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Archive for the ‘Genetic Testing’ Category

Genetic Testing Market 2020: Challenges, Drivers, Analysis, Types, Applications and Forecast 2025 – The Think Curiouser

COVID-19 impact will also be included and considered for forecast.

Global Genetic Testing Market research report provides detail information about Market Introduction, Market Summary, Global market Revenue (Revenue USD), Market Drivers, Market Restraints, Market Opportunities, Competitive Analysis, Regional and Country Level.

Genetic Testing Market Size Covers Global Industry Analysis, Size, Share, CAGR, Trends, Forecast And Business Opportunity.

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The detailed market intelligence report on the Global Genetic Testing Market applies the most effective of each primary and secondary analysis to weighs upon the competitive landscape and also the outstanding market players expected to dominate Global Genetic Testing Market place for the forecast 2019 2025.

Scope Of The Report:

Report evaluates the growth rate and the Market value based on Market dynamics, growth inducing factors. The complete knowledge is based on latest industry news, opportunities and trends. The report contains a comprehensive Market analysis and vendor landscape in addition to a SWOT analysis of the key vendors.

Geographically, this report split global into several key Regions, revenue (Million USD) The geography (North America, Europe, Asia-Pacific, Latin America and Middle East & Africa) focusing on key countries in each region. It also covers market drivers, restraints, opportunities, challenges, and key issues in Global Genetic Testing Market.

Key Benefits for Genetic Testing Market Reports

Global market report covers in-depth historical and forecast analysis.

Global market research report provides detail information about Market Introduction, Market Summary, Global market Revenue (Revenue USD), Market Drivers, Market Restraints, Market Opportunities, Competitive Analysis, Regional and Country Level.

Global market report helps to identify opportunities in market place.

Global market report covers extensive analysis of emerging trends and competitive landscape.

Genetic Testing Market Segmentation:

Segmentation by Type:

Newborn Screening Diagnostic Testing Carrier Testing Preimplantation Genetic Diagnosis Prenatal Diagnosis Predictive and Presymptomatic Testing Pharmacogenomics

Segmentation by Application:

Cardiology Dermatology Hematology Hereditary Cancer Immunology Metabolic Disorders and Newborn Screening Neurology Ophthalmology Pediatric Genetics Others

By Region

North America









Rest of Europe



South Korea



Rest of Asia-Pacific


Latin America

Middle East


Genetic Testing Market Key Players:

GeneDx Invitae Pathway Genomics United Gene HI Gene Berry Genomics 23andMe Inc 360Jiyin Novogene CapitalBio Agen Biomedlab Biomarker Annoroad Aiyin Gene Aijiyin Repconex Counsyl Inc Asper Biotech GenePlanet Courtagen Life Sciences Gene By Gene Natera Inc Regulatory GeneTests Find Bio-Tech SinoGenoMax Gene Kang Geeppine BGI

This comprehensive report will provide:

Enhance your strategic decision making

Assist with your research, presentations and business plans

Show which emerging market opportunities to focus on

Increase your industry knowledge

Keep you up-to-date with crucial market developments

Allow you to develop informed growth strategies

Build your technical insight

Illustrate trends to exploit

Strengthen your analysis of competitors

Provide risk analysis, helping you avoid the pitfalls other companies could make

Ultimately, help you to maximize profitability for your company.

Our Market Research Solution Provides You Answer to Below Mentioned Question:

Which are the driving factors responsible for the growth of market?

Which are the roadblock factors of this market?

What are the new opportunities, by which market will grow in coming years?

What are the trends of this market?

Which are main factors responsible for new product launch?

How big is the global & regional market in terms of revenue, sales and production?

How far will the market grow in forecast period in terms of revenue, sales and production?

Which region is dominating the global market and what are the market shares of each region in the overall market in 2017?

How will each segment grow over the forecast period and how much revenue will these segment account for in 2025?

Which region has more opportunities?

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Our Market Research Solution Provides You Answer to Below Mentioned Question:

Which are the driving factors responsible for the growth of market?

Which are the roadblock factors of this market?

What are the new opportunities, by which market will grow in coming years?

What are the trends of this market?

Which are main factors responsible for new product launch?

How big is the global & regional market in terms of revenue, sales and production?

How far will the market grow in forecast period in terms of revenue, sales and production?

Which region is dominating the global market and what are the market shares of each region in the overall market in 2017?

How will each segment grow over the forecast period and how much revenue will these segment account for in 2025?

Which region has more opportunities?

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Genetic Testing Market 2020: Challenges, Drivers, Analysis, Types, Applications and Forecast 2025 - The Think Curiouser

Direct-to-consumer Genetic Testing Market to Witness Huge Growth by 2027 – TechnoWeekly

Contrive Datum Insights has added a new report, titled as Direct-to-consumer Genetic Testing market. It includes the analytical data of target industries, which provides different insights to drive the businesses. For growth of the industries, it gives more focus on the ongoing trends and studies the recent developments in Direct-to-consumer Genetic Testing market. It covers different aspects of this industry which helps to comprehend the manufacturing and service process. It focuses more on the specifications of the products or services, which helps to increase the customers rapidly. Additionally, this report is summarized with different segmentation types along with its subtypes. To present the growth rate, it uses graphical presentation techniques.

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The report on the Direct-to-consumer Genetic Testing market offers a microscopic view of the Direct-to-consumer Genetic Testing market and ponders over the various factors that are likely to influence the dynamics of the Direct-to-consumer Genetic Testing market during the forecast period (2020-2027). The detailed study offers valuable insights related to the micro and macro-economic factors, year-on-year growth of the different market segments, supply chain, value chain, and other parameters of the Direct-to-consumer Genetic Testing market.

The following manufacturers are covered in this report:

23andMe, LabCorp, Myriad Genetics, Quest Diagnostics, African Ancestry, Alpha Biolaboratories, Ambry Genetics, AncestrybyDNA, Anglia DNA Services, Canadian DNA Services, Centrillion Technology, Color Genomics, Counsyl, Dante Labs, DNA Diagnostics Center, DNA Family Check, DNA4Life, DNA Services of America, EasyDNA, Full Genomes, 24genetics, Gene By Gene, GHC GENETICS, Genetic Health, IDENTIGENE, IntelliGenetics, Invitae, Living DNA, Walk-In Lab, Xcode, Mapmygenome, MyHeritage, Pathway Genomics, Positive Bioscience, SureGenomics, Shuwen Health Sciences, Sonora Quest Laboratories, Test Me DNA, VCGS.

The top key driving factors are included in the report along with the restraints, and opportunities, and that helps to indicate ups and downs of the businesses. For better understanding of the domestic and global framework, different attributes, such as working methodology, scope, future prediction, recent trends, investments, and profit are considered. Finally, it provides a better idea of this Direct-to-consumer Genetic Testing market, during the forecast period.

Competition AnalysisIn the competitive analysis section of the report, leading as well as prominent players of the global Direct-to-consumer Genetic Testing market are broadly studied on the basis of key factors. The report offers comprehensive analysis and accurate statistics on sales by the player for the period 2015-2020. It also offers detailed analysis supported by reliable statistics on price and revenue (global level) by player for the period 2015-2020.

Global Direct-to-consumer Genetic Testing Market Segmentation:

On the Basis of Type:Diagnostic ScreeningPrenatal, newborn screening, pre-implantation diagnosisRelationship testing

On the Basis of Application:Direct salesRetail salesLaboratory sales

Regions Covered in the Global Direct-to-consumer Genetic Testing Market: The Middle East and Africa (GCC Countries and Egypt) North America (the United States, Mexico, and Canada) South America (Brazil etc.) Europe (Turkey, Germany, Russia UK, Italy, France, etc.) Asia-Pacific (Vietnam, China, Malaysia, Japan, Philippines, Korea, Thailand, India, Indonesia, and Australia)

The report provides insights on the following pointers:

Market Penetration: Comprehensive information on the product portfolios of the top players in the Direct-to-consumer Genetic Testing market.

Product Development/Innovation: Detailed insights on the upcoming technologies, R&D activities, and product launches in the market.

Competitive Assessment: In-depth assessment of the market strategies, geographic and business segments of the leading players in the market.

Market Development: Comprehensive information about emerging markets. This report analyzes the market for various segments across geographies.

Market Diversification: Exhaustive information about new products, untapped geographies, recent developments, and investments in the Direct-to-consumer Genetic Testing market.

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Table of Content (TOC):

Chapter 1 Introduction and Overview

Chapter 2 Industry Cost Structure and Economic Impact

Chapter 3 Rising Trends and New Technologies with Major key players

Chapter 4 Global Direct-to-consumer Genetic Testing Market Analysis, Trends, Growth Factor

Chapter 5 Direct-to-consumer Genetic Testing Market Application and Business with Potential Analysis

Chapter 6 Global Direct-to-consumer Genetic Testing Market Segment, Type, Application

Chapter 7 Global Direct-to-consumer Genetic Testing Market Analysis (by Application, Type, End User)

Chapter 8 Major Key Vendors Analysis of Direct-to-consumer Genetic Testing Market

Chapter 9 Development Trend of Analysis

Chapter 10 Conclusion

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Direct-to-consumer Genetic Testing Market to Witness Huge Growth by 2027 - TechnoWeekly

Genetic Testing Services to Discern Magnified Growth During 2020-2025 – The Think Curiouser

The latest published an effective statistical data titled as Genetic Testing Services Market. It defines about the recent innovations, applications and end users of the market. It covers the different aspects, which are responsible for the growth of the industries. Different domains are considered on the basis of the capital of Genetic Testing Services market. The analyst examines different companies on the basis of their productivity to review the current strategies. All leading players across the globe, are profiled with different terms, such as product types, industry outlines, sales and much more.

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The study throws light on the recent trends, technologies, methodologies, and tools, which can boost the performance of companies. For further market investment, it gives the depth knowledge of different market segments, which helps to tackle the issues in businesses. It includes effective predictions about the growth factors and restraining factors that can help to enlarge the businesses by finding issues and acquire more outcomes. Leading market players and manufacturers are studied to give a brief idea about competitions. To make well-informed decisions in Genetic Testing Services areas, it gives the accurate statistical data.

The analyst also focuses on economic and environmental factors, which impacts on the growth of the businesses. For global analysis, the market is examined by considering the different regions such as North America, Latin America, Japan, China, and India. Leading companies are focusing on spreading their products across the regions. Research and development activities of the various industries are included in the report, to decide the flow of the market.

The major players profiled in this report include:Laboratory Corporation of America HoldingsQuest Diagnostics IncorporatedGenomic HealthNeoGenomics LaboratoriesEurofins ScientificAmbry GeneticsIlluminaNatera

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Competition Analysis

This report examines the ups and downs of the leading key players, which helps to maintain proper balance in the framework. Different global regions, such as Germany, South Africa, Asia Pacific, Japan, and China are analyzed for the study of productivity along with its scope. Moreover, this report marks the factors, which are responsible to increase the patrons at domestic as well as global level.

The end users/applications and product categories analysis:On the basis of product, this report displays the sales volume, revenue (Million USD), product price, market share and growth rate of each type, primarily split into-General Type

On the basis on the end users/applications, this report focuses on the status and outlook for major applications/end users, sales volume, market share and growth rate of Genetic Testing Services for each application, including-OncologyInfectious Diseases

It gives a detailed description of drivers and opportunities in Genetic Testing Services market that helps the consumers and potential customers to get a clear vision and take effective decisions. Different analysis models, such as, Genetic Testing Services are used to discover the desired data of the target market. In addition to this, it comprises various strategic planning techniques, which promotes the way to define and develop the framework of the industries.

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The reports conclusion leads into the overall scope of the global market with respect to feasibility of investments in various segments of the market, along with a descriptive passage that outlines the feasibility of new projects that might succeed in the global Genetic Testing Services market in the near future. The report will assist understand the requirements of customers, discover problem areas and possibility to get higher, and help in the basic leadership manner of any organization. It can guarantee the success of your promoting attempt, enables to reveal the clients competition empowering them to be one level ahead and restriction losses.

The content of the study subjects, includes a total of 15 chapters:

Chapter 1 Introduction and Overview

Chapter 2 Industry Cost Structure and Economic Impact

Chapter 3 Rising Trends and New Technologies with Major key players

Chapter 4 Global Genetic Testing Services Market Analysis, Trends, Growth Factor

Chapter 5 Genetic Testing Services Market Application and Business with Potential Analysis

Chapter 6 Global Genetic Testing Services Market Segment, Type, Application

Chapter 7 Global Genetic Testing Services Market Analysis (by Application, Type, End User)

Chapter 8 Major Key Vendors Analysis of Genetic Testing Services Market

Chapter 9 Development Trend of Analysis

Chapter 10 Conclusion

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Genetic Testing Services to Discern Magnified Growth During 2020-2025 - The Think Curiouser

Complete Growth Overview On Direct-to-Consumer Genetic Testing (DTC-GT) Market In 2020-2027 Including Top Key Players, Trends And Emerging Growth…

Dataintelo publishes a detailed report on Direct-to-Consumer Genetic Testing (DTC-GT) market providing a complete information on the current market situation and offering robust insights about the potential size, volume, and dynamics of the market during the forecast period, 2020-2026. This report offers an in-depth analysis that includes the latest information including the current COVID-19 impact on the market and future assessment of the impact on Global Direct-to-Consumer Genetic Testing (DTC-GT) Market. The report contains XX pages, which will assist clients to make informed decision about their business investment plans and strategies for the market. As per the report by Dataintelo, the global Direct-to-Consumer Genetic Testing (DTC-GT) market is projected to reach a value of USDXX by the end of 2026 and grow at a CAGR of XX% during the forecast period.

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The Direct-to-Consumer Genetic Testing (DTC-GT) market report also covers an overview of the segments and sub-segmentations including the product types, applications, and regions. In the light of this harsh economic condition as prompted by the COVID-19 outbreak, the report studies the dynamics of the market, changing competition landscape, and the flow of the global supply and consumption.

The report exclusively deals with key areas such as market size, scope, and growth opportunities of the Direct-to-Consumer Genetic Testing (DTC-GT) market by analyzing the market trend and data available for the period from 2020-2026. Keeping 2019 as the base year for the research study, the report explains the key drivers as well as restraining factors, which are likely to have major impact on the development and expansion of the market during the forecast period.

The report, published by Dataintelo, is the most reliable information as the study relies on a concrete research methodology focusing on both primary as well as secondary sources. The report is prepared by relying on primary source including interviews of the company executives & representatives and accessing official documents, websites, and press release of the private and public companies.

The report, prepared by Dataintelo, is widely known for its accuracy and factual figures as it consists of a concise graphical representations, tables, and figures which displays a clear picture of the developments of the products and its market performance over the last few years. It uses statistical surveying for SWOT analysis, PESTLE analysis, predictive analysis, and real-time analytics.

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Furthermore, the scope of the growth potential, revenue growth, product range, and pricing factors related to the Direct-to-Consumer Genetic Testing (DTC-GT) market are thoroughly assessed in the report in a view to entail a broader picture of the market. The report also covers the recent agreements including merger & acquisition, partnership or joint venture and latest developments of the manufacturers to sustain in the global competition of the Direct-to-Consumer Genetic Testing (DTC-GT) market.

Competition Landscape:

The report covers global aspect of the market, covering

Global Direct-to-Consumer Genetic Testing (DTC-GT) market by Types:

Over-the-Counter (OTC) ChannelOnline Channel

Global Direct-to-Consumer Genetic Testing (DTC-GT) market by Applications:

Ancestry-based Genetic TestsHealth and Wellness-based Genetic TestsEntertainment-based Genetic Tests

Key Players for Global Direct-to-Consumer Genetic Testing (DTC-GT) market: LLCDante LabsEasyDNAGenebaseAtlas BiomedFamily Tree DNAMyHeritageMapmygenome

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Complete Growth Overview On Direct-to-Consumer Genetic Testing (DTC-GT) Market In 2020-2027 Including Top Key Players, Trends And Emerging Growth...

Genetic Testing for Consumers (DTC) Market Structure, Industry Inspection, and Forecast 2025 – Express Journal

The study on Genetic Testing for Consumers (DTC) market provides thorough insights pertaining to major growth drivers, challenges, and opportunities that will influence the industry expansion in the forthcoming years.

According to the research document, the industry is expected to register XX% CAGR over the forecast period (2020-2025), subsequently accruing significant gains by the end of analysis timeframe.

The market is in a disarray due to the lockdowns imposed for limiting the spread of COVID-19 outbreak. In addition to the sudden slump of revenue, some businesses are expected to tackle a plethora of challenges post the pandemic.

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Most of the businesses across various sectors have renewed their budgets to focus on profit gains in upcoming years. Our comprehensive analysis of the business sphere can help stakeholders in making sound decisions to compensate for market uncertainties and support them in building strong contingency plans.

Further, the report provides a granular assessment of the several industry segmentations to convey a deeper understanding of the areas with strong profit potential.

Key inclusions of the Genetic Testing for Consumers (DTC) market report:

Genetic Testing for Consumers (DTC) Market segments covered in the report:

Regional segmentation:

Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa)

Product types: Carrier Testing, Predictive Testing, Ancestry & Relationship Testing, Nutrigenomics Testing and Others

Applications spectrum: Online Platforms and Over-the-Counter

Competitive outlook:

Our Market Research Solution Provides You Answer to Below Mentioned Question:

Which are the key factors driving the growth of the industry?

What are the emerging market trends and opportunities for this sector?

What is the future growth trend of this industry?

What is the size of the global and regional sector in terms of volume, size, and revenue?

Which is the most promising region in the global market?

What is the forecasted revenue and volume growth rates of the industry in the coming years?

Which region holds the highest share and what are the market shares of other key regions?

How will each segment and region grow over the years until 2025?

Table of Contents:

Report Overview: It includes major players of the global Genetic Testing for Consumers (DTC) market covered in the research study, research scope, and Market segments by type, market segments by application, years considered for the research study, and objectives of the report.

Market Share by Manufacturers: Here, the report provides details about revenue by manufacturers, production and capacity by manufacturers, price by manufacturers, expansion plans, mergers and acquisitions, and products, market entry dates, distribution, and market areas of key manufacturers.

Production by Region: Here, the production value growth rate, production growth rate, import and export, and key players of each regional market are provided.

Consumption by Region: This section provides information on the consumption in each regional market studied in the report. The consumption is discussed on the basis of country, application, and product type.

Market Size by Type: This section concentrates on product type segments where production value market share, price, and production market share by product type are discussed.

Market Size by Application: Besides an overview of the global Genetic Testing for Consumers (DTC) market by application, it gives a study on the consumption in the global Genetic Testing for Consumers (DTC) market by application

Company Profiles: Almost all leading players of the global Genetic Testing for Consumers (DTC) market are profiled in this section. The analysts have provided information about their recent developments in the global Genetic Testing for Consumers (DTC) market, products, revenue, production, business, and company.

Key Findings: This section gives a quick look at important findings of the research study.

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Genetic Testing for Consumers (DTC) Market Structure, Industry Inspection, and Forecast 2025 - Express Journal

Genetic Testing Market: Strategic Analysis to Understand the Competitive Outlook of the Industry, 2024 – TechnoWeekly

The research report on the Genetic Testing Market provides professional in-depth analysis available on the market status and latest trends, including growth, opportunities, competitive landscape, technological advancement, product offerings of key players, and the dynamic structure of the market. Besides this, it contains a detailed analysis of the Genetic Testing Market scope, potential, financial impacts, and also envelops the precise evaluation of market share, product & sales volume, and revenue.

Genetic Testing Market was valued at USD XX billion in 2019 and is projected to reach USD XX billion by 2027, growing at a CAGR of XX% from 2020 to 2027.

The report is updated with the latest changes in the market dynamics owing to the recent COVID-19 pandemic. The report covers an extensive impact analysis of the COVID-19 crisis on the overall market. The report also provides an insight into the current and future market trends with regards to the COVID-19 pandemic.

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Top Companies in the Global Genetic Testing Market Research Report:

The following players are covered in this report:



Bio-Rad Laboratories

F. Hoffmann-La Roche

Myriad Genetics


Quest Diagnostics

Genetic Testing

The Genetic Testing Market Report provides future growth drivers and the competitive landscape. This will be beneficial for buyers of the market report to gain a clear view of the important growth and subsequent market strategy. The granular information in the market will help monitor future profitability and make important decisions for growth.

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The Genetic Testing Market report provides in-depth statistics and analysis available on the market status of the Genetic Testing key players and is a valuable method of obtaining guidance and direction for companies and business enterprise insider considering the Genetic Testing market. It contains the analysis of drivers, challenges, and restraints impacting the industry.

Breakdown Data by Type



Genetic Testing Breakdown Data by Application

Predictive and Diagnostic Testing

Prenatal, Newborn, and Pre-Implantation Testing

Pharmacogenomic Testing

Forensic, Relationship, and Ancestry Testing

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Fundamentals of Table of Content:

1 Report Overview

1.1 Study Scope

1.2 Key Market Segments

1.3 Players Covered

1.4 Market Analysis by Type

1.5 Market by Application

1.6 Study Objectives

1.7 Years Considered

2 Global Growth Trends

2.1 Genetic Testing Market Size

2.2 Genetic Testing Growth Trends by Regions

2.3 Industry Trends

3 Market Share by Key Players

3.1 Genetic Testing Market Size by Manufacturers

3.2 Genetic Testing Key Players and Area Served

3.3 Key Players Genetic Testing Product/Solution/Service

3.4 Date of Enter into Genetic Testing Market

3.5 Mergers & Acquisitions, Expansion Plans

4 Breakdown Data by Product

4.1 Global Genetic Testing Sales by Product

4.2 Global Genetic Testing Revenue by Product

4.3 Genetic Testing Price by Product

5 Breakdown Data by End User

5.1 Overview

5.2 Global Genetic Testing Breakdown Data by End User

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Genetic Testing Market: Strategic Analysis to Understand the Competitive Outlook of the Industry, 2024 - TechnoWeekly

Beyond just surviving: Cancer and plastic surgery team at Baystate Medical Center healing both body and self- –

Being diagnosed of having cancer is in and of itself ominous, but when it comes to breast cancer, specifically for women it is not just life and death, psychological factors like self-identity and esteem are just as important.

In the U.S., more than 250,000 new cases of breast cancer are expected in 2020, according to the National Cancer Institute. Oncoplastic surgeons at Baystate Health are working closely to address the impact cancer will have on womens physical health and their psychological well being.

Baystate Breast Surgical Oncology and Breast Specialist Danielle Lipoff knew she wanted to dedicate her life to oncology at just 14 years old after seeing a surgical procedure on TV.

Oncology is the study of cancer. An oncologist is a doctor who treats cancer and provides medical care for a person diagnosed with cancer. The field of oncology has three major areas: medical, surgical and radiation. Lipoff chose the surgical aspect.

I was like, yeah, thats going to do. I want to go to med school and thats what I want to do, said Lipoff. I spent a long time trying to talk myself out of surgery, trying to talk myself out of breast care just to make sure.

Lipoff was part of a multidisciplinary tumor board at Massachusetts General Hospital shortly after she finished grad school, that looked at the Suppression of Ovarian Function (SOFT) and Tamoxifen and Exemestane Trial (TEXT).

SOFT was designed to determine the value of adding ovarian suppression to tamoxifen and to determine the role of the aromatase inhibitor exemestane plus ovarian suppression.

TEXT was designed to determine the value of exemestane as compared with tamoxifen in women treated with ovarian suppression.

The two clinical trials dictated practices on cancer care that are now used, Lipoff told MassLive.

Performed at Baystate Medical Center in Springfield, oncoplastic surgery is a combination of cancer surgery and plastic surgery that removes the part of the breast that has cancer in an attempt to preserve the physical appearance of a womans natural shape pre-operation. It is done in one surgical procedure.

Using advanced radiologic imaging, surgeons are able to locate cancerous tumors and make more precise incisions and to remove the cancer in its entirety with minimal disturbance to the surrounding tissue.

In the U.S., breast cancer is the most common cancer for both men and women. There are 279,100 new cases expected in the U.S. in 2020, according to the National Cancer Institute. The next most common cancers are lung cancer and prostate cancer.

Survival from breast cancer has significantly improved and the potential late effects of treatment and the impact on the quality of life have become increasingly important.

Oncoplastic surgery began in the early to mid-1980s, mostly by European and American surgeons and is considered a major advancement for women with breast cancer. The process involves planning the lumpectomy and immediate reconstruction together. It may involve operating on both breasts, including one that may not have cancer, to make the two breasts symmetrical.

Baystate Medical Center Surgical Oncology and Breast Specialist Danielle Lipoff works in partnership with Plastic and Reconstructive Surgeon William Collins to perform oncoplastic surgery on women that have suffered from breast cancer. (Douglas Hook / MassLive)

Lumpectomy is a surgical operation in which a lump is removed from the breast, typically when cancer is present but has not spread.

Five percent of breast cancers are genetically related. They are related to genetic mutation. One of the biggest risk factors within breast cancer is family history, said Lipoff. So, thats definitely part of the conversation we have when patients come in. How many family members have been diagnosed with breast cancer and ovarian cancer with both connected to genetic mutations.

The genes most commonly affected in hereditary breast and ovarian cancer are the breast cancer 1 and breast cancer 2 genes. About 3% of breast cancers, about 7,500 women per year, and 10% of ovarian cancers, roughly 2,000 women per year, result from inherited mutations in the BRCA1 and BRCA2 genes, according to the Centers for Disease Control and Prevention.

Lipoff told MassLive that the genetic tests that are done now are completely different from five years ago. Doctors across the world are learning about new mutations connected to breast cancers almost every day.

The right surgery will depend on many factors: the size and location of the cancer, how advanced the cancer is, whether the cancer has spread and whether genetic testing indicates BRCA1 or BRCA2 or other genetic mutations.

Hollywood film star Angelina Jolie announced six years ago that she had undergone a double mastectomy because she carries a genetic mutation that greatly increases her risk of potentially fatal breast cancer.

Jolie said she began the process to have both of her breasts removed in early 2013 because she lost her mother, actress Marcheline Bertrand, to ovarian cancer when her mother was just 56.

At Baystate Medical Center, Surgical Oncology and Breast Specialist Danielle Lipoff and Plastic and Reconstructive Surgeon William Collins work closely together to discuss breast-conserving surgery. (Todd Lajoie)

Theres no other diagnosis like breast cancer that can affect a womans sense of self, said Lipoff. Theres that conversation that all starts with the patients in regard to how they feel about the size and shape of their breasts. How does it connect to their sense of self their sexuality and their sensuality.

Not every mutation results in a patient having to go through the harrowing surgical procedure of a mastectomy. Oncoplastic surgery involves saving more of a womans breast tissue, with the aim of a better cosmetic outcome. After the surgeon completely removes cancerous tissue, the plastic surgeon then reshapes or reconstructs the remaining breast tissue to achieve a more natural look without using implants.

This kind of breast surgery allows women to keep much of their breasts. The type and extent of surgery are based on the size of the breast, the size of the mass and the type of cancer.

If they do opt to go to implant reconstruction, then it becomes they see themselves out of the corner of their eye and they dont remember they have the breast cancer anymore because they look like themselves, Lipoff said.

She added that ultimately the surgery cant recreate a breast with the same sensation and feel it had before, but the surgery does attempt to give the best sense of self that is available.

Any cancer diagnosis is going to be a significant hit on the patients psyche one way or the other, said Lipoff. Everybody deals with it differently. But we do know quality of life is improved with breast conservation. [Womens] sense of self, sexuality [and] sensuality is improved with breast conservation. Most of our patients retain all sensitivity within the nipple and skin with breast conservation, so to be able to provide that is significant.

Breast surgery scars have shown to significantly impact a womans psychological and emotional recovery and quality of life after surgery because scars can have a large impact on a womans self-confidence, intimacy, and body image. All Baystate Health breast surgeons are hidden scar trained and certified, according to Lipoff.

When women come to the hospital, they will undergo a series of meetings with not only doctors to better understand their condition and what can be done to address the concern itself, but also social.

Baystate Medical Center Plastic Surgeon William Collins works in partnership with Breast Surgeon Danielle Lipoff to perform oncoplastic surgery on women that have suffered from breast cancer. (Douglas Hook / MassLive)

When conducting our visit and we have our meeting, I am trying to get a sense of what their goals are and then we work through the reconstructive process in a way that helps them approach [and] achieve those goals in terms of size symmetry and shape, said Baystate Plastic and Reconstructive Surgeon William Collins.

Collins studied for five years in general surgery and then went on to plastic surgery. He told MassLive, the combination of anatomy, oncology and long-term relationships with patients attracted Collins to the role.

The Baystate doctors emphasized the phycological impact the diagnosis can have for women when they come to the hospital and that this surgery can be as effective at fighting cancer and as an added plus, gives women more options.

We know that, if the full plan is put together, breast conservation and mastectomys overall survival for breast cancer is exactly the same, Lipoff said, emphasizing that she always looks to preserve the breast first and foremost. Then it becomes a patient choice as to whether they want it to be breast conservation versus mastectomy.

Lipoff explained that there are different levels of reconstruction. There are smaller on the oncoplastic techniques where she can rearrange breast tissue to put together the deficit from other tissue removed to leave a good symmetry.

I cant always do that, Lipoff said. Sometimes its a larger cancer and thats when I call on my colleagues and plastic surgical department to assist.

The plastic surgery essentially combines the emphasis on reconstruction with the secondary goal of preserving the patients appearance and optimizing breast shape symmetry, Collins added. The ultimate goal is to remove the cancer.

At Baystate Medical Center, Surgical Oncology and Breast Specialist Danielle Lipoff and Plastic and Reconstructive Surgeon William Collins work closely together to discuss breast-conserving surgery. (Todd Lajoie)

It is of the utmost importance for Lipoff and Collins' departments to work harmoniously to coordinate treatment for patients' specific cases and needs. Collins added that he and Lipoff are in constant communication.

No two surgeries are the same. Each patient is unique because diagnosis differs from the next.

Every reconstructive and oncoplastic operation is tailored to each patient, said Collins. Thats what makes it exciting. Every day is a new challenge. Its very gratifying to help these people during this time.

For Collins and Lipoff, it isnt just about the glamour of being a surgeon. Both Lipoff and Collins follow their patients' post-surgery to monitor their progress. Collins told MassLive that he develops really meaningful relationships that are incredibly gratifying and fulfilling.

Even the most challenging days makes you excited to come to work, Collins said.

Baystate Health has produced a free virtual Breast Health Series during Breast Cancer Awareness Month, which viewers can participate in from the comforts of their own homes that started on Oct. 14.

Collins and Lipoff will be speaking on their work at the hospital on Oct. 21 in the lecture called The Restorative Breast Collaboration. The link is available at the Baystate Health website along with the virtual Breast Health Series.

Got a news tip or want to contact MassLive about this story? Email or message us on Facebook orTwitter. You can also call our news tips line at 413-776-1364.

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Beyond just surviving: Cancer and plastic surgery team at Baystate Medical Center healing both body and self- -

Global DTC Genetic Testing Market By New Business Developments, Innovations, And Key Companies, Forecast To 2026 Globalmarketers Research – PRnews…

Global DTC Genetic Testing Market Report describes the basic elements of the industry and market stats, the recent advances in technology, business plans, policies, possibilities for development and risks to the sector are being described. The two key segments of the report, namely market revenue in (USD Million) and market size (k MT) are presented in this report. The Scope of DTC Genetic Testing industry, market concentration and presence across various region are described in detail.

The prominent DTC Genetic Testing industry players are covered in the next section, their business profiles, product information, and market size. Also, the SWOT analysis of these players, business plans & strategies are covered. It covers the product definition, classification, type and price structures.

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Major players covered in this report:

Color GenomicsLaboratory Corporation of AmericaMapMyGenomeGene by Gene23andMeAfrican AncestryHelixWeGeneMyriad GeneticsPathway GenomicsQuest DiagnosticsThermo Fisher

Market Segmentation:

By Type:

Disease Risk and HealthAncestry or GenealogyKinshipLifestyle

By Application:

On-line SalesDoctors Office

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In this report DTC Genetic Testing manufacturing value and growth rate from 2015-2019 will be provided at regional level. The nitty gritty evaluation of segments and sub-segments of emerging industries are clerified. It covers DTC Genetic Testing industry plans & policies, financial status, cost structures and analyzes of the value chain. The DTC Genetic Testing competitive perspective of the countryside, the production base, the evaluation of the production method and the upstream raw materials are assessed.

The gross margin, consumption pattern, growth rate of DTC Genetic Testing is studied precisely. The top industry players are covered on a regional level and country level with the analysis of their revenue share from 2015-2019. Furthermore, forecast DTC Genetic Testing industry status is determined by analysis of expected market share, volume, value and development rate. The forecast DTC Genetic Testing industry view is presented from 2020-2026.

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Table of Contents:

Global DTC Genetic Testing Market Size, Status and Forecast 2026

1 DTC Genetic Testing Industry Overview

2 DTC Genetic Testing Competition Analysis by Players

3 Company (Top Players) Profiles

4 Global DTC Genetic Testing Market Size by Type and Application (2015-2019)

5 United States DTC Genetic Testing Development Status and Outlook

6 EU DTC Genetic Testing Development Status and Outlook

7 Japan DTC Genetic Testing Development Status and Outlook

8 DTC Genetic Testing Manufacturing Cost Analysis

9 India DTC Genetic Testing Development Status and Outlook

10 Southeast Asia DTC Genetic Testing Development Status and Outlook

11 Market Forecast by Regions, Type and Application (2020-2026)

12 DTC Genetic Testing Market Dynamics

12.1 DTC Genetic Testing Industry News

12.2 DTC Genetic Testing Industry Development Challenges

12.3 DTC Genetic Testing Industry Development Opportunities (2020-2026)

13 Market Effect Factors Analysis

14 Global DTC Genetic Testing Market Forecast (2020-2026)

15 Research Finding/Conclusion

16 Appendix

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Global DTC Genetic Testing Market By New Business Developments, Innovations, And Key Companies, Forecast To 2026 Globalmarketers Research - PRnews...

Five Elected to the National Academy of Medicine – Columbia University Irving Medical Center

The National Academy of Medicine today announced that five members of the CUIMC facultySonia Yris Angell, Andrea Baccarelli, Wendy Chung, Kam W. Leong, and Patricia Stonehave been elected to the academy.

Members of NAM, formerly known as the Institute of Medicine, are elected by their peers in recognition of outstanding achievement. Membership is one of the highest honors bestowed in the field of medicine. The election reflects the high esteem of peers and colleagues. NAM members are part of a group of distinguished individuals who have made important contributions to health, medicine, and science.

Since 1970, when the Institute of Medicine was established as part of the congressionally chartered National Academy of Sciences, the organization's work and recommendations have shaped health research, practice, and policies that improve the lives of millions of people around the world.

The five new CUIMC members:

Sonia Yris Angell, MD, MPH, assistant clinical professor of medicine in theVagelos College of Physicians and Surgeons, was selected for her leadership in the nations first municipal regulation to ban transfat, launching national coalitions to reduce sodium and sugar in our food supply, working globally to improve control of hypertension, and for global leadership in modeling environmental change to sustainably reduce risk and save lives.

As a public health expert, Angell works on policies and programs that make places where we live, work, and play, healthier for all of us.She was previously deputy commissioner at New York City'sDepartment of Health and Mental Hygiene, overseeing the Division of Prevention and Primary Care, and was the founder and director of its Cardiovascular Disease Program. She also was a senior adviser for global noncommunicable diseases at the Centers for Disease Control and Prevention (CDC).

Andrea Baccarelli, MD, PhD, the Leon Hess Professor and Chair of the Department of Environmental Health Sciences in the Mailman School of Public Health, was selected for his pioneering work showing that environmental chemicals and lifestyle risk factors adversely affect the human epigenome, thereby producing adverse lifetime health consequences.

Baccarelli also serves as director of the Laboratory of Precision Environmental Health. An epigeneticist andclinical endocrinologist, Baccarelli helped develop powerful new tools in environmental epigenetics, not only to document the health risks of a variety of synthetic toxins, but also as an avenue to preventionand even targeted therapies. His lab has produced numerous publications at the intersection of epigenetics, molecular epidemiology, and environmental health.Over the course of his career, Baccarelli has expanded the vocabulary of epigenetics, showing how environmental damage inscribes itself in the body.

Wendy Chung, MD, PhD, the Kennedy Family Professor of Pediatrics and Medicine in theVagelos College of Physicians and Surgeons and leader of the Precision Medicine Resource in the Irving Institute, was selected for identifying the genetic basis for over 45 monogenic conditions (two of which bear her name) across a wide range of diseases and leading the pivotal study of newborn screening for spinal muscular atrophy.

Chung was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and served on the Institute of Medicine's Committee on Genetic Testing. She is a board-certified clinical and molecular geneticist with 20 years of experience in human genetic research of monogenic and complex traits including diseases such as breast cancer, pancreatic cancer, congenital heart disease, pulmonary hypertension, inherited arrhythmias, cardiomyopathies, obesity, diabetes, congenital diaphragmatic hernias, and autism.

She has received the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, the New York Academy Medal for Distinguished Contributions in Biomedical Science, and the Rare Impact Award from the National Organization of Rare Disorders. Chung is renowned for her teaching and mentoring and received Columbia University's highest teaching award, the Presidential Award for Outstanding Teaching.

Kam W. Leong, PhD, the Samuel Y. Sheng Professor ofBiomedical Engineering in the Fu Foundation School of Engineering and Applied Science (in Systems Biology in the Vagelos College of Physicians and Surgeons), was selected for his innovative developments in multifunctional nanoscale technologies for delivering drugs, antigens, proteins, siRNA, and DNA to cells.

Innovations in the Leong Lab focus on the design of therapeutic biomaterials for gene editing, drug and gene delivery, and regenerative medicine. He is developing nanocarriers that can deliver gene-editing elements to the liver for metabolic disorders, and studying the gene-editing efficiency in other tissues such as the brain and the gastrointestinal tract. Heis also working on the construction of human tissue-on-chips for disease modeling and drug development, particularly in using tissue-engineered blood vessel to model Marfan Syndrome and atherosclerosis, and generating patient-specific brain organoids to model neuropsychiatric disorders and opioid usage disorder.

Leong is internationally recognized as a leader in the development of nanoscale therapeutics. In 2013 he was elected to the National Academy of Engineering and theNational Academy of Inventors.

Patricia Stone, PhD, RN, the Centennial Professor of Health Policy and director of the Center for Health Policy in theSchool of Nursing, was selected for her expertise and sustained scholarly efforts in real-world comparative and economic evaluations of improving the quality of care and specifically preventing health care-associated infections.

Stone is dedicated to educating nurses in health policy methods as well as developing and disseminating knowledge that informs policymakers at the local, state, and national levels. She has a long history of research and has been the principal investigator on many federal and foundation-supported grants. She has served on a number of important policymaking committees, co-chaired two National Quality Forum Technical Advisory Panels, and served as an expert for the Massachusetts Expert Panel on Healthcare-Associated Infections and theCalifornia Health Department.

Her work on the cost of health care-associated infections hasbeen cited in major publications, Centers for Disease Control and Prevention guidelines, and the Health and Human Services Healthcare-Associated Infections Action Planand hascontributed to recent changes in health policy.

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Five Elected to the National Academy of Medicine - Columbia University Irving Medical Center

Orig3n analysis IDd dog and tap water DNA as human. Then the company produced hundreds of false positive COVID-19 test results. – The Gardner News

After coming under investigation three times for quality control problems, consumer genetics company Orig3n last spring was allowed to administer COVID-19 tests in several states. By summer the Boston company halted testing in Massachusetts after producing hundreds of false positive test results.

Bailey the dog would likely be a skilled basketball player or boxer. Ginger the dog would probably experience mild trouble learning to read. And a few drops of kitchen sink tap water might need longer to develop skills required for language learning.

Those were a few of the findings of consumer genetics tests conducted by Boston-based startup Orig3n, a company that promises to tell customers how their DNA makeup could influence everything from cognitive abilities to sleep needs.

In all three cases, the company failed to identify the nonhuman samples sent to its labs by customers skeptical of Orig3ns products.

By the time the Massachusetts Department of Public Health received its second complaint in September 2018 about Orig3ns inability to identify canine DNA as nonhuman, a complaint that was also sent to the U.S. Food & Drug Administration, the company had already generated red flags at state and federal agencies tasked with ensuring labs that test human samples are operating properly starting in 2016, according to hundreds of pages of documents obtained by Gannett New England in a public records request.

Yet, in the spring, as COVID-19 spread across Massachusetts with fatal consequences especially among residents of long-term care facilities the FDA gave Orig3n an emergency authorization to perform coronavirus tests, and the DPH and the Centers for Medicare & Medicaid Services gave the company permission to add virology and immunology as specialties.

The DPH even recommended Orig3n as a testing option to nursing homes struggling to contain deadly coronavirus outbreaks across the state.

By August, however, the company had halted its COVID-19 testing operation when it was investigated once more, this time after DPH staff noticed Orig3ns lab was putting out an usually high number of positive coronavirus test results.

DPH investigators later found the company sent out at least 383 false positive COVID-19 test results to patients across the state between July 30 and Aug. 2. The false results put patients in immediate jeopardy, according to the DPH.

On Oct. 2, the Centers for Medicare & Medicaid Services sent a letter to Orig3n's lab director informing him the agency suspended the company's certificate to operate a clinical lab, and that it recommended a full revocation of that certificate. Orig3n has a right to appeal the decision within 60 days.

DPH investigators found serious deficiencies in the Boston-based labs coronavirus testing operation, some of which mirrored quality control issues found during previous investigations in 2018 and 2019.

But the pandemic offered an opportunity for Orig3n to fill a gaping need for increased COVID-19 testing capacity across the nation.

When COVID-19 became a public health crisis, Orig3n CEO Robin Smith wrote in an email to Gannett New England on Tuesday, we decided to dedicate our resources to providing testing for high-risk and high-need populations across the country, including school students and faculty, nursing home residents and staff, and private and public employers.

Smith did not answer a question about why the company was qualified to conduct coronavirus testing in light of its history of lab violations.

Investigations begin

Centers for Medicare & Medicaid Services, which enforces federal regulations for clinical labs testing human samples, first investigated Orig3ns Massachusetts lab on Jan. 31, 2018.

While documents dont say what prompted the investigation, they show a federal surveyor found a litany of deficiencies at Orig3ns Waltham lab, which the company had recently acquired.

The surveyor found the lab didnt have a system in place to ensure test results and other patient-specific information were accurately and reliably sent to their final destinations. The lab also failed to show that a legally authorized person made requests for the genetic tests processed by Orig3n.

Four months later, shortly after the company told federal regulators it had corrected deficiencies outlined in the January investigation, the Massachusetts DPH sent its own surveyor to inspect the companys lab operation, according to DPH documents.

The DPHs May 2018 investigation was sparked by a May 2, 2018, report by NBC 5 in Chicago. The news organization sent dog DNA to similar at-home genetic testing companies and found that Orig3n was the only company not to flag the dog sample as unreadable.

The DPH surveyor ultimately concluded that Orig3n had corrected issues with its testing process when it underwent the Clinical Laboratory Improvement Amendments (CLIA) certification established by the Centers for Disease Control and Prevention, which occurred after NBC 5 sent the dog DNA for processing. The surveyor concluded no further action was required.

Quality control lacking

In 2019, Centers for Medicare & Medicaid Services sent out another surveyor for the third investigation of Orig3n by lab regulators in two years.

The surveyors visit came shortly after Bloomberg published an article in which 17 former Orig3n employees alleged the companys consumer genetic testing kits which ranged in price from $29 to $298 sometimes failed to work as advertised and were often contaminated or inaccurate.

The surveyor found a long list of quality control issues at the lab, which had by then moved from Waltham to Bostons Seaport after scoring millions of dollars in venture capital from backers. One of those backers, LabCorp, operates one of the largest clinical lab networks in the world.

Echoing findings by previous investigators, basic records were inaccessible or missing, including reports that showed equipment and instruments were properly maintained and tested according to manufacturer guidelines. The surveyor also found the lab had failed to ensure that the temperature of refrigerators and freezers that contained patient samples and reagents were monitored and logged, a key protocol for making sure testing functions correctly.

Roughly four months after Orig3ns lab director told regulators the company had corrected or would correct the issues identified in the 2019 investigation, the FDA sent a letter notifying the company it was approved for inclusion under an umbrella Emergency Use Authorization to conduct certain types of COVID-19 testing.

In a press release announcing the news, Orig3n said the company's coronavirus testing would be available to authorized health care providers and institutions nationwide.

FDA spokesperson Jim McKinney told Gannett New England on Tuesday the agency authorizes tests, not labs.

Qualifying a lab as CLIA certified would be a function of the Centers for Medicare & Medicaid Services, McKinney wrote in an email.

A Centers for Medicare & Medicaid Services spokesperson told Gannett New England on Wednesday that the FDA has sole authority to issue emergency authorizations, but as a CLIA-certified lab, Orig3n was authorized to conduct high-complexity testing.

The spokesperson also said the agency affords labs due process and an opportunity to address allegations of noncompliance. When Orig3n began COVID-19 testing, the spokesperson said, the Massachusetts DPH had deemed the lab fully compliant.

In May, both the Massachusetts DPH and Centers for Medicare & Medicaid Services concluded after offsite surveys that the company could add virology and immunology as specialties. The agencies found the company was in full compliance with applicable state licensure and CLIA requirements.

In statements to Gannett New England, spokespeople for both Centers for Medicare & Medicaid Services and the DPH said offsite approvals for the addition of specialties to CLIA-certified labs are standard procedure. Usually the surveys involve a desk review of documentation including procedures, personnel qualifications and training.

With approvals in place, Orig3n began conducting coronavirus testing across Massachusetts, and offering its COVID-19 testing services in other states.

In a memo to nursing homes last updated on June 1, the DPH recommended the companys testing services to long-term care facilities sprinting to meet a May 25 deadline to test 90% of residents and staff for the virus. The company would eventually conduct coronavirus testing for at least 60 nursing homes statewide, most of which were dealing with deadly outbreaks.

Test results prompt fourth investigation

Records show federal regulators visited Orig3n twice in August 2020 after the company reported an unusually high number of positive COVID-19 test results. Earlier in the month, the company voluntarily agreed to halt COVID-19 testing.

On Aug. 8, Sandra Smole, director of the Massachusetts State Public Health Laboratory, sent an email to public health leaders in other states alerting them about Orig3ns high rate of positive COVID-19 tests. Smole classified the email's importance as "high" and sent it to public health officials in California, Michigan, Ohio and North Carolina, as well as the Association of Public Health Laboratories.

"The Orig3n Inc. Laboratory Director indicated that they also test specimens from your jurisdiction, and so we wanted to make you aware of this situation," Smole wrote. "At this time, we have no specific information indicating that samples from your state have been impacted."

DPH documents did not indicate if there were problems with Orig3n COVID-19 test results in other states.

On Aug. 26, the Massachusetts DPH Division of Health Care Facility Licensure and Certification finished its investigation into Orig3ns coronavirus testing operation, which found dangerous deficiencies in how the lab conducted its work.

According to the report, the lab failed to document basic sanitation measures, including the daily sanitizing of lab benches and equipment used in COVID-19 testing. The labs system for detecting potential errors in test results was inadequate, and lacked controls that would detect contamination.

Both Orig3ns lab director and its CEO confirmed in interviews with investigators that, while the lab tracked daily positivity rates, it failed to assess or correct any problems flagged by higher than normal positivity rates.

The report also slammed Orig3ns lab director for failing to provide overall management and direction, which meant the director was unable to ensure the accuracy and reliability of patient test results.

Orig3n began coronavirus testing on April 27. Before it suspended COVID-19 testing in early August at the states request, the company had reported 23,513 results.

The Massachusetts DPH ultimately found the company sent out at least 383 false positive results to patients, according to agency documents, but because not all test samples processed by Orig3n were retested, that number could be higher.

Its also unknown how many false negative coronavirus test results the company released to people, because false negative test results are harder to detect than false positives.

The DPH told Orig3ns lab director in a Sept. 4 letter that the companys deficiencies posed immediate jeopardy to patient health and safety, meaning the lab caused, was causing, or was likely to cause serious injury or harm, or death, to individuals served by the laboratory or to the health and safety of the general public.

Orig3n has not yet restarted coronavirus testing, according to Orig3ns CEO. The company is waiting for resolution of our regulatory discussions with CMS (Centers for Medicare & Medicaid Services) and the state of (Massachusetts), Smith said in a statement to Gannett New England.

In an interview for a previous story by Gannett New England about the DPHs investigation into Orig3ns coronavirus testing, Dr. Michael Mina, an assistant professor of epidemiology at Harvard T. H. Chan School of Public Health who has experience running laboratories, said mistakes do happen at labs, but they don't usually require an investigation.

It's just important to keep all these things in check, Mina said in September. The frenzy to do coronavirus testing has been so extreme. I don't think labs should be immediately shut down for mistakes, but we have to remain vigilant to ensure that all the testing that is being done is up to the highest standards.

Jeannette Hinkle and Trevor Ballantyne are reporters for Gannett New England.

Dive deeper into the companys history in this timeline:

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Orig3n analysis IDd dog and tap water DNA as human. Then the company produced hundreds of false positive COVID-19 test results. - The Gardner News

Hidden cause of cardiac arrests uncovered in perfectly healthy hearts – Sydney Morning Herald

Had these survivors never been genetically tested they would not have known why they had suffered a near-fatal arrest or that their families were also at risk, senior author, and director of RPAs Genetic Heart Disease Clinic Professor Chris Semsarian said.


"These are young people some in their teens and 20s who on a particular day had a cardiac arrest and for so long we didnt know what the reason was," he said.

"You can do every test under the sun and you dont find anything wrong with their heart. It looks normal, but it carries genetic mistakes."

Without genetic testing, any medical team may come to the conclusion a cardiac arrest was likely to be a freak event, requiring no ongoing treatment, leaving patients vulnerable to a possibly fatal second attack.

The genetic testing was detecting "concealed cardiomyopathies", and could be used as an early-warning system that the hearts electrical system was short-circuiting.

The study authors suspect patients such as James Medway will develop outward signs of cardiomyopathy years later, such as an enlarged or thickening of the heart.

"This is precision medicine in action using genetics to pinpoint the precise cause of the disease, screen their families and find targeted treatments that may be as simple as lifestyle changes or medication or it may be an implanted defibrillator, but its all geared towards preventing sudden death in the future," Dr Semsarian said.

Mr Medway was in peak physical condition "fantastically fit", the Olympic rowing hopeful says as he trained at the Australian Institute of Sports training centre in northern Italy in 2019.

Then he blacked out.

When he was roused from an induced coma two days later, his teammates had to fill him in.

The 27-year-old had finished his warm-down after intense training. Just as he unstrapped his feet from a rowing machine he collapsed, hitting his head on the ergometer.

"It was such a pivotal, live-or-die moment," Mr Medway said.

James Medway, now 28 years old, in Hyde Park, Sydney. Credit:Louise Kennerley

The rower knew he was lucky. Had he been training on the lake, had one of his teammates a doctor not immediately suspected his heart and not his head injury was the critical concern, and the medical team not been nearby with a defibrillator, he could have died.

But after exhaustive testing, his heart looked normal for an elite athlete slightly on the larger side, and healthy. Within a week, he was fitted with an implantable cardioverter-defibrillator and less than two months later he was back training.

"There was a chance this was just a freak accident and I definitely still had the dream of getting to the Olympics and winning a medal," he said.

But Professor Semsarian, one of Mr Medways doctors, knew there was a small chance the episode had a genetic cause. Testing confirmed it.

Mr Medway had arrhythmogenic cardiomyopathy linked to a genetic mutation, which is estimated to affect one in 5000 people, most of whom never have a cardiac episode.

But elite-level sport was out of the question.

"It was a lot to take in," Mr Medway said. "I prided myself on being a really fit and healthy person, and the fact that I never got sick or injured. Now something I excelled at was no longer good for me.

Roughly 33,000 Australians have a sudden cardiac arrest every year; 9 per cent survive. The vast majority of cases are people over 35 with coronary heart disease and well-established risk factors like smoking and high blood pressure.

Younger patients with these unexplained cardiomyopathies are uncommon, and most can avoid having one of these near-death experiences. But for those who do, the ramifications can be tragic.

"Looking back, it would be very easy to slip into the mentality where everything I was working towards has been taken away but Im so lucky to have had that experience," said Mr Medway, who has launched into a career he loves as an investment banking analyst.

The scientists have so far genetically tested 11 first-degree relatives of survivors. Five had the same inherited genetic mutations and six were given the relieving news that they did not, the International Journal of Cardiology reported.

Dr Isbister said genetic testing could provide the answers when all other causes have been excluded, but guidelines written about a decade ago dont support this approach.

"What we have seen here is that there is perhaps more utility for patients with no clinically identified causes to have genetic testing now that our knowledge of cardiac arrest and genetics has advanced and we can cast a wide [genetic testing] net to get answers for patients," she said.

The authors suggested all sudden cardiac arrest survivors under the age of 50 could have an assessment to determine whether genetic testing was warranted.

Professor Jason Kovacic, executive director of the Victor Chang Cardiac Research Institute, said the research showed the benefits of comprehensive genetic testing.

"It does indicate that we can potentially save lives here," he said.

But the single-centre study of 36 patients was not likely to be enough to alter diagnostic practice, he said.

"Its a challenge to recruit thousands of patients because while always a tragedy this is relatively uncommon in our community," Professor Kovacic said.

"Whether this will tip the scale to make [cardiology] committees change their guidelines is yet to be determined."

Kate Aubusson is Health Editor of The Sydney Morning Herald.

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Hidden cause of cardiac arrests uncovered in perfectly healthy hearts - Sydney Morning Herald

Hereditary Testing Market Size, Market Research and Industry Forecast Report, 2020-2026 (Includes Business Impact of COVID-19) – Eurowire

Trusted Business Insights answers what are the scenarios for growth and recovery and whether there will be any lasting structural impact from the unfolding crisis for the Hereditary Testing market.

Trusted Business Insights presents an updated and Latest Study on Hereditary Testing Market. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Hereditary Testing market during the forecast period.It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

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Industry Insights, Market Size, CAGR, High-Level Analysis: Hereditary Testing Market

The global hereditary testing market size was valued at USD 5.8 billion in 2019 and is projected to register at a CAGR of 6.3% during the forecast period. The expanding reproductive genetic health space is one of the key market drivers. Key players, such as Natera, have reported a continuous increase in test volumes in womens health genetic testing for inherited conditions. This reflects the growing acceptance of hereditary tests among the population, thereby accelerating the revenue growth.Furthermore, a consistent rise in demand for newborn screening has led to an increase in sales of DNA testing kits. For instance, in November 2019, the Division of Consolidated Laboratory Services (DCLS) of the Virginia Department of General Services screened 7,868 newborns for nearly 31 hereditary and metabolic disorders. Increasing penetration of newborn screening across the globe is further aiding in the revenue growth.

Reforms in genetic testing guidelines have led to inclusion of multigene panel testing for hereditary cancer into clinical practice. The National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines) for breast, ovarian, and colorectal cancers offers information on some of the cancer risk factors and management recommendations for single and multiple gene panels.Gradual developments in the distribution model is likely to benefit the genetic testing market. Technology providers are playing a crucial role in the market growth by improving their distribution service and increasing the efficiency of technology. Companies are using a cloud-based distribution model to make bioinformatics technology available for use by other laboratories. As of March, 2019, around 14 licensees were using Constellation software commercially for the marketing of Non-invasive Prenatal Testing (NIPT) products.Although these hereditary tests have huge advantages over conventional tests, several industry experts cited the cost and security concerns faced by consumers pertaining to the test. Moreover, lack of effective regulation of the tests is another key area that demands focused efforts. Despite these challenges, the genetic testing market is constantly expanding owing to the advantages of these innovative tests along with improved healthcare outcomes.DiseaseType Insights of Hereditary Testing Market

Product and service offerings with regard to various hereditary cancer testing continue to expand. Entry of major players, such as Quest, in this segment in the recent past, has significantly driven the hereditary testing market. Considering breast cancer genetic testing as a lucrative source of revenue, companies are focusing on business strategies to enhance their presence in this segment.One of the strategies is offering hereditary tests at a price lower than that offered by competitors. For instance, Color Genomics began selling its product for USD 259, whereas similar products offered by Myriad cost around USD 4,000. The increasing affordability of the tests is one of the key drivers of this segment. Furthermore, BRCA1 carriers have an 80% risk of developing breast cancer, which has also accelerated the developments in hereditary cancer testing market.

On the other hand, lung cancer is one of the major cancer forms that has a relatively few number of products. This is because most cases of lung cancer are not related to inherited genetic mutations. Similarly, for cervical cancer, most of the cases are caused by Human Papilloma Virus (HPV) and not genetic mutations. Lack of effective evidence over heritability of cervical cancer are driving the research activities in this market.Prenatal testing, irrespective of the associated risks, is increasingly gaining popularity. The cell-free DNA (cfDNA)-based NIPT testing is considered medically necessary by Anthem Blue Cross and Blue Shield of California. Previously, these players promoted cfDNA-based NIPT testing for trisomys 21, 18, and 13 only in high-risk pregnancies, as determined by maternal age and other factors.

Regional Insights of Hereditary Testing Market

Variations in regulatory frameworks pertaining to genetic tests across the world have significantly impacted the approval and commercialization of tests in the global market. Currently, a wide variety of genetic tests are being provided by several key companies in U.S. as well as several countries in Europe, Asia Pacific, and other regions.Europe accounted for the largest share in terms of revenue in 2019 and is likely to continue its dominance during the forecast period. This can be attributed to presence of key players providing genetic tests, high adoption of advanced treatments, and recommendations provided by government agencies to ensure the quality of hereditary testing services.In September 2019, Blueprint Genetics, a Finnish company, partnered with ARCHIMEDlife, a rare disease diagnostics company, to provide biochemical testing for rare diseases in North America. Through this partnership, both firms planned to diversify their range of genetic disease testing services to serve the customers better. Such initiatives are expected to strengthen the genetic testing scenario for hereditary disorders in North America, thereby accelerating regional revenue generation.

Market Share Insights of Hereditary Testing Market

Understanding the role of genetic mutation in disease occurrence has significantly accelerated the R&D in this market. Various retrospective studies are being carried out to understand the role of inherited mutations in disease pathology, which has led to key diagnostic developers, such as Quest Diagnostics, enter the market. Continuous authorizations and approvals of genetic tests by the government is expected to propel the organic revenue growth of operating companies.Some of the key players engaged in offering services and products in this market are Myriad Genetics, Inc.; Invitae Corporation; Illumina, Inc.; Natera, Inc.; Laboratory Corporation of America Holdings; F. Hoffmann-La Roche Ltd; Quest Diagnostics Incorporated; CooperSurgical, Inc.; Agilent Technologies, Inc.; Thermo Fisher Scientific, Inc.; Twist Bioscience; Sophia Genetics; Fulgent Genetic, Inc.; Medgenome; and CENTOGENE N.V.Furthermore, the expanding product portfolio is indicative of growing competition in the market. Each company is making focused efforts to offer products with competitive advantage. For example, cross-selling efforts by Natera helped the company witness lucrative revenue generation over the past years. The company promotes collective use of Horizon and Panorama products for women who have not undergone carrier screening tests in their first trimester.

Segmentations, Sub Segmentations, CAGR, & High-Level Analysis overview of Hereditary Testing Market Research ReportThis report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2015 to 2026. For the purpose of this study, this market research report has segmented the global hereditary testing market report on the basis of disease type and region:

Disease Type Outlook (Revenue, USD Million, 2019 2030)

Hereditary Cancer Testing

Lung Cancer

Breast Cancer

Colorectal Cancer

Cervical Cancer

Ovarian Cancer

Prostate Cancer

Stomach/Gastric Cancer



Uterine Cancer

Pancreatic Cancer


Hereditary Non-cancer Testing

Genetic Tests

Cardiac Diseases

Rare Diseases

Other Diseases

Newborn Genetic Screening

Preimplantation Genetic Diagnosis & Screening

Non-invasive Prenatal Testing (NIPT) & Carrier Screening Tests

Looking for more? Check out our repository for all available reports on Hereditary Testing in related sectors.

Quick Read Table of Contents of this Report @ Hereditary Testing Market Size, Market Research and Industry Forecast Report, 2020-2026 (Includes Business Impact of COVID-19)

Trusted Business InsightsShelly ArnoldMedia & Marketing ExecutiveEmail Me For Any ClarificationsConnect on LinkedInClick to follow Trusted Business Insights LinkedIn for Market Data and Updates.US: +1 646 568 9797UK: +44 330 808 0580

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Hereditary Testing Market Size, Market Research and Industry Forecast Report, 2020-2026 (Includes Business Impact of COVID-19) - Eurowire

As genomic testing increases, it is time to focus on post test care for patients – The BMJ – The BMJ

It is time for genetics services to rethink where they are focusing their resources, argue two genetic counsellors with experience of working in NHS specialist genetic services, research, and policy

Genomic testing is increasingly a part of mainstream healthcare and is positioned high on the political agenda (Chief Medical Officers Report 2017,EU Commission). A recent UK government report (Genome UK) and previous announcements by Matt Hancock, the Secretary of State for Health and Social Care, have raised the profile of genomics as a technology offering significant benefits to patients in terms of predicting and diagnosing disease, as well as personalising treatments. Initiatives such as the 100,000 Genomes Project, changes in the delivery of laboratory genetic services in the NHS in England, and the launch of the new NHS Genomic Medicine Service, mean that genomic technology is here to stay.

Commentators have raised concerns about the benefits of such testing in healthy individuals, and the problems for clinical services left to pick up the pieces by consumers who have accessed genetic testing directly (RCGP 2019). These issues are entirely relevant, and authors rightly argue for caution in widespread implementation of genomic technologies where they may not be clinically relevant. Legal cases have also highlighted ethical tensions between who has a right to know or withhold genetic information (Middleton A et al 2019).

We want to change the focus and raise some issues around the care of patients with rare genetic diseases and their families.

Access to clinically relevant genomic testing for these families is easier than it has ever been before. It means there will be a reduction in the diagnostic odyssey, shortening the time between initial suspicion of a genetic disorder to confirmed diagnosis. New disease mechanisms and classifications will emerge. More patients will have an explanation as to the cause of their own condition and any familial implications. More parents will have an explanation of their childs condition and the possible chances of it happening again in future children.

Access to genomic testing is pivotal for families with rare diseases, but the focus of clinical care should move beyond just access to the test itself to include the post-test consequences. By this we mean offering support for patients coming to terms with diagnosis of a rare genetic disorder and managing the information the genetic result gives in relation to immediate care and potential choices, as well as the care of family members and future generations. The current pandemic has also had a significant impact on families living with rare disease. (Genetic Alliance. Family story: thoughts on Covid-19).

In the short to medium term the contribution genomics makes to medicine will mostly happen within the field of rare genetic diseases. As stated in many policy documents, rare diseases may be individually rare, but as a group they affect 1 in 17 of us, which means genomic testing is relevant to a significant proportion of patients using health services.

As diagnostic genomic testing increases, all these patients and their families will need healthcare directed at mediating the consequences of diagnoses that are made or recognised. In a global healthcare service with limited availability of genetic health professionals (Abacan 2019) it is time to push existing resources to where they are needed most.

We already know from various reports that families with rare diseases face many difficulties in managing their complex care (EURORDIS,All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions). We also know from anecdotal experience and research that the following are very relevantthe lifelong nature of genetic disorders, the fact that they may affect many different body systems requiring holistic coordination of care, and the fact that they may have intergenerational consequences and risks. All present challenges for the way health systems are currently constructed and care is delivered.

Traditionally, genetic services and genetic counselling have been focused on the test. This has been enshrined in various international guidelines and instruments, with some countries mandating genetic counselling before people are able to access a genetic test (Kalokairinou et al 2017). As the availability of genomic testing increases, it is time to question where genetic services could be focusing their resources.

Decisions around proceeding with a genomic test in pre-test counselling include many facets that are well-rehearsed in clinical practice. For example, who is chosen for testing, who has access to the test result, consent choices, and the challenges of interpreting and communicating the results. Once clinically relevant genetic analysis is a routine part of diagnostic pathways in mainstream medicine, the focus of genetic counselling needs to shift from the pre-test phase to post-test care. This requires genetic services and genetic health professionals to question custom and practice, to consider what is necessary and useful and what is no longer fit for purpose.

This will require a shift in thinking within the clinical genetics community. We are letting patients and families down if we do not put as much emphasis on their care after genomics analysis as we currently put on it before. Constrained NHS resources means we must be flexible, consider how to do things differently and let go of past practices and service models to explore new ways of working.

Christine Patch has 40 years experience as a nurse and registered genetic counsellor. She is principal staff scientist for genomic counselling at the Society and Ethics Research Group, Wellcome Genome Campus, Connecting Science, Cambridge, and lead genetic counsellor for Genomics England.

Anna Middleton has 26 years experience as a registered genetic counsellor and social science researcher. She is head of society and ethics research at Wellcome Genome Campus, Connecting Science, Cambridge, and has personal experience as a patient in the 100,000 genomes project.

Competing interests: None declared.

This work was supported by Wellcome grant [206194] paid to Society and Ethics Research Group via Connecting Science, Wellcome Genome Campus. AM receives personal fees as a member of the Ethics Board for the patient company RareMark. CP is employed by Genomics England a company wholly owned by the Department of Health & Social Care.

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As genomic testing increases, it is time to focus on post test care for patients - The BMJ - The BMJ

Stay Tuned with the Epic Battle in the DirectToConsumer Genetic Testing Market – TechnoWeekly

The Global DirectToConsumer (DTC) Genetic Testing Market is broadly and deeply studied in the report with a key focus on the competitive landscape, regional growth, market segmentation, and market dynamics. We have used the latest primary and secondary research techniques for compiling this comprehensive research study. The report offers Porters Five Forces analysis, PESTLE analysis, competitive analysis, manufacturing cost analysis, revenue and production analysis, and various other types of analysis to provide a complete view of the global DirectToConsumer (DTC) Genetic Testing Market. Each segment of the global DirectToConsumer (DTC) Genetic Testing market is carefully analyzed on the basis of market share, CAGR, and other vital factors. The global DirectToConsumer (DTC) Genetic Testing market is also statistically presented with the help of Y-o-Y growth, CAGR, revenue, production, and other important calculations. The report presents the market competitive landscape and consistent in-depth analysis of the major vendor/key players in the market along with the impact of economic slowdown due to COVID.

Global DirectToConsumer (DTC) Genetic Testing market competition by top manufacturers, with production, price, revenue (value) and market share for each manufacturer;

the top players including

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On the basis of product, this report displays the production, revenue, price, market share, and growth rate of each type, primarily split into

On the basis of the end users/applications, this report focuses on the status and outlook for major applications/end users, consumption (sales), market share and growth rate for each application, including

Key questions answered in the DirectToConsumer (DTC) Genetic Testing Market report by the research study:

What impact does COVID-19 have made on DirectToConsumer (DTC) Genetic Testing Market Growth & Sizing?

What will be the behavior of market participants?

What strategies will market players adopt to sustain their growth?

Which segment will lead the market?

Which region will offer the most number of opportunities?

What are the key drivers, restraints, and trends of the market?

What will be the market size between 2019 and 2025?

Our report includes ongoing and latest market trends, company market shares, market forecasts, competitive bench-marking, competitive mapping, and in-depth analysis of key sustainability tactics and their impact on market growth and competition. In order to estimate the quantitative aspects and segment the global DirectToConsumer (DTC) Genetic Testing market, we used a recommended combination of top-down and bottom-up approaches. We studied the global DirectToConsumer (DTC) Genetic Testing market from three key perspectives through data triangulation. Our iterative and comprehensive research methodology helps us to provide the most accurate market forecasts and estimates with no to minimum errors.

Industry Matrix Analysis of DirectToConsumer (DTC) Genetic Testing Market:

As part of our quantitative analysis, we have provided regional market forecast by type and application, market revenue forecasts and estimations by type, application, and region up to 2025, and global DirectToConsumer (DTC) Genetic Testing market revenue and production forecasts and estimations up to 2025. For qualitative analysis, we have concentrated on policy and regulatory scenarios, component benchmarking, technology landscape, key market issues, and industry landscape and trends.

We have also focused on technological edge, profitability, business size, company strengthens in relation to the industry, and analysis of products and applications in terms of market growth and market share.

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Table of Contents:

Report Overview: It covers the scope of the research study, companies profiled in the report, objectives of and years considered for the research study, and highlights of type, application, and regional segmentation. As part of the highlights of segmental analysis, this section discloses growth rates and market shares of segments.

Executive Summary: It includes analysis of the global market size, the market size by region, and industry trends. Under market size by region, this section concentrates on growth rates and DirectToConsumer (DTC) Genetic Testing market shares. Under industry trends, it focuses on market use cases and top trends of the market.

Key Players: Here, revenue by manufacturer, funding and investment analysis by player, expansion plans, mergers and acquisitions, and company establishment dates are included.

Geographical DirectToConsumer (DTC) Genetic Testing Market Analysis: This part of the report assesses key regional and country-level markets on the basis of market size by type and application, key players, and market forecast.

Profiles of International Players: All of the companies profiled in this section are deeply evaluated, keeping in view their prices, gross margin, revenue, sales, and core and other businesses. This section also gives company details, a business overview of players, and other information.

DirectToConsumer (DTC) Genetic Testing Market Dynamics: Here, the report provides supply chain analysis, regional marketing analysis by type and application, and analysis of market drivers, restraints, and opportunities.

Appendix: It includes author details, a disclaimer, data sources, research approach, and research methodology.

Breakdown by Type, Application, and Region

Key Findings of the Report

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Stay Tuned with the Epic Battle in the DirectToConsumer Genetic Testing Market - TechnoWeekly

Focusing on the Future of Genetic Testing in Oncology – OncLive

Germline genetic testing is essential in order to identify optimal treatments for patients with cancer, as well as detecting inherited mutations via cascade testing that could affect family members, according to John M.Carethers, MD, MACP, who emphasized that improvements to genetic testing technology and testing costs has increased not only the accuracy of, but access to these assays.

The technology in sequencing has moved from the old gels to capillary to ChIP [chromatin immunoprecipitation]-based, and has revolutionized the way we approached it. The depth of [genetic testing] coverage [has evolved], said Carethers. Sequencing technologies totally revolutionized this [process].

He added, There are some unusual situations in which additional technologies have to be used to figure out some of the ones that typical ChIP technologies don't fully explain. That has markedly changed the way we approach [testing] these days.

In an interview withOncLiveduring the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Carethers, a professor of Internal Medicine and Human Genetics at the University of Michigan, discussed recent developments in multi-gene panel testing.

OncLive: How are predictive and somatic genetic tests being utilized in clinical practice?

Carethers: In terms of germline testing, the benefit is knowing which disease you carry, and that information can also spread to other family members to understand whether they [are at an increased risk of getting a cancer diagnosis]. Sometimes, at least in my experience, [germline testing] does alleviate some anxiety. Some people get more anxious once they know they have a germline mutation, but in general, it does at least explain the reason why they're seeing certain diseases in the family. Thats the general benefit for germline testing.

The benefit of somatic testing is knowing the type of mutations that occur in the tumor; there may be a therapeutic drug or compound that is in current use that could benefit the patient. For instance, I had a patient with unresectable esophageal cancer. She was dying and her esophagus was almost completely obstructed with the tumor. She had a feeding tube put into her stomach and lost a lot of weight; she was literally counting out the days until she died. With some thought, we decided to take a sample of the tumor and do somatic testing.

She had some mutations that werent typically found in esophageal cancer, and we did have drugs [to treat her]. She was actually put on those drugs and the tumor shrunk dramatically to the point that she could eat again, she gained weight, and she lived another 5 years. Normally, she wouldn't have lasted more than a few months. The benefits of somatic testing is understanding the genetic makeup of the tumor in which you might be able to use some compounds that exist to benefit the patient. Thats the real goal of somatic testing.

There is an unusual situation for somatic testing, as well. For instance, in colon cancer, we know about Lynch syndrome, but there is also a Lynch-like syndrome. In Lynch-like syndrome, there is no germline [mutation], but the tumor has 2 somatic mutations of a mismatch repair deficient tumor. They can look like a Lynch syndrome tumor, and maybe even behave a little bit like a Lynch syndrome tumor, but they're really not caused by a germline mutation. Sometimes, somatic genetics can help us understand tumor genesis as well as ways to treat the tumor.

What changes have we seen recently in multigene panel testing? How are test results interpreted and how do they help guide treatment strategies?

There are patients who will walk in with the classic phenotype and then there are patients walking in who don't have the classic phenotype, yet they carry that mutation in the same gene. Multigene testing allows us to account for phenotypic variation.

Someone may walk in with colon cancer, the next person in the family might walk in with endometrial cancer, and the next person in the family may walk in with a skin tumor, but they all line up with the same mutation in Lynch syndrome. However, if you saw the skin tumor first, would you have thought of Lynch [syndrome]? [What about] if you saw the endometrium or the colon cancer? It depends on the specialty and the type of disease presentation they show up with. In many cases, though, the disease could be subtle.

For instance, there was a family I followed, which comprised the grandmother, mother, and daughter. The grandmother, who was well into her late 60s, had a Lynch syndrome mutation and got her colon removed appropriately. The mother was in her 40s with no cancers, but the daughter who was 21, developed colon cancer. It looked like it skipped a generation, yet, they all carry the same mutation. There's phenotypic variation, even with this exact same mutation in the family, because we're all genetically different to some, so there's probably modifiers and other things going on. However, if I can see that in this one family who I know [harbor that specific] mutation [then I know that] if multiple people walk into the clinic and have variations in their family histories and in their personal history of cancer, that we are seeing a wide phenotypic variation.

Now, instead of testing 1 gene at a time, we will test 30 or 50 genes at a time, and you can pick up some of these less penetrant genes that are causing the phenotypic variation. Sometimes there are major penetrant genes in these families.

What other barriers to germline testing need to be addressed?

We're always learning. Every year or so we add a few more genes to our repertoire and then, maybe they get on some of these panels. E3 ubiquitin ligase WWP1 is associated with PTEN hamartomatumorsyndrome, which is not on any panels, but the paper was published in the New England Journal of Medicine. We keep learning as we discover more and more of these genes. The more genes that we find tend to occur in less and less people, based on our current knowledge, but some of these patients present with these rare phenomena.

We're also finding out that some of these mutations arent specifically a change in the DNA sequencethere are methylation, or rearrangement, or even a deletion. You have to use other techniques in addition to sequencing to figure those families out or those families will be left in the lurch.

The downside of doing multigene panel testing is that now, if you push for more whole-exome and whole-genome sequencing, we have a lot more variants. One commercial lab got [results] back to me 2 months ago from a patient we had tested 4 years ago. They said, We finally have enough people [where we could determine that] his variant is not significant. It was good news. We are now more sure of variants because they now have more families in their database at the commercial lab. Sometimes it takes years to figure it out, unless we have functional analysis for all variants. Thats a big challenge right now.

Where do you hope to see the future of genetic testing head?

In a good way, genetic testing will probably [have a lower] cost and there [will be an] ease of doing it [with] whole-exome and whole-genome sequencing. It will even overtake panel testing over time because the machines are better and faster. The key, though, is having a database that you can go back and forth and analyze. Youre going to need the analytics and tools. What happens with the patient? Do I carry this [information] on a flash drive? Is it in a database I have to have access to?

It's not an easy answer and I'm not sure if the health system that a particular patient goes to is going to store all this information3 billion base pairs of informationand go back to it each time. Each place is going to have to have the right analytic tools to go back and [retrieve that information]. There are going to be some challenges with that, even though that's the way the technology is going.

The more challenging pieces [are related to] direct-to-consumer (DTC) testing. You don't always know what you're getting on those tests. We can test you for common diseases, such as diabetes and hypertension, but we also test you for BRCA1/2. In reality, very few of the DTC [tests] are doing sequencing or panel testing like we do clinically. Many of them are using single nucleotide polymorphisms (SNPs) that give you a suggestion. Many of these start from ancestry companies,and they recently moved into [testing for] these diseases because people are interested. I don't blame them for doing this, but the information they give might only [include] a fraction of the actual disease variants. If someone finds an SNP in BRCA1/2 or Lynch syndrome, you might need to see a doctor. [Based on your family history or phenotype,] we may have to send a ChIP test to verify [the results].

In some cases, people will test just to be curious, and they think they're going to have something, but there is zero evidenceno personal history and no family history. There are going to be some challenges with the DTC [testing] because we don't always know the type of test theyre getting and the information is not going to be as precise and could present challenges in the clinics. Some people are going to get upset because we're going to say, No, you don't need testing, or [patients will ask], Why does this test say I might have it but your test says I don't? We have to explain all this and those are going to be challenges.

What else would you like to add regarding the evolution of genetic testing?

There is phenotypic variability in the presentation of many of these syndromes. The standard now is multigenetic panel testing to try to assuage the phenotypic variation; we do pick up [genes in] people who we didn't necessarily think had that disease. I've been surprised too many times, so I'm not surprised anymore. A lot of these inherited conditions have phenotypic variability. If you have any suspicion or your primary care physician has any suspicion, feel free to send [a test] to our clinic because we can investigate that and do testing that's relatively cheap if there's a good cause to investigate that. It may save their life and the lives of their loved ones.

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Focusing on the Future of Genetic Testing in Oncology - OncLive

DNA Test Identifies Genetic Causes of Severe Fetal and Newborn Illness – UCSF News Services

A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ultrasound.

In the UC San Francisco-led study, scientists used a technique called exome sequencing to identify genetic diseases as the underlying cause in 37 of 127 cases of nonimmune hydrops fetalis (NIHF), a life-threatening condition in which the fetus is overloaded with fluid. The study was published online Oct. 7 in The New England Journal of Medicine (NEJM).

Corresponding author Teresa Sparks, MD, MAS, a UCSF assistant professor in the Department of Obstetrics, Gynecology & Reproductive Sciences, led the study with senior study author Mary Norton, MD, a professor in the same department. The cause of most cases of NIHF is not identified with standard testing, but when we apply exome sequencing, we find a genetic diagnosis in nearly 30 percent of cases of previously unknown cause, Sparks said.

NIHF affects about one in every 1,700 to 3,000 pregnancies in the United States and is associated with high risks of stillbirth, preterm birth, neonatal death and other complications. Although NIHF often leads to death, identifying the precise genetic cause is critical, as associated outcomes vary widely in severity.

NIHF can be a manifestation of many genetic diseases, but evidence of abnormal fluid accumulation in the fetus detected through an ultrasound exam whether it occurs under the skin, in the abdomen, or around the heart or lungs does not pinpoint an underlying cause.

Participants in the study were referred from throughout the United States after NIHF was identified with prenatal ultrasound but no underlying genetic disease was found using long established methods for detecting genetic abnormalities. These traditional genetic tests karyotype and chromosomal microarray analysis detect large abnormalities in chromosomes, not disorders caused by a defect in a single gene as are identified with exome sequencing.

Exome sequencing is the complete spelling out of the genetic code for DNA segments within the genome that serves as the blueprints for proteins. This has become possible to perform quickly and accurately in recent years, thanks to the continual refinement of technology that can sequence DNA strands that are thousands of nucleotide building blocks long, often in a massively parallel manner that helps ensure accurate results. Exome sequencing can identify even the smallest mutations, such as a change in a single building-block nucleotide base pair.

Importantly, many of the disorders identified in the study have not previously been reported in association with NIHF, so the findings broaden knowledge of genetic diseases that can present with the condition. Among the most common of 37 genetic disorders identified in the NEJM study were 11 cases affecting a key intracellular signaling pathway called RAS-MAPK, four cases of inborn errors of metabolism, four cases of musculoskeletal disorders, and three cases each of lymphatic, neurodevelopmental, cardiovascular and blood disorders. Many of these diagnoses would also have been missed by commercial gene panels, Sparks said.

Most mutations identified in the study newly arose in the fetus, but several were inherited, with the potential to affect future pregnancies with the same biologic mother or father.

There is a very wide range in genetic diagnoses underlying NIHF, and identifying the diagnosis is essential for families and healthcare providers, Sparks said. With advanced genetic testing, there is much more we can discover for families to help them understand the situation, for obstetricians and neonatologists to better take care of the pregnancy and anticipate the needs of the newborn, and ultimately to guide the development of novel prenatal management strategies such as in-utero therapies to improve health outcomes over the long term.

For some of the genetic disorders identified in the study, prenatal interventions that can improve or save lives already have been identified. For example, genetic causes of anemia in the fetus may be closely monitored, and the fetus may receive a blood transfusion if needed.

Similarly, for some of the inborn errors of metabolism identified in the study, enzyme therapies already are available after birth. Early diagnosis and treatment of these metabolic disorders leads to better outcomes. A co-author of the NEJM study, Tippi MacKenzie, MD, a professor with the UCSF Department of Surgery, is investigating in utero treatments for specific genetic disorders underlying NIHF in a new clinical trial. Sparks, Norton, and co-authors are also pursuing further investigations to identify additional genomic abnormalities underlying NIHF for the cases that remain unsolved.

Co-Authors: All co-authors of the NEJM study are affiliated with the University of California FetalMaternal Consortium or the UCSF Center for Maternal-Fetal Precision Medicine. Additional UCSF co-authors of the study include Billie Lianoglou, Sarah Downum, Sachi Patel, Amanda Faubel, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Jessica Van Ziffle, and Stephan Sanders.

Funding: The study was funded by the UCSF Center for Maternal-Fetal Precision Medicine, the Fetal Health Foundation, the Brianna Marie Foundation, Ultragenyx, and the National Institutes of Health.

The University of California, San Francisco (UCSF) is exclusively focused on the health sciences and is dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care.UCSF Health, which serves as UCSFs primary academic medical center, includes top-ranked specialty hospitals and other clinical programs, and has affiliations throughout the Bay Area.

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DNA Test Identifies Genetic Causes of Severe Fetal and Newborn Illness - UCSF News Services

Knowledge and Attitudes About Genetic Testing Among Black and White Women with Breast Cancer – DocWire News

This article was originally published here

J Racial Ethn Health Disparities. 2020 Oct 6. doi: 10.1007/s40615-020-00878-5. Online ahead of print.


Prior to embarking on a large descriptive evaluation of genetic/racial variations in symptom phenotype, we sought foundational information to determine racial differences in (1) feasibility (consent) and acceptability of collecting genomic samples, (2) genetic literacy, and (3) concerns of genomic research during breast cancer (BC) chemotherapy. Women with early-stage BC undergoing chemotherapy were recruited from an academic, urban breast care center. Information was collected for consent to participate, genetic literacy, and concerns about genetic testing in Black and White women with BC. Fifty-six women were eligible, and 48 were consented (24 Black, 24 White). All participants consented to blood testing. This highly educated samples mean age was 52.5 + 12.05 (years). Education (years) and genetic knowledge were positively correlated (p = .038). Genetic scores were high, and only one question significantly differed by race. On interview, most participants thought conducting genetic research helped to better understand hereditary disease and/or identify genes that cause disease and stated that they participated in the research to help other people. The majority of participants responded that friends/family would participate in genetic research without concerns, though three Black participants cited mistrust as a possible concern. Overall, there were high levels of genetic knowledge, slightly different between Black and White women. There were no high levels of personal concern regarding genetic testing. Black women reported more concern than White women that friends/family would have hesitations about participating in genetic research. There was general acceptability of blood collection for genetic testing among women with early-stage BC without racial difference.

PMID:33025420 | DOI:10.1007/s40615-020-00878-5

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Knowledge and Attitudes About Genetic Testing Among Black and White Women with Breast Cancer - DocWire News

HCA Houston Healthcare North Cypress offers preventative gene testing for breast cancer – Chron

When Dalyss Tomayer found out three of her relatives had had breast cancer, it was enough to qualify her for the genetic testing which showed she had a high risk of breast cancer herself.

Tomayer was able to discover the gene early due to getting tested at HCA Houston Healthcare North Cypress High Risk Breast Clinic, where they offer genetic testing for those who qualify to see if they may have the BRCA1 or BRCA2 gene which puts people at higher risk for breast cancer.

On Willowbrook breast cancer support group still meeting virtually

I had known for years that two of my dads sisters had breast cancer, and it was in speaking with one of my aunts that I then found out also one of my cousins had breast cancer, Tomayer said. So, it was at that time that I realize that I did qualified for the genetic testing and I decided to go ahead and do it.

Janet Pollard, the coordinator for the High Risk Breast Clinic, said the breast center began as a full program under HCA Houston North Cypress CEO Jim Brown, who she said was passionate about having this resource.

On Memorial Hermann rolls out breast cancer prevention program as screening rates plummet

Most of the time people think about genetic testing after you get cancer, Pollard said. It can drive the type of surgeries, it can change treatment regime, but basically its getting it done prior. Its screening people when they come in for their annual mammograms, talking with primary care doctors, educating them on what makes patients meet criteria.

Criteria established by the American Cancer Society for genetic testing includes people who were diagnosed with breast cancer at a younger age, those diagnosed with breast cancer a second time, people of Ashkenazi Jewish descent, people with a family history of breast cancer, ovarian cancer, pancreatic cancer or prostate cancer, and people with a known family history of BRCA mutation.

Before the pandemic, Pollard said the center was testing around 30 people a month, men and women, with about 10 percent of people testing coming back positive.

BRCA1 and 2 genes are huge red flags, Pollard said. Theyre the original genes and theyve been testing those genes for two decades.

The process Tomayer chose to go through after being tested was to have a double mastectomy to virtually remove all chance of breast cancer, as well as a hysterectomy to eliminate her chances of ovarian cancer.

Even though you do a double mastectomy, theres no way to get 100 percent of every breast cell in my body, so there is still a slight chance, but it is incredibly slight, she said.

Tomayer said she would continue to have ultrasounds for what remaining breast tissue she has left.

Im so very thankful they have the test, Tomayer said. It saved my life.

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HCA Houston Healthcare North Cypress offers preventative gene testing for breast cancer - Chron

Bionano’s Saphyr Plays Essential Role in Identifying Three Previously Unknown Genetic Mutation Types in Cancer in Study from Weill Cornell -…

SAN DIEGO, Oct. 08, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that its Saphyr system played a key role in a research study by Marcin Imielinski, M.D., Ph.D., Assistant Professor of Pathology and Laboratory Medicine at Weill Cornell Medical School, which was published in the peer-reviewed journal Cell. The study identified three new distinct classes of structural variations (SVs) in the DNA of thousands of cancer samples across multiple cancer types, and used Saphyr to characterize the precise structure and genomic location of these variations. These previously unknown types of complex rearrangements help explain different mechanisms that enable cancer cells to expand and grow rapidly while simultaneously evading natural defense mechanisms and treatment. With the addition of Bionanos Saphyr data, the study demonstrated that these structural variants generate a large number of fusion proteins and represent therapeutic targets and/or prognostic biomarkers of disease progression.

While cancer genomes traditionally have been studied with a combination of low-resolution cytogenetic methods or with next-generation sequencing (NGS), Bionanos Saphyr instrument provides long-range data that enables a high-resolution, long-range view into the cancer genome and cancer biology. At a presentation providing an update on the study given at the March 31, 2020 Advances in Genome Biology and Technology Conference, Dr. Imielinski explained how short-read data alone is unable to resolve the structure of these newly discovered structural variants because short reads provide a very local view of the genome, and further explained how integrating long-range data generated by Bionanos optical mapping technology was essential to obtaining a complete understanding of these structures, including their biological significance.

As previously announced, a high-profile paper published last month by UCSD Professor Vineet Bafna in Nature Communications similarly used a combination of NGS and Bionanos Saphyr data to resolve the structure of extra-chromosomal circular DNA, another type of complex rearrangement of the cancer genome which similarly allows for tumor cells to increase their growth rate while evading natural defenses. In both studies, only the combination of short-read sequencing technology with optical mapping data generated by Saphyr was able to fully resolve these complex structures and provide a comprehensive picture of the cancer genome.

We are impressed by this important body of work and the ingenuity from Dr. Imielinskis team," said Erik Holmlin, Ph.D., chief executive officer of Bionano Genomics. By combining NGS with Bionanos genome imaging data, they were able to discover, analyze and fully characterize these novel variants that were so large and complex that they were hidden in plain sight from traditional sequencing methods. We believe these studies help generate a rapid increase in understanding of the complexity of cancer genomes driven by the long-range data that only Saphyr can provide, with a cost and throughput that makes the analysis of large sets of cancer samples possible. Since many of the most effective anti-cancer drugs target specific fusion proteins, we believe the discovery of these novel structural variants and the many fusions they generate has the potential to guide the future development of new therapeutics, better cancer diagnostics and a more efficient use of existing cancer drugs.

The publication is available at

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, or

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: Bionanos contribution to understandings of extra-chromosomal circular DNA and structural variations in cancer, including its ability to influence improved use of existing cancer drugs or future development of better diagnostics and new therapeutics; Saphyrs capabilities in comparison to and in conjunction with traditional sequencing methods and NGS-based methods; and Saphyrs potential as an essential tool for personalized medicine and furthering understanding of cancer in the medical community. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858)

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617)

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617)

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Bionano's Saphyr Plays Essential Role in Identifying Three Previously Unknown Genetic Mutation Types in Cancer in Study from Weill Cornell -...

Ask the Expert: How is precision medicine used in cancer prevention? – WKRC TV Cincinnati

by Liz Bonis & Merby Curtis, WKRC

Experts at St. Elizabeth Healthcare are expanding programs to treat and prevent cancer. Its all part of a personal prescription for your future health. (WKRC)

EDGEWOOD, Ky. (WKRC) Experts at St. Elizabeth Healthcare are expanding programs to treat and prevent cancer. Its all part of a personal prescription for your future health.

For years, we have focused on early detection of cancer, which is important. But now, the new St. Elizabeth Cancer Center has an important focus on preventing cancer with the help of screening that also detects risk: a field commonly called precision medicine.

The new Cancer Center has several teams dedicated to making this happen. Medical oncologist Dr. Brooke Phillips explains how it all works together:

One of the first things in cancer is trying to prevent it. We already have a robust genetic counseling program, but were going to have a whole floor dedicated to that. Were seeing not only patients that have cancer, but patients that have a family history or concerns related to that and will provide them care, really, in regards of prevention. If that involves screening tests, prophylactic surgeries, we will also have that in there. We will also have precision medicine as related to a specific tumor and a lot of genetic related to that tumor and a lot of clinical trials surrounding that.

If you know you have a family history of cancer and would like to find out more information, you can start your prevention journey by calling the genetic testing area at 859-301-5396.

Keep in mind, as part of this they also have nutrition programs and much more to focus on prevention at the new Cancer Center in Edgewood.

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Ask the Expert: How is precision medicine used in cancer prevention? - WKRC TV Cincinnati

Taysha Gene Therapies Partners with Invitae to Enable Rapid Access to Genetic Testing and Earlier Diagnosis of Patients with CNS Disease for Rare and…

Detect Lysosomal Storage Diseases program reduces barriers to genetic diagnosis through sponsored testing for lysosomal storage disorders, including GM2 gangliosidosis

Behind the Seizure program can help accelerate genetic epilepsy diagnosis in children experiencing unprovoked seizures

Taysha Gene Therapies Inc. (Nasdaq: TSHA), a patient-centric gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system in both rare and large patient populations, today announced a partnership with Invitae, a leading medical genetics company, to support Invitaes Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs. The Detect LSDs program enables the rapid diagnosis of lysosomal storage disorders (LSDs), including GM2 gangliosidosis (also known as Tay-Sachs and Sandhoff disease). The Behind the Seizure program is an innovative, cross-company collaboration that supports faster diagnosis for children with epilepsy. The Behind the Seizure program will also support patient identification across Tayshas broad pipeline of gene therapies for which a number of indications have an underlying seizure phenotype.

"Through both initiatives, we are supporting the rapid identification of patients with debilitating diseases, allowing them to gain access to earlier therapeutic interventions. For LSDs, there are more than 50 different disorders with overlapping symptoms, making misdiagnosis common," said RA Session II, Tayshas President, CEO and Founder. "Likewise, more than 50% of epilepsies have a genetic basis. When a patient presents with seizures, genetic testing may help identify more than 100 underlying, often rare conditions. We are proud to support these initiatives to help patients gain timely access to natural history studies, clinical trials, and ultimately disease-modifying therapies."

Eligible individuals suspected of having an LSD or epilepsy will gain access to genetic testing and counseling at no charge through these programs. The Detect LSDs program will help identify individuals who are eligible for Tayshas study evaluating TSHA-101 in patients with GM2 gangliosidosis, expected to enter the clinic later this year. The Behind the Seizure program will enable patient identification across Tayshas broad pipeline of indications, some of which have an underlying seizure phenotype, and rapid enrollment into natural history studies and clinical trials.

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"Increasing access to genetic testing can support earlier diagnosis of neurodegenerative diseases, which in turn enables clinicians to provide precision therapies sooner and better overall outcomes," said Robert Nussbaum, M.D., Chief Medical Officer of Invitae. "These unique, cross-company collaborations have been shown to help increase access to testing and reduce time to diagnosis. We are pleased Taysha has joined us in helping increase access to testing for children impacted by neurodegenerative conditions."

Additional details, as well as terms and conditions of the Detect LSDs program, can be found at To learn more about the Behind the Seizure program, please visit

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as "anticipates," "believes," "expects," "intends," "projects," and "future" or similar expressions are intended to identify forward-looking statements. Forward-looking statements include statements concerning or implying the conduct or timing of our partnership with Invitae and our planned clinical trial of TSHA-101 for the treatment of GM2 gangliosidosis, the potential of our product candidates to positively impact quality of life and alter the course of disease in the patients we seek to treat, our research, development and regulatory plans for our product candidates, the potential for these product candidates to receive regulatory approval from the FDA or equivalent foreign regulatory agencies, and whether, if approved, these product candidates will be successfully distributed and marketed. Forward-looking statements are based on management's current expectations and are subject to various risks and uncertainties that could cause actual results to differ materially and adversely from those expressed or implied by such forward-looking statements. Accordingly, these forward-looking statements do not constitute guarantees of future performance, and you are cautioned not to place undue reliance on these forward-looking statements. Risks regarding our business are described in detail in our Securities and Exchange Commission filings, including in our prospectus dated September 23, 2020, as filed with the Securities and Exchange Commission ("SEC") on September 24, 2020, pursuant to Rule 424(b) under the Securities Act of 1933, as amended, which is available on the SECs website at Additional information will be made available in other filings that we make from time to time with the SEC. Such risks may be amplified by the impacts of the COVID-19 pandemic. These forward-looking statements speak only as of the date hereof, and we disclaim any obligation to update these statements except as may be required by law.

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Company Contact: Niren Shah, PharmD, MBATaysha Gene

Media Contact: Carolyn HawleyCanale

Taysha Gene Therapies Partners with Invitae to Enable Rapid Access to Genetic Testing and Earlier Diagnosis of Patients with CNS Disease for Rare and...

Global Cannabis Testing Market Is Expected to Reach USD 4.87 billion by 2027 : Fior Markets – GlobeNewswire

Newark, NJ, Oct. 05, 2020 (GLOBE NEWSWIRE) -- As per the report published by Fior Markets, theglobal cannabis testing market is expected to grow from USD 1.71 billion in 2019 and to reach USD 4.87 billion by 2027, growing at a CAGR of 14% during the forecast period 2020-2027.

The global cannabis testing market is witnessing significant growth from recent years. This growth is attributed to the growing number of medical applications of cannabis, rising investment by various research institutes, increasing focus to meet the needs of hemp and cannabis cultivator, and legalization of medical cannabis associated with a rising number of cannabis analysis laboratories. Rising adoption of LIMS in cannabis testing laboratories, growing awareness among people through workshops and conferences will propel the market growth.

The methods of drug testing for detecting the use of cannabis in an individual in the field of medicine, sport, and the law is known as cannabis testing. The various methods in which cannabis can be detected are hair testing, saliva testing, urine testing and various others. An analysis of a single cannabis sample tested to determine elements, such as CBD, THC, terpene levels and impurities like mold, residual solvents, pesticide residual and diseases, is referred to as cannabis testing. The amount of concentration obtained from these analyses can be useful in distinguishing elapsed time since used, active use from passive exposure and duration of use. Certified chemical and laboratory technicians can only perform cannabis testing.

The global cannabis testing market is expected to witness significant growth, owing to the increase in the development of therapies derived from cannabis and components, rising investment, and legalization of cannabis in various emerging economies. Lack of standard testing process, absence of trained laboratory professionals, and high cost of analytical instruments will restrain the market growth. Revoking of the ban on cannabis in developing economies will provide market growth opportunities. However, the lack of industry standards for cannabis testing and high start-up cost for cannabis testing laboratories will challenge the market growth.

DOWNLOAD FREE SAMPLE REPORT AT key players operating in the global cannabis testing market are CannaSafe Analytics, Steep Hill, Anandia Labs, Eirlab, Phytovista Laboratories, CW Analytical Laboratories, Pure Analytics, Anresco, EVIO, SC Labs, and Digipath. To gain a significant market share in the global cannabis testing market, the key players are now focusing on adopting strategies such as product innovations, mergers & acquisitions, recent developments, joint venture, collaborations, and partnership. Digipath and CannaSafe are some of the key manufacturers in cannabis testing.

Chromatography instruments segment dominated the market and held the largest share of 38.9% in the year 2019On the basis of product and software, the global cannabis testing market is segmented into analytical instruments, consumables, and software. The analytical instruments segment is further segmented into chromatography instruments, spectroscopy instruments, and other analytical instruments. The chromatography instruments are further classified into liquid chromatography, gas chromatography, and other chromatography instruments. The spectroscopy instruments segment is further classified into mass spectrometry, atomic spectroscopy, and atomic spectroscopy. The consumables segment is further segmented into chromatography columns, standards & CRMS, sample preparation products, and supplies and accessories. Chromatography instruments segments dominated the market and held the largest share of 38.9% in the year 2019. This growth is attributed to the application of chromatography techniques in potency testing of cannabis. The spectroscopy instrument segment is anticipated to witness significant growth due to the increasing legalization of cannabis testing and its derivative for adults' recreational and medical use.

Potency testing segment dominated the market and held the largest share of 21.4% in the year 2019On the basis of testing procedure, the global cannabis testing market is segmented into the residual solvent screening, terpene profiling, potency testing, genetic testing, pesticide screening, heavy metal testing, and microbial analysis. The potency testing segment dominated the market and held the largest share of 21.4% in the year 2019. This growth was attributed to the increasing applications of cannabinoids for medical purposes. It is also essential for the precise labeling of medical purposes.

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Laboratories segment dominated the market and held the largest share of 31.2% in the year 2019On the basis of end-user, the global cannabis testing market is segmented into laboratories, cannabis cultivators, research institutes, and drug manufacturers & dispensaries. Laboratories segment dominated the market and held the largest share of 31.2% in the year 2019. This growth was attributed to the increasing legalization of cannabis for medical as well as recreational use, and rising demand for cannabis testing software in labs.

Regional Segment of Cannabis Testing Market

On the basis of geography, the global cannabis testing market is classified into North America, Europe, Asia-Pacific, Middle East & Africa, and South America. North America held the major share of 28.71% in the year 2019. This growth was attributed to the growing legalization pertaining to the use of cannabis across various U.S. states, increasing cultivators of marijuana, and the rising number of testing laboratories. The growing demand for cannabis for personal use will further propel the market growth. The Chile cannabis testing market is anticipated to grow due to the growing awareness of the medical use of cannabis and the increase in cannabis use for medical purposes. The Germany market is expected to witness significant growth due to increased approval of production licenses and new medical cannabis legislation.

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Global Cannabis Testing Market Is Expected to Reach USD 4.87 billion by 2027 : Fior Markets - GlobeNewswire

Breast Cancer Awareness | Genetic testing urged to help pinpoint risk –

WINDBER Marlene Singer has been a familiar face in Johnstowns health care and philanthropy circles.

A former chairwoman of the local American Cancer Society Relay for Life event, Singer is founder and coordinator of the Johnstown Walk of Hope fundraiser to support cancer patients.

But even with her background in health care and cancer advocacy, no one had ever suggested Singer look at her own cancer risk until her gynecologist brought it up very recently.

All those years, it has never been discussed, Singer said at Joyce Murtha Breast Care Center in Windber. (Genetic testing) had never been offered before.

After a teleconference session with a genetic counselor in Pittsburgh, Singer had blood drawn and sent in for genetic testing.

I found out my risk is not zero, she said. I have a higher-than-normal long-term risk for breast cancer.

The Joyce Murtha centers genetic counselor, Kim Knapp, said Singers experience is not unusual. Family doctors and gynecologists arent providing information about family risk or suggesting genetic counseling, Knapp said.

It should be one of the first things you do for your patients, Knapp said.

My schedule should be so filled that I have a waiting list.


Genetic testing looks for inherited mutations in cells that increase the risk for cancer. The most well known are mutations of the BRCA1 and BRCA2 genes, named as shorthand for breast cancer.

Everyone has the genes, which normally function as tumor suppressors.

When they are mutated, they arent working, so tumor cells can grow uncontrolled.

The average lifetime risk of breast cancer for women is about 12%. For women who have a BRCA1 or BRCA2 mutation, the breast cancer risk is 50-85% by age 70. Their risk of developing ovarian cancer is increased, up to 40-60% by age 85, with BRCA1.

Both genes are also associated with increased risk for other cancers.

BRCA2 is linked to male breast cancer and pancreatic cancer and melanoma in both men and women, according to the American College of Obstetricians and Gynecologists.

Mutations in at least 10 other genes have been linked to increased risk of breast cancer, and there are more inherited gene mutations associated with other cancers.

Windber offers a genetic screening for a panel of almost 50 different mutations.

The new guidelines expand the pool of patients who are eligible for insurance coverage of the test, Knapp said.

Family history

At Indiana Regional Medical Center, breast surgeon and genetic counselor Dr. Dan Clark works with families to identify risk. Women who come in for routine mammograms are given questionnaires to help determine if they are eligible for counseling.

It is family history and personal health history, Clark said. There are certain childhood cancers that are related to breast cancer as an adult.

No more than 1 in 300 people carry the BRCA1 or BRCA2 mutations.

Those patients have two options to improve their odds: Surgically remove both breasts and the ovaries, or establish an enhanced screening regimen. The enhanced screening includes mammograms and magnetic resonance imaging studies alternating every six months.

While Dr. Lauren Deur at UPMC Altoona is a proponent of genetic counseling and screening, she warns that low genetic risk is not the same as low risk.

Theres a misconception that if you dont have a family history, you dont have to get a screening mammogram, Deur said.

The American Cancer Society estimates 5-10% of all cancers come from inherited gene mutations.

We are making critical coverage of the coronavirus available for free. Please consider subscribing so we can continue to bring you the latest news and information on this developing story.

Randy Griffith is a multimedia reporter for The Tribune-Democrat. He can be reached at 532-5057. Follow him on Twitter@PhotoGriffer57.

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Breast Cancer Awareness | Genetic testing urged to help pinpoint risk -

Point-of-Care Genetic Testing Market is Set to Experience Revolutionary Growth by 2027 –

With 1000+ market research reportsand 1 billion+ data points, Future Market Insights (FMI) serves each and everyrequirement of the clients operating in the global healthcare, pharmaceuticals,and medical device industries. FMI deploys digital intelligence solutions to offercompellinginsights to report buyersthat help them in overcoming market challenges,especially at the time of a crisis. Our dedicated team of professionals performsan extensive survey for gathering accurate information associated with themarket.

FMI, in its upcoming business report, elaborates the historicaland current scenario of the global Point-Of-CareGenetic Testing market in terms of production, consumption, volume, and value.The report scrutinizes the market into various segments, regions and players onthe basis of demand pattern and growth prospects.

Crucial information and forecast statistics covered in the Point-Of-CareGenetic Testing market report will arm both existing and emerging marketplayers with necessary insights to craft long-term strategies as well asmaintain business continuity during a crisis such as the ongoing COVID-19pandemic.

COVID-19Impact Analysis on Point-Of-Care Genetic Testing Market

The recent outbreak of the COVID-19 has turned the spotlighton the healthcare industry, and subsequently impacted the Point-Of-Care GeneticTesting market. Severe shortages of critical medical supplies and a rapid risein number of COVID-19 cases have resulted into a revolution rather thanevolution in the healthcare ecosystems. Consequently, the impact is noticeablein the Point-Of-Care Genetic Testing market.

Following governments measures, particularly socialdistancing norms and stay-at-home orders, doctors are delaying or postponingelective surgeries unless critical to prevent the spread of the virus toindividuals with comorbidities or chronic conditions. Additionally, movementrestrictions and supply chain disruptions have created a logistical nightmarefor market players, leading to severe product shortages in the globalmarketplace.

The FMIs report includes an interesting chapter onpreliminary impact of the COVID-19 on the Point-Of-Care Genetic Testing market.This allows both leading and emerging market players to understand the marketscenario during a crisis and aids them in making sound decisions to gain adistinct competitive edge.

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Point-Of-CareGenetic Testing Market: Segmentation

Valuable information covered in the FMIs Point-Of-CareGenetic Testing market report has been segregated into key segments andsub-segments.

By Product type

By End use

Point-Of-Care Genetic Testing Market:Competition Analysis

The FMIs study presents a comprehensive analysis of global,regional, and country-level players active in the Point-Of-Care Genetic Testingmarket.Competitive information detailed in the Point-Of-Care Genetic Testingmarket report has been based on innovative product launches, distributionchannels, local networks, industrial penetration, production methods, andrevenue generation of each market player. Furthermore, growth strategies andmergers & acquisitions (M&A) activities associated with the players areenclosed in the Point-Of-Care Genetic Testing market report.

Key players covered in the report include:

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Point-of-Care Genetic Testing Market is Set to Experience Revolutionary Growth by 2027 -

Genetic Testing Should Be Considered for All Patients With Pancreatic Cancer – Targeted Oncology

Michael J. Pishvaian, MD, PhD, discusses the key takeaway from his presentation at the 17th Annual Meeting of the International Society of Gastrointestinal Oncology on the role of genetic testing in patients with pancreatic cancer.

Michael J. Pishvaian, MD, PhD, associate professor, School of Medicine, and director, Gastrointestinal, Developmental Therapeutics and Clinical Research Programs, Johns Hopkins Kimmel Cancer Center, discusses the key takeaway from his presentation at the 17th Annual Meeting of the International Society of Gastrointestinal Oncology on the role of genetic testing in patients with pancreatic cancer.

Pishvaian says the most important takeaway is to test patients, and this is supported by both scientific evidence as well as national recommendations. Both the American Society of Clinical Oncology (ASCO) and the National Comprehensive Cancer Network (NCCN) recommend hemline testing for pathogenic hereditary mutations in 100% of pancreatic cancers, irrespective of their disease stage or other characteristics.

In 2019, the NCCN updated their recommendations to introduce somatic testing for patients with advanced pancreatic cancer. This accounts for roughly 80% of pancreatic cancers, says Pishvaian, and these patients, for whom there may be a novel therapy that may provide some degree of benefit, should undergo somatic testing to detect any potential actionable biomarkers.

Genetic Testing Should Be Considered for All Patients With Pancreatic Cancer - Targeted Oncology