts for a lot, right?

Thankfully, Dr. Palaniappan assures me that family history is not the end-all, be-all of what will happen with your health."Family history is probabilistic, not predictive," she says. (Basically, it can educate you about your odds of experiencing a certain health outcome, but not predict it outright.) But if you do have access to that information, use it, since "family history provides important clues about your health risks," says Dr. Palaniappan.

So if you don't have access to this information, should you be worried? And what else can you do, besides actually going out to try to find your biological relatives' information (which is a hugely personal choice, and not possible for some)? There are some other things you can do to help you gather more information about your health and feel more empowered about your future.

Honestly, I didn't think about my family health history too much until I started approaching 30. As the mystery surrounding family health information came up a bit more for me, I talked to my mom and my sister about my concerns surrounding what we don't know. When my mom got me a 23andMe DNA test (which start at $199 for the Health + Ancestry test) for Christmas one year, I was excitedand kind of anxiousto have the chance to take a deeper look into my health information.

23andMe is just one example of a direct-to-consumer (DTC) DNA test that can give you some more information about your health. According to the company's website, the health reports available with the test include genetic information that can clue you in to your genetic risk for conditions like type 2 diabetes, select variants of BRCA1/BRCA2 (the gene associated with breast, ovarian, and pancreatic cancer), celiac disease, uterine fibroids, and more. The brand's test can tell you about your carrier status (meaning if you carry genes linked to an inherited disease that could affect your children) for some diseases like cystic fibrosis and sickle cell anemia.

Gallery: Sure Signs You've Already Had COVID, Says Dr. Fauci in New Report (ETNT Health)

However, these DTC tests don't often come with specific consultation to walk you through what's present in your genome and how that translates into actual risk. That's why it's important to work with a genetics expert or genetic counselor if you can, says Robert C. Green MD, a medical geneticist who leads the Preventative Genomics Clinic at the Harvard-affiliated Brigham and Women's Hospital, and is the director of the Genomes2People Research Program."You [can] have a geneticist or genetic counselor who basically talks to you about what [the test results] mean and what should you do about it. What should you worry about and what should you not worry about," says Dr. Green. For example, if you tested positive for the gene for a certain hereditary cancer, a genetic counselor can help you with the next steps, like if you should seek more testing or work with a specialist.

Dr. Green adds that DTC tests aren't the most comprehensive testing option. That's because most of them use what's called chip-based DNA technology, which essentially scan your genome for known common mutations or markers along your genome, he says. "[This technology] can be very good for ancestry for [finding relatives] and for certain specific markers, such as the Ashkenazi Jewish BRCA1 mutation that 23andMe looks for. It does not look at every letter in your genes, and it's not typically set up to find rare or novel mutations that can affect your health." (They're not always super accurate, eithera 2019 study found that these chips have a very high false-positive rate for rare genetic mutations.) "For health reasons sequencingwhich looks at every letter in a segment of your genome or across the whole genomeis more expensive, but much, much more comprehensive," he says.

DNA testing is definitely not cheap (it can run anywhere from $200 up to $2,000 for the more in-depth testing, and isn't always covered by insurance) and it's certainly not the only way to find out more information about your health.

If you don't know much about your family health history, Dr. Palaniappan encourages paying attention to key health markers including blood pressure, cholesterol, glucose, and heart rate, and getting those checked regularly. "These measurable risk factors can be effectively treated to reduce your risk of heart disease, stroke and diabetes," says Dr. Palaniappan. "Everyone can reduce the risk of disease by eating a healthy diet, getting enough exercise, and not smoking. Cancer screening tests such as mammograms and colorectal cancer screening can detect precancer and treatable cancers early," she says.

While getting the DNA test felt like a great first step to knowing more about my health, it's also good to know that the everyday things that I sometimes don't even think about (like walking my dog) might have a bigger impact on my health than I thought before."What you do each and every daywhat you eat, how much you exercise, and your other health behaviors, can ultimately affect your risk of developing disease," says Dr. Palaniappan. If anything, I've learned that not knowing your family health history doesn't have to be a huge blank spot, but if I ever do want to know more, there are optionswhich is empowering for sure.

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Global Companion Diagnostic Markets Report 2021: A Steep Growth Curve Interrupted by COVID-19 – Forecast to 2025 – ResearchAndMarkets.com – Galveston…

DUBLIN--(BUSINESS WIRE)--Feb 12, 2021--

The "Companion Diagnostic Markets - the Future of Diagnostics, by Funding Source and Application with Customized Forecasting/Analysis, COVID-19 Updates, and Executive and Consultant Guides 2021-2025" report has been added to ResearchAndMarkets.com's offering.

Will Personalized Companion Diagnostics become the norm for diagnostics?

Companion Diagnostics are poised to revolutionize the diagnostics industry. The market is finally moving out of the lab and into the clinic. Oncology, especially immune-oncology is leading the way. And the FDA is holding the door open for this diagnostic technology of the future. But COVID-19 is impacting healthcare treatment everywhere and lowering demand for specialized cancer testing. Find out the latest outlook for this important market.

Learn all about how diagnostic players are jockeying for position with their pharmaceutical counterparts and creating new and significant business opportunities. And some players are already taking the lead. It is a dynamic market situation with enormous opportunity. Diagnostic companies are trying to back the right horse. The science is racing forward. And the cost of molecular diagnostics continues to fall.

Key Topics Covered:

Companion Diagnostic Market - Strategic Situation Analysis

1. Introduction and Market Definition

1.1 What are Companion Diagnostics?

1.2 The Personalized Medicine Revolution

1.3 Market Definition

1.4 Methodology

1.5 A Spending Perspective on Clinical Laboratory Testing

2. Market Overview

2.1 Players in a Dynamic Market

2.1.1 Academic Research Lab

2.1.2 Diagnostic Test Developer

2.1.3 Instrumentation Supplier

2.1.4 Distributor and Reagent Supplier

2.1.5 Independent Testing Lab

2.1.6 Public National/regional lab

2.1.7 Hospital lab

2.1.8 Physician Office Labs

2.1.9 Audit Body

2.1.10 Certification Body

2.2 Personalized Medicine and Companion Diagnostics

2.2.1 Basics

2.2.2 Method

2.2.3 Disease risk assessment

2.2.4 Applications

2.2.5 Diagnosis and intervention

2.2.5.1 Companion Diagnostics

2.2.6 Drug development and usage

2.2.7 Respiratory proteomics

2.2.8 Cancer genomics

2.2.9 Population screening

2.2.10 Challenges

2.2.11 Regulatory oversight

2.2.12 Intellectual property rights

2.2.13 Reimbursement policies

2.2.14 Patient privacy and confidentiality

2.3 Chromosomes, Genes and Epigenetics

2.3.1 Chromosomes

2.3.2 Genes

2.3.3 Epigenetics

2.4 Cancer Genes

2.4.1 Germline vs Somatic

2.4.2 Changing Clinical Role

2.5 Structure of Industry Plays a Part

2.5.1 New Pharmaceutical Funding Market

2.5.2 Economies of Scale

2.5.2.1 Hospital vs. Central Lab

2.5.3 Physician Office Labs

2.5.4 Physicians and POCT

3. Market Trends

3.1 Factors Driving Growth

3.1.1 Level of Care

3.1.2 Immuno-oncology

3.1.3 Liability

3.1.4 Aging Population

3.2 Factors Limiting Growth

3.2.1 State of knowledge

3.2.2 Genetic Blizzard.

3.2.3 Protocol Resistance

3.2.4 Regulation and coverage

3.3 Instrumentation and Automation

3.3.1 Instruments Key to Market Share

3.3.2 Bioinformatics Plays a Role

3.4 Diagnostic Technology Development

3.4.1 Next Generation Sequencing Fuels a Revolution.

3.4.2 Single Cell Genomics Changes the Picture

3.4.3 Pharmacogenomics Blurs Diagnosis and Treatment

3.4.4 CGES Testing, A Brave New World

3.4.5 Biochips/Giant magneto resistance based assay

4. Companion Diagnostics Recent Developments

4.1 Recent Developments - Importance and How to Use This Section

4.1.1 Importance of These Developments

4.1.2 How to Use This Section

5. Profiles of Key Players

6. The Global Market for Companion Diagnostics

6.1 Global Market Overview by Country

6.2 Global Market by Application - Overview

6.3 Global Market Funding Source - Overview

7. Global Companion Diagnostic Markets - By Application

7.1 Oncology

7.2 Neurology

7.3 Cardiology

7.4 Other Application

8. Global Companion Diagnostic Markets - Funding Source

8.1 Global Market Pharmaceutical

8.2 Global Market Venture

8.3 Global Market Clinical

8.4 Global Market Other Funding

For more information about this report visit https://www.researchandmarkets.com/r/f07ek

View source version on businesswire.com:https://www.businesswire.com/news/home/20210212005208/en/

CONTACT: ResearchAndMarkets.com

Laura Wood, Senior Press Manager

press@researchandmarkets.com

For E.S.T Office Hours Call 1-917-300-0470

For U.S./CAN Toll Free Call 1-800-526-8630

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Outlook on the Pharmacogenomics Global Market to 2030 – Trend Forecasts and Growth Opportunities – GlobeNewswire

Dublin, Feb. 10, 2021 (GLOBE NEWSWIRE) -- The "Global Pharmacogenomics Market 2020-2030 by Service (Genotyping, SNP, Diagnostics), Technology (PCR, Microarray, Sequencing, Electrophoresis, MS), Application, End User, and Region: Trend Forecast and Growth Opportunity" report has been added to ResearchAndMarkets.com's offering.

The global pharmacogenomics market will reach $12.83 billion by 2030, growing by 8.1% annually over 2020-2030 driven by increase in adoption of personalized medicine and surge in usage of pharmacogenomics for drug discovery and development amid COVID-19 pandemic.

Highlighted with 88 tables and 83 figures, this 181-page report "Global Pharmacogenomics Market 2020-2030 by Service (Genotyping, SNP, Diagnostics), Technology (PCR, Microarray, Sequencing, Electrophoresis, MS), Application, End User, and Region: Trend Forecast and Growth Opportunity" is based on a comprehensive research of the entire global pharmacogenomics market and all its sub-segments through extensively detailed classifications. Profound analysis and assessment are generated from premium primary and secondary information sources with inputs derived from industry professionals across the value chain. The report is based on studies on 2015-2019 and provides forecast from 2020 till 2030 with 2019 as the base year.

In-depth qualitative analyses include identification and investigation of the following aspects:

The trend and outlook of global market is forecast in optimistic, balanced, and conservative view by taking into account of COVID-19. The balanced (most likely) projection is used to quantify global pharmacogenomics market in every aspect of the classification from perspectives of Service, Technology, Application, End User, and Region.

Based on Service, the global market is segmented into the following sub-markets with annual revenue for 2019-2030 included in each section.

Based on Technology, the global market is segmented into the following sub-markets with annual revenue for 2019-2030 included in each section.

Based on Application, the global market is segmented into the following sub-markets with annual revenue for 2019-2030 included in each section.

Based on End User, the global market is segmented into the following sub-markets with annual revenue for 2019-2030 included in each section.

Geographically, the following regions together with the listed national/local markets are fully investigated:

For each aforementioned region and country, detailed analysis and data for annual revenue are available for 2019-2030. The breakdown of all regional markets by country and split of key national markets by Service, Technology, and Application over the forecast years are also included.

The report also covers current competitive scenario and the predicted trend; and profiles key vendors including market leaders and important emerging players.

Specifically, potential risks associated with investing in global pharmacogenomics market are assayed quantitatively and qualitatively through a Risk Assessment System. According to the risk analysis and evaluation, Critical Success Factors (CSFs) are generated as a guidance to help investors & stockholders identify emerging opportunities, manage and minimize the risks, develop appropriate business models, and make wise strategies and decisions.

Key Players (this may not be a complete list and extra companies can be added upon request):

Key Topics Covered:

1 Introduction1.1 Industry Definition and Research Scope 1.1.1 Industry Definition 1.1.2 Research Scope 1.2 Research Methodology 1.2.1 Overview of Market Research Methodology 1.2.2 Market Assumption 1.2.3 Secondary Data 1.2.4 Primary Data 1.2.5 Data Filtration and Model Design 1.2.6 Market Size/Share Estimation 1.2.7 Research Limitations 1.3 Executive Summary

2 Market Overview and Dynamics2.1 Market Size and Forecast 2.1.1 Impact of COVID-19 on the Market 2.2 Major Growth Drivers 2.3 Market Restraints and Challenges 2.4 Emerging Opportunities and Market Trends 2.5 Porter's Five Forces Analysis

3 Segmentation of Global Market by Service3.1 Market Overview by Service 3.2 Genotyping 3.3 SNP Identification 3.4 Diagnostics 3.5 Other Services

4 Segmentation of Global Market by Technology4.1 Market Overview by Technology 4.2 Polymerase Chain Reaction (PCR) 4.3 Microarray 4.4 Sequencing 4.5 Electrophoresis 4.6 Mass Spectrometry 4.7 Other Technologies

5 Segmentation of Global Market by Application5.1 Market Overview by Application 5.2 Oncology 5.3 Infectious Diseases 5.4 Neurology/Psychiatry 5.5 Cardiovascular 5.6 Pain Management 5.7 Other Applications

6 Segmentation of Global Market by End User6.1 Market Overview by End User 6.2 Hospitals and Clinics 6.3 Pharmaceutical Companies 6.4 Research Institutes

7 Segmentation of Global Market by Region7.1 Geographic Market Overview 2019-2030 7.2 North America Market 2019-2030 by Country 7.2.1 Overview of North America Market 7.2.2 U.S. 7.2.3 Canada 7.2.4 Mexico 7.3 European Market 2019-2030 by Country 7.3.1 Overview of European Market 7.3.2 Germany 7.3.3 UK 7.3.4 France 7.3.5 Spain 7.3.6 Italy 7.3.7 Russia 7.3.8 Rest of European Market 7.4 Asia-Pacific Market 2019-2030 by Country 7.4.1 Overview of Asia-Pacific Market 7.4.2 Japan 7.4.3 China 7.4.4 Australia 7.4.5 India 7.4.6 South Korea 7.4.7 Rest of APAC Region 7.5 South America Market 2019-2030 by Country 7.5.1 Argentina 7.5.2 Brazil 7.5.3 Chile 7.5.4 Rest of South America Market 7.6 MEA Market 2019-2030 by Country 7.6.1 UAE 7.6.2 Saudi Arabia 7.6.3 South Africa 7.6.4 Other National Markets

8 Competitive Landscape8.1 Overview of Key Vendors 8.2 New Product Launch, Partnership, Investment, and M&A 8.3 Company Profiles

9 Investing in Global Market: Risk Assessment and Management9.1 Risk Evaluation of Global Market 9.2 Critical Success Factors (CSFs)

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[Full text] A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03 | TACG – Dove Medical Press

Introduction

Allopurinol is a common hyperuricemia drug and one of the top inducers of severe cutaneous drug reactions (SCARs), especially in Asian patients.1,2 One of the most well-defined risk factors for allopurinol-induced SCARs is the presence of polymorphic human leukocyte antigen (HLA) alleles such as the HLA-B*58:01 allele,36 and to a lesser extent, the HLA-C*03:02 allele.7,8 The HLA-C*03:02 allele was found at 94% and 92%, respectively, of Han Chinese and Korean patients with allopurinol-induced SCARs. This allele was significantly associated with allopurinol-induced SCARs (OR = 97.7, p=1.4x109 in Han Chinese patients,7 OR = 82.1, p = 9.39x1011 in Korean patients).8 These studies implicated that the HLA-C*03:02 allele might be another pharmacogenomic marker together with the HLA-B*58:01 allele in allopurinol personalized treatment. Notably, the frequencies of the HLA-C*03:02 allele in several Asian populations including Vietnamese people are as high as that of the HLA-B*58:01 allele.9

A number of HLA-B*58:01 allele-specific detection methods have been commercialized to identify the patients at risk, change the prescription and therefore, minimize the SCARs risk. However, there is no protocol for specific detection of the HLA-C*03:02 allele. HLA-C*03:02 genotyping methods for research purposes include saturated tiling capture sequencing,10 next-generation sequencing,11 whole-genome sequencing,12 multiplex sequencing-based typing (SBT),13,14 sequence-specific oligonucleotides (SSO),9 and multiplex real-time PCR15 which uses series of primer sets for analysis of multiple HLA loci. All of those methods are very costly and would be difficult to be applied in clinical settings for allopurinol personalized medicine. There is a need for a simple and specific HLA-C*03:02 detection method for allopurinol personalized therapy, in order to avoid SCAR risk.

In this study, we established, for the first time, a simple allele-specific (AS) PCR method to detect HLA-C*03:02 allele carriers in Vietnamese Kinh people and identify their zygosities. This protocol was applied to determine the frequency of the HLA-C*03:02 allele in 810 unrelated Vietnamese Kinh people.

For protocol optimization, 10 DNA samples of known HLA-C genotype were provided by the Division of Pharmacogenomics and Personalized Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Thailand. The HLA genotypes of those samples were determined using the SSO method.16

For protocol validation, 100 DNA samples were prepared from the whole blood of unrelated Vietnamese Kinh people, including allopurinol-induced SCAR patients (48) and healthy volunteers (52).

For the HLA-C*03:02 allele frequency identification, 810 DNA samples were prepared from the whole blood of unrelated Vietnamese Kinh people evenly distributed in the North, the Centre and the South of Vietnam.

The study complied with the Declaration of Helsinki and was approved by the Ethics Committee of the Vietnam National Institute of Hygiene and Epidemiology (IRB-VN01057-6/2018). All of the participants provided their informed written consents.

Whole blood was collected into EDTA anticoagulant tubes and stored at 20C until DNA extraction. Genomic DNA was isolated using the E.Z.N.A. Tissue DNA Kit (Omega Bio-tek, Atlanta, USA). The isolated DNA quantity and quality were assessed using Nanodrop 2000 (Thermo Fisher, Waltham, USA). The samples at the concentration of 35250 ng/L and the A260/280 of 1.651.95 were qualified for further experiments.

The PCR protocol consisted of two steps (Figure 1). The PCR primers were designed based on the alignment of 18 HLA-C alleles in the Vietnamese population reported by Hoa et al.9 The sequences of the 18 alleles were obtained from the IPD-IMGT/HLA database.17

Figure 1 Strategy for detecting and distinguishing homozygous/heterozygous genotypes of the HLA-C*03:02 allele. (A) PCR procedures: Step 1. The primer set HLACB1F/HLACB1R specifically amplified the exon 23 sequence of the HLA-C gene. Step 2. The 912 bp PCR product from step 1 was then used as a template for the step 2 PCR reactions, which used three primer sets. (B) Different patterns can be obtained with the three primer sets in the second PCR step according to the HLA-C*03:02 zygosity. (*): allele number.

In step 1, the primer set (HLACB1F/HLACB1R) was used to amplify specifically the exon 23 of the HLA-C locus. The first PCR was performed in a reaction mixture of 20 L containing 40 ng of genomic DNA, 0.5 pM of each primer (Integrated DNA Technologies, Coralville, USA) and 10 L of GoTaq Green Master Mix 2x (Promega Corporation, Madison, USA). The PCR conditions for the first step were 95C for 3 minutes, followed by 28 cycles of 95C for 30 seconds, and 65C for 30 seconds, 72C for 60 seconds; and finally 72C for 7 minutes. The first step PCR products were visualized by ethidium bromide under UV with 1% agarose gel electrophoresis. 1 L of the first PCR product was diluted 100-fold with distilled sterilized water and used as a template for step 2 PCR.

After the amplification of the exon 23 of the HLA-C locus, the HLA-C*03 alleles were amplified specifically in step 2. In step 2, the protocol can be flexibly used for two different purposes determination of zygosity and screening the allele HLA-C*03:02. For the differentiation of homozygous and heterozygous genotypes of the HLA-C*03:02 alleles, three PCR reactions were performed with three primer sets. Each PCR reaction mixture of 20 L contained 1 L of the step 1 PCR diluted product, 0.5 pM of each primer (Integrated DNA Technologies, Coralville, USA) and 10 L of GoTaq Green Master Mix 2x (Promega Corporation, Madison, USA). For the purpose of HLA-C*03:02 screening only, one PCR reaction with the primer set (HLAC0302F/HLAC3CR) was needed. Touchdown PCR cycles were used in the second PCR step to increase specificity: 95C for 3 minutes, followed by 5 cycles of 95C for 30 seconds, and 70C for 30 seconds, 72C for 30 seconds; 5 cycles of 95C for 30 seconds, 67C for 30 seconds, 72C for 30 seconds, 10 cycles of 95C for 30 seconds, 65C for 30 seconds, 72C for 30 seconds, 20 cycles of 95C for 30 seconds, 58C for 30 seconds, 72C for 30 seconds, and finally 72C for 7 minutes. The PCR products were visualized by ethidium bromide under UV with 1% agarose gel electrophoresis.

DNA sequences were determined by the PCR-SBT method using the BigDyeTM Terminator v3.1 Cycle Sequencing Kit (ThermoFisher Scientific, Waltham, USA) and an ABITM 3500 analyzer (Applied Biosystems, Massachusetts, USA). The primer sets and sequencing procedures have been previously described.14

The sensitivity and specificity of the AS-PCR protocol were determined using MedCalc v19.2.3 (MedCalc Software, Ostend, Belgium). Cohens Kappa coefficient for the comparison between the in-house protocol and the PCR-SBT method as well as the allele frequency was determined using SPSS 20 (Chicago, IL, USA). Raw data from direct sequencing were analyzed using Bioedit 7.0.5.3 (Informer Technologies, Inc).

The strategy for the HLA-C*03:02 allele detection is described in Figure 1. The first PCR step with the primer set HLACB1F/HLACB1R was performed to selectively amplify the exon 23 which is the most polymorphic region containing most of the SNPs of the HLA-C locus. Three primer sets were used in the second PCR to differentiate the HLA-C*03:02 allele from the other known HLA-C alleles in the Vietnamese population, especially the two highly homologous alleles HLA-C*03:03 and HLA-C*03:049. Results of the three parallel PCR reactions enabled the conclusion of either homozygous or heterozygous genotypes of the HLA-C*03:02 allele. Alternatively, only one PCR reaction with the primer set HLAC0302F/HLAC3CR is needed for the detection of HLA-C*03:02 carriers. The sequences of the primer sets designed for these purposes are shown in Table 1. Their binding sites are described in Figures 2 and 3.

Table 1 Sequences of Primer Sets Used for the Two PCR Steps

Figure 2 Binding sites of the primer set used in the step 1 PCR. (A) Forward primer HLACB1F: a mismatch (replacement of G with T) at the penultimate position of the 3 terminus is shown in grey. (B) Reverse primer HLACB1R. The reference sequences were obtained from https://www.ebi.ac.uk/ipd/imgt/hla/.17

Figure 3 Binding sites of the primer sets used in the step 2 PCR. (A) HLAC0302F has one mismatch (replacement of C with T) at the penultimate position of the 3 terminus; HLAC2CF has one mismatch (replacement of T with C) at the third position from the 3 terminus. The mismatches are highlighted in grey; (B) HLAC3CR and HLAC15CR have two different nucleotides (highlighted in grey) at the 3 terminus that ensure the specificity of the primers. The reference sequences were obtained from https://www.ebi.ac.uk/ipd/imgt/hla/.17

First, the AS-PCR protocol was tested on 10 samples of known genotypes. After the first PCR, a single band of 912 bp was obtained in all of the 10 samples (Figure 4A). After the second PCR with the primer set HLAC15CF/HLC15CR, a single band of 569 bp was obtained with 4 samples (numbered 4, 8, 9, 10) (Figure 4B). The PCR with the primer set HLAC2CF/HLAC3CR resulted in a single band of 241 bp with samples numbered 2, 3, 5, 6, 7 8, 9 (Figure 4C). The specific amplification of the HLA-C*03:02 allele with the primer set HLAC0302F/HLAC3CR resulted in a single band of 241 bp with samples numbered 1, 2, 3, and 4 (Figure 4D). The comparison in Table 2 shows a hundred-percent agreement.

Figure 4 The detection of the HLA-C*03:02 allele in 10 samples of known genotype. (A) Step 1: HLA-C exon 23 amplicon, 912 bp; (B) Step 2: amplicon from the primer set HLAC15CF and HLAC15CR, 569 bp; (C) Step 2 amplicon from the primer set HLAC2CF and HLAC3CR, 241 bp; (D) Step 2: amplicon from the primer set HLAC0302F and HLAC3CR, 241 bp. (*): allele number.

Table 2 AS-PCR Results of 10 Samples of Known Genotypes

This protocol was used to genotype 100 samples of unknown HLA-C genotype, of which, we detected seven samples of homozygous HLA-C*03:02 carriers, 36 heterozygous HLA-C*03:02 carriers, and 57 HLA-C*03:02-negative samples. For validation, we used PCR-SBT with all the 100 samples. The results of the protocol highly agreed with the SBT results (=0.98, p < 0.001). For specific detection of the HLA-C*03:02 allele, the PCR protocol had a sensitivity of 100% (95% CI: 91.6100%) and specificity of 98.3% (95% CI: 90.999.7%) (Table 3).

Table 3 Comparison of the AS-PCR Method with PCR-SBT

This protocol was applied to determine the frequency of the HLA-C*03:02 allele in 810 unrelated Vietnamese Kinh people, 14.2% of which were HLA-C*03:02 carriers, the allele frequency was 7.5% (Table 4).

Table 4 HLA-C*03:02 Distributions in Vietnamese Kinh People

The HLA-C gene is a polymorphic region of the human genome. According to the IPD-IMGT/HLA database, 6223 HLA-C alleles and 1540 distinct variant positions had been discovered.18 These SNPs are located mostly in the exon 23 region, and approximately one SNP is present every 2030 nucleotides.19 To date, few PCR-based methods for the specific detection of HLA-A or HLA-B alleles at the two-field classification have been published20,21 and there have been no reports on the detection protocol of HLA-C alleles in general or the specific detection of the HLA-C*03:02 allele.

Due to the polymorphic characteristic of the HLA-C gene, it is difficult to design specific primers for direct amplification of each allele of this locus, it is necessary to cluster the alleles before a specific detection of each target allele. The primer set in the first step PCR was designed for specific amplification of the exon 23 region of the HLA-C gene. A mismatch (replacement of G with T) was placed at the second nucleotide from the 3 terminus of the forward primer (HLACB1F) (Figure 2A) in order to avoid non-specific amplification of other class I HLA loci such as HLA-A, B, E, F, G.

This PCR protocol was customized for the Vietnamese population, with the 18 known HLA-C alleles.9 Therefore, an approach to differentiate the HLA-C*03:02 allele (presenting in 6.8% of the Vietnamese population9) from the other 17 alleles was designed. Three primer sets were used in the second PCR for differentiation purposes. The exon 23 sequences of HLA-C*03:02, *03:03, and *03:04 alleles are highly homologous. Moreover, they all have dinucleotide polymorphisms (at position 935936) that are different from those of the other 15 HLA-C alleles reported by Hoa et al.9 This is the favorable position for designing the reverse primer (HLAC3CR) which is specific for the three homologous alleles, and the reverse primer (HLAC15CR), which is specific for the other 15 HLA-C alleles (Figure 3B).

For the cluster of the three homologous alleles including HLA-C*03:02, *03:03 and *03:04, there are only two SNPs (at position 731 and 795) within the exon 23 sequence, that can be used to distinguish the HLA-C*03:02 allele from the other two alleles (Figure 3A). The SNP at position 731 was used to design the forward primer (HLAC2CF) which was specific to the HLA-C*03:03 and HLA-C*03:04 alleles and the forward primer (HLAC0302F) which was specific to the HLA-C*03:02 allele. The PCR reaction using these primers resulted in a longer PCR product which is more favorable for detection by electrophoresis. Additionally, a mismatch (replacement of C with T) was placed at the penultimate position of the 3 terminus of the HLAC0302F primer and another mismatch (replacement of T with C) was placed at the third nucleotide from the 3 terminus of the HLAC2CF primer (Figure 3A). The protocol was tested on 10 samples of known genotypes, resulting in a hundred-percent agreement, indicating the efficacy of the PCR strategy mentioned above. The validation by PCR-SBT of 100 samples of unknown genotypes showed a sensitivity of 100%, assuring no false negatives, which means that no patients at risk for SCARs due to the HLA-C*03:02 genotype would be missed if this test is applied in clinical settings.

The HLA-B*58:01 allele has been reported to be a predominant allele,22 for this reason, most of HLA-B*58:01 specific genotyping methods only aim to determine the presence or absence of the allele in the genotype. Meanwhile, there has not been any report on the difference between homozygous and heterozygous genotypes of the HLA-C*03:02 allele in the association with allopurinol-induced SCARs. Therefore, we established a flexible protocol that can either determine the presence or absence of the HLA-C*03:02 allele in the genotype or determine zygosity. For the first aim, only one primer set (HLAC0302F/HLAC3CR) is needed in the second PCR. This protocol thus can be used for both research and clinical purposes.

A limitation of this protocol is time-consuming in comparison with other methods such as real-time PCR which requires approximately two hours.23 Nevertheless, the total time for the test including DNA extraction is four hours, enabling to return genotyping results much earlier than sequencing by an outsourcing unit. In addition, this protocol does not require specially trained workers or expensive reagents and equipment; thus, it can be used for screening patients at risk of allopurinol-induced SCARs in local hospitals in developing countries. The total cost for reagents in this method is less than $2, while the costs for high-throughput methods are usually higher.23

Another limitation of this PCR-based protocol is the probability of false-positive results due to cross-contamination during electrophoresis or preparation of DNA template. The validation on 100 samples showed one sample with false-positive result (Table 3). For a screening test, sensitivity is more important than specificity. However, a validation on a larger sample size is needed for a comprehensive evaluation of the protocol.

To date, there has been a report on the HLA-C*03:02 frequency in 170 unrelated Vietnamese Kinh people in Hanoi (the North of Vietnam).9 The present study on 810 unrelated Vietnamese Kinh people evenly distributed in the North, the South and the Centre of Vietnam had a significantly bigger and more representative sample of Vietnamese population. The allele frequency (AF) of the HLA-C*03:02 allele in this study was 7.5%, higher than the AF in the North of Vietnam (6.8%). The HLA-C*03:02 AF of the Vietnamese Kinh people in our study was the same as that of the Korean people (7.42%)24 and the Thai people (7.77%),16 more than that of the Chinese people (5.9%)25 and much more than that of the Japanese people (0.6%),26 the Italian people (0.6%),27 the Swiss people (0.540.72%),28 the African American people (0.975%)29 or the European American people (0.358%).30 The frequency of HLA-C*03:02 carriers was notably high (14.2%), which was similar to that of the Thai people (14.68%).16 These comparisons indicate a diversity of the HLA-C*03:02 allele distribution among various populations and explain a significant association of the HLA-C*03:02 allele and the risk of allopurinol-induced SCARs in certain Asian populations with high HLA-C*03:02 AF such as the Koreans.8 This AS-PCR protocol can be used for the HLA-C*03:02 allele detection in not only Vietnamese people but some other Asian populations with similar genetic characteristics as well.

AF, allele frequency; AS, allele specific; DRESS, drug reactions with eosinophilia and systemic symptoms; HLA, human leukocyte antigen; SBT, sequencing-based typing; SCAR, severe cutaneous adverse drug reactions; SJS, Steven-Johnson syndrome; SNP, Single nucleotide polymorphism; SSO, sequence specific oligonucleotide; TEN, toxic epidermal necrolysis.

The authors would like to thank Dr. Duong Tuan Linh (National Institute of Nutrition) for his valuable supports and comments on the research.

All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

This study was funded by Vietnam Ministry of Health, Grant# 4694/QD-BYT.

The authors report no conflicts of interest for this work.

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[Full text] A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03 | TACG - Dove Medical Press

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