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Archive for the ‘Genetic Testing’ Category

Carla Was Diagnosed with Breast Cancer So were Her Sisters and Daughters in Remarkable Case of ‘Family History’ – Baptist Health South Florida

After three of Carla Walkers four sisters developed breast cancer, she lived with the uneasy feeling that she would be next. That feeling turned out to be right. In February of 2019, an MRI discovered a tumor too small to be detected by a mammogram. It was invasive ductal cancer, which makes up about 80 percent of all breast cancers.

I was very, very lucky, says Ms. Walker (pictured above). My breast cancer was stage 1-A. It was the size of a chickpea.

Early detection and treatment meant an excellent prognosis for the 59-year-old mother of two who works for Miami-Dade County Fire Rescue as a training coordinator for fire, police and 911 dispatchers.

I knew that I wanted a mastectomy, if that was at all possible, she says. I just wanted to definitely remove any chance of it ever coming back, if there was any way at all. Not to say that it cant, because it can. But at least I lessened those chances.

(Watch video now: Hear from breast cancer patient, Carla Walker, and Starr Mautner, M.D., breast surgeon at Miami Cancer Institute. Video by Carol Higgins.)

Starr Mautner, M.D., breast surgeon atMiami Cancer Institute, guided Ms. Walker through her treatment options, discussing the risks and benefits of a lumpectomy versus a mastectomy.

Ultimately, Carla had to make the decision that was right for her, says Dr. Mautner. And that was a very personal decision. Having bilateral mastectomies for her was the only way that she would ultimately have peace of mind, but this isnt necessarily the right decision for all patients.

Family History and Genetic Testing

Prior to her diagnosis, Carla and her sisters with breast cancer had each undergone genetic testing. None of them carried a genetic mutation that is associated with a high risk of breast cancer. While family history is important, Dr. Mautner emphasizes that only about 10 percent of all breast cancers are actually linked to a genetic mutation, such as the BRCA gene mutation.

The most important thing to note in discussing family history for patients with breast cancer is it is not only the mothers side that matters, says Dr. Mautner. Common sense would say, Well, if my mother didnt have it and my grandmother didnt have it on her side, maybe I have nothing to worry about. And thats simply not true. The fathers history also is equally as important. You inherit half of your genes from your father.

While Carla was recovering from her surgery, she got the news that one of her identical twin daughters, Jillian, found a lump in her breast. Two days after her 34thbirthday, Jillian, who lives in Lakeland, Florida, was diagnosed with triple-negative breast cancer. Earlier this year, twin sister Samantha, in Phoenix, received the same diagnosis. Subsequent genetic test results revealed that both daughters had inherited the BRCA gene mutation from their father, who, in turn, could trace it to his father.

Carlas story is just so unique and unfortunate, says Dr. Mautner. Its unbelievable that she was going through a cancer that was caught extremely early and then one twin daughter gets diagnosed. And because theyre identical, it makes sense that the other daughter would have the exact same genetic makeup and also be at extremely high risk. Both of her daughters had much more aggressive breast cancer than Carla. Not only did they need surgery, but chemotherapy as well. Fortunately, theyre all doing well.

Cancer Patient Support Center

Ms. Walker credits theCancer Patient Support Centerat Miami Cancer Institute for helping her through her cancer journey and the traumatic news of her daughters cancer battles. I needed help with managing myself, my own diagnosis, my daughters diagnosis, and then my second childs diagnosis, she says, thankful for the support she received fromBeatriz Currier, M.D., Medical Director of Cancer Patient Support Center andChiefof Psychiatric Oncology at Miami Cancer Institute.

I really made a home in the Patient Support Center. I have used the exercise physiologist, Ive had acupuncture, I have had massage therapy. Ive worked with two of the dieticians there. I couldnt have had a better experience.

Most recently, Ms. Walker took advantage of a unique new service offered through the Cancer Patient Support Center; nipple tattooing. As she explains: After my mastectomy, I had no nipples or areola. That part of my skin had been removed. So, I felt kind of empty, or not quite whole. When I went in and I got that first tattoo done, she actually did a 3D tattoo of both the nipple and areola. It looks absolutely real. The results were beautiful and I couldnt be happier. I smile in the mirror every day now.

Dr. Mautner believes nipple tattooing is an important service to offer, saying, It may seem like a trivial thing to have nipple tattoos, but for women who have lost their nipples, thats a huge thing psychologically. Carla is now over a year and a half out from her surgery. Shes doing great. She has an excellent prognosis, but the nipple reconstruction really completed her journey and she feels whole again. Her confidence and her energy, you can just see that she feels back to baseline.

Exercise has played a major role in Ms. Walkers recovery. Shes a member of the Save Our Sisters dragon boat team alongside other breast cancer survivors.

We get into our dragon boat, our pink boat with our pink paddles and our pink shirts, and we move. It has been just absolutely almost life-saving for me, because its a great way to get rid of the stress. Its a way to move. Its a way to exercise, and those are the things that you need a lot after cancer. And, you can do it with women who know that youre sore, youre tough, youre going through something, she says.

Ms. Walker offers this advice to other women facing breast cancer: You absolutely cannot give up. You have to push on. You have to push through. When you think youre at the end, find a way to take that next step. Find a way, no matter what it is.

Tags: breast cancer, breast cancer awareness month, Miami Cancer Institute

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Carla Was Diagnosed with Breast Cancer So were Her Sisters and Daughters in Remarkable Case of 'Family History' - Baptist Health South Florida

Predictive Genetic Testing And Consumer/Wellness Genomics Market Study with Competitive Landscape, Market Insights and growth Prospects to 2025 -…

Researchmoz added most up-to-date research on Predictive Genetic Testing And Consumer/Wellness Genomics Market to its huge collection of research reports. Market includes Overview, classification, industry value, price, cost and gross profit. It also covers types, enterprises and applications. To start with, analytical view to complete information of Predictive Genetic Testing And Consumer/Wellness Genomics Market. It offers market view by regions with countries, development in Predictive Genetic Testing And Consumer/Wellness Genomics Market opportunity with challenges, sales strategies, growth strategies and revenue analysis to include price.

The main part of the report is about the segmentation of the Predictive Genetic Testing And Consumer/Wellness Genomics Market. With the help of a variety of criteria, the report categorizes markets and studies them individually. The report also provides materials, including leading segments or sub-segments, the slowest growing segments and sub-segments in the market. Revenue and prospects for each sector are also provided. Market segmentation allows readers to study the market more closely.

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Top Key Vendors:

Illumina,BGI,Genesis Genetics,Myriad Genetics,23andMe, Inc,Color Genomics Inc,Pathway Genomics,ARUP Laboratories

Predictive Genetic Testing And Consumer/Wellness Genomics Market is a complete study of the market current trends, Market growth drivers and restraints. It provides market forecasts for the coming years. It involves analysis of recent developments in technology, Porters five force model analysis and definite profiles of finest Market players. The report also builds a review of micro and macro factors imperative for the new entrants in the market and the ones already in the market along with detailed value chain analysis.

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This study is likewise presented from a geographical point of view. Key elements of each region to attract Predictive Genetic Testing And Consumer/Wellness Genomics Market for growth are provided. This record also details the emerging market opportunities offered by North America, Europe, the Middle East and Africa, Asia Pacific and Latin America.The research report also analyzes the market hierarchies that perform SWOT analyzes for key vendors operating in global markets.

The conclusions of this report illustrate the potential of the global Predictive Genetic Testing And Consumer/Wellness Genomics Market in terms of investment potential in various segments of the market and illustrate the feasibility of explaining the feasibility of a new project to be successful in the near future. The core segmentation of the global market is based on product types, SMEs and large corporations. The report also collects data for each major player in the market based on current company profiles, gross margins, sales prices, sales revenue, sales volume, photos, product specifications and up-to-date contact information

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Table of Contents

Global Predictive Genetic Testing And Consumer/Wellness Genomics Market Research Report

Chapter 1 Predictive Genetic Testing And Consumer/Wellness Genomics Market Overview

Chapter 2 Global Economic Impact on Industry

Chapter 3 Global Market Competition by Manufacturers

Chapter 4 Global Production, Revenue (Value) by Region

Chapter 5 Global Supply (Production), Consumption, Export, Import by Regions

Chapter 6 Global Production, Revenue (Value), Price Trend by Type

Chapter 7 Global Market Analysis by Application

Chapter 8 Manufacturing Cost Analysis

Chapter 9 Industrial Chain, Sourcing Strategy and Downstream Buyers

Chapter 10 Marketing Strategy Analysis, Distributors/Traders

Chapter 11 Market Effect Factors Analysis

Chapter 12 Global Predictive Genetic Testing And Consumer/Wellness Genomics Market Forecast

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Report: The Impact of COVID-19 on Genetic Testing Panels Market, Projected Fact.MR – The Cloud Tribune

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THE JACKSON LABORATORY,Illumina, Inc.,Invitae Corporation,

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Research LaboratoryAcademic & Research InstitutesDiagnostic LabsOthersHave Any Query? Ask our Industry Experts-

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What is the forecast size (revenue/volumes) of the most lucrative regional market? What is the share of the dominant product/technology segment in the Genetic Testing Panels market? What regions are likely to witness sizable investments in research and development funding? What are Covid 19 implication on Genetic Testing Panels market and learn how businesses can respond, manage and mitigate the risks? Which countries will be the next destination for industry leaders in order to tap new revenue streams? Which new regulations might cause disruption in industry sentiments in near future? Which is the share of the dominant end user? Which region is expected to rise at the most dominant growth rate? Which technologies will have massive impact of new avenues in the Genetic Testing Panels market? Which key end-use industry trends are expected to shape the growth prospects of the Genetic Testing Panels market? What factors will promote new entrants in the Genetic Testing Panels market? What is the degree of fragmentation in the Genetic Testing Panels market, and will it increase in coming years?Why Choose Fact.MR?

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Report: The Impact of COVID-19 on Genetic Testing Panels Market, Projected Fact.MR - The Cloud Tribune

Preimplantation Genetic Testing Market Report Examines Growth Overview And Predictions On Size, Share And Trend 2019-2029 – TechnoWeekly

A new report by XploreMR takes a deep dive into the Fresh Onions and Shallots Market after conducting meticulous research, assessing each microscopic aspect of the market. The researches have connected the dots with minuscule details that shape into an intricate, immaculate yet elucidate study. The report presents a thoroughly scrutinized study of the Fresh Onions and Shallots Market, leaving no stone unturned in offering market players a valuable and constructive tool that navigates them in the profitable path with the right set of objectives.

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ThisPress Release will help you to understand the Volume, growth with Impacting Trends. Click HERE To get SAMPLE PDF (Including Full TOC, Table & Figures) at

The researchers have studied the factors that are expected to drive the growth of the Fresh Onions and Shallots by creating revenue opportunities, directly and indirectly. Similarly, the emerging trends, both long-term and short-term, present factors that are likely to impact the markets growth and project the direction the whole market is moving. Economical, technological, or any other trend that could bestow opportunities, have been studied. Moreover, the researchers have expanded the analysis beyond growth prospects and analyzed the possible restraining factors to the growth of the Fresh Onions and Shallots Market, thus enabling market players to foresee the likely challenges and emerge successful through the forecast period 2019-2029.

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Preimplantation Genetic Testing Market Report Examines Growth Overview And Predictions On Size, Share And Trend 2019-2029 - TechnoWeekly

NICE recommends testing womb cancer patients for inherited condition – PharmaTimes

The UKs National Institute for Health and Care Excellence (NICE) has released new guidance recommending that people with womb cancer should be tested for an inherited genetic condition.

The new diagnostic guidance advises that people with womb cancer are tested for the condition known as Lynch syndrome. According to NICE, having this condition increases the risk of certain types of cancer, including womb and colorectal cancer.

In addition, womb cancer is often the first cancer that those with Lynch syndrome will have, meaning that the condition could be identified earlier if tests were undertaken as soon as a womb cancer diagnosis is made.

In particular, the guidance recommends that immunohistochemistry (IHC) testing should be used on womb cancer tissues to detect abnormalities that could indicated the presence of Lynch syndrome.

This should then be followed by MLH1 testing if both tests show that an individual could have Lynch syndrome, genetic testing of the persons non-tumour DNA should then be carried out to confirm this.

Research led by professor Emma Crosbie, with professor Gareth Evans and Dr Neil Ryan from The University of Manchester and Manchester University NHS Foundation Trust, was presented to NICEs diagnostic advisory committee.

This showed the different benefits of a range of testing strategies for Lynch syndrome in womb cancer cases in increasing diagnosis of the condition.

Around 175,000 people in the UK have Lynch syndrome and a large number will not be aware that they have the condition.

Testing people for Lynch syndrome after theyve been diagnosed with womb cancer will not only benefit the patient but it also has the potential to identify those family members with this genetic condition, said Meindert Boysen, deputy chief executive and director of the Centre for Health Technology Evaluation at NICE.

This guidance could have a real impact on peoples lives. By being identified as having Lynch syndrome, relatives will know they are at higher risk of gynaecological cancer which may also help them make decisions about family planning, which could mean starting a family earlier.

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NICE recommends testing womb cancer patients for inherited condition - PharmaTimes

Skepticism led woman to send dog DNA to Orig3n. Scientists question the reliability of direct-to-consumer genetic testing and analysis. -…

First, Katie Stoll sent the company a swab from her mixed-breed dog; later, a sample of tap water from her kitchen sink. Neither sample was identified as non-human by Orig3n lab employees.

Genetic counselor Katie Stoll was skeptical when she bought an at-home genetics test kit from a company called Orig3n in December 2017.

The kit was advertised to parents looking to better understand their childrens genetic profiles.

From food allergies to natural abilities for language and learning, the results help you get to know your child even better, Orig3n said of its Childhood Development genetic test kit.

Stoll purchased the test kit not to learn more about her child, but to learn more about Orig3n, a Boston-based consumer genetics company that pivoted to COVID-19 testing last spring and is now facing sanctions from the Centers for Medicare & Medicaid Services after the lab produced at least 383 false positive coronavirus test results last summer.

Stoll, working on her own, eventually submitted two samples to Orig3n for analysis. First, she sent the company a swab from her mixed-breed dog, Ginger; then later, a sample of tap water from her kitchen sink. Neither sample was identified as non-human by Orig3n lab employees.

Stoll is a board-certified genetic counselor who now works as executive director for the Genetic Support Foundation, an Olympia, Washington-based nonprofit that aims to provide independent information about genetics.

In a 2018 complaint she wrote to the Massachusetts Department of Public Health spurred by Orig3ns failure to identify the dog and tap water samples as non-human Stoll said that in ordering the kits, she as a consumer wanted to see if the company was forthright about the potential risks and limitations of the kind of genetic testing it offered. She also wanted to know if the company required a consent form, since the test was for children.

Orig3n CEO Robin Smith said last week that while the type of DNA analysis his company offers is relatively new, it provides one tool among many to help people make decisions about their lives.

The philosophy and culture here is, let's optimistically look at how you make yourself better, which is what everybody's interested in, he said. It's just another tool in that approach.

Scientists skeptical

But direct-to-consumer genetic testing continues to be viewed with skepticism in the scientific community.

Sarah Nelson is a senior research scientist at the University of Washington specializing in the ethical and social implications of genomics the study of all of an individuals genes and direct-to-consumer genetic testing. The university'sMolecular Biology and Genetics programs were ranked sixth in the world by U.S. News & World Report.

Theres a wide range in the quality and validity of direct-to-consumer genetic testing companies and the products they offer, Nelson said, but overall, the genetics community has reservations about genetic tests billed as being able to advise people about their predisposition to certain traits.

There's skepticism that we even understand the genetic basis of diseases and traits well enough to be reporting back to individuals, just the scientific credibility, she said. Maybe in 20 years we'll know enough to give people that type of information, but right now, it's premature.

Lindsay Farrer, a medical geneticist and Boston Universitys chief of biomedical genetics, said direct-to-consumer genetic testing often misleads customers because the companies use population-level data from studies about genetic links to certain traits or diseases and wrongly applies that data into risk assessments for random individuals.

Usually, the studies used by companies like Orig3n are based on very specific populations, such as older white European women, that dont always represent the range of people ordering the tests.

The information they give, even if it's of limited applicability, the accuracy of it is, at best, modest, he said. I guess my conclusion would be buyer beware.

Orig3n fails to flag samples as non-human

Stoll watched Orig3n advertise at sporting events including NFL and NHL games with concern, but it was the companys online advertisements for its Childhood Development test kits that prompted her to place an order herself.

Stoll thinks consumer genetic test kits like the ones offered by Orig3n also push important ethical boundaries, especially when it comes to children. Children cant consent to learning information about their DNA that has the potential to shape the rest of their lives, she said, even if their parents can.

Stoll said she didnt trust Orig3n with her childs DNA or her own, so instead, she swabbed the cheek of her dog, Ginger. After sending the kit containing Gingers DNA to Orig3n, she got a full report back from the company on Jan. 18, 2018 about the dogs genetic profile, which showed, among other things, that she was likely to have mild struggles with reading.

She said she gave the company a second chance. She ordered another Childhood Development kit, and sent in a sample of tap water from her kitchen sink on March 17, 2018. Again, she got a full report back from Orig3n. According to the report, the tap water would need longer to develop skills required for language learning.

Farrer laughed out loud when he learned that Orig3n had returned profiles for Stolls dog and the sample of tap water from her kitchen sink.

I can't think of a word to describe it, but it is beyond incompetence, he said. If that's the case, they are not competent to do what they're doing. If theyre getting DNA out of tap water, then thats bacterial DNA and that is clearly different from human DNA.

If they cant generate results reliably, then its worse than snake oil, Farrer said. Its downright chicanery.

A lab in transition

The companys report on Stolls sample of tap water was signed by Orig3ns then-lab director, a board certified geneticist, which deeply disturbed Stoll.

She reached out to the lab director, who told Stoll that she had resigned from the company, and that when the tap water sample was submitted, Orig3n was transitioning to a new director.

The lab director was not on-site at the laboratory when the test was performed and she had very limited visibility into the testing operations at that time, Stoll wrote in her complaint letter.

Stoll told the DPH that she was concerned about Orig3ns ethics, its technical proficiency and its professional oversight.

I hope that (the Centers for Medicare & Medicaid Services) will investigate these concerns and act as necessary in the interest of public safety, Stoll wrote in the complaint, dated Sept. 24, 2018.

In an emailed response to a similar complaint Stoll sent to the federal Food & Drug Administration, Tim Stenzel, writing on behalf of FDA Commissioner Scott Gottlieb, said the agency takes reports like hers seriously.

...We will evaluate this matter to determine what follow-up action is appropriate, Stenzel wrote. The type and extent of any follow-up is dependent upon the nature of the problem, the possible impact on the public health, and the availability of our resources.

A DPH investigation into Orig3n conducted before Stoll filed her complaint found the lab had fixed lab issues that led to the companys failure to identify dog DNA as non-human.

In April 2020, despite three previous investigations by other agencies into quality control problems in Orig3ns lab, the FDA gave the company emergency authorization to conduct coronavirus testing.

In May, the DPH recommended Orig3n as a testing option for nursing homes facing deadly outbreaks.

For Stoll, the eventual finding by regulators that problems at Orig3ns lab led to the reporting of hundreds of false positive COVID-19 tests showed a dangerous weakness in how governmental agencies are overseeing labs that test human samples, whether those tests are used for diagnostic purposes or personal betterment. False diagnostic test results can pose a danger to patients because doctors make medical decisions based on those results.

That weakness needs to be addressed so Americans can trust the results of their lab tests, especially amid a deadly pandemic, she said.

I feel discouraged, Stoll said last week. What does the system mean when you do things the right way and you file complaints to the right agencies and nothing happens, and then something horrible like this happens? It just feels terrible, really.

Jeannette Hinkle is a reporter for The MetroWest Daily News. Reach her at

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Skepticism led woman to send dog DNA to Orig3n. Scientists question the reliability of direct-to-consumer genetic testing and analysis. -...

Hereditary Testing Services Market: Advancements in hereditary testing techniques are expected to boost the market – BioSpace

Hereditary Testing Services Market: Introduction

Hereditary testing is usually referred to as genetic testing or DNA testing. Hereditary testing is employed to spot alterations in the DNA sequence that correlate with a disease or higher risk to develop a disease. This kind of test is often used for diagnosis before any symptoms of the disease are recognizable in order to work out the personal risk for certain multifactorial diseases. Thus, the results of hereditary testing can have far-reaching effects on a person's life.

Hereditary testing can provide important information for diagnosis, treatment, and prevention of illness; however, there are limitations. For instance, a positive result from DNA testing in a healthy individual doesn't generally mean that he would develop a disease, while in some situations, a negative result doesn't guarantee that the individual won't have a particular disorder.

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Key Drivers, Restraints, and Opportunities of Hereditary Testing Services Market

The global hereditary testing market is estimated to expand significantly in the near future, due to a rise in incidence of hereditary disorders and cancer and a rise in awareness & acceptance of personalized medicines. For instance, hereditary testing has been widely utilized in pharmacogenomics, also referred to as drug-gene testing. Additionally, advancements in hereditary testing techniques are expected to boost the hereditary testing market during the forecast period. However, standardization concerns of hereditary testing-based diagnostics and stringent regulatory requirements for product approvals are anticipated to hamper the hereditary testing market during the forecast period. Conversely, untapped emerging markets in developing countries are expected to offer significant opportunities for market players. For instance, healthcare systems in developing countries such as Brazil, India, and China have witnessed a significant increase in investments in healthcare and infrastructure, which boosts the demand for hereditary testing in the region.

Technological advancements in hereditary testing are likely to boost the global market during the forecast period. Advances in sequencing techniques have reduced the sequencing time and cost of hereditary testing. For instance, microarrays substantially reduce the sequencing time by utilizing microchips. These microchips employ fluorescein to spot mutations within the chromosomes. Furthermore, innovations such as exome sequencing and next-generation sequencing have reduced the cost of hereditary testing. Hence, technological advancements are projected to propel the global hereditary testing market during the forecast period.

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North America to expand significantly during forecast period

North America is projected to dominate the global hereditary testing services market during the forecast period. Increased demand for hereditary testing to understand ancestry, a rise in the demand for in-vitro fertilization (IVF), and pre-implantation testing are key factors augmenting the share held by the region. Technological advancements, presence of key players, launch of new products, the demand of diagnostics for cancer detection, and rise in prevalence and incidences of autoimmune, infectious diseases in the region are major factors driving the market in the region.

The hereditary testing services market in Asia Pacific is anticipated to expand at a notable growth rate during the forecast period. Increase in patient burden suffering from chronic diseases and recent mergers & acquisitions among key players offering hereditary testing and services are estimated to propel the market in the Asia Pacific region during forecast period.

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Top Companies in Hereditary Testing Services Market

The global hereditary testing services market is consolidated in terms of the number of players. Key players in the global hereditary testing services market include

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Hereditary Testing Services Market: Advancements in hereditary testing techniques are expected to boost the market - BioSpace

Potential Impact of COVID-19 on Predictive Genetic Testing & Consumer/Wellness Genomics Market – The Think Curiouser

Global Predictive Genetic Testing & Consumer/Wellness Genomics Market: Snapshot

The use of genetic test, as pre-symptomatic testing of diseases, has gained popularity in predicting future risks by providing information on an individuals chromosomes and genetic mutations. Predictive genetic testing is relatively new but rapidly emerging arena in public health practices, especially in developed nations. It is increasingly being used to guide nutritional strategies and training outcomes for a number of disorders. Common disorders include Huntingtons disease, cystic fibrosis, phenylketonuria, Downs syndrome, breast cancer, and sickle cell anemia.

Usually conducted in healthy persons, it involves identifying certain genetic traits that may cause disease in later years of life. Some of the most common types of predictive genetic testing can be genetic susceptibility testing, predictive diagnostic, and population screening. They may be useful in persons who have family history of some treatable genetic disorders. Consumer genomics usually involves the application of whole genome sequencing essentially to classify individuals in various risk types for a variety of diseases.

While wellness genomics is used to assist persons to take appropriate health decisions that promotes their wellness and help in maintenance of better health. It typically includes various genotypic and clinical information. Coupled with preventive medicines, wellness and consumer genomics form a key role in guiding health and wellness decisions in various populations.

The offerings of predictive genetic testing and consumer/wellness genomics market is expected to play a seminal role in the ultimate discovery of personalized therapies and medicines. World over, several direct-to-consumer (DTC) genetic testing and healthcare providers offer genetic testing products and services that are not essentially focused on disease risk but offer information that are being used by individuals, to offer information, with different levels of scientific validity, to guide their decision in fitness, diet, and athletic ability.

The type of genetic testing which is employed to diagnose or predict the gene mutation or genetic changes linked to a disease is called predictive genetic testing. It is usually used in a symptomatic person to check future risks. The branch of genomics concerned with the sequencing and interpretation of the individual is called consumer genomics, while the one which predicts the genetic factors contributing to healthy living is called wellness genomics. This type of testing enables a person to make good lifestyle changes and choices.

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The rising health care awareness and shifting population preference toward a healthy lifestyle have led to the expansion of the market for predictive genetics testing & consumer/wellness genomics. Factors such as the rising attention of the government and other private regulatory bodies toward public health care, increased effectiveness & quality of genetic testing, prevalence of chronic diseases & genetic diseases such as Parkinsons & cystic fibrosis are expected to drive the global predictive genetics testing & consumer genomics market during the forecast period. Furthermore, the rising need to understand ones family history is propelling the global market as well. However, stringent regulatory rules and ethics for the approval of genetic testing could limit the markets development through 2025.

In terms of test type, the global predictive genetics testing & consumer/wellness genomics market can be categorized into the predictive testing, consumer genomics, and wellness genomics segments. Predictive testing can be further divided into the genetic susceptibility testing, predictive diagnostic, and population screening sub-segments. On the basis of application, the global market can be split into the following groups: cancer screening, cardiovascular screening, musculoskeletal screening, diabetic screening, Parkinsons / Alzheimer disease screening, and others.

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Potential Impact of COVID-19 on Predictive Genetic Testing & Consumer/Wellness Genomics Market - The Think Curiouser

Predictive Genetic Testing And Consumer (Wellness) Genomics Market Analysis, Revenue, Share, Growth Rate & Forecast To 2025 – Express Journal

The research analysis of Predictive Genetic Testing And Consumer (Wellness) Genomics market offers significant information regarding the major trends that define this business landscape with regards to the regional outlook and competitive scenario. The report also highlights the limitations & challenges that could hamper the industry remuneration alongside the key opportunities that will aid in business expansion. Moreover, the document provides crucial insights regarding the effect of COVID-19 pandemic on the overall market outlook.

Primary pointers from COVID-19 impact study:

Summarizing the regional landscape:

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Significant Point Mentioned in theResearch report:

Table of Contents for market shares by application, research objectives, market sections by type and forecast years considered:

Predictive Genetic Testing And Consumer (Wellness) Genomics Market Share by Key Players: Here, capital, revenue, and price analysis by the business are included along with other sections such as development plans, areas served, products offered by key players, alliance and acquisition and headquarters distribution.

Global Growth Trends: Industry trends, the growth rate of major producers, and production analysis are the segments included in this chapter.

Market Size by Application: This segment includes Predictive Genetic Testing And Consumer (Wellness) Genomics market consumption analysis by application.

Predictive Genetic Testing And Consumer (Wellness) Genomics market Size by Type: It includes analysis of value, product utility, market percentage, and production market share by type.

Profiles of Manufacturers: Here, commanding players of the global Predictive Genetic Testing And Consumer (Wellness) Genomics market are studied based on sales area, key products, gross margin, revenue, price, and production.

Predictive Genetic Testing And Consumer (Wellness) Genomics Market Value Chain and Sales Channel Analysis: It includes customer, distributor, market value chain, and sales channel analysis.

Market Forecast: This section is focused on production and production value forecast, key producers forecast by type, application, and regions

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Predictive Genetic Testing And Consumer (Wellness) Genomics Market Analysis, Revenue, Share, Growth Rate & Forecast To 2025 - Express Journal

Genetic Testing Services Market 2020 Is Growing with Highest Size, Share of Top Key Players in the Industry and Forecast Survey Till 2024 – PRnews…

Final Report will add the analysis of the impact of COVID-19 on this industry.

The report provides the forecast of the Genetic Testing Services Market for the next four years which assist Genetic Testing Services industry analyst for building and developing business strategies. The Genetic Testing Services market report contains industry top manufacturers discussion based on the companys profiles, financial analysis, overview, market revenue, and opportunities by top geographical regions.

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The Genetic Testing Services Market Report is an in-depth assessment of current state of industry and estimates forecast based on actual facts and figures. The Genetic Testing Services Market report provides analysis based on segmentations, market potential, influential trends, and the challenges that the market is facing during this COIVD- 19 pandemic. The data (tables, figures, statistics, numbers) about the Genetic Testing Services market are taken from trustworthy sources such as websites, yearly reports of the enterprises, journals, and others and were tested and validated by the expert`s.

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This research consists of market segmentation by Types, Application and Genetic Testing Services market division based on geographical locations. Report also segmented by top vendors provides data about company introduction, product specification and major types analysis, production market performance, sales market performance and contact information:

By Market Players:Laboratory Corporation of America Holdings, CENTOGENE AG, Illumina, Inc., F. Hoffmann-La Roche Ltd, Ambry Genetics, Eurofins Scientific, NeoGenomics Laboratories, Inc., Genomic Health, Inc., Quest Diagnostics Incorporated, 23andMe, Inc.

By Test TypePrenatal Testing, Newborn Screening, Predictive & Presymptomatic Testing, Pharmacogenomic Testing, Others

By Service ProviderHospital-based Laboratories, Diagnostic laboratories, Specialty Clinics, Others,

By ApplicationOncology, Infectious Diseases, Autoimmune Diseases, Others,

Regional Analysis Covers: USA, Europe, China, India, Southeast Asia, Japan, South America, South Africa, Others.

The Genetic Testing Services market research report is a resource, which provides current as well as upcoming technical and financial details of the industry. The detailed study in this report enables CEOs, traders, investors, and dealers to realize the market in a better way and based on that data make knowledgeable decisions.

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Who are Key Manufacturers: Major market players that are concerned within the market like manufacturers, raw material suppliers, equipment suppliers, end users, traders, distributors and etc.

Data regarding Key Companies: Genetic Testing Services Capability, production, price, revenue, cost, gross, profit margin, sales volume, sales revenue, consumption, growth rate, import, export, supply, future strategies, and also the technological developments.

Segmentation Analysis: Genetic Testing Services Information and data by manufacturer, by region, by type, by application and etc. The report contains the SWOT analysis of the market.

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In short TOC of 2019-2024 Global and Regional Genetic Testing Services Industry Production, Sales and Consumption Status and Prospects Professional Market Research Report

-Genetic Testing Services overview includes Brief Introduction by Major Type, Application, Region

-Production analysis includes Capacity, Production, Capacity Utilization Rate, Ex-Factory Price, Revenue, Cost, Gross and Gross Margin Analysis

-Genetic Testing Services Sales analysis contains Global Sales Volume, Sales Price and Sales Revenue Analysis

-Consumption of Genetic Testing Services Market Analysis by Regional Market Performance and Market Share

-Genetic Testing Services Regional Market Performance and Market Share

-New Project Investment Feasibility Analysis contains SWOT Analysis

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Genetic Testing Services Market 2020 Is Growing with Highest Size, Share of Top Key Players in the Industry and Forecast Survey Till 2024 - PRnews...

Direct-to-Consumer Genetic Testing Market is anticipated to Reach USD 3.33 billion by 2027 Growing at a CAGR of 13.1% | Emergen Research – PRnews…

The latest market report published by Emergen Research, titled Global Direct-to-Consumer Genetic Testing Market, presents an accurate analysis of the estimated market size, share, revenue, and sales & distribution networks of the global Direct-to-Consumer Genetic Testing market over the forecast period. The report offers an exhaustive overview of the market, along with a precise summary of the markets leading regions. Our team of analysts has studied the existing competitive landscape of the market inside out, focusing on the leading companies and their business expansion strategies. The report ends with conclusive data offering useful insights into the market growth on both regional and global levels.

The report draws the focus of the reader on the grave impact of the ongoing COVID-19 pandemic on the Direct-to-Consumer Genetic Testing industry and its vital segments and sub-segments. It elaborates on the adverse effects of the pandemic on the global economic scenario, as well as this particular business sphere. The report takes into account the key influencing factors influencing market performance in the present COVID-19 times. The market has been substantially affected by the pandemic, and significant changes have been observed in the market dynamics and demand trends. The report examines the major financial difficulties brought about by the pandemic and offers a future COVID-19 impact assessment.

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Key Market Players:

23andMe, Full Genome Corporation, Color Genomics, Genesis Healthcare, Helix OpCo LLC, FamilyTreeDNA, MyHeritage, Identigene, Pathway genomics, and Living DNA

Direct-to-Consumer Genetic Testing Market Segmentation:

The report categorizes the market into different key segments based on types and applications, along with key regional segmentation. The report offers insights into the segment expected to garner traction during the forecast period, and the region expected to dominate the market in the coming years.

Test Type Outlook

Distribution Channel Outlook

Application Outlook

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The market intelligence study takes the reader through the key parameters of the Direct-to-Consumer Genetic Testing market, including the strengths and weaknesses of the leading players, using analytical tools like the SWOT analysis and Porters Five Forces analysis. The report includes broad market segmentation based on the different product types, a wide application spectrum, the key regions, and the existing competition among players. The investigative study further assesses the market on the basis of market reach and consumer base in the key geographical segments. Alongside reviewing the sales network, distribution channels, pricing analysis, profit margins, cost and demand volatility, import/export dynamics, gross revenue, and various other aspects of the market, the report studies several factors affecting market growth over the forecast period, such as drivers, restraints, limitations, growth prospects, and numerous macro- and micro-economic indicators. Moreover, it extensively examines the top market players and their estimated market size and share, sales volume, production and consumption rates, expansion strategies, and competitive edge.

Additionally, the report analyzes the principal strategies implemented by the companies operating across this industry vertical, such as mergers and acquisitions, collaborations, joint ventures, product launches, and brand promotions, to strengthen their global footprint. The report aims to offer a holistic examination of the industrys relevant features to the interested readers in a bid to help them leverage future growth prospects.

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Direct-to-Consumer Genetic Testing Market is anticipated to Reach USD 3.33 billion by 2027 Growing at a CAGR of 13.1% | Emergen Research - PRnews...

Genetic Testing Market: Applications and Regional Insights During the Forecasted Period 2020-2030 – TechnoWeekly

Prophecy Market Insights presented the Genetic Testing market which severs comprehensive and iterative research methodology. The company focuses on minimizing deviance in order to offer the most accurate estimations and forecast possible. The company utilizes a combination of bottom-up and top-down approaches for calculation and authenticate of the market size and for estimating quantitative aspects of the market.

Research and consulting services of Prophecy Market Insights help businesses across the world to navigate the challenges in the Genetic Testing market with confidence. The report provides sufficient insights that drive sustainable growth.

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Parameters involved in the Genetic Testing market include:

Segmentation Overview:

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Global Genetic Testing Market, By Disease:

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The report provides an in-depth geographical analysis of the Genetic Testing market, covering important regions, viz, North America, Europe, Asia Pacific, Middle East & Africa, and Latin America. It also covers key countries (regions), viz, U.S., Canada, France, Germany, U.K., Italy, Russia, India, China, Japan, South Korea, Australia, Taiwan, Thailand, Indonesia, Malaysia, Vietnam, Philippines, Mexico, Brazil, GCC, Israel, South Africa, etc.

The competitive analysis section of the report includes prominent players of the Genetic Testing market that are broadly studied on the basis of several key factors.

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Genetic Testing Market: Applications and Regional Insights During the Forecasted Period 2020-2030 - TechnoWeekly

California Governor Pulls the Plug on Genetic Information Privacy Act – JD Supra

Governor Gavin Newsom of California vetoed a bill that would have created new limitations on data sharing for direct-to-consumer genetic testing companies.

The Genetic Information Privacy Act (GIPA) asked testing companies to get informed consent from customers before disclosing their data to third parties. GIPA was aimed as a stop-gap to cover data sharing that is not already regulated by the California Consumer Privacy Act (CCPA) and the federal Health Insurance Portability and Accountability Act (HIPAA).

The final bill gained significant traction in the legislature. It passed both houses without a single vote against it.

In his veto message, the Governor expressed concern about the unintended consequences of the bill. Governor Newsom fears the bill would constrain mandatory reporting of COVID-19 test results to local public health departments and the California Department of Public Health.

California has been exceedingly active in the past few years putting forward innovative regulation of personal information. This veto is an example of the state taking a measured approach to the regulation of health data in the midst of the COVID-19 pandemic.

The Governor signaled that he supports the overall goals of the bill. He directed California state agencies to work with the Legislature on a revised version that takes into account the need to share COVID-19 testing data with authorities.

Putting it Into Practice. This version of the GIPA is put to rest. However, California has signaled it plans to pass a law regulating data sharing for genetic testing companies in the near future. Companies innovating in this area can begin reviewing their existing disclosures and consents with an eye toward getting opt-in consent in the future.

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California Governor Pulls the Plug on Genetic Information Privacy Act - JD Supra

Women’s Excellence Offers Comprehensive Hereditary Cancer Testing in Recognition of Breast Cancer Awareness Month – PR Web

DETROIT (PRWEB) October 19, 2020

While most cancers happen by chance due to a variety of factors, about 10% of the time, cancer is linked to a single change in a gene, or mutation, that has been passed down from family members. This is referred to as hereditary cancer. A person who has inherited a gene mutation associated with hereditary cancer will not necessarily get cancer, but he or she is at a higher risk than those without a gene mutation. People with a mutation in either the BRCA1 or BRCA2 gene have risks of up to 87% for developing breast cancer and up to 44% for developing ovarian cancer by age 70. Womens Excellence is pleased to offer hereditary cancer testing (genetic testing) to help women identify gene mutations that may lead to certain cancers.

Dr. Jonathan Zaidan, MD, FACOG, President of Womens Excellence makes preventative care a top priority for patients at Womens Excellence.

Weve all heard the saying 'Knowledge is Power,' and that is exactly the mantra behind hereditary cancer testing, says Zaidan. Depending on your results, hereditary cancer testing provides us the information we need to create a proactive plan of care. For example, if a patient is positive for certain gene mutations, we may be able to overcome insurance barriers to allow for screening at a much earlier age. This quick and efficient tool can help save lives, and were proud to offer this advanced service at Womens Excellence!

Hereditary cancer testing (genetic testing) is a simple in-office blood test that is analyzed by a specialized laboratory.

To be eligible for genetic testing, patients need to identify their hereditary cancer risk. Womens Excellence offers a quick risk assessment survey at Once the assessment has been completed, Womens Excellence will contact you within 72 hours to notify you on your eligibility for genetic testing.

About Womens ExcellenceWomens Excellence is the most comprehensive obstetric and gynecologic office in Michigan. Additionally, they specialize in menopause, weight control, bladder control, endometriosis, robotic surgery, oncology, and midwifery services. Womens Excellence is committed to staying at the forefront of innovation with cutting edge technologies utilizing robotic surgery and minimally invasive surgical options when possible. The knowledgeable, compassionate physicians and healthcare providers of Womens Excellence focus on patient-centered processes to deliver the highest quality of care. They are affiliated with most insurances. They offer seamless medical record access via a state-of-the-art patient portal and use the latest technology for record keeping and sharing, making the patient experience easier and more efficient. Womens Excellence is taking new patients and is conveniently located throughout southeastern Michigan in Clarkston, Lake Orion, Lapeer, Rochester, Royal Oak, and West Bloomfield. Womens Excellence is also a proud partner of Detroits longstanding radio network, WJR 760AM, providing expert womens health news and information. For more information, visit

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Women's Excellence Offers Comprehensive Hereditary Cancer Testing in Recognition of Breast Cancer Awareness Month - PR Web

Breast Cancer Predictive Genetic Testing Market Industry Development, Growth Opportunities and Demand Analysis : Roche, Thermo Fisher Scientific -…

The globalBreast Cancer Predictive Genetic TestingMarket report offers a complete overview of the Breast Cancer Predictive Genetic Testing Market globally. It presents real data and statistics on the inclinations and improvements in global Breast Cancer Predictive Genetic Testing Markets. It also highlights manufacturing, abilities & technologies, and unstable structure of the market. The global Breast Cancer Predictive Genetic Testing Market report elaborates the crucial data along with all important insights related to the current market status.The report also presents the historic, current and expected future market size, position, of the Breast Cancer Predictive Genetic Testing industry.The report further signifies the upcoming challenges, restraints and unique opportunities in the Breast Cancer Predictive Genetic Testing market. The report demonstrates the trends and technological advancement ongoing in the Breast Cancer Predictive Genetic Testing industry. In addition to the current inclinations over technologies and capabilities, the report also presents the variable structure of the market, worldwide. The study then describes the drivers and restraints for the market along with the impact they have on the demand over the forecast period. The report also highlights technological advancements and product developments that drive market needs. The report contains a detailed analysis of the major players in the market, as well as their business overview, expansion plans and strategies. Key players explored in the report include: CompanyRoche, Thermo Fisher Scientific, PerkinElmer, Quest Diagnostics, Myriad Genetics, Iverson Genetics, Cancer Genetics, OncoCyte Corporation, NeoGenomics, Invitae

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The report has been curated after observing and studying various factors that determine regional growth such as economic,environmental, social,technological, and political status of the particular region. Analysts have studied the data of revenue, production,and manufacturers of each region.this section analyses region-wise revenue and volume for the forecast period of 2020 to 2026. These analyses will help the reader to understand the potential worth of investment in a particular region. The information presented in this report provides an overview of the latest trends and development plans, patterns, and policies observed in the global market. Moreover, the study provides an analysis of the latest events such as the technological advancements and the product launches and their consequences on the global Breast Cancer Predictive Genetic Testing market. Then it provides an overall competitive scenario of the market along with an advance approach to the market growth. The market is segmented by application with historical and projected market share and compounded annual growth rate. The report provides an in-depth analysis of parent market trends, macro-economic indicators and governing factors along with market attractiveness as per segments. The fundamental purpose of Breast Cancer Predictive Genetic Testing Market report is to provide a correct and strategic analysis of the industry. The report scrutinizes each segment and sub-segments presents before you a 360-degree view of the said market.

This section of the report identifies various key manufacturers of the market. It helps the reader understand the strategies and collaborations that players are focusing on combat competition in the market.The Global Breast Cancer Predictive Genetic Testing Market report is a compilation of first-hand information, qualitative and quantitative assessment by industry analysts,inputs from industry experts and industry participants across the value chain. The report also maps the qualitative impact of various market factors on market segments and geographies. The report proves to be an effective tool that players can use to gain a competitive edge over their competitors and ensure lasting success in the global Breast Cancer Predictive Genetic Testing market. All of the findings, data, and information provided in the report are validated and revalidated with the help of trustworthy sources. The analysts who have authored the report took a unique and industry-best research and analysis approach for an in-depth study of the global Breast Cancer Predictive Genetic Testing market. The report provides comprehensive analysis in an organized manner in the form of tables, graphs, charts, pictures and diagrams. Organized data paves the way for research and exploration of current and future market outlooks. Additionally, an expert team of researchers talks about key drivers and restraints that are influencing on the global market growth. Additionally, it offers detailed elaboration on risks, threats, and challenges faced by industries as well as various stakeholders.

Additionally, the report provides an extensive analysis of the key geographical regions of the industry. The regional analysis covers North America, Latin America, Europe, Asia-Pacific, and Middle East & Africa. The report offers insightful information like production and consumption ratio, demand and supply, import and export ratio, and demand trends in each region. The report also covers a country-wise analysis of the segments and sub-segments of the market.

Market segment by Type, the product can be split into:High Penetrant Genes, Intermediate Penetrant Genes, Low Penetrant Genes

Market segment by Application, split into:Hospitals, Clinics, Others

Reason to buy:* Market segmentation analysis including qualitative and quantitative research incorporating the impact of economic and non-economic aspects.* The report assists in realigning the business strategies by accentuate the Breast Cancer Predictive Genetic Testing business priorities.* The report throws light on the segment expected to dominate the Breast Cancer Predictive Genetic Testing industry and market.* Forecasts the regions expected to perceive ascension.* Researchers throw light on the dynamics of the market such as drivers, restraints, trends, and opportunities.* It offers the regional analysis of the Global Breast Cancer Predictive Genetic Testing Market along with the business profiles of several stakeholders.* The newest developments within the Breast Cancer Predictive Genetic Testing industry and details of the industry leaders along side their market share and methods.* Saves time on the entry level research as the report contains principal data concerning about growth, size, leading players and segments of the industry.* Save and cut time carrying out entry-level research by characterizing the growth, size, leading players and segments within the global Market.* Comprehensive company profiles covering the product offerings, key financial information, recent developments, SWOT analysis, and strategies employed by the major market players.

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The Breast Cancer Predictive Genetic Testing market factors described in this report are:Key Strategic Developments in Breast Cancer Predictive Genetic Testing market:The research includes the key strategic developments of the market, comprising R&D, M&A, agreements, new product launch, collaborations, partnerships, joint ventures, and regional growth of the key competitors functioning in the market on a global and regional scale.

Key Market Features in Breast Cancer Predictive Genetic Testing Market:The report assessed key market features, including revenue, capacity, price, capacity utilization rate, production rate, gross, production, consumption, import/export, supply/demand, cost, market share, CAGR, and gross margin. In addition to that, the study provides a comprehensive analysis of the key market factors and their latest trends, along with relevant market segments and sub-segments.

Analytical Tools:The Global Breast Cancer Predictive Genetic Testing Market report provides the rigorously studied and evaluated data of the top industry players and their scope in the market by means of several analytical tools. The analytical tools such as Porters five forces analysis, feasibility study, SWOT analysis, and ROI analysis have been practiced reviewing the growth of the key players operating in the market.

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In conclusion, the Breast Cancer Predictive Genetic Testing Market report is your trusted source for accessing research data that is expected to exponentially accelerate your business. This report provides information such as economic scenarios, benefits, limitations, trends, market growth rates, and figures. The SWOT analysis is also incorporated into the report along with the guess attainability survey and venture revenue survey.

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Breast Cancer Predictive Genetic Testing Market Industry Development, Growth Opportunities and Demand Analysis : Roche, Thermo Fisher Scientific -...

NCI-MATCH Supports Using NGS to Triage Patients to Investigational Therapy – Cancer Network

Findings from the National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH) support the feasibility and efficiency of using next-generation sequencing (NGS) to triage patients to investigational therapy, provided that a sufficiently large pool of agents is made available.1

Importantly, this is the largest data set ever compiled on patients with tumors that have progressed on 1 or more standard treatments, or with rare cancers for which there is no standard treatment.

Our exhaustive efforts to enlist all of the promising agents in NCI-MATCH established a new benchmark for the utility of next-generation sequencing in the conduct of clinical trials, lead author Keith T. Flaherty, MD, a medical oncologist at Massachusetts General Hospital Cancer Center in Boston, said in a press release.2 With time, the efficiency of using tumor genetic testing for broad-based clinical investigation will only increase.

In this study published in the Journal of Clinical Oncology, tumor biopsy specimens from 5954 patients with refractory malignancies at 1117 accrual sites were centrally analyzed using NGS and selected immunohistochemistry in a master screening protocol. Notably, researchers only evaluated treatments which had demonstrated clear evidence of clinical benefit or at least promising preliminary efficacy in the proposed eligibility genotype in any tumor histology.

Overall, molecular profiling was found to be successful in 93.0% of specimens. Moreover, an actionable alteration was detected in 37.6%.

Following the application of clinical and molecular exclusion criteria, 17.8% of specimens were assigned, though 26.4% could have been assigned if all subprotocols had been available simultaneously. As of the study publication, 11 subprotocols had reached their accrual goal.

Notably though, actionability rates differed among histologies; for instance, the actionability rate for urothelial cancers was 35%, while for pancreatic and small-cell lung cancer the actionability rate was 6%. Additionally, multiple actionable or resistance-conferring tumor mutations were seen in 11.9% and 71.3% of specimens, respectively.

According to researchers, these rates may increase as more drugs become available, especially those that target common gene defects.

The 6000-patient analysis from NCI-MATCH describes the genetic complexity that is characteristic of relapsed, refractory cancers, Peter J. ODwyer, MD, a medical oncologist at the University of Pennsylvania and group co-chair of the ECOG-ACRIN Cancer Research Group, said in the release. This publication represents an important milestone in the oncology fields efforts to translate a genetic understanding of cancer into improved treatments.

NCI-MATCH researchers also compared the tumor gene make-up of patients with 7 cancer types against The Cancer Genome Atlas (TCGA), including breast, bile duct, cervical, colorectal, lung, pancreatic, and prostate cancer. Ultimately, there were not many differences observed between the primary and metastatic databases. Known resistance mutations to targeted therapies were found to be numerically more frequent in NCI-MATCH than TCGA tumors, though not markedly so.

In order to better understand the differences in tumor gene make-up between primary and metastatic tumors, the investigators plan to compare the NCI-MATCH patients primary and metastatic tumors moving forward. Multiple treatment arms have also been opened in NCI-MATCH, with 38 arms of research currently ongoing.

NCI-MATCH is a unique and ground-breaking trial that will continue to make major contributions in years to come as genomic findings from individual treatment arms, correlated with outcomes, are released, Lyndsay Harris, MD, translational co-chair of NCI-MATCH and associate director of the Cancer Diagnosis Program and the Division of Cancer Treatment and Diagnosis at the NCI, said in the release.


1. Flaherty KT, Gray RJ, Chen AP, et al. Molecular Landscape and Actionable Alterations in a Genomically Guided Cancer Clinical Trial: National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH). Journal of the National Cancer Institute. doi: 10.1200/JCO.19.03010

2. Genomic study of 6000 NCI-MATCH cancer patients leads to new clinical trial benchmarks [news release]. Philadelphia. Published October 13, 2020. Accessed October 14, 2020.

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NCI-MATCH Supports Using NGS to Triage Patients to Investigational Therapy - Cancer Network

Experts Say Standard Genetic Testing Might Be Cost Effective For Newly Diagnosed Patients With GIST – Chemical Market Reports

Scientists have said that a standard gene testing for patients who have been diagnosed with metastatic gastrointestinal stromal tumors (GIST) will be more cost-effective. They have said that the financial estimate will support the widespread adoption of this approach. A study of genetic tests and modified first-line cure shows that using genetic testing to match the treatment of KIT differences to the imatinib dose is a less expensive way as compared to empirical imatinib. Experts have said that genetic test helps doctors to give chemotherapy in a tumor-specific way. In this case, those patients who do not get any relief from imatinib are given the alternative cure. This study has been published in JAMA Network Open.

The author of the study, David Geffen has said that genetic test is cheap as it avoids futile treatment and low rates of disease growth. He has made a Markov model to match the efficiency of the targeted gene test and modified first-line therapy with imatinib therapy in patients with GIST. The key factor for assessing the cost efficiency of the gene test has been quality of life years (QALY). The cost-efficiency of gene testing is defined by the incremental cost-effectiveness ratio. An incremental cost-effectiveness ratio, which is less than $100000, is considered cost-effective. As per the study, a therapy directed by the gene test is linked with an increase of 0.10 QALYs, at $9513 as compared to empirical imatinib. It leads to an incremental cost-effectiveness ratio of $92100. However, experts have said that the findings are sensitive to the costs of targeted gene tests, drugs, and health utility model efforts.

Experts have said that 70 percent of times, a targeted gene test is quite cost-efficient. The results of the study show that therapy directed by targeted gene tests can be cheaper if it gets hold of more share in the market, as of now imatinib therapy has a larger market share. Experts have advised patients with newly detected GIST that they should go for genetic testing before the start of first-line chemotherapy. They have said that this way patients who do not get any relief from imatinib, can be given a better treatment for their lumps. Experts have said that there is a need for further studies to substantiate the findings.

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Experts Say Standard Genetic Testing Might Be Cost Effective For Newly Diagnosed Patients With GIST - Chemical Market Reports

Direct-to-consumer Genetic Testing Market | Global Industry Analysis By Trends, Size, Share, Company Overview, Growth And Forecast By 2026 – PRnews…

The Global Direct-to-consumer Genetic Testing Market analysis report published on is a detailed study of market size, share and dynamics covered in XX pages and is an illustrative sample demonstrating market trends. This is a latest report, covering the current COVID-19 impact on the market. The pandemic of Coronavirus (COVID-19) has affected every aspect of life globally. This has brought along several changes in market conditions. The rapidly changing market scenario and initial and future assessment of the impact is covered in the report. It covers the entire market with an in-depth study on revenue growth and profitability. The report also delivers on key players along with strategic standpoint pertaining to price and promotion.

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The Global Direct-to-consumer Genetic Testing Market report entails a comprehensive database on future market estimation based on historical data analysis. It enables the clients with quantified data for current market perusal. It is a professional and a detailed report focusing on primary and secondary drivers, market share, leading segments and regional analysis. Listed out are key players, major collaborations, merger & acquisitions along with upcoming and trending innovation. Business policies are reviewed from the techno-commercial perspective demonstrating better results. The report contains granular information & analysis pertaining to the Global Direct-to-consumer Genetic Testing Market size, share, growth, trends, segment and forecasts from 2020-2026.

With an all-round approach for data accumulation, the market scenarios comprise major players, cost and pricing operating in the specific geography/ies. Statistical surveying used are SWOT analysis, PESTLE analysis, predictive analysis, and real-time analytics. Graphs are clearly used to support the data format for clear understanding of facts and figures.

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The report segments the Global Direct-to-consumer Genetic Testing Market as:Global Direct-to-consumer Genetic Testing Market Size & Share, by Regions

Global Direct-to-consumer Genetic Testing Market Size & Share, by ProductsDiagnostic ScreeningPrenatal, Newborn Screening, and Pre-Implantation DiagnosisRelationship TestingDirect-to-consumer Genetic Testin

Global Direct-to-consumer Genetic Testing Market Size & Share, ApplicationsOnlineOffline

Key Players23andMeMyHeritageLabCorpMyriad GeneticsAncestry.comQuest DiagnosticsGene By GeneDNA Diagnostics CenterInvitaeIntelliGeneticsAmbry GeneticsLiving DNAEasyDNAPathway GenomicsCentrillion TechnologyXcodeColor GenomicsAnglia DNA ServicesAfrican AncestryCanadian DNA ServicesDNA Family CheckAlpha BiolaboratoriesTest Me DNA23 MofangGenetic HealthDNA Services of AmericaShuwen Health SciencesMapmygenomeFull GenomesDirect-to-consumer Genetic Testin

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Preimplantation Genetic Testing Market Outlooks 2020: Industry Analysis, Market Segmentation, Challenges and Opportunities to 2027 – The Think…

The latest market report published by Reports and Data, titled Global Preimplantation Genetic Testing Market, presents an accurate analysis of the estimated market size, share, revenue, and sales & distribution networks of the global Preimplantation Genetic Testing market over the forecast period. The report offers an exhaustive overview of the market, along with a precise summary of the markets leading regions. Our team of analysts has studied the existing competitive landscape of the market inside out, focusing on the leading companies and their business expansion strategies. The report ends with conclusive data offering useful insights into the market growth on both regional and global levels.

The report covers extensive analysis of the key market players in the market, along with their business overview, expansion plans, and strategies. The key players studied in the report include:

Illumina Inc.; Thermo Fisher Scientific, Inc.; Natera, Inc.; Bioarray S.L.; Good Start Genetics, Inc.; Laboratory Corporation of America Holdings; California Pacific Medical Center; Quest Diagnostics Incorporated; CooperSurgical, Inc.; Genea Limited; IGENOMIX; Reproductive Genetic Innovations, Reproductive Health Science Ltd.

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The report draws the focus of the reader on the grave impact of the ongoing COVID-19 pandemic on the Preimplantation Genetic Testing industry and its vital segments and sub-segments. It elaborates on the adverse effects of the pandemic on the global economic scenario, as well as this particular business sphere. The report takes into account the key influencing factors influencing market performance in the present COVID-19 times. The market has been substantially affected by the pandemic, and significant changes have been observed in the market dynamics and demand trends. The report examines the major financial difficulties brought about by the pandemic and offers a future COVID-19 impact assessment.

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Test Type (Revenue, USD Million; 20162026)Preimplantation Genetic Diagnosis (PGD)Preimplantation Genetic Screening (PGS)Type (Revenue, USD Million; 20162026)Chromosomal AbnormalitiesX-linked DiseasesEmbryo TestingFresh Embryo (Own Eggs)Frozen Embryo (Own Eggs)Fresh Embryo (Donor Eggs)Frozen Embryo (Donor Eggs)Aneuploidy ScreeningHLA TypingOther PGT TypesApplication (Revenue, USD Million; 20162026)Embryo HLA Typing for Stem Cell TherapyIVF PrognosisLate Onset Genetic DisordersInherited Genetic DiseaseOthersEnd Use (Revenue, USD Million; 20162026)Maternity Centers & Fertility ClinicsHospitals, Diagnostic Labs, and Service ProvidersResearch Laboratories & Academic Institutes

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Preimplantation Genetic Testing Market Outlooks 2020: Industry Analysis, Market Segmentation, Challenges and Opportunities to 2027 - The Think...

Bionano Genomics Releases Major Update to Its Suite of Software Tools That Simplifies Clinical Analysis, Reduces Time to Actionable Results and Makes…

SAN DIEGO, Oct. 21, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics (NASDAQ: BNGO) announces the most significant update to its suite of software tools for data analysis since the launch of Saphyr in 2017. This version of Bionano Access contains over 100 new features and revisions designed to simplify and accelerate every step in the data analysis workflow and make Bionano data easier to interpret. The update is available now as a free download and will be included with Saphyr systems going forward. With these enhancements, it is expected that clinical labs that adopt Saphyr can more readily develop assays for a wide range of genetic diseases, including tests for pediatric neuro-developmental disorders, liquid biopsies for blood cancers like leukemias, lymphomas and multiple myeloma and tests for solid tumors as well.

Current clinical standards of care for diagnostic testing in genetic disease and cancer are based on a series of medical guidelines that recommend structural variation (SV) analysis as first-tier testing. For genetic disease, chromosomal microarray (CMA) analysis is first tier and karyotyping (KT) and fluorescence in-situ hybridization (FISH) are used as reflex tests. Medical guidelines for testing in heme malignancies recommend using KT as first tier testing, alongside some rapid FISH assays and FISH panels, and recommend using CMA as reflex tests. In multiple publications and presentations, Saphyr has been shown to provide a single test that is 100% concordant with the testing methods currently recommended by these guidelines, which requires the use of three different technologies. To-date, this capability has not been shown by any other genome analysis platform. Saphyr has been shown to be significantly more sensitive and specific for SVs than next-generation sequencing (NGS) and to outperform long-read sequencing platforms from PacBio and Oxford Nanopore Technologies. This software updates further enhance Saphyrs unique advantages for customers.

Building on the success of Bionano EnFocus FSHD Analysis tools that automate the analysis of variants in a form of muscular dystrophy, this update is expected to be a key step forward in finalizing other EnFocus panels that automate analysis of variants in patients with genetic diseases, including autism spectrum disorder, developmental delay and repeat expansion disorders, patients with various heme malignancies, such as AML and CLL leukemias, and patients with solid tumors. This new version of the software makes it possible for Bionano EnFocus FSHD to run on the PC that ships with the Saphyr instrument without the need for cloud-based analysis or costly compute clusters. However, for analysis run on Bionanos cloud-based Compute On Demand, the updated software is more efficient, expands capacity and reduces the analysis time, in some cases by threefold. For discovery research, like in cancer research where exceptional sensitivity is essential, cloud-based analysis now finishes in hours rather than in days.

Mark Oldakowski, Chief Operating Officer of Bionano Genomics, who led the development of the software commented: With the improvements to our analysis and visualization software announced today, Saphyr continues to increase its lead as the most powerful genome analysis platform for the detection of structural variants and copy number variations in human genomes and complex cancer samples. Saphyrs unique ability to detect structural variants down to 1% allele fraction, genome-wide and unbiased, without enrichment or amplification and with the highest sensitivities and lowest false positives is unmatched by current short or long-read sequencing technologies. The new capabilities and improvements to our software further simplify and speed up the analysis and interpretation of clinical samples and we believe that these updates may help accelerate Saphyrs adoption for Next-Generation Cytogenomics in the estimated 2,500 cytogenetics labs around the world.

Bionano Solve v3.6 and Bionano Access v1.6 are available for download 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: the improved performance of our technology as a result of the recent software update; increased adoption of Saphyr resulting from this update and other recent updates; the ability of our technology to support future development of assays by clinical laboratories; Saphyrs capabilities in comparison to other genome analysis technologies and potential to replace traditional cytogenetic technologies; the accelerated adoption of Saphyr for Next-Generation Cytogenomics in cytogenetics labs; and the advancement of our strategic objectives. 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 Genomics Releases Major Update to Its Suite of Software Tools That Simplifies Clinical Analysis, Reduces Time to Actionable Results and Makes...

What is the BRCA gene and should you get tested for it? – Houston Chronicle

It wasnt so long ago that doctors refrained from calling breast or ovarian cancers by name.

After patients mostly women died from the disease, family often avoided talking about it, said Dr. Arlene Ricardo, breast cancer surgeon at Memorial Hermann Southwest Hospital.

Until about 30 years ago, most women did not know their familys history of breast, ovarian or other gynecological cancers. They had no idea what to expect in mid-life, Ricardo said.

A lot has changed in three decades: The stigma of talking about cancer has faded; the mortality rate for breast cancer has dropped; and genetic testing can now show patients whether they have genes that can cause specific cancers.

On Do I need a mammogram?

A gene mutation is an alteration in a persons DNA pattern that puts them at a higher risk for certain diseases. There are 10 genes that increase a womans risk of breast cancer. The two most common genes are referred to as BRCA1 and BRCA2 genes, Ricardo said.

Less than 1 percent of the population carries one of these mutations, and only 5 percent of all breast cancers are associated with these genes, she said. But those that do test positive for the mutation are 58 percent more likely to develop breast cancer by the time they turn 50, and up to 90 percent after the age of 70.

You must have one known gene mutation in the family

You have been diagnosed with breast cancer less by the age of 45

You have been diagnosed with two cancers (i.e. two breast cancers) before the age of 50

You are younger than 50 and have two relatives diagnosed with breast or prostate cancer

You are younger than 60 and are diagnosed with triple-negative breast cancer

You have a family member that was diagnosed with breast cancer when they 50-years-old or younger

You or a family member have been diagnosed with ovarian cancer

There is an instance of male breast cancer in your family

Source: Memorial Hermann

Its almost a guarantee that you will develop breast cancer with the mutation, Ricardo said. For ovarian cancer, its 25 percent by the time you reach 50-years-old and 60 percent by the time you reach 70 extremely high risk.

Actress Angelina Jolie announced in 2013 that she was positive for the BRCA1 gene and underwent a preventive double mastectomy. Since then, more women have asked about genetic testing but not just anyone qualifies for it, Ricardo explained.

BRCA1 and BRCA2 genes also increase the risk of fallopian tube cancer, peritoneal cancer and pancreatic cancer. One out of every 100 men with these genes will develop breast cancer or prostate cancer, according to the American Cancer Society.

In 2016, researchers found that Jolies announcement increased genetic testing recommendations and preventive measures by oncologists, including risk-reducing surgeries for BRCA carriers with breast cancer.

More women have asked for genetic testing in the last decade, but the practice is not as common, or as necessary, as annual mammograms, Ricardo said.

Unfortunately, most people learn about their mutations because they have already been diagnosed with breast cancer.

In Yolanda Espericuetas case, it was triple-negative breast cancer a fast-spreading variation of the cancer with limited treatment options and a high mortality rate at the age of 59.

While triple-negative breast cancers account for 10 to 15 percent of all breast cancers, they are more common in women younger than 40, Black women and those who have a BRCA1 mutation, according to the American Cancer Society.

Espericueta never felt a lump in her breast. Neither did her doctors when her annual mammogram came back with evidence of a mass.

I remember I was working when the doctor called me to confirm it was breast cancer, Espericueta said. What hurt me the most was thinking about how I would break the news to my family. I was more terrified of that (than the cancer).

Espericueta met two of the criteria needed for genetic testing: her triple-negative breast cancer diagnosis before the age of 60 and a sister dying of ovarian cancer in her 30s. She tested positive for the BRCA-1 gene after her diagnosis.

On Rare, but not impossible: Male breast cancer remains low, but mortality rates are much higher than women

Espericueta underwent six months of chemotherapy before undergoing a double mastectomy and reconstructive urgery in mid-2019. She lost all of her long curly hair in the process, which she remembers as being one of the hardest parts.

She had one daughter, Jennifer Alba, whom she raised mostly on her own. Alba was 35 when her mother was diagnosed, and later that year, she too tested positive for the BRCA-1 gene.

When (my mother) found out, she felt guilty; she felt like she gave it to me, Alba said. But I told her that the only thing she gave me was a silver lining. Now at least, I can do something about it ahead of time.

Alba and has either a mammogram or MRI every six months. The plan was to have a double mastectomy and a hysterectomy after she was married earlier this year, but COVID-19 has caused her to reschedule until early 2021.

The hardest part was the necessary decision to stop trying to have more children, said Alba, who has a 6-year-old son and a 3-year-old daughter.

Im 36, and (my husband is) 43; were not in our 20s, so it felt like a good point to stop, but this made the decision for us, she said. Its taking the decision away from you like it or leave it.

Ricardo said identifying people with mutated genes after their cancer diagnosis is important because it will lead to relatives who may be at risk, which gives them time to prevent the cancers from occurring at all.

And its not only women who will be affected men who test positive for the gene may not develop breast or prostate cancers, but they can pass the gene to their children.

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People forget that males eventually father female children, she added. Its all children male, female, sisters, brothers. If you test someone with the mutation, each individual family member has a 50-50 chance of having it.

When her children are old enough, Alba plans to talk to them about the need for genetic testing.

Its not going to affect them any time soon, but I will tell them about my journey and my moms journey and guide them in their decision making, Alba said.

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What is the BRCA gene and should you get tested for it? - Houston Chronicle

Genetic testing helps New Albany woman ‘win the battle before it starts’ – Northeast Mississippi Daily Journal

NEW ALBANY Brittany Martinez-Clark was only 30 years old when genetic testing during her annual checkup showed she had an 80% chance of having breast cancer at least once by the time she was 50.

It was late December 2018, and by January, she learned the results showed she was positive for BRCA2 gene, which makes the risk of having heredity ovarian or breast cancer increase significantly.

As a family nurse practitioner and owner of the Family Clinic of New Albany, she knew what her choices were.

It was terrifying when they called me because I already knew in the health field what the recommendations were for that, which is a mastectomy, Martinez-Clark said. I was like, Im 30 years old, I want to have another baby. There were a whole lot of questions that came with that.

Three aunts on her paternal side had breast cancer. When one aunt did not have a mastectomy after her breast cancer diagnosis, Martinez-Clark said the breast cancer came with a vengeance early this year as stage 4 cancer, which is still being treated. What ultimately motivated her to pursue a prophylactic mastectomy was thinking about her then 2-year-old son.

It was OK, this is why. I dont ever have to worry about getting that news now. I didnt want my family to have to go through what Ive seen my other family members, and what Ive helped them through with their cancer diagnosis because its hard, and its scary, Martinez-Clark said. Just the thought of not being there for my son was immensely scary to me knowing that he wont ever have to worry about me getting breast cancer is worth it.

Martinez-Clark met with a surgeon in Tupelo, but ultimately had her general surgery and reconstruction completed in Nashville with Drs. Sirinya Prasertvit and Jacob Unge, respectively. She took flights from Tupelo to Nashville for each appointment.

Everything about Martinez-Clarks life changed during this time. After the mastectomy, she had drainage tubes placed on each side to help her heal properly, and her husband and mother had to help her change dressings. She went from having a busy life running her clinic of approximately 20 employees, caring for her toddler and dealing with daily tasks to putting everything on hold for a solid two months. She spent four weeks in recovery, and there was another four weeks where she couldnt lift more than 10 pounds something that put returning to work out of question.

She also wasnt able to take care of her son by herself, which was hard because the two were thick as thieves, Martinez-Clark said.

I had to learn how to ask for help and let somebody help me. Im really bad at that, but I had to, Martinez-Clark said.

Family and friends became essential during this time. Her husband, Trent Clark, helped find surgeons who accepted their insurance, and offered her both emotional and physical support. Martinez-Clarks mother moved in with her after her first surgery to help with her son and run her business. This provided an opportunity for the two of them to connect in a way they hadnt in years.

Her aunts were also immensely helpful in helping her find peace with her decision to seek early treatment. She remembers asking her Aunt Jan, who had already battled stage 4 breast cancer, if she would make the same decision when she was 30 years old if she knew everything she would go through.

The answer: In a heartbeat.

Martinez-Clark said the memory of sitting with her in the cancer center when she first underwent chemotherapy makes her thankful genetic testing is available for women at high risk of developing hereditary breast cancer.

I think knowledge about your family history, your personal medical history, especially if youve undergone the genetic testing and you know these things upfront, then thats power to fight it, and you win the battle before it starts, Martinez-Clark said.

During her treatment, her church family brought Martinez-Clark a bounty of food. But despite the support, Martinez-Clark said she tried not to make a big deal out of it since she didnt have breast cancer.

She has since learned to think of herself as a pre-vivor.

I decided its OK to acknowledge that I did go through something and (am) making a difference for the future of my health, she said.

If not for the screening questionnaire at her annual screening, Martinez-Clark believes she never would have considered seeking a prophylactic mastectomy and treating breast cancer before being diagnosed. An initial MRI did not reveal much, and while there was one area that was tested after surgery, everything came back negative.

Now, Martinez-Clark sees her story as a way to dispel myths that surround breast cancer. One is the idea that a preventative mastectomy would affect fertility. Martinez-Clark is expecting a daughter and said she is glad to show surgery didnt hurt her chances of having another child.

While doctors recommend she have a total hysterectomy at 35, she said it is a decision she will approach when the time comes.

Another myth is the idea that the paternal familys history of cancer isnt as important in inheriting breast cancer; while her mothers side of the family had some breast cancer history, her fathers side has a much higher prevalence of familial cancer.

Martinez-Clark said she wants to fight breast cancer however she can, whether through educating people on the subject of genetic testing, volunteering for school supply drives with her clinic, or just filling a need in the community.

Although much of her life is unchanged post-mastectomy, Martinez-Clark said she has become a lot more confident. Shes even used her experience to change how she and her employees treat and counsel patients. Since her clinic provides a lot of primary care and sees many people of lower socioeconomic status who cannot see a regular OB-GYN, she has educated her patients on options they have if facing breast cancer themselves.

Its still kind of newer health information, the genetic testing, and what the options are for it, so the unknown is scary for a lot of people, Martinez-Clark said. Thats why its important to get this information out and help people know that its available and to be proactive in accessing their health status and in making choices to move forward with it.

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Genetic testing helps New Albany woman 'win the battle before it starts' - Northeast Mississippi Daily Journal

Is gene therapy ready to treat some forms of autism? – Science Magazine

By Lydia Denworth, Spectrum, Brendan Borrell, SpectrumOct. 14, 2020 , 11:30 AM

Originally published onSpectrum

Allyson Berentis a specialty veterinarian in New York City. She treats animals that other doctors cannot help. When no good therapies are available, she invents one. Cats and dogs consumed almost all of her timeuntil 6 years ago, when her second daughter was born.

As a baby, Quincy appeared healthy and happy, smiling at an early age and giggling frequently. But during her first few months of life, she missed many developmental milestones: At 10 weeks, she was not making eye contact. When her parents waved toys in front of her, she stared blankly. She had trouble feeding. And when she was lying on her stomach, she could not lift her head.

Doctors kept tellingBerentand her husband to give it time, but the couple insisted on genetic testing: At 7 months old, their daughter was diagnosed withAngelman syndrome, a neurodevelopmental condition that affects as many as one in 12,000 people.

Most people with Angelman syndrome have severe intellectual disability. They never talk or live an independent life. They experience seizures, gut issues, and sleeping and feeding difficulties. Due to balance and motor problems, they are usually unable or barely able to walk. Many also meet the diagnostic criteria for autism.

Within days of learning her daughters diagnosis, Berent set herself a new goal: curing Quincy. With her medical background, she had no trouble parsing the scientific research on Angelman syndrome. She learned that it stems from a missing or mutated copy of a gene calledUBE3A, which generates a protein essential for healthy brain activity. People inherit two copies of UBE3A, one from each parent, but the paternal copy is typically silent. In about 70% of people with Angelman, the maternal copy is absent, and they produce none of the protein. Many others with the syndrome have a small mutation in the mothers copy, rendering it ineffective.

Eager to learn as much as she could, Berent set an alert for "Angelman"in her account with PubMed, the medical journal database. Almost immediately, in December 2014, a paper landed in her inbox that suggested a bold path forward: Researchers had found a way,using snippets of RNAthat bind to DNA, to activate the silent copy of UBE3A in a mouse model of Angelman syndrome. And activating the paternal copy of the gene had reversed memory problems in these mice. Could the same thing be done for Quincy? I went out on a mission to say that I was going to ensure that happened for her, Berent says.

In March of this year, a child with Angelman syndrome received the first dose of a therapy similar to the one used in the mice. The therapy, dubbed GTX-102, comes from a company called GeneTx Biotherapeutics, founded by Berent and other Angelman parents. Berent also works with a foundation to accelerate other therapies aimed at boosting the missing protein at the heart of Angelman.

GTX-102 is one of a fast-growing number of gene therapies coming to market. Gene therapies replace, repair, activate or silence a gene sequence underlying a condition, rather than addressing its traits. Traditionally, the term "gene therapy"applied only to gene replacement, but as a variety of approaches have shown promise, the phrase has come to refer to all treatments that target DNA or RNA.

Gene therapies are now moving into the autism space, and the Angelman trial is a sign of things to come. A success in this space will completely change the way that we think about genetic testing in autism, saysTimothy Yu, a neurologist and geneticist atBoston Childrens Hospital in Massachusetts. It will hold out the idea that if you can name the disease, you can actually do something to improve the quality of life for that child.

Other companies are developing gene therapies for Angelman that are similar to GTX-102.In late August, Roche launched a clinical trial for its Angelman drug, and a therapy from Ionis Pharmaceuticals and Biogen is nearing human testing.The first gene therapy trial forRett syndrome, another single-gene condition related to autism, could start as early as next year. And a variety of experimental gene therapies for additional autism-linked conditions, includingfragile X syndromeandtuberous sclerosis,are under investigation in animal models. These treatments all target conditions involving just one gene, but some of what scientists learn from developing them pertains to a range of related conditions, including autism that results from more complex causes.

The initial trials of the GeneTx treatment, as with other early-stage tests, are arbiters of safety only. The trial, given the cheeky name KIK-AS, will have just 20 participants, and it will take at least until 2022 before the compound reaches large-scale clinical trials in children, at which point it will be evaluated for its efficacy. Even if a drug passes preliminary testing, it still might not work, or it may work only if started at birth or in the womb.

In other words, it might be too late for Quincy. Berent is clear-eyed about the challenges, but optimistic. I think this could be ground-breaking, she says.

Joint effort:Quincy, 6, has applied to participate in a trial of a gene therapy her mother, Allyson Berent, helped develop.

Until a few years ago, the idea of curing genetic conditions such as Angelman syndrome seemed outlandisheven irresponsible. No one wanted to sow false hope for families. There is already a dearth of treatments for conditions such as these. Their roots in the brain are complex, and getting gene therapies into the brain poses its own unique challenges. The blood-brain barrier, which protects the organ from harmful substances, complicates the delivery of any potentially therapeutic compound.

But unlike most causes of autism, syndromes such as Angelman, Rett, and fragile X have a clear therapeutic targetat least in theory. They can all be traced to one dysfunctional gene and either too much or too little of the protein it encodes.

In classic gene therapy, researchers insert a working version of a missing or mutated gene into an individuals cells. Generally, they load the healthy gene onto a harmless virus and inject it into a person; the virus infects their cells, delivering the new gene with it, and the cells begin to produce the missing protein. In 2017, the U.S. Food and Drug Administration (FDA) approved this type of gene therapy for vision loss and two types of cancer, and it has since given the green light to another two gene therapies.

One of these therapies, onasemnogene abeparvovec (marketed as Zolgensma), treats a neurodegenerative condition called spinal muscular atrophy that leads to the death of motor neurons early in life. Babies with the most serious form of the condition rarely live past their second birthday; others are never able to walk. If children receive a one-time infusionof Zolgensma, currently approved in individuals up to age 2, however, their motor neurons take up a working copy of the gene mutated in the condition, bolstering the cells survival and staving off the conditions consequences. The treatment, approved last year, demonstrated that a gene therapy could effectively reach brain cells, courtesy of an adeno-associated virus called AAV9 that crosses the blood-brain barrier.

Traditional gene therapies for Angelman and other genetic forms of autism are still in the early stages of development. But researchers have already delivered a gene for the protein missing in fragile X syndrome to mouse models of the condition. Thetreatment eased or reversedabnormal motor activity and anxiety problems in the animalsin a 2016 studyled by pharmacologistDavid Hampsonof the University of Toronto in Canada. Hampson is collaborating with biotech firms to test the therapy in people with fragile X syndrome, which is the most common inherited form of intellectual disability. There are strong incentives for moving into trials, he says.

Other therapies in the pipeline aim to control gene expression, and therefore how much protein a cell makes, rather than correcting a faulty genes DNA sequence. In one approach, including GeneTxs treatment for Angelman, short strings of modified DNA or RNA called antisense oligonucleotides home in on a genes RNA readout and change or disable its protein-making instructions. A promising feature of these molecules is that they are like switch hittersthey can turn production of a problematic protein on or off as needed.

GTX-102 works by interfering with the natural genetic brake that silences the paternal copy of UBE3A. In effect, it inhibits the inhibitor, thereby activating the gene.

A success in this space will completely change the way that we think about genetic testing in autism.

Three years before Zolgensma, the FDA approved an antisense oligonucleotide for spinal muscular atrophy called nusinersen and marketed as Spinraza. The drug, injected directly into the cerebrospinal fluid, binds to the RNA for a second motor neuron gene that, like the gene targeted by Zolgensma, encodes the protein missing in the condition. The binding alters the RNAs genetic instructions to boost production of the protein.

Because the drug compensates for, rather than corrects, the conditions underlying genetic fault, the more than 10,000 people worldwide who get Spinraza shots must take it every four months. But many have either regained or preserved their ability to stand, hold their head up or even walk. And if given early enough, the drug may protect children from the most severe aspects of the condition, orprevent them from developing it, according to preliminary results of a clinical trial that started in 2015.

Yet another strategy makes use of DNA-binding zinc finger proteins to boost the expression of specific genes. In July, Sangamo Therapeutics in Brisbane, California, announced a $720 million partnership with the drug maker Novartis to develop therapies that dial up the expression of three genes linked to autism andintellectual disability, although Sangamo has declined to name which genes the companies are targeting.

And gene-editing techniques might also be tapped to suppress gene expression or even correct mutations. In one study, researchers attached the gene-editingtechnology CRISPR/CAS 9to ananoparticleto disrupt the gene for mGluR5 receptors for theneurotransmitterglutamate, implicated in fragile X syndrome and other forms of autism. And one potentialprenatal therapy for Angelman syndromeharnesses the same gene-editing molecules to disable the RNA that muffles expression of UBE3A. In an unpublished study, injecting viruses carrying a CRISPR complex into the brains of fetal mice led tosome UBE3A expressionin neurons. It works incredibly well, and it lasts for a long time, saysMark Zylka, the neurobiologist at the University of North Carolina at Chapel Hill who led the work.

For all the promise of these strategies, moving from mice to people often delivers disappointment. The flagship example is thefailure of a clinical trialfor atreatment for fragile X syndromethat targeted mGluR5 receptors. Some 40 laboratories had produced promising results in mice. It looked like the perfect drug to translate into people, says pediatric neurologistElizabeth Berry-Kravisof Rush University Medical Center in Chicago, Illinois. How could it fail? And yet it did.

In retrospect, Berry-Kravis says, the trial design was flawed in part because researchers tested the drug in adults and adolescents even though young children are most likely to benefit. In developmental disorders, Berry-Kravis says, the money is in getting the kids as young as possible.

Berent was uniquely qualifiedand determinedto bridge the gap from animals to people for Angelman. Working at the Animal Medical Center, a research-oriented hospital in New York City, she was well-versed in animal research and regularly collaborated with scientists and doctors to test medical devices in animals. If I can do anything, I can take that animal work and translate that to humans, she says.

Her experience as a mother gave her little faith in what medicine might offer without her involvement. From birth, Quincy did not nurse as readily as her older sister had. At 1 month old, she was aspirating milk and struggling to breathe, so her parents took her to the emergency room. She was discharged after 8 days on a feeding tube. But back at home, Quincys suckle remained weak. It was just liquid going into her mouth, and we were lucky that she swallowed it, Berent says.

She and her husband, also a veterinarian and researcher, grew increasingly distraught reading weekly emails they had signed up for that described developmental milestones they should have been noticing. Doctors kept dribbling out piecemeal answers. Their pediatrician, for example, suggested Quincys lazy eye or too little time spent lying on her stomach might explain her motor and sensory delays. Berent and her husband were sure their daughter had a more serious condition.

Even a neurologist the family saw took a narrow view of Quincys problems. He looked only for signs of brain swellingand found none. Against that doctors advice, they pursued genetic testing. Several weeks later, in late November, Berent got a call from a doctor who said he had catastrophic news. Quincy had Angelman syndrome, he soon told them in person.

Berent had never heard of it. She typed it into Google and found listed all of the characteristics she had seen in her daughter: a lazy eye, a flattened head, feeding problems, even irrepressible good humor. She was like the poster child for this, she says. I realized at that moment that I would always know more about my child and that disorder than any physician would.

Within days, Berent calledArthur Beaudet, the geneticist who had led the Angelman mouse study when he was at Baylor College of Medicine in Houston, Texas, to find out what the next step was. Allyson wanted to talk about a cure from the moment she knew what she was dealing with, he says, recalling their initial conversation. Beaudet explained to Berent that the therapy was in the hands of Ionis Pharmaceuticals, which had provided him with the molecules to test. But the company had a track record of working with parentsit was about to launch Spinrazaand so Beaudet connected Berent withFrank Bennett, chief scientific officer at Ionis, who had helped develop that drug.

How could she help? Berent asked Bennett. He suggested she spearhead efforts to access and verify data on the typical course of the disease. Those data could serve as a benchmark in future clinical trials. Berent got to work but, as time wore on, realized Ionis was unlikely to follow a mothers timeline, driven solely by urgency. If you are 50thin the pipeline, when are they going to get to you? she says.And there were already delays. According to Beaudet, the company was struggling to produce a mouse with the human UBE3A gene to test its oligonucleotides. (An Ionis spokesperson says its Angelman candidate was a priority at the time.)

Over the next few months, though, Berent learned of other groups exploring gene replacement and other therapies for Angelman. As she delved into the science and circulated at conferences, she began to sense a gap in the efforts to jump from the lab to real-life treatments for children such as Quincy.

At a scientific meeting on Angelman in Chicago in 2015,Paula Evansnoticed Berent furiously typing up notes and taking pictures of slides. Evans, a former real-estate agent whose daughter has Angleman, established theFoundation for Angelman Syndrome Therapeutics (FAST)based in Downers Grove, Illinois. The actor Colin Farrell, whose son has Angelman, is its de facto spokesperson. But even against that celebrity backdrop, Berent stood out. I could tell by watching her that she was going to be a force within the Angelman community, Evans says. And in Evans, Berent saw a like mind: She had every intent of doing exactly what I hoped would be done, Berent says.

Evans invited Berent to serve on the FAST board and, by early 2016, to be the foundations chief science officeran unpaid position. Berent was pregnant with her third daughter, running a full-time veterinary practice and juggling various research projects, but she says there was no way she could refuse. In her off-hours and on vacation days, she reviewed the foundations research. She and the FAST team created what they called a Roadmap to a Cure, which meant supporting six academic research teams on different therapeutic tacks, including antisense oligonucleotides and traditional gene therapy.

To pay for the effort, FAST upped its fundraising, and Berent too brought her money game. She hired a development firm to find big donors and struck up a Facebook friendship with another Angelman parent, who turned out to be part of the family behind Grand Marnier liqueur. In 2016, the Marnier-Lapostolle Foundation donated $5.8 million to FAST. With funding in place, Berents job shifted to project manager, keeping all six teams on track. It kept us on task in an unbelievable way, saysScott Dindot, a geneticist at Texas A&M University in College Station. She deserves all the credit.

My middle name is ASAP, Berent says. Chop-chop.

Pipetting progress:Researchers are exploring a host of gene therapies for autism-related conditions in the lab.

By the time Berent created her road map, another mother,MonicaCoenraads, was already 16 years deep into a comparable attempt to cure Rett syndrome. When Coenraads daughter Chelsea, now 24, was diagnosed with Rett at age 2, the cause of the syndrome was unknown. Researchers soon discovered the faulty gene at its core:MECP2.

Mutations in MECP2 lead to low levels of functional MECP2 protein, a master regulator of gene expression. As a result, people with Rett have wide-ranging difficulties, such as intellectual disability, motor and breathing problems, and, often, autism. Because MECP2 is on the X chromosome, the condition affects girls almost exclusively. Boys have only one X chromosome and one copy of MECP2. When that copy is mutated, it can cause such severe traits that they rarely live past early infancy.

Like many other girls and women with Rett, Chelsea is nonverbal and cannot use her hands. She is fed through a tube and has frequent seizures. She also haschronic sleep problemsand severeanxiety. Although some women with Rett can walk independently, Chelsea never has. Shes completely dependent on me for everything, Coenraads says.

Coenraads quest began as soon as Chelsea was diagnosed. In 1999, Coenraads created the Rett Syndrome Research Foundation to channel her efforts. Then, in 2008, she started yet another organization, theRett Syndrome Research Trust, to focus exclusively on finding a cure. Over the past 10 years, she has raised more than $60 million to support research on a host of gene therapies for Rett, including gene replacement and gene editing. In 2014, the trust established a consortium of gene therapy experts and Rett researchers. Our goal is to try to act as an incubator or accelerator, Coenraads says. Weve been pretty aggressive in terms of funding a number of different strategies, because we dont know which one is going to work.

So far, the effort has yielded two gene-therapy candidates. The first, which would deliver a functional MECP2 gene to cells, was supposed to go to trial in 2019. That was put on hold when the FDA accused AveXis, the company running the trial, of data manipulation in connection with another one of its drugs. The company fired several executives and started fresh. In August, AveXis reported to the Rett community that its preclinical studies were almost complete and that it aims to file an investigational new drug application, the precursor to a clinical trial, in the coming months.

Taysha Gene Therapies is shepherding the second Rett drug prospect, slated to enter clinical trials sometime next year. Tayshas technology would also deliver a working MECP2 gene to cells and includes a molecular device that calibrates how much protein is produced. This control is critical: Too little MECP2 protein leads to Rett, but too much results in MECP2 duplication syndrome, a condition that also causes intellectual disability, seizures, and autism traits. The new therapy acts more like a knob than a sledgehammer, saysClaire Aldridge, who leads business development at the University of Texas Southwestern Medical School in Dallas, Tayshas partner in the project.

Coenraads organization also supports research on other genetic approaches. Because women with Rett have a healthy, inactive copy of MECP2, some researchers are trying to reactivate it using CRISPR. The enzyme is designed tomodify DNA to turn on expression, a technique the same researchers have used successfully with fragile X. Editing RNA represents another strategy, which biochemistGail Mandelof Oregon Health and Science University in Portland is exploring. She aims tocorrect the mutation in the RNAtranscript for MECP2, using RNA "guides."The guides escort an editing enzyme into cells, hijacking the natural editing process. The techniquewhich so far has worked in cultured cells and in miceeliminates the risk of overexpressing the MECP2 protein because, unlike DNA, unused RNA degrades quickly.

Researchers at Ionis and Baylor College of Medicine are also developing a therapy for MECP2 duplication syndrome in which antisense oligonucleotides silence the extra copy of MECP2 affected people carry. In 2015, the Baylor team showed that delivering the therapy to a mouse model repaired molecular defects characteristic of the condition andeased lethargy, anxiety,and unusual social behaviors in the mice. The technology can be delivered in controlled amounts and is also reversible, Bennett says. If we happen to overshoot, we can withdraw the drug and [the level of protein] reverses back. That gives us a lot of hope.

In addition to looking at dose, researchers are also testing the timing of genetic treatments. In some cases, the optimal time may be in the womb. After all, conditions such as Rett, Angelman, and autism all affect how the brain gets built. We need to go as early as possible, Zylka says. Prenatal intervention is going to be the optimal time to treat. When researchers explored reactivating UBE3A in a mouse model at different phases of development, they found that they needed toturn the gene on before birthto rescue most traits of Angelman.

But other work suggeststreating later in life is hardly futile. In 2007, geneticistAdrian Birdof the University of Edinburgh in Scotland createdmice with a genetic switchto turn on or off the expression of MECP2. Turning on gene expression dialed down features of Rett syndrome such as motor and breathing problemseven in adult mice. Another therapy for Angelmanthe one that inspired Berent in 2014also showed success in mature animals, raising hopes for treatments delivered after birth.

Parent pioneer:Allyson Berent helped launch a company to produce a genetic fix for Angelman syndrome, her daughters condition.

Around midnight one Friday in April 2017, Berent got a message from Dindot. It was a picture of mouse neurons glowing fluorescent green, with a note that said something like, You need to see this. What the glow indicated is that his team had activated the paternal copy of UBE3A in mice using antisense oligonucleotides, the same type of molecules Ionis and Beaudet had tested.

Over the course of a few meetings, FAST board members debated what to do. In three years, they say, they had seen little progress on Angelman therapies from Ionis or any other drug company that had entered the race. There was no confidence from us that any pharmaceutical company was going to bring something to the clinic, Evans says.

So the FAST leadership decided to do it themselves: They licensed the patent for the oligonucleotides from Dindots lab at Texas A&M and, in December 2017, launched GeneTx with investments from Angelman families and friends. They were in mostly uncharted spacea room full of Angelman parents planning to go head-to-head against veteran drug makers. Berent became GeneTxs chief operating officer and Evans the chief executive officer, both drawing a salary for their work for the first time.

The science also moved quickly. Over the next year or so, Dindot demonstrated that the companys drug candidate activated UBE3A in cultured human neurons and in the neurons of live crab-eating macaques, whose UBE3A gene resembles the human one. Meanwhile, Evans enlistedJennifer Panagoulias, a drug-industry veteran whose niece has Angelman, to help them cross regulatory hurdles at the FDA and get a clinical trial approved. In August 2019,Ultragenyx, a biopharmaceutical company in Novato, California, paid $20 million for an exclusive option to purchase GeneTx, pending the outcome of that trial, which Ultragenyx is funding. The FDA gave the go-ahead to start the trial in early 2020.

Looking ahead, the team could face legal obstacles along with scientific ones. There may be a patent fight down the road, Beaudet says. Its kind of interesting to watch it all evolve.

If I can do anything, I can take that animal work and translate that to humans.

One concern is that restoring UBE3A wont make a difference for all Angelman children, who can have different underlying mutations. Many with a deleted gene, including Quincy, are often also missing neighboring genes on the same chromosome, resulting in a lack of those proteins as well. Whatever happens, Beaudet credits Berent with pushing the field forward. She definitely has triggered faster movement, he says.

Also, antisense oligonucleotides must be given repeatedly. Like Spinraza, GTX-102 is injected into the cerebrospinal fluid every 4 months. If it reaches the clinic, it may one day be overtaken by one-time therapies that Berent is also pursuing. A traditional gene-replacement therapy for Angelman, also funded by FAST, is being tested in animals at the University of Pennsylvania, according toJames Wilson, who directs the Gene Therapy Program there. A parallel effort at the University of South Florida is inching forward, and the CRISPR-based therapies, which could also be one-time fixes, are several years from human testing.

Though Angelman families dream of cures, any treatment that enables their children to communicate or gives them a measure of independence would be welcomed. If they talk at all, thats a huge thing, Berry-Kravis says. Being able to walk over different surfaces, being able to use a spoon and fork. These are things that would be meaningful.

And the GTX-102 trial has enormous significance for neuroscience, Berry-Kravis says. It will help us a lot with understanding whether we can reverse disorders later in life, and how much. It may also bring us closer to the day when there is an array of standard gene-therapy technologies that scientists can retrofit to any condition. Many expect researchers will uncover more autism-linked conditions that, like Rett and Angelman, are driven by a single gene. Gene therapies might also be able to treat more complex forms of autism. A next step might be uncovering forms of autism linked to just two or three genes and then targeting those.

Quincy, now 6 and in kindergarten, has applied to participate in the first phase of the GeneTx trial. Quincy can walk, though her balance is poor and she falls frequently. Though she is nonverbal, she knows some numbers and letters and communicates using a picture-based system on a tablet. Quincy spent two years learning to crawl and six years mastering waving hello. Like her mother, difficulty does not deter her. Says Berent, She has taught us so much about life and grace.

This article was reprinted with permission fromSpectrum,the home of autism research news and analysis.

*Correction, 19 October, 3:15 p.m.:A previous version of this article incorrectly stated that Zolgensma is administered via injection. It is delivered through an infusion.

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Is gene therapy ready to treat some forms of autism? - Science Magazine

CooperSurgical and NYU Langone Fertility Center Announce Study Data Showing Significant Increase in Ongoing Pregnancy and Live Birth Rates with…

Data from NYU Langone Fertility Center Study Presented atAmerican Society of Reproductive Medicine Annual Meeting

TRUMBULL, Conn. and NEW YORK, Oct. 19, 2020 (GLOBE NEWSWIRE) -- CooperSurgical and NYU Langone Fertility Center (NYULFC), part of The Prelude Network, announced today independent study results demonstrating increased ongoing pregnancy and live birth rates associated with the use of CooperSurgical's PGTai 2.0 technology to screen embryos for in vitro fertilization (IVF).1 This single-center study was conducted by NYULFC; and results were presented today at the American Society of Reproductive Medicine (ASRM) Virtual Scientific Congress.

Preimplantation Genetic Testing for aneuploidy (PGT-A) is performed on embryos produced through IVF; it provides genetic information to help identify embryos that are more likely to result in a successful pregnancy. PGTai 2.0 is an advancement in PGT-A testing that utilizes artificial intelligence to increase objectivity of this screening process.

This research moves us an important step closer to our goal of increased live births, improved pregnancy outcomes and further reduction of multiples in pregnancy through greater confidence in single embryo transfer, said James A. Grifo, M.D., Ph.D., Director, NYU Langone Fertility Center.

An estimated 48.5 million couples approximately 15% of couples -- are affected by infertility worldwide.2 80,000 babies were born with IVF in 2017 in the United States3 and more than one million babies were born in the period 1987 to 2015 in the United States as a result of IVF.4

The study is a demonstration of CooperSurgicals commitment to developing the most advanced technology in the field of genetic testing to advance reproductive medicine and help families, said Tony Gordon, Vice President of Business Development, CooperGenomics. By applying artificial intelligence in the PGTaism2.0 technology, we leverage mathematical algorithms derived from real-world data to achieve objective embryo assessment.

About the Study The retrospective study included data from more than 700 patients in the NYU Langone Fertility Center in New York, N.Y.

The study compared results from three next generation sequencing (NGS) genetic tests: Standard NGS, NGS with first generation artificial intelligence (PGTai 1.0 Technology Platform) and NGS with second generation artificial intelligence (PGTai 2.0 Technology Platform). The ongoing pregnancy and live birth rates significantly increased by a relative 13 percent in the PGTai 2.0 group as compared to subjective and prior methodologies.

Study results also suggest that the increase in ongoing pregnancy and live births may be linked to improvements in several preceding IVF outcomes (implantation rates, clinical pregnancy rates and pregnancy loss).

About NYU Langone Fertility CenterNYU Langone Fertility Centerprovides world class science and exceptional clinical care to patients seeking fertility treatment. For over 25 years, the Fertility Center has been on a mission to help educate women and men about their reproductive health, and to deliver data-driven guidance at each step in the fertility care process. NYU Langone Fertility Center is proud to serve all families with compassionate, individualized, and cost-effective treatment options.

The Fertility Center has helped thousands of patients realize their dreams of having a family, and its dedicated physicians have over 125 years of collective experience performing IVF. Each physician is certified in Reproductive Endocrinology and Infertility (REI) with the American Board of Obstetrics and Gynecology, and many of its physicians also hold Professor or Assistant Professor positions within the Department of Obstetrics and Gynecology at NYU Langone Health. While they are physicians first and foremost, the Fertility Centers physicians are also active participants in clinical research to advance the safety, success, and affordability of fertility care.

About CooperSurgical CooperSurgical is a leader in delivering innovative assisted reproductive technology and genomic solutions that enhance the work of ART professionals to the benefit of families. Its experience working with embryologists and IVF professionals across the globe, and offering a portfolio of products for the entire ART process, means that it can help meet the exacting needs of ART clinics.

CooperSurgical is a wholly-owned subsidiary of CooperCompanies (NYSE: COO). CooperSurgical headquartered in Trumbull, CT, produces and markets a wide array of products and services for use by womens health care clinicians. More information can be found at

About CooperCompaniesCooperCompanies ("Cooper") is a global medical device company publicly traded on the NYSE (NYSE:COO). Cooper operates through two business units, CooperVision and CooperSurgical. CooperVision brings a refreshing perspective on vision care with a commitment to developing a wide range of high-quality products for contact lens wearers and providing focused practitioner support. CooperSurgical is committed to advancing the health of women, babies and families with its diversified portfolio of products and services focusing on medical devices and fertility & genomics. Headquartered in San Ramon, CA, Cooper has a workforce of more than 12,000 with products sold in over 100 countries. For more information, please visit


CooperSurgicalCaren BegunGreen Room

NYU Langone Fertility CenterMia HumphreysKrupp

________________________________1 Buldo-Licciardi J, Large M, McCulloh D, McCaffrey C, Grifo J. Second generation artificial intelligence technology for preimplantation genetic testing (PRT) improves pregnancy outcomes in single thawed euploid embryo transfer cycles (STEET). Presented at American Society for Reproductive Medicine on October 19, 2020. Available at: Accessed October 13, 2020.2 Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015;13:37. Published 2015 Apr 26. doi:10.1186/s12958-015-0032-1. Accessed October 13, 2020. 3 Centers for Disease Control and Prevention. ART Success Rates. Available at: Accessed October 13, 2020.4 Centers for Disease Control and Prevention, American Society for Reproductive Medicine, Society for Assisted Reproductive Technology. 2015 Assisted Reproductive Technology National Summary Report. Available at: Accessed October 13, 2020.

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CooperSurgical and NYU Langone Fertility Center Announce Study Data Showing Significant Increase in Ongoing Pregnancy and Live Birth Rates with...

Cardiovascular Genetic Testing Market to Witness High Growth in Near Future and Competitive Analysis – PRnews Leader

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