Page 11234..1020..»

Archive for the ‘Genetic Testing’ Category

IVF patients suing over inaccurate genetic tests find out some of their embryos were not discarded – ABC News

Some people involved in a class action against two fertility services over the use of a non-invasive test which may have incorrectly classifiedembryos as abnormalhave been told their embryos are still being stored.

The lawyer representing about 200 affected parties in Victoria's Supreme Court saidthe mistake hadresulted in some women choosing to beimplanted with another person's embryo, while others have lost precious months of fertility.

The class action launched lastDecember alleges Melbourne-based Monash IVF and Adelaide-based Repromed breachedtheir duty of care by failing to tell patients about the pitfalls of a type of testing that does not require a biopsy.

There are two ways to conduct such testing: the first method is through a biopsy, which involves taking a tissue sample from an embryo, a method that is considered invasive.

The second method is called non-invasive pre-implantation genetic testing and involves collecting DNA from the culture that the embryo has been growing in while in the laboratory.

The inaccuracy of the test used by the two services between May 2019 and October 2020 was discovered last October.

Patients were informed of the issue after manyhad already made the choice to donatethe embryos to science or destroy them.

Lawyer Michel Margalit said some clients had discovered last week that some oftheir embryos were still in storage.


Those that had been donated could still be retrieved, but the others were lost forever.

"They acted on the advice that their embryos were abnormal or had been destroyed," Ms Margalit said.

"Some people obtained donor embryos and are now pregnant with children that aren't necessarily genetically related to them, or that had a whole host of other treatments, so it's a very painful time for our clients."

She said they were not told about the pitfalls of the experimental testing regime.

"In this case, there was an alternative a reliable test, a biopsy method and women were steered away from that method, to this non-invasive method and they just didn't know the mess they were walking into," she said.

Monash IVF and Repromed have now stopped using non-invasive pre-implantation genetic testing.

Repromed medical directorProfessor Kelton Tremellen said the test turned out to be not as accurate as the company had hoped.

He said some of the embryos that could now be used might still be abnormal.

Supplied: Repromed

"What we're trying to do is say, look, unfortunately, we've now recognised that the test is not as accurate as it was originally portrayed to us and that we want to give these individuals the opportunity to make a decision nowwhat they want to do with those embryos," he told ABC Radio Adelaide.

"Some people will say 'I simply don't want to use them, we've moved on'.

"Others will say, 'look, we'll accept the risk and transfer them and effectively consider them to be embryos that haven't been tested at all'."

He said he and other scientists had "lost sleep" worrying about the effect on patients.

"Rather than hide this stuff from patients, our staff have contacted them saying, 'look, those embryos are still in storage, we've now found out this test is not as accurate as we'd hoped, what would you like to do with them?'" he said.

"Rather than sweeping it under the carpet, we're trying to be open and socially responsible by having full disclosure."

Continue reading here:
IVF patients suing over inaccurate genetic tests find out some of their embryos were not discarded - ABC News

Is small-cell lung cancer hereditary? What to know – Medical News Today

Small-cell lung cancer (SCLC) occurs almost exclusively in smokers and appears to be most common in heavy smokers. Historically, SCLC has been rare in never smokers. However, certain inherited mutations may increase the likelihood of developing SCLC.

It is very important to note that having inherited a genetic mutation does not mean a person will develop SCLC.

Although there are several different kinds of lung cancer, around 95% of lung cancers are either SCLCs or non-small cell lung cancers (NSCLCs).

What distinguishes SCLC from NSCLC is its rapid growth and the early development of widespread metastases. Although SCLC is initially very responsive to chemotherapy and radiation, the majority of patients will relapse within a few months to 1 year from initial therapy.

This article will look at whether SCLC is hereditary and whether a person can undergo genetic testing. It will also discuss the causes of and risk factors for SCLC.

SCLC occurs when certain cells in the lungs grow quickly and uncontrollably, forming a tumor.

Cancers begin to develop when genetic mutations affect the genes that control the growth and division of cells or repair DNA that is damaged.

The majority of lung cancer cases are due to genetic changes known as somatic mutations, which are not hereditary. A person acquires them during their lifetime.

The National Organization for Rare Disorders notes that the two main somatic mutations related to SCLC affect the genes TP53 and RB1.

The TP53 gene provides instructions for creating a protein called p53, and the RB1 gene provides instructions for making pRB. Both proteins are tumor suppressors, which means they regulate cell growth and division.

However, in 2021, a group of researchers published a scientific paper that looked at 87 people with SCLC.

After analyzing 607 genes from each individual, the researchers found genetic mutations that increased the likelihood of developing SCLC in 43.7% of the study participants. Around 10% of these are heritable genetic mutations.

The authors of the paper conclude that certain heritable genetic mutations could make some people more likely to develop SCLC.

It is of note that if a person inherits a genetic mutation, this can increase their risk of developing cancer. It does not mean, however, that they will definitely develop cancer.

In addition, the American Cancer Society states that, although genes can play a role in the development of lung cancer, few lung cancers occur due to inherited mutations alone.

Genetic testing is when healthcare professionals look for potential inherited genetic mutations that may increase a persons risk of developing certain kinds of cancer.

For some cancer types, a healthcare professional can also suggest genetic testing as a part of the diagnostic and staging process. This can help determine a persons outlook and whether particular treatment options might be helpful.

Currently, however, doctors do not use genetic testing to diagnose SCLC. The Memorial Sloan Kettering Cancer Center notes that healthcare professionals and researchers know less about the genetic mutations that can lead to SCLC than they do about other genetic changes.

Smoking is the primary cause of SCLC. Tobacco smoke contains cancer-causing chemicals, or carcinogens, which damage the DNA in cells.

According to a 2020 review, 85% of lung cancer cases are the result of smoking.

Other risk factors include exposure to:

There are several ways in which a person may be able to lower their risk of developing SCLC.

Smoking tobacco is such a common cause of SCLC that the most effective preventive strategy is to not begin smoking.

However, for those who do smoke, quitting can lower the likelihood of developing SCLC. If a person quits before cancer develops, the lung tissue can begin to gradually repair itself.

A 2018 study looked at a group of people who have smoked 21.3 packs of cigarettes per year on average. The researchers compared the lung cancer rates of those who currently smoke and those who had quit within the previous 5 years.

They found that the individuals in the latter group were 39.1% less likely to develop lung cancer.

Learn about 11 tips for giving up smoking here.

Other ways of lowering the risk of SCLC include reducing exposure to secondhand smoke, asbestos, and radon. However, this may sometimes be outside of a persons control.

At the moment, doctors do not use genetic testing to diagnose SCLC.

Instead, a person should contact a healthcare professional if they experience any of the following symptoms:

If a healthcare professional suspects the cause of the above symptoms is SCLC, they may perform the following diagnostic tests:

Cancer occurs due to genetic mutations that lead to an uncontrollable growth and division of cells.

A person can acquire these genetic mutations throughout their life. In some cases, certain hereditary genes can increase the risk of developing SCLC.

However, inherited genetic mutations are often not enough to cause cancer by themselves. Having inherited a genetic mutation does not mean a person will develop cancer. It means that it can increase the likelihood of that happening.

Smoking is the primary cause of SCLC. To help lower the risk of developing this type of cancer, a person should avoid smoking.

Read the original:
Is small-cell lung cancer hereditary? What to know - Medical News Today

In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More – GenomeWeb

NEW YORK Foundation Medicine and Flatiron Health announced this week that Foundations comprehensive genomic profiling tests will be available to order through Flatiron's OncoEMR platform. The integration will allow clinicians to electronically order, track, and receive Foundations test through OncoEMR, the companies said. Both Flatiron and Foundation are planning further integrations with the others comprehensive genomic profiling tests and electronic medical record systems, respectively.

Myriad Genetics this week said it has completed the sale of its Myriad RBM unit which specializes in providing laboratory research services to pharmaceutical companies to IQVIA subsidiary Q2 Solutions. When Myriad announced its intent to sell this business unit in May, it did not disclose the deal's financial details.

GenetronHealth said this week that it has entered a new partnership with the World Economic Forum under its Health and Healthcare Platform, where it is contributing its research insights, technologies, and industry experience. The platform's overall goal is to ensure worldwide equal access to the highest standards of health and healthcare.Genetroniscurrentlyparticipating in a sub-project,dubbedMoving Genomics to the Clinic, which seeks to promote the use of genetic testing in routine clinical practices by proving its utility and efficacy.

AccessHope, a City of Hope subsidiary, said this week that it has partnered with the Dana-Farber Cancer Institute to bring the latest cancer care expertise to patients and oncologists in the community. By partnering withAccessHope, Dana-Farber's experts will support oncologistswiththe latest advances in oncology,includingpersonalized treatments, clinical trials, promising investigational medications, and molecular testing. Patients in Massachusetts, Maine, New Hampshire, Vermont, Connecticut, Rhode Island, New York,and New Jersey, as well asthosein other parts of the country,can access these services through their employee benefits programs. City of Hope and Northwestern University's Robert H. Lurie Comprehensive Cancer Center are also foundational members ofAccessHope.

Molecular breath analysis startup Deep Breath Intelligencesaid this week that it has entered a collaboration with Lwenstein Medical, a sleep and respiratory medicine firm based inRheinland-Pfalz, Germany.Rotkreuz, Switzerland-based DBI said that it is applying artificial intelligence to identify breath biomarkers related to obstructive sleep apnea syndrome. DBIsaid ithas initiated a study on OSASin collaboration with Lwenstein Medical,using participantsbreath samples and applying DBIs patterned analytical algorithms to provide results.

Enable Biosciences said this week it is partnering with the California Department of Public Health to survey state residents for the presence of antibodies against SARS-CoV-2. As part of the program, more than 200,000 households in California will be invited to submit dried blood samples collected at home using kits developed by Enable Bio andtheCDPH. The samples will then be tested by Enable Bio for the presence of antibodies against SARS-CoV-2 to distinguish antibody response fromviralinfection versusresponse fromvaccination. Test results will provide information about the spread of COVID-19 in California and the uptake of vaccines for the disease, South San Francisco, California-based Enable Bio said. The project is a collaboration betweenthe company,theCDPH, Stanford University, and Gauss Surgical. The first survey period concluded June 15 with the second and third enrollment periods slated tobeginat the start of 2022.

NeoGensaid this week that it has extended itsglobalanimal genomicspartnership withGencove. Thepartnership allowsNeoGento offerGencove'sSkimSeeklow-pass sequencing technology to customers in the agricultural sector, including those in the bovine, canine,poultry, and swine industries. UsingGencove'ssequencingimputationplatform,NeoGensaid it can deliver increased genomics data with improved accuracy and flexibility.

Bioceptsaid this week ithas been added to the Russell Microcap Index. Michael Nall, Biocept's president and CEO,called the nodexceptionally exciting, as a driver ofawarenessfor the cancer liquid biopsy firm within thelargerglobal investment community.

Immunoviasaid this week that its American subsidiary hasreceived a CLIA Certificate of Registration,which isan important step in the accreditation of its laboratory in Marlborough, Massachusetts, and a prerequisite to receiving clinical laboratory licensure fromtheMassachusetts Department of Public Health. Clinical laboratory licensure is required beforeImmunoviacan begin testing patients with itsImmrayPanCan-d test, the firm said.According to the Centers for Medicare and Medicaid Services, a Certificate of Registration allows a laboratory toconduct moderate and/or high complexity testing until it is inspected to determine its compliance with the CLIA regulations.

In Brief This Week is a selection of news items that may be of interest to our readers but had not previously appeared onGenomeWeb.

Continued here:
In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More - GenomeWeb

Insights on the Genomic Cancer Panel and Profiling Global Market to 2025 – GlobeNewswire

Dublin, July 05, 2021 (GLOBE NEWSWIRE) -- The "Genomic Cancer Panel and Profiling Markets by Cancer, by Application, by Tissue and by Gene Type with Screening potential Market Size, Forecasting/Analysis, and Executive and Consultant Guides 2021-2025" report has been added to's offering.

Cancer Gene Panels and Genomic Profiling are quickly changing the diagnosis and treatment of cancers. The market is moving out of a specialized niche and going mainstream as Oncologists begin routinely using information on the hundreds of genes related to cancer. The market is exploding as physicians use all the information they can get in the battle against cancer. While Pharmaceutical Companies see the potential to make nearly any therapy viable. The report has data on how test volumes have grown for the biggest players. Find out how this new way of understanding cancer will change cancer diagnostics forever.

Comprehensive panels, genomic profiling, high risk breast cancer panels. Learn all about how players are jockeying for position in a market that is being created from scratch. And some players are pulling way out in front and expanding globally. It is a dynamic market situation with enormous opportunity where the right diagnostic with the right support can command premium pricing. And the science is developing at the same time creating new opportunities with regularity. And the cost of sequencing continues to fall.

This report provides data that analysts and planners can use. Hundreds of pages of information including a complete list of Current 2021 United States Medicare Fee Payment Schedules to help understand test pricing in detail. Forecast demand for new testing regimes or technologies. Make research investment decisions. Existing laboratories and hospitals can use the information directly to forecast and plan for clinical facilities growth.

Key Topics Covered:

1 Market Guides

2 Introduction and Market Definition

3 Market Overview3.1 Players in a Dynamic Market3.1.1 Academic Research Lab3.1.2 Diagnostic Test Developer3.1.3 Instrumentation Supplier3.1.4 Distributor and Reagent Supplier3.1.5 Independent Testing Lab3.1.6 Public National/regional lab3.1.7 Hospital lab3.1.8 Physician Office Labs3.1.9 Audit Body3.1.10 Certification Body3.2 Oncogenomics3.2.1 Carcinogenesis3.2.2 Chromosomes, Genes and Epigenetics3.2.2.1 Chromosomes3.2.2.2 Genes3.2.2.3 Epigenetics3.2.3 Cancer Genes3.2.4 Germline vs Somatic3.2.5 Gene Panels, Single Gene Assays and Multiplexing3.2.6 Genomic Profiling3.2.7 The Comprehensive Assay3.2.8 Changing Clinical Role3.2.9 The Cancer Screening Market Opportunity3.3 Cancer Management vs. Diagnosis3.3.1 The Role of Risk Assessment3.3.2 Diagnosis3.3.3 Managing3.3.4 Monitoring3.4 Phases of Adoption - Looking into The Future3.5 Structure of Industry Plays a Part3.5.1 Hospital Testing Share3.5.2 Economies of Scale3.5.2.1 Hospital vs. Central Lab3.5.3 Physician Office Lab's3.5.4 Physician's and POCT3.6 Currently Available Large Comprehensive Assays3.7 Pricing Profiling vs. Whole Exome (or Genome) Sequencing3.7.1 Medicare Profile Pricing3.7.2 Whole Exome Sequencing

4 Market Trends4.1 Factors Driving Growth4.1.1 Level of Care4.1.2 Companion Dx4.1.3 Immuno-oncology4.1.4 Liability4.1.5 Aging Population4.2 Factors Limiting Growth4.2.1 State of knowledge4.2.2 Genetic Blizzard4.2.3 Protocol Resistance4.2.4 Regulation and coverage4.3 Instrumentation and Automation4.3.1 Instruments Key to Market Share4.3.2 Bioinformatics Plays a Role4.4 Diagnostic Technology Development4.4.1 Next Generation Sequencing Fuels a Revolution4.4.2 Single Cell Genomics Changes the Picture4.4.3 Pharmacogenomics Blurs Diagnosis and Treatment4.4.4 CGES Testing, A Brave New World4.4.5 Biochips/Giant magneto resistance based assay

5 Cancer Panels & Profiles Recent Developments5.1 Recent Developments - Importance and How to Use This Section5.1.1 Importance of These Developments5.1.2 How to Use This Section5.2 Dante Labs Acquires Cambridge Cancer Genomics5.3 Celemics, Strand Partner on Integrated Platform for NGS Analysis5.4 Myriad Genetics Recalibrates Breast Cancer Panel for All Ancestries5.5 Burning Rock Revenues Rise5.6 Caris Life Sciences to Expand Liquid Biopsy Testing5.7 OncoDiag Announces Multiplex Test for Bladder Cancer Recurrence5.8 Intermountain and Myriad Combine Test Offering5.9 Illumina, Geneseeq to Offer Cancer Testing Kits in China5.10 Exact Sciences to Offer End-to-End Cancer Testing5.11 Guardant Health Turns to Tumor Tissue Sequencing5.12 Tempus Inks Oncology Testing Collaboration With Bayer5.13 Biocartis Collaborating With GeneproDx, Endpoint Health on Tests for Idylla Platform5.14 Wales to Routinely Screen Cancer Patients With Yourgene Elucigene Test5.15 Metastatic Cancer Markers Identified in Clinical WGS Study5.16 Stitch Bio Bets on CRISPR Tech5.17 Bayer, LifeLabs Launch Free NTRK Genetic Testing Program5.18 Foundation Medicine Liquid Biopsy Gets FDA Approval for Multiple Companion Dx5.19 Progress, Challenges in Liquid Biopsy Reimbursement5.20 Israeli Startup Curesponse Raises $6M5.21 Invitae, ArcherDX Merge to Advance Precision Oncology Offerings5.22 MD Anderson Precision Oncology Decision Support to Use Philips' Informatics Solution5.23 NeoGenomics, Lilly Oncology Partner for Thyroid Cancer Testing Program5.24 Germline Results Guides Precision Therapy in Advanced Cancer5.25 FDA Clears Cancer Genomic Profiling Kit From Personal Genome Diagnostics5.26 ArcherDX, Premier Collaborate to Evaluate Genomic Sequencing Assay for Cancers5.27 Labs Reporting Cancer Risk Mutations from Tumor Testing5.28 Users Begin Integrating Genomics Data for Clinical Decision Support5.29 Fujitsu Improves Efficiency in Cancer Genomic Medicine5.30 Thermo Fisher's automated sequencer to offer same-day, pan-cancer test results5.31 Universal Genetic Testing for All Breast Cancer Patients5.32 Exact Sciences buys Genomic Health5.33 Multi-Gene Liquid Biopsy Breast Cancer Panel5.34 Thrive to Develop Earlier Detection of Multiple Cancer Types5.35 New Gene Panel Identifies High Risk Prostate Cancer5.36 Guardant Health Liquid Biopsy Test to be Covered by EviCore5.37 Biocept Partnership Offering for Liquid Biopsy Adds Several Key Services5.38 Natera Commercializes Tumor Whole Exome Sequencing from Plasma5.39 Inivata Completes 39.8M Series B Funding Round5.40 Bio-Rad Clinical ddPCR Test, Diagnostic System Get FDA Clearance5.41 CellMax, Medigen Biotech Partner in Colorectal Cancer Clinical Trials5.42 Biodesix Acquires Integrated Diagnostics5.43 Predicine, Kintor Pharmaceuticals Partner on Clinical Trials, CDx

6 Profiles of Key Players6.1 10x Genomics, Inc6.2 Abbott Diagnostics6.3 AccuraGen Inc6.4 Adaptive Biotechnologies6.5 Aethlon Medical6.6 Agena Bioscience, Inc6.7 Agilent/Dako6.8 Anchor Dx6.9 ANGLE plc6.10 ApoCell, Inc.6.11 ArcherDx, Inc6.12 ARUP Laboratories6.13 Asuragen6.14 AVIVA Biosciences6.15 Baylor Miraca Genetics Laboratories6.16 Beckman Coulter Diagnostics6.17 Becton, Dickinson and Company6.18 BGI Genomics Co. Ltd6.19 Bioarray Genetics6.20 Biocartis6.21 Biocept, Inc6.22 Biodesix Inc6.23 BioFluidica6.24 BioGenex6.25 BioIVT6.26 Biolidics Ltd6.27 bioMerieux Diagnostics6.28 Bioneer Corporation6.29 Bio-Rad Laboratories, Inc6.30 Bio-Reference Laboratories6.31 Bio-Techne6.32 Bioview6.33 Bolidics6.34 Boreal Genomics6.35 Bristol-Myers Squibb6.36 Burning Rock6.37 Cancer Genetics6.38 Caris Molecular Diagnostics6.39 Castle Biosciences, Inc.6.40 Celemics6.41 CellMax Life6.42 Cepheid (Danaher)6.43 Charles River Laboratories6.44 Chronix Biomedical6.45 Circulogene6.46 Clinical Genomics6.47 Cynvenio6.48 Cytolumina Technologies Corp6.49 CytoTrack6.50 Datar Cancer Genetics Limited6.51 Diagnologix LLC6.52 Diasorin S.p.A6.53 Enzo Life Sciences, Inc6.54 Epic Sciences6.55 Epigenomics AG6.56 Eurofins Scientific6.57 Exact Sciences6.58 Exosome Diagnostics6.59 Exosome Sciences6.60 Fabric Genomics6.61 Fluidigm Corp6.62 Fluxion Biosciences6.63 Foundation Medicine6.64 Freenome6.65 FUJIFILM Wako Diagnostics6.66 GeneFirst Ltd.6.67 Genetron Holdings6.68 GenomOncology6.69 GILUPI Nanomedizin6.70 Grail, Inc.6.71 Guardant Health6.72 HalioDx6.73 HansaBiomed6.74 HeiScreen6.75 Helomics6.76 Horizon Discovery6.77 HTG Molecular Diagnostics6.78 iCellate6.79 Illumina6.80 Incell Dx6.81 Inivata6.82 Integrated Diagnostics6.83 Invitae Corporation6.84 Invivogen6.85 Invivoscribe6.86 Janssen Diagnostics6.87 MDNA Life SCIENCES, Inc6.88 MDx Health6.89 Menarini Silicon Biosystems6.90 Millipore Sigma6.91 Miltenyi Biotec6.92 MIODx6.93 miR Scientific6.94 Molecular MD6.95 MyCartis6.96 Myriad Genetics/Myriad RBM6.97 NantHealth, Inc.6.98 Natera6.99 NeoGenomics6.100 New Oncology6.101 NGeneBio6.102 Novogene Bioinformatics Technology Co., Ltd.6.103 Oncocyte6.104 OncoDNA6.105 Ortho Clinical Diagnostics6.106 Oxford Nanopore Technologies6.107 Panagene6.108 Perkin Elmer6.109 Personal Genome Diagnostics6.110 Personalis6.111 Precipio6.112 PrecisionMed6.113 Promega6.114 Qiagen Gmbh6.115 Rarecells SAS6.116 RareCyte6.117 Roche Molecular Diagnostics6.118 Screencell6.119 Sense Biodetection6.120 Serametrix6.121 Siemens Healthineers6.122 Silicon Biosystems6.123 simfo GmbH6.124 Singlera Genomics Inc6.125 Singulomics6.126 SkylineDx6.127 Stratos Genomics6.128 Sysmex Inostics6.129 Tempus Labs, Inc6.130 Thermo Fisher Scientific Inc6.131 Thrive Earlier Detection6.132 Todos Medical6.133 Trovagene6.134 Variantyx6.135 Volition6.136 Vortex Biosciences

7 The Global Market for Cancer Gene Panels and Profiles7.1 Global Market Overview by Country7.2 Global Market by Cancer Type - Overview7.3 Global Market by Application - Overview7.4 Global Market by Tissue - Overview7.5 Global Market Germline & Somatic - Overview

8 Global Cancer Gene Panels & Profiles Markets - By Type of Cancer8.1 Comprehensive Panels & Profiles8.1.1 Table Comprehensive Testing - by Country8.1.2 Chart - Comprehensive Testing Growth8.2 Breast Cancer Gene Testing8.2.1 Table Breast Cancer Gene Testing - by Country8.2.2 Chart - Breast Cancer Testing Growth8.3 Colorectal Cancer Gene Testing8.3.1 Table Colorectal Cancer Gene Testing - by Country8.3.2 Chart - Colorectal Cancer Gene Testing Growth8.4 Gynecological Cancer Gene Testing8.4.1 Table Gynecological Cancer Gene Testing - by Country8.4.2 Chart - Gynecological Cancer Gene Testing Growth8.5 Blood Cancer Gene Testing8.5.1 Table Blood Cancer Gene Testing - by Country8.5.2 Chart - Blood Cancer Gene Testing Growth8.6 Prostate Cancer Gene Testing8.6.1 Table Prostate Cancer Gene Testing - by Country8.6.2 Chart - Prostate Cancer Testing Growth8.7 Lung Cancer Gene Testing8.7.1 Table Lung Cancer Gene Testing - by Country8.7.2 Chart - Lung Cancer Gene Testing Growth8.8 Other Cancer Gene Testing8.8.1 Table Other Cancer Gene Testing - by Country8.8.2 Chart - Other Cancer Gene Testing Growth

9 Global Cancer Gene Panels & Profiles Markets - By Type of Application9.1 Clinical Testing9.1.1 Table Clinical Testing - by Country9.1.2 Chart - Clinical Testing Growth9.2 Pharmaceutical Testing9.2.1 Table Pharmaceutical Testing - by Country9.2.2 Chart - Pharmaceutical Testing Growth9.3 Research Testing9.3.1 Table Research Testing - by Country9.3.2 Chart - Research Testing Growth

10 Global Cancer Gene Panels & Profiles Markets - By Tissue Type10.1 Solid Tissue10.1.1 Table Solid Tissue Testing - by Country10.1.2 Chart - Solid Tissue Testing Growth10.2 Liquid Tissue Testing10.2.1 Table Liquid Tissue Testing - by Country10.2.2 Chart - Liquid Tissue Testing Growth

11 Global Cancer Gene Testing Markets - Germline and Somatic11.1 Global Market Somatic11.1.1 Table Somatic - by Country11.1.2 Chart - Somatic Testing Growth11.2 Global Market Germline11.2.1 Table Germline - by Country11.2.2 Chart - Germline Testing Growth

12 Potential Market Opportunity Sizes12.1 Potential Cancer Screening by Country: Lung, Breast & Colorectal12.2 Potential Cancer Screening by Country: Prostate, Other Cancer & All Cancer12.3 Potential Market Size - Cancer Diagnosis12.4 Potential Market Size - Therapy Selection

13 Appendices

For more information about this report visit

Read more from the original source:
Insights on the Genomic Cancer Panel and Profiling Global Market to 2025 - GlobeNewswire

The Global Animal Genetics Market is expected to grow by $ 1.84 bn during 2021-2025, progressing at a CAGR of almost 7% during the forecast period -…

Global Animal Genetics Market 2021-2025 The analyst has been monitoring the animal genetics market and it is poised to grow by $ 1. 84 bn during 2021-2025, progressing at a CAGR of almost 7% during the forecast period.

New York, July 05, 2021 (GLOBE NEWSWIRE) -- announces the release of the report "Global Animal Genetics Market 2021-2025" - Our report on animal genetics market provides a holistic analysis, market size and forecast, trends, growth drivers, and challenges, as well as vendor analysis covering around 25 vendors.The report offers an up-to-date analysis regarding the current global market scenario, latest trends and drivers, and the overall market environment. The market is driven by the growing consumption of animal-derived food products and growing demand for genetic testing services to reduce livestock diseases. In addition, growing consumption of animal-derived food products is anticipated to boost the growth of the market as well.The animal genetics market analysis includes solution segment and geographic landscape.

The animal genetics market is segmented as below:By Geography North America Europe Asia ROW

By Solution Live animal Genetic testing services Genetic materials

This study identifies the growing focus on research and development in animal genomics as one of the prime reasons driving the animal genetics market growth during the next few years.

The analyst presents a detailed picture of the market by the way of study, synthesis, and summation of data from multiple sources by an analysis of key parameters. Our report on animal genetics market covers the following areas: Animal genetics market sizing Animal genetics market forecast Animal genetics market industry analysis

This robust vendor analysis is designed to help clients improve their market position, and in line with this, this report provides a detailed analysis of several leading animal genetics market vendors that include Animal Genetics Inc., AquaGen AS, Aviagen Inc., Cooperatie Koninklijke CRV u.a., Genetic Veterinary Sciences Inc, Genus Plc, Hendrix Genetics BV, Neogen Corp., Topigs Norsvin Holding B.V., and Zoetis Inc. Also, the animal genetics market analysis report includes information on upcoming trends and challenges that will influence market growth. This is to help companies strategize and leverage all forthcoming growth opportunities.The study was conducted using an objective combination of primary and secondary information including inputs from key participants in the industry. The report contains a comprehensive market and vendor landscape in addition to an analysis of the key vendors.

The analyst presents a detailed picture of the market by the way of study, synthesis, and summation of data from multiple sources by an analysis of key parameters such as profit, pricing, competition, and promotions. It presents various market facets by identifying the key industry influencers. The data presented is comprehensive, reliable, and a result of extensive research - both primary and secondary. Technavios market research reports provide a complete competitive landscape and an in-depth vendor selection methodology and analysis using qualitative and quantitative research to forecast the accurate market growth.Read the full report:

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.


Story continues

Continued here:
The Global Animal Genetics Market is expected to grow by $ 1.84 bn during 2021-2025, progressing at a CAGR of almost 7% during the forecast period -...

Bionano Genomics Chief Medical Officer Dr. Alka Chaubey and Cancer Genomics Consortium President Dr. Yassmine Akkari to Present on Optical Genome…

SAN DIEGO, July 02, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that Chief Medical Officer Dr. Alka Chaubey and current President of the Cancer Genomics Consortium Dr. Yassmine Akkari will present at the 6th Annual International Conference of the Board of Genetic Counseling India to be held virtually from July 2nd-4th 2021. Dr. Chaubey has been recognized to present as an invited speaker and will discuss how optical genome mapping (OGM) is enabling a revolution in cytogenetics during a session titled Genetic Counseling in the Omics Era on Saturday July 3rd at 9:25 am IST. Dr. Akkari will present her results using OGM for the genome analysis of Acute Myelogenous Leukemia (AML), and discuss how genetic counselors can introduce OGM to patients on July 3rd at 4:10 pm IST. Bionano Genomics is a Diamond Sponsor of the conference.

This conference aims to promote education among genetic counselors, specialists, doctors, health care providers and students, about current topics in genetics, genomics and genetic counseling. The Annual International Conference of the Board of Genetic Counseling India has over 2,000 delegates from across the globe and can be accessed 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 research use only 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. Bionano provides 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, visit or

Story continues

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

Investor Relations and Media Contact:Amy ConradJuniper Point+1 (858)

See the original post:
Bionano Genomics Chief Medical Officer Dr. Alka Chaubey and Cancer Genomics Consortium President Dr. Yassmine Akkari to Present on Optical Genome...

Emergence of new strains of SARS-COV-2, paves the way for Advanced Genetic Testing: Neeraj Gupta, Genes2me –

Shahid Akhter, editor, ETHealthworld, spoke to Neeraj Gupta, Founder and CEO, Genes2me, to know more about the increased need for molecular diagnostics during the Cocvid-19 pandemic.

How has the molecular diagnostics market evolved in the last decade?The importance of Molecular Diagnostics have received significant recognition in last decade and with the emergence of Covid-19 pandemic in last 1 year, RTPCR tests have become common talking term in every house along with eruption in the Healthcare requirements. In order to cater huge requirements of RTPCR testing for Covid-19, numerous laboratories have adopted RTPCR and automated RNA Extraction platforms. Also, multiple Companies expanded their portfolio and ventured into IVD kits manufacturing as the demand increased for Made In India products.

Why there is a need for Advanced Molecular Diagnostics and Genetic testing segment?There has been increased need for Advanced Molecular Diagnostics and Genetic Tests due to increase in occurrence of Rare Genetic Disorders and new Infectious Diseases (like SARS-COV-2, Mucormycosis, etc.). Also as new strains of SARS-COV-2 are frequently being reported, importance of Advanced Genetic Testing gains significance. Recently, Genes2Me have also developed Unique Mutation Classifier assay which can rapidly differentiate 40 variants between 16 SARS-CoV-2 strains allowing quick genetic screening of large sections of population.What has been the role of technology in enhancing India's testing condition during this pandemic?With the emergence of Covid-19, the need of Molecular Diagnostics have been recognised and grown in last 1 year with spread of network of RTPCR and Automated RNA Extraction Instruments across India. It has really helped in ramping the testing for Diagnosing positive cases on time. Genes2Me is also aggressively working to leverage this massive installed base of Genetic Testing platforms. Based on our expertise in Genomics and access to latest Technologies, we have been able to develop several assays for Infectious diseases, Oncology and Reproductive Health in India. Most of these test panels have been Import dependent from other countries. Similarly, Genes2Me team is aggressively working to develop diverse range of Research and Diagnostics Solutions for Nucleic Acid testing along with Next Generation Sequencing reagents for Genome sequencing.

Genes2Me is committed to continuously deliver Innovative and scientific solutions such as much needed Unique Mutation Classifier assay for SARS-COV-2 strain and easy self-use Antigen test kits solutions which is under R&D phase, besides many other products.


Read more from the original source:
Emergence of new strains of SARS-COV-2, paves the way for Advanced Genetic Testing: Neeraj Gupta, Genes2me -

Impacting Communities Around Her as a Patient and Nurse –

I am nominating Lily Apfel, LVN, for the Extraordinary Healer Award. I came to know Lily in 2015 when she was diagnosed with breast cancer at the age of 35. She was a LVN working at our gastroenterology clinic. She was under my care and received comprehensive treatment including surgery, chemotherapy and radiation. During the treatment, she showed great strength and handled the tough ordeals gracefully. Our staff loved her.

Half a year later, at one of her follow-up appointments, I recruited her, and she was extremely excited and has joined us since. For the ensuing years, she has taken important roles. I am a solo provider for this community, so our staff often take multiple roles to meet the complexity of oncology care. She is our liaison and go-to person on oncology-specialty oral drugs. She is our head person on genetic testing. She handles our tumor board logistics.

There are also other attributes that make her unique. She is a great patient advocate, especially for uninsured Hispanics in our community. Lily is fluent in Spanish, and she is almost the only person these patients depend on to get their oncology care coordinated and drugs covered. She would go beyond for those patients. Lily is also very active in her own community, which is different from where she is working. It is not uncommon to hear that she does house hospice visits.

Please consider her for this Extraordinary Healer Award. Our clinic and community are very fortunate to have her.

Editors Note: This is an essay submitted by Dr. Hengbing Wang for the 2021 Extraordinary Healer Award. Click here to read more about CUREs Extraordinary Healer Award for Oncology Nursing event on April 30, 2021.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

More here:
Impacting Communities Around Her as a Patient and Nurse -

90 Percent of People With ALS Have This in Common, Experts Say – Best Life

Amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig's disease, is a rare neurological disorder that that approximately 20,000 U.S. residents are living with during any given year. And while your chances of receiving an ALS diagnosis may be relatively low, the prognosis for people with ALS is dire. According to the Centers for Disease Control and Prevention (CDC), patients with ALS typically live just two to five years after first displaying symptoms, which typically include muscle weakness or stiffness, spasms, fatigue, and difficulty swallowing, among others.

Researchers know that these symptoms arise due to the disease attacking motor neurons in the brain and spinal cord which are needed for muscle movement, but the root cause of ALS is still unfortunately unknown. Experts say that both genetic and environmental factors likely play a role. In fact, there's one genetic factor that may give you an insight into your risk level. Read on to discover the one thing 90 percent of people with ALS have have in common.

RELATED:If You Notice This in the Morning, It May Be an Early Sign of Parkinson's.

According to the ALS Association (ALSA), roughly 90 percent of patients have "sporadic ALS," a type of ALS that is not inherited through genetic mutations. In these cases, the person diagnosed is the only person in their family with the disease. The onset of their disease typically occurs later than it does in patients with a known family history of ALS.

RELATED:If You Do This at Night, It May Be an Early Sign of Parkinson's, Study Says.

The remaining 10 percent of ALS cases are considered "familial ALS" (FALS). "In these cases, more than one person in the family has ALS and sometimes family members have frontotemporal dementia as well. People with FALS often start showing symptoms at earlier ages than in sporadic ALS," writes Deborah Hartzfeld, MS, a certified genetic counselor (via the ALSA).

This statistic can spur confusion for some about one's odds of developing ALS depending on family history. While nine out of 10 people with ALS will have no known family history, you're much more likely to develop ALS if you've got a family history of the disease than if you do not.

The FALS gene mutation is most often autosomal dominant, meaning only one parent must have it in order to pass it onto their children. It also means that the affected parent has one copy of the gene with a mutation and one without, meaning they have a 50 percent chance of passing it the mutation on to their offspring.

According to the ALS Association, "typically, although not always, there will be someone in each generation with ALS and/or dementia," which appears alongside ALS in one third of cases. It is worth noting that not everyone with the genetic mutation will go on to develop symptoms of ALS.

For more health news sent directly to your inbox, sign up for our daily newsletter.

Though 90 percent of ALS cases are not the result of an inherited genetic mutation, genetic screening can help you better understand your risk if you do have a family history. This will typically require either a blood or saliva test, and can take several months to get results. The results can only be interpreted if the person in your family diagnosed with ALS is also able to participate in testing.

However, the ALSA points out that even with genetic testing, you cannot rule out the possibility of passing on familial ALS. "Not having an identified genetic mutation does not eliminate a FALS diagnosis and other family members may still be at risk for developing ALS," the organization explains. Speaking with your doctor is the first and most important step to find out your personal riskespecially if you're presenting with any possible ALS symptoms.

RELATED:This Is The Single Best Way to Predict Your Heart Attack Risk, Experts Say.

90 Percent of People With ALS Have This in Common, Experts Say - Best Life

Predictive Genetic Testing And Consumer/Wellness Genomics Market Size and Growth 2021-2027 | Top Manufacturers Illumina, BGI, Genesis Genetics,…

New Jersey, United States,-The report titled Predictive Genetic Testing And Consumer/Wellness Genomics Market is a comprehensive document containing valuable insights into market elements such as drivers, restraints, competitive landscape, and technology development. The report offers a comprehensive analysis of key segments and future growth prospects for a better understanding of the market. The current COVID-19 pandemic has seriously altered market dynamics and the global economy. The report includes an analysis of the impact of the pandemic on the global market. It also provides current and future impact studies. The report provides a comprehensive analysis of the dynamic changes in trends and demands due to the COVID-19 pandemic. The report also contains a post-COVID scenario and prospects for future growth.

Competitive analysis includes key players and the innovations and business strategies they have implemented. The report captures the best long-term growth opportunities for the industry and includes the latest process and product developments. The report provides basic information of the companies along with their market position, history, market capitalization, and revenue. The report includes the sales figures, market growth rate and gross profit margin of each player based on regional classification and overall market position. The report provides a separate analysis of recent business strategies such as mergers, acquisitions, product launches, joint ventures, partnerships and collaborations.

Get | Download Sample Copy with TOC, Graphs & List of Figures @

Key Features of the Report:

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

The report provides valuable insights into the advancement of the Predictive Genetic Testing And Consumer/Wellness Genomics market and related approaches to the Predictive Genetic Testing And Consumer/Wellness Genomics market with an analysis of each region. The report also discusses the dominant aspects of the market and examines each segment.

Market Breakdown:

The market breakdown provides market segmentation data based on the availability of the data and information. The market is segmented on the basis of types and applications.

The report further studies the market segmentation based on the types of products offered in the market and their end-uses/uses.

Predictive Testing Consumer Genomics Wellness Genomics

By the application, this report covers the following segments:

Breast & Ovarian Cancer Cardiovascular screening Diabetic Screening & Monitoring Colon Cancer

Get Discount On The Purchase Of This Report @

Predictive Genetic Testing And Consumer/Wellness Genomics Market Report Scope

To understand the Predictive Genetic Testing And Consumer/Wellness Genomics market dynamics, the market is analyzed across major global regions and countries. Verified Market Reports provides customized specific regional and country-wise analysis of the key geographical regions as follows:

North America:USA, Canada, Mexico

Latin America:Argentina, Chile, Brazil, Peru, and Rest of Latin America

Europe:UK, Germany, Spain, Italy, and Rest of EU

Asia-Pacific:India, China, Japan, South Korea, Australia, and Rest of APAC

Middle East & Africa:Saudi Arabia, South Africa, U.A.E., and Rest of MEA

Key Elements Addressed in the Report:

Market Scenario:

The report highlights the essential features of the business sphere of the Predictive Genetic Testing And Consumer/Wellness Genomics industry. It covers development trends, factors driving the growth of the market, and segments influencing the growth of the market. It covers the product types, applications, types, deployments, and developments happening in the market.

Market Highlights:

The report provides an in-depth analysis of the market involving key elements, revenue estimations, cost analysis, import/export, production and consumption trends, CAGR, gross margin, and supply & demand patterns. The report further gives an idea about the development factors and advancement patterns of the Predictive Genetic Testing And Consumer/Wellness Genomics industry.

Analytical Tools:

The Predictive Genetic Testing And Consumer/Wellness Genomics Market is assessed through extensive primary and secondary research, which is further validated and verified by industry experts and professionals. The report examines key players operating in the market along with their market position, market share, revenue, gross margin, and business strategies. SWOT analysis and Porters Five Forces Analysis are conducted to examine and assess the market and its players. Moreover, the report also offers a feasibility study and investment return analysis to assist the readers in making strategic investment plans.

How will the report help your business grow?

? This document provides statistics on the value (in USD) and size (in units) of the Predictive Genetic Testing And Consumer/Wellness Genomics industry from 2021 to 2028.

? The report also details major competitors in the market that will have a greater impact on Predictive Genetic Testing And Consumer/Wellness Genomicss business.

? Comprehensive understanding of the fundamental trends affecting each sector despite the greatest threat, the latest technologies and opportunities that can create a global Predictive Genetic Testing And Consumer/Wellness Genomics market for both supply and demand.

? The report will help the client identify the key results of the major market players or rulers of the Predictive Genetic Testing And Consumer/Wellness Genomics sector.

For More Information or Query or Customization Before Buying, Visit @

Visualize Predictive Genetic Testing And Consumer/Wellness Genomics Market using Verified Market Intelligence:-

Verified Market Intelligence is our BI-enabled platform for narrative storytelling of this market. VMI offers in-depth forecasted trends and accurate Insights on over 20,000+ emerging & niche markets, helping you make critical revenue-impacting decisions for a brilliant future.

VMI provides a holistic overview and global competitive landscape with respect to Region, Country, and Segment, and Key players of your market. Present your Market Report & findings with an inbuilt presentation feature saving over 70% of your time and resources for Investor, Sales & Marketing, R&D, and Product Development pitches. VMI enables data delivery In Excel and Interactive PDF formats with over 15+ Key Market Indicators for your market.

Visualize Predictive Genetic Testing And Consumer/Wellness Genomics Market using VMI @

About Us: Verified Market Reports

Verified Market Reports is a leading Global Research and Consulting firm servicing over 5000+ global clients. We provide advanced analytical research solutions while offering information-enriched research studies.

We also offer insights into strategic and growth analyses and data necessary to achieve corporate goals and critical revenue decisions.

Our 250 Analysts and SMEs offer a high level of expertise in data collection and governance using industrial techniques to collect and analyze data on more than 25,000 high-impact and niche markets. Our analysts are trained to combine modern data collection techniques, superior research methodology, expertise, and years of collective experience to produce informative and accurate research.

Our research spans over a multitude of industries including Energy, Technology, Manufacturing and Construction, Chemicals and Materials, Food and Beverages etc. Having serviced many Fortune 2000 organizations, we bring a rich and reliable experience that covers all kinds of research needs.

Contact us:

Mr. Edwyne Fernandes

US: +1 (650)-781-4080UK: +44 (753)-715-0008APAC: +61 (488)-85-9400US Toll-Free: +1 (800)-782-1768



Go here to see the original:
Predictive Genetic Testing And Consumer/Wellness Genomics Market Size and Growth 2021-2027 | Top Manufacturers Illumina, BGI, Genesis Genetics,...

DPYD genotyping to improve patients’ therapy response – Open Access Government

Genetic testing, or more specifically pharmacogenomics, plays an important role by enabling healthcare providers to more accurately predict which treatments will work well, as well as which drugs may lead to unwanted side effects.

In the case of cancer treatments, it is also possible to look at the genome of the tumour itself to see which therapies are most likely to be effective. The Clinical Pharmacogenetics Implementation Consortium (CPIC) is an international group dedicated to facilitating the use of pharmacogenomic testing for patient care. One such example of this is dihydropyrimidine dehydrogenase (DPD) enzyme deficiency screening, by way of DPYD gene testing. Yourgene Health are proud to be supporting the international roll out of this screening to the benefit of millions of patients undergoing treatment for cancer.

Fluoropyrimidines such as 5-Fluorouracil (5-FU) and its prodrugs capecitabine and tegafur are chemotherapy agents widely used in the treatment of patients with gastrointestinal (GI), head/neck, breast, and other forms of solid tumour cancer. Only a fraction of a fluoropyrimidine drug is transformed into active cytotoxic agents. The dihydropyrimidine dehydrogenase (DPD) enzyme is necessary to catabolise most of these agents to inactive products, thus limiting the circulating levels of fluoropyrimidines. When DPD enzyme activity is deficient, patients treated with standard dosing of fluoropyrimidines are at significantly increased risk of severe toxicities or even death. The DPYD gene encodes for the synthesis of the DPD enzyme. DPD enzyme deficiency is strongly correlated with certain variants in the DPYD gene.

Fluoropyrimidines-based chemotherapy is used to treat over two million patients every year across the world. 3-8% of individuals are believed to be carriers of one or more known risk variants in DPYD gene. Carriers of a causative variant are at up to an 88% risk of severe toxicity if treated with a standard dose. DPYD testing helps identify those individuals who are at increased risk of these toxic side effects. These patients can be offered alternative therapies or lower treatment doses. The CPIC has issued guidance on dosage modifications recommended for a select number of genotypes and their associated activity score. Pre-emptive genotyping of all patients for these specific variants has proven highly precise in predicting an adverse drug response, with a specificity of ~95%.

Late last year NHS England announced that all at-risk cancer patients (approximately 38,000 each year) will now routinely be tested for DPYD variants. The Elucigene DPYD assay is already in use across multiple laboratories in several English Genomic Laboratory Hubs, including Liverpool and Cambridge.

The assay is also being used to provide nation-wide testing in Wales following a successful pilot programme with All Wales Medical Genomics Service (AWMGS), and for Scotland in within the Genetic Consortium Laboratories. In Wales alone, the test is used to screen approximately 200 patients each month. If the screen positive rate of 6% identified in the pilot continues, we anticipate 144 cancer patients will be prevented from having toxic chemotherapy reactions over the next year.

Please note: This is a commercial profile

2019. This work is licensed under aCC BY 4.0 license.

Editor's Recommended Articles

See the original post:
DPYD genotyping to improve patients' therapy response - Open Access Government

Here to stay: The era of telehealth | @theU – @theU

This piece originally appeared on the Good Notes blog.

Virtual health care is here to stay. Many believe the era of telehealth was launched by the coronavirus pandemic. It wasnt, but the health crisis certainly accelerated it. Prior to the pandemic, 2% of University of Utah Health providers had seen patients virtuallynow, 90% have. From March 2020 to March 2021, our providers held 400,000 virtual telehealth sessions. That amounts to between 6,000 and 8,000 sessions a week.

Telehealth will continue to evolve. It already involves more than live transmission of a patients face onto a providers device while the patient describes his or her state of health and asks questions. As diagnostics continue to improve, patients will be able to do more within their own homes. Wearable medical devices are increasingly integrated with remote care delivery. Remote labs continue to emerge, changing how patients monitor their health. Think of swabs that patients collect in the comfort of home and drop into a mailbox for analysis. This exists for genetic testing companies like 23andMe. We did it with COVID-19 tests. Coronavirus testing advanced quite rapidly so that someone at home could do a self-swab and send it back to a central lab.

For more complex lab diagnostics, imagine the day when a lab technician comes to your home to collect samples for testing or perform imaging tests like an X-ray. The idea is to flip the supply chain upside down: Instead of the patient coming to the hospital, lab or imaging center, why not the hospital, lab, or imaging center going to the patient?

The premise of all these things is making health care more convenient, easier to access, and ultra-consumer-centered. Delivery in the home, or wherever it may be convenient for the patient, is a rapidly expanding trend. Video visits are just one component of it. Certain visits still need hands-on evaluation, often with a video component. From my perspective as an orthopaedist, we had to develop a structure for telehealth sessions to be effective. We now have a short video we send to patients ahead of time that tells them the multiple steps they should take before treatment. For a new patient appointment, I need the patient to make certain videos and take certain photographs of themselves to send in, before I see them virtually. My colleagues and I intend to streamline virtual visits even more because its incredibly cost-effective and time-effective for the patient.

Telehealth also means better access to care and treatment at U of U Health for our patient base geographically spread across the Mountain West and beyond. We have one of the most rural populations of a major academic medical center anywhere in the country. Virtual care gives us a chance to reach out, talk to, and evaluate patients across broad geography without them needing to leave their homes or burn carbon fuels. It gets us even closer to University of Utah Healths goal of providing our regional population with access to world-class patient-centered care.

With telehealths initial success and great potential, its still not for everyonenor effective for every condition. Many patients remain skeptical about virtual visits, thinking their physician may not get an accurate picture or full understanding of their health issue. There are also patients who just find comfort and reassurance from in-person conversations. We need to give patients choice. As long as it is clinically appropriate, telehealth works wellespecially when we match the right circumstances to a patients preference.

Our data shows that whats wanted is as varied as our patient populations. A core group of more digitally literate patients quickly recognized the benefits of virtual care. Most of these patients connect to us with their smartphones. They are motivated to learn quickly because digital technology connects with their physicianand helps them bring in family members from dispersed locations to participate in health care visits. Yet theres a huge swath of our patient population that hasnt had enough digital experience to be comfortable talking device to device.

The telehealth option is increasingly widespread. Its not just at U of U Health, an academic health organization with state-of-the-art digital equipment, where the reconfigured world of patient care is underway. Traditional health care business models of all sizes are expanding home-based clinical care. Coalitions have formed among health care groups to support policy changes that designate the home as a site of clinical service.

With vaccinations and the number of COVID cases falling during the last couple of months, theres been an appropriate decrease in virtual care within our system. But it has not returned to pre-COVID levels. It is here to stay. So our mission in approaching the new normal is to pivot and be especially strategic about virtual care to ensure that we use it to meet the needs of our patients. Whenever possible, we also want to offer the deep resources of our academic tertiary health care system. We need to maintain exceptional value with high standards of quality and experience for patients and providers.

Here to stay: The era of telehealth | @theU - @theU

Direct to consumer Genetic Testing Market Research Insight 2021 Complete Overview & Qualitative Analysis by Major Companiess like 23andMe,…

The Latest Direct to consumer Genetic Testing Market report helps to identify the growth factors and business opportunities for the new entrants in the Global Direct to consumer Genetic Testing industry with a detailed study of Market Dynamics and technological innovations and trends of the Global Direct to consumer Genetic Testing Market. The report covers all leading vendors operating in the market and the small vendors which are trying to expand their business at a large scale across the globe. That report presents strategic analysis and ideas for new entrants using a historic data study. The study report offers a comprehensive analysis of market share in terms of percentage share, gross premium, and revenue of major players functioning in the industry of the Global market. Thus, the report provides an estimation of the market size, revenue, sales analysis, and opportunities based on the past data for current and future market status.

This research report offers PESTEL analysis, Porters Five Force Analysis, and Ecosystem analysis of the Global Direct to consumer Genetic Testing Market. Furthermore, the research report covers all the major countries and regions which have a good market scale of different vendors in those regions. Also, the report forecasts the market size of the Global Direct to consumer Genetic Testing Market in Compound Annual Growth Rate in terms of revenue during the forecast period. The research report also offers in-depth analysis about the Agreements, collaboration, and partnership among different vendors across the globe to expand the business of the Global Direct to consumer Genetic Testing Market.

Request for a sample copy of the report to get extensive insights into Direct to consumer Genetic Testing market and Get Upto 30% Discount at

Top listed Players for Global Direct to consumer Genetic Testing Market are:

How has the competitive landscape of this industry been categorized?

Direct to consumer Genetic Testing Market Segmentation by Type, Application, and Region as follows:

By Type:

By Application:

Geographically, this report is segmented into several key Regions along with their respective countries, with production, consumption, revenue, and market share and growth rate of Direct to consumer Genetic Testing in the following regions:

For more Customization, Connect with us at

Valuable Points Covered in Direct to consumer Genetic Testing Research Study are:

Reasons to Access Direct to consumer Genetic Testing Market Report:

Buy Full Research Report at


Contact Name: Rohan


Phone: +1 (407) 768-2028

Original post:
Direct to consumer Genetic Testing Market Research Insight 2021 Complete Overview & Qualitative Analysis by Major Companiess like 23andMe,...

Birmingham University and Nonacus partnership – SelectScience

Nonacus, a provider of genetic testing products for precision medicine and liquid biopsy, and the University of Birmingham have partnered to develop a non-invasive test for bladder cancer. The test, which is expected to be available by mid-2022, will use highly sensitive liquid biopsy technology developed by Nonacus, and a panel of biomarkers validated by Dr. Rik Bryan and Dr. Douglas Ward from the Universitys Bladder Cancer Research Centre, to diagnose the disease from urine samples.

Bladder cancer is the seventh most common cancer in the developed world. In the UK, over 100,000 people a year are referred to hospital clinics that investigate for bladder cancer, usually after passing blood in their urine (haematuria). The first stage of investigation is usually cystoscopy, which involves inserting a camera into the bladder. Of these 100,000 patients, around 12% are subsequently diagnosed with bladder cancer, normally after a second invasive procedure to extract a biopsy.

Dr. Bryan, Director of the Bladder Cancer Research Centre, commented: While blood visible in the urine should always be investigated, over 80% of people who have a cystoscopy at a haematuria clinic are diagnosed with non-malignant conditions or have no abnormality. Unfortunately, the remaining 20% will need a further invasive procedure to confirm a diagnosis. What is required is a highly sensitive and specific, non-invasive test that can rapidly determine those who need a biopsy and those who do not, and a urine test is the obvious place to start.

While the liquid biopsy approach is attractive, the low levels of tumor DNA in a background of DNA from normal tissues require highly sensitive analytical techniques to obtain accurate results. However, researchers at the University started their work in the knowledge that Nonacus had successfully pioneered commercial non-invasive prenatal tests to identify low levels of fetal DNA in maternal blood samples. Moreover, the company was developing methods to allow confident and sensitive calling of mutations from as little as 10ng of DNA.

The researchers used deep sequencing of tumor DNA to identify mutations that are present in the majority of urothelial bladder cancers (UBCs). Their work, which was funded by Cancer Research UK and an MRC Confidence in Concept grant, involved sequencing 23 genes from tumor samples collected from 956 newly diagnosed, treatment-nave patients. This deep sequencing of genes identified 451 unique mutations that were present in over 96% of tumors. The researchers also demonstrated that these mutations were identifiable in urine samples collected at the same time as tumor sampling.

As the researchers have shown, mutated DNA in a urine sample can be extracted from cancer cells shed into the urine from the lining of the urinary tract or can be found as cell-free DNA fragments2. However, extracting DNA from the cancer cells provides more reliable amounts of DNA for the test, especially when only small volumes of urine may be available. Coupling the mutation panel with the unique molecular identifiers and the proprietary target capture technology provided by the Nonacus Cell3 Target will provide a much more sensitive test than the existing PCR-based approach. The researchers are already working on validating this combination in a further 600 cases (including non-cancer cases) and they expect to publish data on sensitivity and specificity within six months.

Nonacus intends to launch the new bladder cancer test within 12 months, and the final product will include access to bioinformatics software to help with analysis. The company expects the test will provide high sensitivity for all stages and grades of disease and will ensure the test is available worldwide to laboratories, hospitalsand clinics.

Promisingly, the original research also determined the influence of the mutations on cancer progression, time to recurrence, and overall and disease-specific survival in patients with non-muscle-invasive bladder cancer (NMIBC), and disease-specific survival in patients with muscle-invasive bladder cancer (MIBC), raising the possibility that the test could be used to stratify patients according to risk.

Chris Sale, CEO of Nonacus, commented: We expect this partnership to deliver better care and outcomes for patients by reducing the number of invasive procedures, providing earlier diagnosis and speeding up access to treatment for people with bladder cancer.

Tony Hickson, Chief Business Officer at Cancer Research UK, said: "As funders of much of the world-class, cutting-edge cancer research happening in the UK, we offer unique opportunities to commercial partners looking for early involvement in new discoveries. Having Nonacus on board to help transform promising findings in the lab into a new non-invasive test to diagnose bladder cancer is a testament to how commercial collaborations have the potential to transform the lives of patients. We are looking forward to seeing the next steps as the test is developed and rolled out to the UK and beyond.

Allen Knight, Chair of Trustees, Action Bladder Cancer UK, said: This really is very exciting and has the potential to make an incredible difference for patients and for Bladder Cancer treatment. Currently, urine tests do not accurately pick up bladder cancer, and invasive tests are required to confirm a diagnosis. A urine test that can rapidly determine who needs these tests will be a very welcome development. Many patients, myself included, find cystoscopies very uncomfortable at best, and they can have lasting side effects. This research could pave the way for routine screening, common in other cancers, but unavailable at present for Bladder Cancer."

For more of the latest science news, straight to your inbox, become a member of SelectScience for free today>>

Read the original here:
Birmingham University and Nonacus partnership - SelectScience

Global Genetic Testing (Equipment & Consumables) Market 2021-2025: Rising Approval of Advanced Genetic Testing Products and Increasing…

DUBLIN--(BUSINESS WIRE)--The "Global Genetic Testing Market 2021-2025" report has been added to's offering.

The genetic testing market is poised to grow by $5.39 billion during 2021-2025, progressing at a CAGR of about 12%.

The market is driven by the rising prevalence of genetic diseases and disorders, rising approval of advanced genetic testing products, and increasing affordability due to reduction in the cost of genetic testing.

The report on the genetic testing market provides a holistic analysis, market size and forecast, trends, growth drivers, and challenges, as well as vendor analysis covering around 25 vendors. The report offers an up-to-date analysis regarding the current global market scenario, latest trends and drivers, and the overall market environment. The genetic testing market analysis includes product segment and geographic landscape.

This study identifies the advancements in next-generation sequencing as one of the prime reasons driving the genetic testing market growth during the next few years. Also, the growing adoption of direct-to-consumer genetic tests in early disease diagnosis and the growing adoption of pharmacogenetic testing in reducing adverse drug events will lead to sizable demand in the market.

The publisher's robust vendor analysis is designed to help clients improve their market position, and in line with this, this report provides a detailed analysis of several leading genetic testing market vendors that include Abbott Laboratories, Agilent Technologies Inc., bioMerieux SA, Bio-Rad Laboratories Inc., F. Hoffmann-La Roche Ltd., Illumina Inc., Myriad Genetics Inc., QIAGEN NV, Quest Diagnostics Inc., and Thermo Fisher Scientific Inc.

Also, the genetic testing market analysis report includes information on upcoming trends and challenges that will influence market growth. This is to help companies strategize and leverage all forthcoming growth opportunities.

The study was conducted using an objective combination of primary and secondary information including inputs from key participants in the industry. The report contains a comprehensive market and vendor landscape in addition to an analysis of the key vendors.

Key Topics Covered:

Executive Summary

Market Landscape

Market Sizing

Five Forces Analysis

Market Segmentation by Product

Segmentation by Application

Customer Landscape

Geographic Landscape

Vendor Landscape

Vendor Analysis


For more information about this report visit

See the original post:
Global Genetic Testing (Equipment & Consumables) Market 2021-2025: Rising Approval of Advanced Genetic Testing Products and Increasing...

MammaPrint 70-Gene Signature Identifies Ultralow-Risk Patients With Outstanding Prognosis in Breast Cancer – Cancer Therapy Advisor

Researchers evaluated the clinical utility of genetic testing with MammaPrint 70-gene signature to determine how well this assay works in comparison with clinical assessment to determine the need for chemotherapy in women with breast cancer involving 0 to 3 lymph nodes. The phase 3 MINDACT findings, which included the survival outcomes of patients with an ultralow risk 70-gene signature, were presented during the 2021 American Society of Clinical Oncology Annual Meeting.

The 70-gene signature can identify patients with an ultralow risk of distant recurrence. These 1000 MINDACT patients had an excellent 8-year breast cancerspecific survival (BCSS) above 99%, regardless of clinical risk, and low rates of distant metastasis, explained Josephine Lopes Cardozo, MD, of the Netherlands Cancer Institute.

The median follow-up for disease assessment was 8.7 years. Of the 6693 patients enrolled in the study ( Identifier: NCT00433589), 1000 patients (15%) were identified as having an ultralow risk using 70-gene signature profiling and 67% of these patients were older than age 50. A majority of the patients were estrogen receptorpositive (99%), lymph nodenegative (80%), had grade 1 or 2 tumors (96%), and tumors below 2 cm in size (81%).

Continue Reading

Systemic therapy was administered in 83% of the study population; 69% of patients received endocrine therapy (ET), 14% received ET in combination with chemotherapy, and 16% did not receive adjuvant systemic therapy (AST). The trials primary endpoint was distant metastasis-free interval (DMFI).

At a median duration of 8 years, excellent DMFI and BCSS was observed in the low-risk and ultralow-risk group of patients. The 8-year DMFI for low-risk and ultralow-risk groups was 94.5% (95% CI, 93.6-95.3) and 97.0% (95% CI, 95.8-98.1), respectively. The 8-year DMFI in the ultralow-risk group who had not received AST was 97.8% (95% CI, 95.3-100). The 8-year DMFI in the ultralow-risk group who had received ET only was 97.4% (95% CI, 96.1-98.7). Based on the preliminary results after adjusting for tumor and treatment characteristics, DMFI for ultralow-risk vs low-risk groups had a hazard ratio (HR) 0.66 (95% CI, 0.46-0.95). The 8-year BCSS for genomic low-risk and ultralow-risk patients was 98.2% (95% CI, 97.7-98.7) and 99.6% (95% CI, 99.1-100), respectively.

We can confirm that the 70-gene signature can identify patients with ultralow risk of distant recurrence and these patients could be candidates for further de-escalation of treatment, further reducing overtreatment and the risk of side effects, concluded Dr Cordozo.

Disclosure: This research was supported by a grant from the EORTC Breast Group and the Netherlands Cancer Institute. Several study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors disclosures

Read more ofCancer Therapy Advisorscoverage of the 2021 ASCO Annual Meeting by visiting the conference page.


Cardozo JL, Drukker C, Schmidt M, et al. Outcome of patients with an ultralow risk 70-gene signature in the MINDACT trial. J Clin Oncol. 2021;39:(suppl 15; abstr 500). doi:10.1200/JCO.2021.39.15_suppl.500

View original post here:
MammaPrint 70-Gene Signature Identifies Ultralow-Risk Patients With Outstanding Prognosis in Breast Cancer - Cancer Therapy Advisor

An AstraZeneca, Merck drug slows the return of genetic breast cancer. Will testing speed up? – BioPharma Dive

A medicine from AstraZeneca and Merck & Co. has become the first of its type to slow the return of a particularly aggressive, hereditary form of breast cancer, a significant finding that may push doctors to do more genetic testing in patients with the disease.

The results, from a 1,836-patient study of a drug called Lynparza, are being presented at the American Society of Oncology's virtual meeting Sunday and were published Thursday in the New England Journal of Medicine. They've been anticipated ever since AstraZeneca and Merck in February surprisingly said the Phase 3 study succeeded, without giving details. They could help change care for patients with an inherited gene mutation associated with roughly 5% of all breast cancers.

"These results will transform the prognosis, overnight, for [these] patients," said Chatrick Paul, the head of AstraZeneca's U.S. oncology division.

Patients in the so-called OlympiA trial received either Lynparza or placebo for a year of "adjuvant" treatment, meaning after surgery to remove a tumor and standard drugs such as radiation, chemotherapy or hormone therapy. All participants inherited a mutation to a gene, BRCA1 or BRCA2, and were considered at high risk of cancer recurrence because of the size of their tumor or other factors. Their tumors were either HR-positive or triple-negative, two of the three main forms of breast cancer.

Among these patients, researchers found Lynparza reduced the risk of disease progression or death by 42% compared to a placebo after a median of 2.5 years of follow-up. About 86% of Lynparza-treated patients were cancer-free, versus 77% of those who got a placebo.

Patients on Lynparza also had a 43% lower risk of developing or dying from more lethal "distant" tumors that appear elsewhere.

Those numbers are "clinically meaningful and practice changing," said Sayeh Lavasani, an assistant clinical professor at City of Hope's Department of Medical Oncology & Therapeutics Research. Lavasani wasn't involved in the trial.

Follow-up is still limited, however, meaning it's unclear how long a year of Lynparza treatment will extend patients' lives data that Paul acknowledges is a "critical piece" of missing information.

The drug is "no walk in the park," added Debu Tripathy, the chair of MD Anderson Cancer Center's breast medical oncology department, referring to side effects like nausea, vomiting and diarrhea. In rarer cases, treatment was associated with severe anemia that can require a blood transfusion.

The authors of the study also admit they don't know how Lynparza compares to a type of chemotherapy, Xeloda, that has been proven an effective adjuvant treatment for some breast cancer patients.

Nonetheless, "this is a big win," said Tripathy, who also wasn't involved in the trial. Assuming approval from regulators, "patients with higher-risk cancers who have BRCA mutations will now be getting this."

The drugmakers aim to get the results in the hands of regulators "as quickly as possible," said Roy Baynes, Merck's senior vice president of global clinical development.

Breast cancer remains the most commonly diagnosed cancer as well as the second-leading cause of cancer death among women, despite substantial advances in treatment over the past few decades. The death rate associated with the disease declined 40% between 1989 and 2017, according to the American Cancer Society. Better early cancer detection is a big reason why.

A majority of early breast cancer patients are now cured of their disease, according to Tripathy. But about a third relapse. When they do, their cancers become much more deadly. In response, researchers have sought to bring new drugs like immunotherapies and other therapies known as CDK 4/6 inhibitors that have been approved in advanced disease into earlier settings, when they might stop cancers from returning.

Broadening use of these types of drugs comes with trade-offs, though. If cleared to lower the risk of recurrence, high-priced cancer drugs would likely become more widespread, raising costs for uninsured patients and, potentially, insurance premiums for others, Tripathy said. Insurers can block access as well; Lavasani is "hoping" they will cover Lynparza, should it be approved as an adjuvant treatment. Often, the drugs are approved on the likelihood, but not the certainty, that they'll help people live longer.

Clinicians and regulators also have to decide whether the benefits are worth added side effects for patients who tend to be younger and healthier. The FDA, for instance, asked Merck for more data when it rejected its immunotherapy Keytruda in early triple-negative breast cancer. An advisory panel was wary of the side effects associated with treatment, which Tripathy noted, can include permanent liver or kidney injury. (Merck has since gathered more data and intends to re-file for approval.)

Lynparza had what Lavasani, of City of Hope, called "acceptable toxicities," most frequently nausea and fatigue. Consistent with what's been reported in earlier testing, the only severe side effect seen in more than 5% of patients was anemia, which occurred in 79, or about 9%, of those who got Lynparza.

Those side effects were balanced against Lynparza's benefit in slowing breast cancer's return in patients who had inherited mutations to the BRCA1 or BRCA2 genes. These patients tend to develop cancers at a younger age, have faster-moving disease and a much higher risk of relapse, some studies have shown. OlympiA study authors noted, for instance, that almost one-quarter of patients on placebo with HR-positive cancer a typically slow-moving tumor had invasive disease or died within three years.

There were no marketed drugs specifically tailored to BRCA1 and BRCA2 breast cancers for patients with metastatic disease until the FDA approved Lynparza and Talzenna, another, similar PARP inhibitor from Pfizer, in 2018. Those approvals came amid early enthusiasm for PARP inhibitors, which are mainly used as "maintenance" therapies in ovarian cancer.

Testing for BRCA mutations, as a result, has lagged for those with early-stage disease: 60% to 70% of patients with triple-negative tumors, and 25% to 35% of HR-positive patients are being tested, according to Ipsos Healthcare's Global Oncology Monitor.

"It's not where it should be," says Paul, of AstraZeneca.

The OlympiA results, then, could change testing practice. The data are a "call to action" to make sure patients know their BRCA status, said Merck executive Baynes.

Oncologists, Tripathy added, may push to broaden testing guidelines for patients beyond those who get cancer at a young age or have a family history of BRCA mutations.

"We would like to get to a point someday when we take the risk totally away, that having breast cancer is no longer something that can lead to fatality," Tripathy said. "We got a little closer to that with this trial."

Read the rest here:
An AstraZeneca, Merck drug slows the return of genetic breast cancer. Will testing speed up? - BioPharma Dive

Family finds answers to rare, genetic glaucoma – University of Michigan Health System News

Eight years later Adam, now 21 and a gymnastics coach, would have high blood pressure and experience a carotid artery blowout. Thankfully, though, his neck muscles saved his life.

The teeth abnormalities, as well as the carotid artery blowout, are likely due to the calcification in the body that patients with this illness can present, said Prasov. With the genetic testing, we were able to conclude this disease was Singleton-Merten syndrome type II an extremely rare, autosomal, dominant condition with only 3 families documented in literature.

With their collective expertise, the team was able to better characterize the familys symptoms: pediatric-onset glaucoma, spontaneous tendon rupture, arthritis, and a psoriasis-looking skin rash. Glaucoma and skin rash were the most prominent symptoms.

There werent many cases in literature to compare the familys disease presentation to, so Prasov, whose research focuses on inherited eye diseases, worked with colleagues at the National Institutes of Health and U-M clinician-scientists Johann Gudjonsson, M.D., Ph.D., a dermatologist, and J. Michelle Kahlenberg, M.D., Ph.D., a rheumatologist, to more deeply phenotype the family.

When looking for new genes, it can take a considerable amount of time. Once we could perform sequencing, we could move a lot faster to get a diagnosis. The Gibson family had an official diagnosis approximately a year after we performed the sequencing. said Prasov.

He adds that working in the field of genetics comes with certain challenges; the provider making the diagnosis wants to be absolutely certain that the genetic change is causing the disease, as it can have a big impact on clinical management.

More certainty came with the identification of another family across the globe in Belm, Brazil, that had a similar peculiar set of clinical findings and the same genetic variant in DDX58. By comparing notes among all of the identified families, Prasov and his team were able to give a definitive diagnosis.

But the final piece of this medical puzzle required additional work in the laboratory.

According to Prasov, very few families with mutations in DDX58 have a multi-system disorder featuring calcification in the body, skin rashes and childhood glaucoma.

Published in the Journal of Medical Genetics, Prasov led an international team, including researchers and clinicians from U-M, the NIH, Brazil, and Harvard, to provide the first complete molecular and histological assessment of the eye and skin findings in Singleton-Merten syndrome type II. Together, they definitively showed that the familys mutation behaves similarly to other mutant proteins in how it sets off an inflammatory cascade in the body in absence of a definitive RNA trigger.

Because of the communication between these doctors, more of this condition is now better understood, said Eryn. Their curiosity led to answers, but also helped us feel like we were finally being heard and cared about. Finally, after generations of unanswered questions and enormous health challenges someone took this seriously and had access to the resources to find answers about this condition.

Since skin is the most available tissue for molecular analysis, Gudjonsson and his team were able to obtain samples from Stan and Adam to compare Stans gene expression to his children. Somewhat surprisingly, they found that the inflammatory response was only active in affected skin, and not in neighboring skin or in the blood.

The study team also found that the family in Brazil had a more severe case of Singleton-Merten syndrome. By working with the Brazilian clinicians and researchers, Prasov was able to compare data and see if other genetic triggers or environmental influences affect the presentation of the disease.

This is something I want to explore more, he said. Rachel and Adam dont have many of the system effects of this disease, but they could develop them in the future. Understanding all the factors that may provoke more severe illness may help us be able to prevent those developments from occurring.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

The study reinforces the idea that genetic triggers or environmental influences may affect the presentation of Singleton-Merten syndrome, as the research team found that some family members carrying the mutation only have the most common feature of childhood glaucoma, while others have more extensive disease features that affect the immune system.

This means there could be other children in the world with this glaucoma that dont have the other features of the disease, said Prasov. But theyre at risk for developing those features later in life and suffer serious health consequences if providers dont know to look out for all these symptoms.

There are drugs like Rinvoq, a medication that Stan now takes, that can help calm the immune system and disrupt the downstream pathway associated with more serious disease. According to Stan, the medication has helped his skin discoloration resolve.

Im so grateful to know what this condition is. Knowing how to treat it would be a miracle, but you have to start somewhere, said Stan. This research will benefit my own children but also their children when they start families of their own. They know what to look out for.

This study highlights how a genetic diagnosis can have a big impact on clinical practice and patient outcomes, said Prasov. Understanding this disease pathogenesis is also important in the field of glaucoma care and research. Prasov now leads a multidisciplinary clinic in which he partners with pediatric medical geneticists to provide ophthalmic genetic care for families like the Gibsons.

The next step for the U-M research team is to generate an animal model to better understand the disease and hopefully find a targeted drug treatment that may have fewer side effects. They also plan to further study the role of DDX58 in the eye, since the RNA binding protein can sense viral infections like Rubella and Zika: viruses known to provoke glaucoma. The hope is that they can find a way to block this receptor or the downstream signaling, in turn preventing the glaucoma from developing.

Stan has a severe case of Singleton-Merten so my hope is that if researchers can crack his case, they can know how to treat anyone with the condition, said Eryn. If it wasnt for Kellogg Eye Center, both of my kids would be blind. Im just grateful beyond words.

This research was supported by the National Eye Institute (NEI K12 EY022299, NEI P30 EY07003, RBH, BG, and BPB), the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health (R01-AR060802, P30-AR075043 and K01-AR072129), the National Institute of Allergy and Infectious Diseases (R01-AR069071), the A. Alfred Taubman Medical Research Institute, the Parfet Emerging Scholar Award and the Roche Postdoctoral Fellowship.

Paper cited: DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation, Journal of Medical Genetics. DOI: 10.1136/jmedgenet-2020-10744

Originally posted here:
Family finds answers to rare, genetic glaucoma - University of Michigan Health System News

Genetic health conditions every woman should know about – The Indian Express

It is understood that while genes are the bodys blueprint its basic physical and functional unit of heredity not a lot of people pause to think about genetic anomalies or disorders that may be affecting their health.

Women, especially, are unaware of just how much their genes impact their health, and how prevention of certain genetic diseases can be done to ensure a healthy offspring.

Dr Hema Purandarey, consultant medical and reproductive geneticist, MedGenome Centre for Genetic Health Care shares with some health conditions that women are more prone to through genetics, and the tests available to detect them.

1. Chromosomal aneuploidy in babies of expecting mothers: A condition in which a cell has an incorrect number of chromosomes. If there is an error in the normal processes of fertilization, there can be changes to the number or structures of chromosomes which can lead to an offspring with birth defects due to the abnormal structure or number.

The most commonly seen type of defect is an extra chromosome 21 called trisomy 21 or Down syndrome. Genetic screening and diagnostic tests are available with pre-test and post-test counselling which can identify these changes in the foetal state. These include specific noninvasive screening tests like NIPT and parental karyotypes and invasive diagnostic tests such as amniocentesis and chorionic villus sampling to identify the genetic makeup of the baby.

2. X-linked inherited disorders: Some disorders are X-linked, which means a female with 2X chromosomes will be a carrier, but if she passes this to her male offspring, it will be affected since males only inherit one X chromosome from their mother, the other being a Y chromosome inherited from the father. Finding out about carrier status prior to conception can help to plan genetic counselling. Testing is available for several such disorders like Fragile X, Hemophilia, Duchenne Muscular Dystrophy etc.

3. Hematological disorder screening: Couples have to be screened if they are carriers for common hematological disorders such as thalassemia and sickle cell disease. Consanguinity increases the risk of having any recessive genetic disorder by approximately 25 per cent.

A carrier screening test can help prevent both X-linked and conditions such as thalassemia and sickle cell anemia from being passed on. It also helps couples understand and plan better for their future. This is a comprehensive test screening, with the capability to detect mutations causing disease in more than 2,000 genes.

4. Recurrent pregnancy loss: Three or more consecutive pregnancy losses before 20 weeks from the last menstrual period are defined as recurrent pregnancy loss or RPL. Epidemiological studies show 1 per cent to 2 per cent of pregnant women suffer from RPL. Genetic causes of recurrent pregnancy losses account for about 2-5 per cent. Chromosomal or genetic abnormalities lead to most losses of pregnancy. The abnormality might come from the early embryo, egg, or sperm.

There are genetic tests that can help detect if the pregnancy loss was due to an abnormal number of chromosomes, and provide insights to plan and support a successful pregnancy in future.

5. Implantation failure during IVF: One in two human preimplantation-IVF embryos are chromosomally abnormal. This causes them to implant onto the uterine wall or not stay there long enough for a successful pregnancy. This leads to miscarriages and failed IVFs. If there is a family history of a genetic disorder, the fertilized embryo can be tested using pre-implantation genetic testing. If a donor was used, the donor sperm or the egg can be tested.

6. Hereditary breast and ovarian cancer: In women, approximately 15 per cent of all ovarian cancers and 7 per cent of all breast cancers are caused by mutations in the BRCA1 and BRCA2 genes. At present, we have predictive tests like BRCA1 and BRCA2 gene tests for this. Actor Angelina Jolie had a history of breast and ovarian cancer. So, she asked to be genetically tested and when it was clear she was susceptible, she had the required surgeries. Early detection can not only save life but also reduce the financial burden of advanced treatment.

For more lifestyle news, follow us: Twitter:lifestyle_ie|Facebook:IE Lifestyle| Instagram:ie_lifestyle

Here is the original post:
Genetic health conditions every woman should know about - The Indian Express

Animal Genetics Market worth $7.7 billion by 2026 – Exclusive Report by MarketsandMarkets – PRNewswire

CHICAGO, June 4, 2021 /PRNewswire/ -- According to the new market research report "Animal Genetics Market by Products & Services (Live Animals (Poultry, Porcine, Bovine, Canine) Genetic Material (Semen (Bovine, Porcine), Embryo (Bovine, Equine)) Genetic Testing (DNA Testing, DNA Typing, Genetic Traits Testing)) - Global Forecast to 2026", published by MarketsandMarkets, the global market is projected to reach USD 7.7 billion by 2026 from USD 5.5 billion in 2021, at a CAGR of 7.1% during the forecast period.

Browse in-depth TOC on "Animal Genetics Market"

269 Tables 36 Figures 296 Pages

Download PDF Brochure:

The growth of this market is majorly attributed to the increasing consumption of animal-derived protein, growing global population & rapid urbanization, growing focus on identifying superior breeds, increased adoption of genetic services to prevent genetic diseases & business loss, and increased adoption of advanced genetic technologies. On the other hand, the shortage of skilled professionals in veterinary research is a key factor restraining market growth.

By product type segment, the live animals segment accounted for the largest market share during the forecast period.

Based on products and services, the animal genetics market has been segmented into live animals, genetics materials, and animal genetic testing services. The factors attributing to the large revenue of the live animals segment include high demand for live animals for breeding purposes. The introduction of disease-resistant animals has further boosted the demand for live animals, as they are economically viable for owners and increase their profitability.

Poultry accounted for the largest animal genetics marketshare in the live animals segment during the forecast period.

In the live animals segment, poultry accounted for the largest market share during the forecast period. This can be attributed to the strong demand for poultry and eggs in developed countries. Additionally, due to the growing population and rapid urbanization in developed countries, the demand coming from these regions is also increasing significantly.

In the segment of the genetic material, semen accounted for the largest market share during the forecast period.

Under the segment of the genetic material, semen held the largest share, most of which came from bovine semen during the forecast period. Growth in this market is mainly driven by the increasing need for raising highly productive animals to meet the growing demand for meat and other animal-derived products.

Request Sample Pages:

Europe dominates the Animal Genetics market during the forecast period.

Europe accounted for the largest share of the market in 2020. Better accessibility to technologies and well-established distribution channels, the growing demand for livestock food products, high intake of animal-derived proteins, and increasing animal welfare activities are the major factor contributing to this.

The major players in the global animal genetics market include Neogen Corporation (US), Genus (UK), URUS (US), EW Group (Germany), Groupe Grimaud (France), CRV Holding (Netherlands), Topigs Norsvin (Netherlands), Zoetis (US), Envigo (US), Hendix Genetics (Netherlands), Animal Genetics (US), VetGen (US), DanBred (Denmark), Tropical Bovine Genetics (India), Trans Ova Genetics (US), Inguran LLC dba ST Genetics (US), Semex Alliance (Canada), Genetic Veterinary Sciences (US), Cobb-Vantress (US), Milk Source (US), and Eurogene AI Services (Ireland).

Speak to Analyst:

Browse Adjacent Markets: Biotechnology Market ResearchReports & Consulting

Browse Related Reports:

Companion Animal Pharmaceuticals Market by Indication (Infectious Diseases, Antibiotics, Parasiticides, Vaccines, Pain), Animal Type (Dogs, Cats, Horses), Distribution Channel (Veterinary Hospitals & Clinics), COVID-19 Impact - Global Forecast to 2026

Animal Antibiotics and Antimicrobials Market by Product (Tetracycline, Penicillin, Sulfonamide, Macrolide, Cephalosporin, Lincosamide), Mode of Delivery (Premixes, Oral Solution, Injection), Animal (Food producing & Companion) - Global Forecast to 2026

About MarketsandMarkets

MarketsandMarkets provides quantified B2B research on 30,000 high growth niche opportunities/threats which will impact 70% to 80% of worldwide companies' revenues. Currently servicing 7500 customers worldwide including 80% of global Fortune 1000 companies as clients. Almost 75,000 top officers across eight industries worldwide approach MarketsandMarkets for their painpoints around revenues decisions.

Our 850 fulltime analyst and SMEs at MarketsandMarkets are tracking global high growth markets following the "Growth Engagement Model GEM". The GEM aims at proactive collaboration with the clients to identify new opportunities, identify most important customers, write "Attack, avoid and defend" strategies, identify sources of incremental revenues for both the company and its competitors. MarketsandMarkets now coming up with 1,500 MicroQuadrants (Positioning top players across leaders, emerging companies, innovators, strategic players) annually in high growth emerging segments. MarketsandMarkets is determined to benefit more than 10,000 companies this year for their revenue planning and help them take their innovations/disruptions early to the market by providing them research ahead of the curve.

MarketsandMarkets's flagship competitive intelligence and market research platform, "Knowledge Store" connects over 200,000 markets and entire value chains for deeper understanding of the unmet insights along with market sizing and forecasts of niche markets.

Contact:Mr. Aashish MehraMarketsandMarkets INC.630 Dundee RoadSuite 430Northbrook, IL 60062USA: +1-888-600-6441Email: [emailprotected] Research Insight: Visit Our Web Site:

SOURCE MarketsandMarkets

More here:
Animal Genetics Market worth $7.7 billion by 2026 - Exclusive Report by MarketsandMarkets - PRNewswire

Long-time pancreatic cancer survivors offer inspiration and advice – Pancreatic Cancer News & Stories

Top row, left to right: Steve Nelson, 4-year survivor; Anne Shimabukuro, 15-year survivor; Roberta Luna, 19-year survivor Bottom row, left to right: Teona Ducre, 5-year survivor; Cathy Schwandt, 8-year survivor; Nick Pifani, 4-year survivor

Editors note: In honor of National Cancer Survivors Day on June 6, 2021, we invited members of PanCANs Survivor Council to pass along encouraging words to pancreatic cancer patients and to also share what it means to them to be a survivor. The Survivor Council is a group of volunteers created to ensure the survivors voice, experience and expertise are integrated into PanCANs programs and initiatives. Today and every day, we honor all survivors and remember those whove lost their life to the disease. We are here for everyone affected by pancreatic cancer.

PanCAN: Celebrating life is one of the themes of National Cancer Survivors Day. How do you celebrate life?

Teona Ducre: I do my best to practice gratitude every day.Since surviving cancer, I understand that even the little things I may have taken for granted before seeing my children smile, hanging out with friends and family on a random Tuesday afternoon, or just waking up in the morning are really big blessings.

Roberta Luna: I celebrate life by savoring every moment, not taking anyone or anything for granted, trying to be the best person I can.Stop and smell the flowers, dance like nobodys watching, sing like no one is listening! I know these are all clich but when youve been given what seems like a death sentence, the little things really take on new meaning.

Steve Nelson: I celebrate every time I find an opportunity to tell my story of hope.

Nick Pifani: I celebrate life by making memories with the people I love and making a difference for a better tomorrow. I share my story with newly diagnosed patients with the goal of giving them hope.

Anne Shimabukuro: I value my time more. My priorities have shifted my family and my health come first. I am more willing to say no than I was before.

PanCAN: Have you started any new traditions since your cancer diagnosis?

Roberta: On April 9, 2013, a group of survivors, family and friends and I celebrated life by jumping out of an airplane. What we thought was a one-time event has turned into an annual tradition. Every April, for eight years and counting, a group of us skydive from a height of 14,000 feet. Theres always at least one first-time jumper with us.

Nick: Every year we celebrate my Whipple surgery anniversary. I was fortunate to come out of surgery cancer-free and I consider it a second birthday because I got a second chance at life.

PanCAN: What is your advice for people living with pancreatic cancer or for those who are newly diagnosed?

Roberta: My advice to someone newly diagnosed is to get all the information, but dont let it weigh you down. Ask questions, be your own advocate, remember to enjoy life and keep fighting.

Steve: Never give up hope! I have a brother who is a 17-year survivor.And as a member of PanCANs Survivor Council, I know many others who have beaten the odds, and those odds get better every year.You could be next!

Nick: Remember that you are not a number and you dont fall into a specific category or statistic. If youve been recently diagnosed, contact PanCANs Patient Services and get genetic testing.

Anne: If youre living with pancreatic cancer, keep living! Do what you love. And give yourself a break. If youve been recently diagnosed, dont think about thestatistics. Your case is unique and its the only case you should care about. Put yourself first. And dont be afraid to ask for help.

PanCAN: What does it mean to you to be a survivor?

Teona: It means I can accomplish anything. Whenever I am faced with a challenge, I think, This is nothing. You survived one of the deadliest cancers in the world so you can do this, too. I also get the privilege to share my story to encourage others and that means a lot to me.

Roberta: To be a survivor means Ive been given a very special precious gift, the gift of life, the gift to love more deeply, the gift to inspire someone, to make a difference, to give back, to do better.

Steve: Due to genetic testing and a regular screening regimen, my cancer was discovered early. I encourage anyone with first or second-degree relatives who have or have had pancreatic cancer to get tested for genetic mutations. And if they find they have a mutation, to embrace regular screenings. It could save their life, like it did mine!

Nick: My story is different because I lost three family members to the disease I am the lone survivor. As a survivor, I carry a piece of my lost family members with me it inspires me to make a difference in this fight. This is how I honor them and make sure their cancer battle is never forgotten.

Cathy: We, the survivors, need to be the voice for all those who are no longer here.

Anne: As a 15-plus-year survivor, my survivorship is not always top of mind its now a part of me. This journey has given me strength as well as more self-confidence. Ill often remind myself, I conquered pancreatic cancer; I can deal with anything.

Read the original here:
Long-time pancreatic cancer survivors offer inspiration and advice - Pancreatic Cancer News & Stories

Genetic links to be investigated in ground-breaking heart rhythm research – UNSW Newsroom

The role genetics play in atrial fibrillation (AF) complications such as heart failure and stroke will be investigated as part of new research involving UNSW researchers.

Led by Victor Chang Cardiac Research Institutes scientist and UNSW Conjoint Professor Diane Fatkin, the multicentre research team were awarded $1 million by The Heart Foundation to gain new knowledge about genetic causes of AF.

The condition is a major public health problem with one in three individuals at risk of developing it in their lifetime.

Prof. Fatkin said the research being done by her team is breaking fresh ground, and further advancement would not be possible without the recent financial boost.

This will really allow us to do in-depth genetic analyses on our patients, and we already have a large cohort of [those] available. This will enable us to do these genetic analyses for the first time in Australia, so it really is a major new initiative, she said.

We will use cutting-edge tools for rapid low-cost genetic analyses of AF patient cohorts that will enable us, for the first time, to look at single-gene mutations, genetic risk scores, and genetic effects on anti-arrhythmic drug metabolism. The cost and outcomes of genetic testing, and patient preferences for testing, will also be assessed.

AF is a disorder of the hearts electrical activity that can lead to stroke, heart failure and even early death.

A persons genetic make-up is an important determinant of AF susceptibility, but genetic information is not part of current patient care.

Scientists at the Victor Chang Cardiac Research Institute and UNSW would like that to change.

Prof. Fatkin said those facing choices about their treatment may really benefit from knowledge about genetic influences when selecting appropriate drug therapies or interventions, such as ablation therapy.

Genetics, we are thinking, may also be important for predicting the risk of recurrence of atrial fibrillation after the ablation procedures, she said.

Our data will define high-risk patient subsets and have direct implications for the screening and clinical management of family members.

Prof. Fatkin is looking at different types of patients across the research. Some have a family history of AF and the collated data will help identify family members also at risk of developing AF in the future.

Another group that is part of the research includes those without a clear family history of AF but who still have the condition.

A third group being studied is athletes who have developed AF after a lifetime of competitive sporting activity.

Prof. Fatkin hopes this research will lead to the ability to predict which athletes are likely to have heart problems in the future.

This may inform sports choices even in young kids, and we can advise those who are at high genetic risk to potentially change the type of sport that they participate in, she said.

The Heart Foundations Strategic Grants are awarded with the aim to generate innovative and collaborative research projects in the areas where identified gaps in cardiovascular health exist.

The 2020 Predictive Modelling Grant was awarded to Prof. Fatkin to investigate the role of genetics for risk stratification in AF.

See the original post here:
Genetic links to be investigated in ground-breaking heart rhythm research - UNSW Newsroom

Global Genetic Testing Market Trends, Forecast and Competitive Analysis (2021-2028) | GeneDx,Invitae,Pathway Genomics The Manomet Current – The…

The GlobalGenetic TestingMarket Research Report 2021-2028 is a valuable source of insightful data for business strategists. It provides the industry overview with growth analysis and historical & futuristic cost, revenue, demand and supply data. The research analysts provide an elaborate description of the value chain and its distributor analysis. This Market study provides comprehensive data which enhances the understanding, scope and application of this report. The Global Genetic Testing Market Report enfolds a comprehensive analysis and assessment of the global Genetic Testing market. The report mainly intends to help market players and clients to understand the market in terms of structure, scope, profitability, attractiveness, and growth possibilities. The report also highlights a detailed review of market segmentation, potentials, emerging trends, and volatilities in the global Genetic Testing market. Global Genetic Testing Market Report 2021 report records detailed estimation to improve complete information of the global Genetic Testing market today and its industrial outlook based completely on the current and purpose marketplace.

Get a Free Sample PDF Report to understand our report before you purchase @

The report contains in-depth information on all the major aspects of the global Genetic Testing market. This report contains key information such as facts and figures, market research, market analysis, SWOT analysis, risk analysis, competitive landscape, regional analysis and growth estimates. The report also contains qualitative and quantitative research which gives you a detailed overview of the global Genetic Testing market. The report is perfect as you will get crucial information on the recent market scenario, based on which you can make business decisions, risk assessments and investments in the Genetic Testing industry. The report provides the market share, market size (volume and value), rate of growth by types, applications, and combines both qualitative and quantitative methods to make micro and macro forecasts in several regions or countries.The Genetic Testing market including the ebb and flow patterns, openings, drivers, restrictions, statistics is collected through authentic sources, and improving Plans for the Industry.

Scope of Genetic Testing Market:The global Genetic Testing market is valued at XX million US$ in 2019 and will reach XX million US$ by the end of 2028, growing at a CAGR XX% of during 2021-2028. The objectives of this study are to define, segment, and project the size of the Genetic Testing market based on company, product type, application and key regions.

Moreover, the report elucidates a thorough assessment based on organizational, manufacturing, and financial details of leading Genetic Testing companies. Their remunerative market strategies such as product launches, brand developments, mergers, acquisitions, partnerships, product innovation, technology adoption, product research, and development are also analyzed in this report. The report further evaluates their Genetic Testing sales volume, production volume, value chain, raw material sourcing strategies, revenue, annual growth rates, and CAGR. Their organizational structure, corporate alliances, distribution networks, and global presence are also studied in the report. From the market shares in the industry, to their growth and expansion plans, investments, developments and all other key information has been compiled in this report to help you get a complete overview on the performance of the top players in the Genetic Testing industry. The report includes the regional forecasts, competitive landscape analysis, risk analysis and discussion of industry trends, market size, market shares, growth potential estimates and future business plans of the key players.

The research report has incorporated the analysis of different factors that augment the markets growth. It constitutes trends, restraints, and drivers that transform the market in either a positive or negative manner. This section also provides the scope of different segments and applications that can potentially influence the market in the future. The report entails detailed profiling of each company, and information on capacity, production, price, revenue, cost, gross, gross margin, sales volume, sales revenue, consumption, growth rate, import, export, supply, future strategies, and the technological developments, are also included within the scope of the report. In the end, the Genetic Testing Market Report delivers a conclusion which includes Breakdown and Data Triangulation, Consumer Needs/Customer Preference Change, Research Findings, Market Size Estimation, Data Source. These factors are expected to augment the overall business growth.

Competitive Landscape: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 comprehensive report provides a significant microscopic look at the market. The reader can identify the footprints of the manufacturers by knowing about the global revenue of manufacturers, the global price of manufacturers, and production by manufacturers during the forecast period of 2021 to 2028. Company profile section of players such asGeneDx, Invitae, Pathway Genomics, Counsyl Inc, Asper Biotech, GenePlanet, Courtagen Life Sciences, Gene By Gene, Natera Inc, Regulatory, GeneTests, United Gene, HI Gene, Berry Genomics, 23andMe Inc, 360Jiyin, Novogene, CapitalBio, Agen, Biomedlab, Biomarker, Annoroad, Aiyin Gene, Aijiyin, Repconex, Find Bio-Tech, SinoGenoMax, Gene Kang, Geeppine, BGI.

Geographical data will help the reader understand the best performing regions. This report has added an examination and increment pace of the market in these districts covering North America (United States, Canada and Mexico) Europe (Germany, France, UK, Russia and Italy) Asia-Pacific (China, Japan, Korea, India and Southeast Asia) South America (Brazil, Argentina, Colombia etc.) Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa)

Global Genetic Testing Market by Type:Newborn Screening, Diagnostic Testing, Carrier Testing, Preimplantation Genetic Diagnosis, Prenatal Diagnosis, Predictive and Presymptomatic Testing, Pharmacogenomics

Global Genetic Testing market segments by Applications:Cardiology, Dermatology, Hematology, Hereditary Cancer, Immunology, Metabolic Disorders and Newborn Screening, Neurology, Ophthalmology, Pediatric Genetics, Others

The key points covered in this report are: This report offering the outline of the market, market size and share, and growth rate over the forecast period 2021-2028 The report covers the data of the top regions, product type, application, market value and size, industry verticals, and end-users of the market. It also states the up-to-date landscape, historical data, and future forecast of the market. To realize the supply and demand analytics, including supply and consumption ratio, mapping of the market has been carried out. Porters five forces analysis and SWOT analysis, including the cost structure analysis, has been carried out in this report. The report also offers a Six-year prediction examination on the basis of how the market is foreseen to grow.

The Global Genetic Testing report offers: Market share assessments for the regional and country level segments. Market share analysis of the top industry players. Strategic recommendations for the new entrants. Market forecasts for a minimum of 6 years of all the mentioned segments, sub segments and the regional markets. Market Trends (Drivers, Constraints, Opportunities, Threats, Challenges, Investment Opportunities, and recommendations). Strategic recommendations in key business segments based on the market estimations. Competitive landscaping mapping the key common trends. Company profiling with detailed strategies, financials, and recent developments. Supply chain trends mapping the latest technological advancements.

Why To Buy Report?1.It offers a comprehensive analysis of industry-based verticals.2.It offers 2021-2028-year forecast assessment on the basis of markets growth.3.It helps in understanding the key segments and sub-segments.4.It provides review from different stakeholders, vendors, and clients for the Genetic Testing Market.5.Track the competitive developments as well as research and developments in the global Genetic Testing Market.6.What are the key consequences of the five forces analysis of the Global Genetic Testing market

The report can help to know the market and strategize for business expansion accordingly. Within the strategy analysis, it gives insights from market positioning and marketing channel to potential growth strategies, providing in-depth analysis for brand fresh entrants or exists competitors within the Genetic Testing industry. Global Genetic Testing Market Report 2021 provides exclusive statistics, data, information, trends and competitive landscape details during this niche sector.

Read Detailed Index Report @

Moreover, the report provides knowledge of the leading market players within the Genetic Testing market. The industry changing factors for the market segments are explored in this report. This analysis report covers the growth factors of the worldwide market based on end-users. In 2020, the market was growing at a mild rate and with the rising adoption of strategies by key players, the market is predicted to rise over the projected horizon. The report also tracks the most recent market dynamics, like driving factors, restraining factors, and industry news like mergers, acquisitions, and investments.

Customization of the Report:1)All segmentation provided above in this report is represented at country level.2)All products covered in the market, product volume and average selling prices will be included as customizable options which may acquire no or minimal additional cost (depends on customization).

Contact Us

Continued here:
Global Genetic Testing Market Trends, Forecast and Competitive Analysis (2021-2028) | GeneDx,Invitae,Pathway Genomics The Manomet Current - The...

Cancer research: New advances and innovations – Medical News Today

In the second part of our whats exciting the experts series, Medical News Today spoke with another group of cancer experts. We asked them what recent advances have given them the most hope. Here, we provide a sneak peek at the fascinating forefront of cancer research in 2021.

Cancer is not a single disease but a collection of diseases. It is complex and does not readily give up its secrets. Despite the challenges cancer poses, scientists and clinicians continue to hone the way in which they diagnose and treat it.

Modern medicine means that diagnosis rates for many cancers are up, as are survival rates. However, with an estimated 19.3 million new cases of cancer worldwide in 2020, there is still much work to be done.

MNT recently contacted a number of medical experts and researchers and asked them to speak about the aspects of cancer research that they find most exciting. Their answers are fascinating and demonstrate the incredible variety of approaches that scientists are using to understand and combat cancer.

We will start todays journey into cutting edge oncology with a surprising guest: magnetically responsive bacteria.

Due to the difficulty of targeting systemically delivered therapeutics for cancer, interest has grown in exploiting biological agents to enhance tumor accumulation, explained Prof. Simone Schrle-Finke, Ph.D., from ETH Zurich in Switzerland.

In other words, getting cancer drugs to the right place is not as straightforward as one might hope. Prof. Schrle-Finke is among the researchers who are now enlisting the help of specialized bacteria.

She told MNT how scientists have known for a century that certain bacteria can colonize tumors and trigger regression. She explained that today, thanks to modern genetic engineering techniques, attenuated bacteria are available that can have a therapeutic effect exactly where this is necessary.

These therapeutic effects include secretion of toxins, competition for nutrients, and modulation of immune responses.

However, despite the promise of bacterial cancer therapy, there are still challenges to meet. Delivering the doses to the right place and getting them into the tumor remain foremost among challenges hampering clinical translation only about 1% of a systemically injected dose reaches the tumor, explained Prof. Schrle-Finke.

To address these challenges, her team at ETH Zurich is using magnetically responsive bacteria.

These so-called magnetotactic bacteria naturally orient themselves like compass needles to Earths magnetic field.

Although this ability evolved for navigation, scientists are keen to find out whether magnetic steering or pulling could allow them to repurpose it for cancer delivery.

In a recent study, Prof. Schrle-Finke and her colleagues used rotating magnetic fields to override the bacterias natural propulsion. As the authors of the study explain, they used swarms of magnetotactic bacteria to create a directable living ferrofluid.

These magnetotactic bacteria have a high demand for iron, so once they reach the tumor, as Prof. Schrle-Finke told MNT, they can metabolically influence cancer cells through starvation from this vital nutrient. We have shown in in vitro models that an increasing number of bacteria induce an upregulation of iron-scavenging receptors and death in cancer cells.

By uniting engineering principles and synthetic biology, we aim to provide a new framework for bacterial cancer therapy that addresses a major remaining hurdle by improving the efficiency of bacterial delivery using safe and scalable magnetic stimuli to these promising living therapeutic platforms.

Prof. Simone Schrle-Finke, Ph.D.

Personalized medicine is transforming the landscape of medicine and how healthcare providers can offer and plan personalized care for each of their patients, believes Dr. Santosh Kesari, Ph.D., director of neuro-oncology at Providence Saint Johns Health Center in Santa Monica, CA.

Dr. Kesari is also chair of the Department of Translational Neurosciences at Saint Johns Cancer Institute and regional medical director for the Research Clinical Institute of Providence Southern California.

Describing personalized medicine, Dr. Kesari said, It is an approach for disease prevention and treatment that takes into account biological, genetic, behavioral, environmental, and social risk factors that are unique to every individual.

He continued, Personalized medicine is rooted in early detection and prevention; integrating data from genomics and other advanced technologies; digital health monitoring; and incorporating the latest medical innovations for optimizing outcomes.

This is becoming very apparent in oncology, where genetic testing for tumor mutations and predispositions is increasingly being utilized and showing more value in using targeted drugs more wisely and improving outcomes.

Dr. Santosh Kesari, Ph.D.

Some personalized cancer approaches are already in use, such as EGFR, HER2, and NTRK inhibitors and the super personalized CAR-T cells.

According to Dr. Kesari, the future of personalization is bright, and progress has only accelerated in the past 5 years.

Continuing with the personalization theme, Dr. Robert Dallmann from Warwick Medical School at Warwick University in the United Kingdom talked with us about chronotherapy:

Propelled by the 2017 Nobel Prize in Medicine or Physiology [going] to three circadian biologists for uncovering the molecular mechanism of circadian biological clocks, cancer chronotherapy is gaining critical momentum to enter mainstream oncology especially in the context of personalized medicine.

Dr. Dallmann explained that many key physiological processes in the cells of our body are modulated in a daily fashion by the circadian clock. These cellular clocks are disrupted in some tumors but not in others.

Interestingly, a functional clock in the tumor predicts the survival time of patients, which has been shown for brain as well as breast tumors.

Therefore, he explained, if scientists could determine the clock status in solid tumors, it would allow doctors to more easily determine whether a patient is at high or low risk. It might also help guide therapy.

There is great potential in optimizing treatment plans with existing drugs by taking into account the interaction with the circadian system of the patient, continued Dr. Dallmann.

More recently, the circadian clock mechanism itself has been proposed as a novel treatment target in glioblastoma. The authors of the glioblastoma study concluded that pharmacologic targeting of circadian networks specifically disrupted cancer stem cell growth and self-renewal.

However, whether this might be generalized to many solid tumors or even other chronic diseases remains to be elucidated, said Dr. Dallmann.

In summary, he told MNT, circadian clocks have long been recognized to modulate chronic disease on many levels. The increased mechanistic understanding has the potential to improve diagnosis and existing treatments of cancer, as well as develop a new class of clock-targeting treatments.

Dr. Chung-Han Lee is a medical oncologist at Memorial Sloan Kettering Cancer Center in New York. He is also a member of the Kidney Cancer Associations Medical Steering Committee. He talked us through recent advances in the treatment of kidney cancer.

The development and subsequent regulatory approval of combination immunotherapy for patients with metastatic kidney cancer have led to transformative change in the lives of many patients and are the hallmark of how greater scientific understanding has impacted cancer care, Dr. Lee told MNT.

Prior to 2005, treatment for metastatic kidney cancer was very limited, with most patients passing away in less than 1 year despite undergoing treatment. According to Dr. Lee, the development of antiangiogenic drugs that inhibit the growth of new blood vessels was among the first breakthroughs to improve the outcomes for patients.

However, even with antiangiogenic drugs, most patients ultimately developed resistance to treatment, and 18 months was considered a long-term response. Next came immunotherapies.

Prior to the development of antiangiogenic medications, it was known that kidney cancer could be treated by activating the immune system to better recognize the disease. However, the tools to activate the immune system were often very nonspecific. Therefore, responses to these early immunotherapies were rare, and the side effects related to treatment were not only burdensome but also could be life threatening.

With recent advances in immunotherapy, we have demonstrated that more targeted immunotherapies that activate specific immune checkpoints are not only possible but can have substantially increased activity against disease.

Two emerging treatment approaches have now become the new standard of care for kidney cancer: dual immunotherapies (such as ipilimumab/nivolumab) or combinations of antiangiogenic targeted therapies with immunotherapies (such as axitinib/pembrolizumab).

In patients treated with ipilimumab and nivolumab, over 50% remain alive at 4 years, and with some [combined antiangiogenic and immunotherapy approaches], nearly 50% of patients remain on their initial therapy at 2 years.

Despite these advances, Dr. Lee is far from complacent, telling us that there remains considerable work to be done. [] Unfortunately, in 2021, for most patients, kidney cancer remains fatal. Even for those who have outstanding responses to treatment, most still require ongoing systemic therapy.

With the rapid improvements in treatments, the development of correlative biomarkers, and the improved biologic understanding of the disease, we have only started to entertain the possibility of curative, time-limited therapy.

Building on the sacrifices of patients and caregivers and the hard work of clinicians, research staff, and scientists, a cure may, one day, be a reality for our patients, he concluded.

Our study from late 2020 has shown that the antidepressant sertraline helps to inhibit the growth of cancer cells in mice, Prof. Kim De Keersmaecker from KU LEUVEN in Belgium told MNT.

Other studies had already indicated that the commonly used antidepressant has anticancer activity, but there was no explanation for the cause of this. Weve been able to demonstrate that sertraline inhibits the production of serine and glycine, causing decreased growth of cancer cells.

Cancer cells and healthy cells are often reliant on the amino acids serine and glycine, which they extract from their environment. However, certain cancer cells produce serine and glycine within the cell. They can become addicted to this production.

This internal production of serine and glycine requires certain enzymes, and these enzymes have become targets for cancer researchers. Preventing them from functioning can starve the cancer cells.

Previous studies have identified inhibitors of serine/glycine synthesis enzymes, but none have reached the clinical trial stage. As the authors of a KU LEUVEN study note, because sertraline is a clinically used drug that can safely be used in humans, it might make a good candidate.

Prof. De Keersmaecker explained that when used with other therapeutics, the drug strongly inhibited the growth of cancer cells in the mice.

The authors of the study concluded: Collectively, this work provides a novel and cost efficient treatment option for the rapidly growing list of serine/glycine synthesis-addicted cancers.

Christy Maksoudian from the NanoHealth & Optical Imaging Group team at KE LEUVEN is excited about the promise of nanotechnology for the treatment of cancer. She told MNT that because of the unique properties that emerge at such a small scale, nanoparticles can be designed in a multitude of ways to exhibit specific behaviors in organisms.

Currently, she explained, many available nanoformulations in the clinic are composed of organic materials because of their biocompatibility and safety. In this context, organic refers to compounds that include carbon.

However, she explains that inorganic nanomaterials, which do not contain carbon, also hold promise for cancer treatment because they possess further functionalities.

For instance, some magnetic nanoparticles, such as those of superparamagnetic iron oxide, can be magnetically guided toward the tumor, while gold nanoparticles generate heat upon exposure to near-infrared light and can, therefore, be used for photothermal therapy (via tumor tissue ablation).

In short, it is possible to introduce gold nanoparticles to the bloodstream of people with cancer. From there, these nanoparticles accumulate in tumors because tumors have particularly leaky blood vessels. Once that region is exposed to near-infrared light, the gold nanoparticles heat up and, consequently, kill cancer cells.

Because of the potential of such broad range of nanomaterial designs, there are always novel cancer therapies being developed.

Christy Maksoudian

I am excited to take part in this movement with my work on copper oxide nanoparticles. Maksoudian and her colleagues use copper oxide nanoparticles doped with 6% iron.

Maksoudian told MNT that these nanoparticles exploit intrinsic metabolic differences between cancer cells and healthy cells to induce high levels of toxicity in cancer cells while only causing reversible damage in healthy tissue.

The fact that such cancer-selective properties can arise due to minor modifications of the nanoparticles at the nanoscale is truly extraordinary and reaffirms the significant role that nanomedicine can play in expanding the treatment landscape for oncology.

Cancer is complex, so approaches to its treatment must match that complexity. As the summaries above demonstrate, scientists are not short on ingenuity, and the battle against cancer continues at pace.

Read the first part of our series on cancer researchers and their exciting work here.

Read more from the original source:
Cancer research: New advances and innovations - Medical News Today

Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications – DocWire News

This article was originally published here

Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Online ahead of print.


BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS), the most common inherited cancer syndromes, are attributed to a single heterozygous pathogenic variant (PV) in BRCA1/2 or in a DNA MMR gene, respectively. Little is known about the phenotype in double heterozygotes who carry PVs in both genes.

METHODS: Carriers of double-PVs in any DNA MMR gene and BRCA1/2 attending one of three tertiary oncogenetic clinics between 1/2005 and 1/2020 were identified by database search, and their relevant data were retrieved and analyzed.

RESULTS: Eleven double carriers from four seemingly unrelated Ashkenazi Jewish families were evaluated. All carried an Ashkenazi Jewish founder BRCA PV, BRCA2 c.5946delT/c.6174delT (n = 10) or BRCA1 c.185delAG (n = 1). Four carried the MSH2 c.1906G > C founder PV, and 3, the MSH6 c.3984_3987dupGTCA founder PV; 3 patients had the MSH6 c.3956_3957dup PV. Eight double carriers (73%) had cancer: breast cancer (5 cases, 2 bilateral), melanoma (2 cases), urothelial cancer (2 cases), and colon, endometrial, prostate, cutaneous squamous cell cancer, glioblastoma, gastric stromal tumor, and lymphoma (1 case each). Six carriers had 1-2 tumors, one had 3 tumors, and one had 5 primary tumors. Age at diagnosis of the first tumor was 36-76 years. All carriers met NCCN BRCA1/2 testing criteria, and 3 met the revised Bethesda guidelines.

CONCLUSIONS: This case series, supported by the literature, suggests that the phenotype of double MSH2/6 and BRCA1/2 carriers is not associated with early disease onset or a more severe phenotype. The findings have implications for improved genetic testing guidelines and treatment strategies.

PMID:34086170 | DOI:10.1007/s10549-021-06258-9

Original post:
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications - DocWire News