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Genetics

Precision Genetics Launches Combination Test to Detect COVID-19 and the Flu – PRNewswire

GREENVILLE,S.C., Nov. 10, 2020 /PRNewswire/ --Precision Genetics, a leader in the molecular laboratory and technology industries, announces today the launch of a new diagnostic test that simultaneously detects SARS-CoV-2 and Influenza A/B strains in upper respiratory tract specimens. The test is available to health systems, providers, employers, and academic institutions alike.

Precision Genetics' capabilities are essential for accurately detecting patients with COVID-19 and/or the flu. "By utilizing our high-complexity laboratory and testing methods, we can quickly and accurately distinguish between these viral infections," said Nate Wilbourne, founder and CEO of Precision Genetics. "Our goal as a molecular laboratory is to ensure the highest levels of quality and efficiency to our clinical partners."

The addition of this combination test comes just in time for the flu season. "Most current testing looks only for COVID-19. As influenza infection rates rise, testing individuals only for Covid-19 is insufficient to distinguish between various viral illnesses of the upper respiratory tract," said John Wrangle, M.D,Chief Medical Officer of Precision Genetics. "Knowing which virus a patient is infected with may help treating physicians, health professionals and health departments decide on the best course of treatment, surveillance and contact tracing."

About Precision Genetics

Precision Genetics is a high-complex molecular laboratory and technology company performing COVID-19 testing, COVID-19/Flu combination testing and pharmacogenomics testing for employer safety and wellness, pre-surgical risk analysis and mental health.

For more information on how your organization can benefit from our quick and reliable testing capabilities, please visit us at https://precisiongenetics.com, send inquiries to [emailprotected], or call our team at (877) 843-6544 (ext 4).

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Precision Genetics Launches Combination Test to Detect COVID-19 and the Flu - PRNewswire

Genetics

The Value of a Molecular Diagnosis of Epilepsy – Medical Device and Diagnostics Industry

When discussing a diagnosis of epilepsy, advances in genetic testing are proving that it is indeed all about the details. Comprehensive genetic testing is making it possible to drill down into those details. When testing is based on whole genome sequencing (WGS) technology, it is possible to identify genetic changes, or variants, in the 370-plus seizure-associated genes found amongst the 20,000 or so genes within the human genome or, more importantly, the large number of variants located within or spanning those genes. A single-method approach for detecting multiple variant types from a single patient sample can more accurately lead to a diagnosis, resulting in more-tailored medical management and providing a better basis for improved long-term outcomes and family planning.

In the United States, epilepsy is the fourth most common neurological condition, surpassed only by migraine, stroke, and Alzheimers disease. Each year, 150,000 people on average will develop epilepsy (48 out of 100,000) and its prevalence is currently estimated at around 2.2 million people (or 7.1 out of every 1,000 people). Epilepsy is a spectrum condition characterized by unpredictable seizures that can cause or co-occur with other health problems. There is a wide range of seizure types and the ability to control them varies from person-to-person, even within families. The cause of epilepsy is often unknown, but it is most often related to brain injury or genetics. However, the word epilepsy itself has nothing to do with the cause, severity, or type(s) of an individuals seizures.

Genetic seizure disorders span multiple classes. They can include specific syndromes in which a seizure is the only symptom as well as occur as part of broader neurodevelopmental conditions that present with additional features, such as intellectual disability. Seizures may also be present as a symptom of metabolic conditions and/or other disorders. Seizure disorders share symptoms (phenotypes) with many other conditions, which often make it difficult to determine the inheritance pattern from the family history. Causal variants may be inherited from a parent or simply show up new (de novo) in a persons DNA. In some cases, variants in multiple genes may together contribute to the clinical symptoms. Many different types of variants have been shown to cause seizure disorders.

This is why definitively diagnosing the genetic cause of epilepsy can be challenging. Traditionally, this is accomplished through multiple, sequential tests. This step-wise method typically begins with what is known as a chromosomal microarray, which involves structural analysis of a persons chromosomes and checks to make sure there are no large imbalances (extra or missing pieces) that could cause epilepsy. If the microarray does not reveal a positive result, the next step is usually single-gene or multi-gene panel testing, depending on the specific nature of the individuals symptoms. If no causal variant is identified with those tests, the final step is exome testing, if the patients insurance allows for multiple genetic tests. This results in a long process of repeated rounds of testing, with each individual round limited by the types of variants that can be detected, leaving gaps in variant coverage and detection, and therefore leaving gaps in the ability to properly diagnose a patient. That is because, as a general rule, microarray, panel, and exome tests individually do not perform well at detecting a broad spectrum of changes (variants) in genetic material.

Comprehensive testing based on WGS technology has the ability to detect a wide range of variant types not covered by traditional microarray, panel-based, or exome tests, as well as the ability to reanalyze patient data in the future without resequencing. Combining WGSs consistent, comprehensive sequence coverage with proprietary algorithms allows for the detection of variants without any size limitations. The result is more-comprehensive testing of the entire spectrum of variants and genes associated with genetic epilepsy. All of this is accomplished with a single blood draw (or saliva sample) and a turnaround time of six to eight weeks.

The ability to quickly establish a genetic cause of epilepsy utilizing WGS can provide the information necessary to control an individuals seizures as soon as possible. The longer a patient experiences uncontrolled seizures, the more likely they will suffer irreparable damage to the brain. Depending on their frequency and length, uncontrolled seizures can interfere with daily activities and can negatively impact someones quality of life. The sooner that clinicians can identify an individuals cause of seizures and treat it appropriately, the better the prognosis for the long-term management of disease.

Above: Image of aa sample collection kit from Variantyx.

In some cases, a genetic diagnosis may help guide the selection ofanti-seizure medications, as there are some well-known links between certain medications and specific genetic epilepsy disorders. Some medicines work better while others may cause adverse side-effects, all of which can be determined by pinpointing of the variant causing the disease. Comprehensive genetic testing may also bring to light the risk of epilepsy to other family members, including the risk of passing the disorder on to a child. A genetic diagnosis can also assist individuals and families in finding and accessing the proper resources, from advocacy groups to connections with families sharing in similar struggles, and in opening up the door to participation in clinical studies for individuals with a related genetic diagnosis.

In summary, a single-method approach for the detection of a genetic cause of epilepsy is achievable by identifying multiple-variant types from a single patient sample through WGS technology. The result is a cost-effective, comprehensive analysis of an individuals DNA summarized in a single, unified clinical report. Obtaining a genetic diagnosis through WGS may end what is often referred to as the diagnostic odyssey or the search for an answer by an individual or family as well as provide information to guide treatment and maximize a patients quality of life.

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The Value of a Molecular Diagnosis of Epilepsy - Medical Device and Diagnostics Industry

Genetics

Fulgent Genetics to Participate in the Credit Suisse 29th Annual Virtual Healthcare Conference – Yahoo Finance

TipRanks

The U.S. presidential election has come to a close, and Wall Street isnt opposed to the administration change. Last week saw the S&P 500 notch its second-best performance during an election week on record, even as Trumps chances of getting re-elected became slimer and slimer.Weighing in for Oppenheimer, Chief Investment Strategist John Stoltzfus noted, What appears clear so far is that the equity markets are not averse to a change of administration stateside at least so long as the Republicans maintain control over the Senate. Checks and balances on the Hill have been known to be important to investors over the course of history. The present in our view is no exception.There is, however, some uncertainty surrounding the Senate, with the two runoff elections for seats in Georgia scheduled for January 5, only 15 days before Inauguration Day. That said, Stoltzfus points out that continued better-than-expected Q3 results from S&P 500-listed companies, economic data tied to job gains and a sharp decline in the unemployment rate have also been helping to prop stocks up.Taking Stoltzfus outlook into consideration, we wanted to take a closer look at three stocks earning a round of applause from Oppenheimer, with the firms analysts forecasting over 100% upside potential for each. Using TipRanks database, we learned that the rest of the Street is in agreement, as all three boast a Strong Buy analyst consensus. Strongbridge Biopharma (SBBP)First up we have Strongbridge Biopharma, which is focused on developing therapies for rare diseases with significant unmet needs. Ahead of a key regulatory filing, Oppenheimer believes that SBBP's $2.12 share price reflects an attractiveentry point.Representing the firm, analyst Hartaj Singh points out that investor focus has landed squarely on Recorlev, the company's investigational cortisol synthesis inhibitor, in Cushing's syndrome. The company is gearing up to file an NDA for the therapy in Q1 2021, and the analyst is optimistic about its potential approval.In the LOGICS study, the therapy met its primary endpoint, with SBBP reporting the number of cases of a loss of mean urinary free cortisol (mUFC) response was 54.5% higher among patients who withdrew to placebo versus those who remained on Recorlev. Additionally, there was a rapid reversibility of the Recorlev treatment benefits on cholesterol following the switch to placebo given the 8-week time frame.Meanwhile, in the SONICS study, a significant benefit on mUFC normalization was observed in 30% of the patients and several cardiovascular secondary measures. It should also be noted that none of the 44 patients who were randomized discontinued due to adverse events.Post-LOGICS, we continue to view Recorlev as a differentiated treatment for Cushing's, both compared to off-label ketoconazole and the branded treatment landscape. Management reiterated its confidence in the drug's positioning, based on market research with payors and physicians. Given LOGICS reaffirming the clinical benefit profile observed in SONICS, we are encouraged by its potential to become a mainstay treatment for the disease, Singh explained.Whats more, management is not anticipating an AdComm meeting, and Singh thinks speculation on labeling both from a safety and efficacy perspective may increase prior to the potential PDUFA decision. To this end, he expects more visibility as the NDA filing and acceptance gets closer.Adding to the good news, the launch of Keveyis, the company's FDA-approved treatment for hyperkalemic, hypokalemic and related variants of Primary Periodic Paralysis (an ultra-rare neuromuscular disorder), is progressing well despite the COVID-19 pandemic, according to Singh.With quarterly sales of ~$8.0 million, above our estimate of ~$7.8 million, the growing trajectory of the launch has been encouraging, with additional room for long-term growth highlighted by management. We anticipate more credit could be ascribed to these efforts, following additional updates from life-cycle management strategies, the analyst commented.To this end, Singh rates SBBP shares an Outperform (i.e. Buy) along with a $7 price target. What's in it for investors? Upside potential of 233%. (To watch Singhs track record, click here)All in all, other analysts echo Singhs sentiment. 3 Buys and no Holds or Sells add up to a Strong Buy consensus rating. With an average price target of $8, the upside potential comes in at 272%. (See SBBP stock analysis on TipRanks)Molecular Templates (MTEM)Molecular Templates works to bring the next generation of immunotoxins called engineered toxin bodies (ETBs), which are a novel class of therapeutics with unique biology and a differentiated mechanism of action, to market. Although one of its trials was put on a partial clinical hold, Oppenheimer still believes its long-term growth narrative is strong.The Phase 2 monotherapy trial evaluating lead candidate MT-3724, an ETB that targets CD20 (a B-cell marker that is expressed in 90 percent of B-cell non-Hodgkins lymphoma (NHL)), was placed on partial clinical hold on November 4 following a treatment-related fatality. Management pointed to capillary leak syndrome (CLS) as the cause of the patient death. MT-3724 is being evaluated in three ongoing Phase 2 trials, one monotherapy and two combination.It should be noted that six patients (fatality patient and five treated in DLBCL monotherapy study) received the drug from the same batch, and the first five completed the study without evidence of CLS. Later PK analysis found peak drug exposure (Cmax) 3-4x expected levels in five out of six patients receiving the therapy from the lot. Management plans to investigate what caused the higher Cmax levels.Oppenheimers Kevin DeGeeter told clients, We would look to accumulate MTEM shares into any weakness based on expectation: 1) manufacturing batch inconsistency may have resulted in excess Cmax in limited number of patients providing clear path to remedy the problem, 2) limited read through on immunogenicity from MT-3724 (only product on first-gen ETB backbone) to other pipeline programs, and 3) guarded expectation for commercial opportunity of MT-3724 prior to clinical hold with market opportunity focused primarily on salvage patients.Even if the CLS is determined to be dose-related, the five-star analyst argues there may still be a path forward for MT-3724, as the monotherapy study is evaluating a dose of 50 g/kg while combination studies are assessing a 10-25 g/kg dose.Reflecting another positive, the hold doesnt impact studies for products on the second-generation ETB backbone, including MT-5111, TAK-169 and MT-6402. In addition, the company is set to provide a clinical update on CTX001, a potential treatment for sickle cell disease (SCD).DeGeeter opined, Our investment thesis is based, at least in part, on continued partnering of ETB platform to large biotechs for targets outside of MTEM's core oncology focus. Despite the clinical hold on MT-3724, MTEM remains in active discussions with potential partners. We'd view additional partnering deals as validation of the platform's overall safety profile.In line with his optimistic approach, DeGeeter rates MTEM an Outperform (i.e. Buy) along with a $20 price target. This figure indicates 123% upside potential from current levels. (To watch DeGeeters track record, click here)Are other analysts in agreement? They are. Only Buy ratings, 3 to be exact, have been issued in the last three months. Therefore, the message is clear: MTEM is a Strong Buy. Given the $18.33 average price target, shares could soar 108% in the next year. (See MTEM stock analysis on TipRanks)Provention Bio (PRVB)At the forefront of the autoimmune disease space, Provention Bio is working to improve the lives of patients from all over the world. With the company making significant headway in its efforts to gain approval for one of its therapies, Oppenheimer thinks that now is the time to snap up shares.On November 2, Provention Bio announced that the rolling submission of a BLA to the FDA for regulatory approval of teplizumab for the delay or prevention of clinical type 1 diabetes (T1D) in at-risk individuals had been completed. The submission included chemistry, manufacturing and controls (CMC) and administrative information modules. Now, the FDA has 60 days to review the final submission to determine if the BLA is complete, and then, a PDUFA date will be set.Writing for Oppenheimer, analyst Justin Kim points out that the BLA acceptance will be a key milestone for PRVB. We believe the external validation and review of the application would reflect favorably on the significant efforts Provention has made towards completion of this filing, namely manufacturing scale-up. As a potential advisory committee meeting and regulatory decision offer subsequently greater validation, we have confidence into these events based on teplizumab's established clinical profile.Going forward, Kim believes the therapys commercialization will become a central theme in 2021. Based on teplizumab's 14-day infusion cycle, logistics and physician/patient reception of the modality, especially during the COVID-19 pandemic, are attracting major attention, according to the analyst.Should the candidate ultimately be granted approval, screening and awareness work could reflect a significant tailwind, in Kims opinion. With it already having established meaningful relationships across key T1D advocacy groups and foundations, Provention is well-positioned and connected to build momentum for screening and identification initiatives. The analyst added, While the hurdle to execute successfully is high, reward, in our view, would be commensurate.When it comes to the long-term opportunity, the TN-10 population criteria remains a key area of focus for Kim, as these opportunities may not only expand the market opportunity for teplizumab but also significantly solidify its positioning the treatment paradigm. He also mentions that re-dosing paradigms and adjunctive use post-transplant for teplizumab are other points of strength.Summing it all up, Kim stated, PRVB remains underappreciated in our universe, potentially given macro themes around COVID-19 and intensified focus on momentum names. However, as continued execution carries PRVB through successful regulatory, pre-commercial, and commercial milestones, we believe the shares could enter a period of significant re-rating.Everything that PRVB has going for it prompted Kim to leave his Outperform (i.e. Buy) rating as is. Along with the call, he keeps the price target at $29, suggesting 106% upside potential. (To watch Kims track record, click here)Turning to the rest of the Street, the bulls have it on this one. With 4 Buys and no Holds or Sells assigned in the last three months, the word on the Street is that PRVB is a Strong Buy. At $28.75, the average price target implies 104% upside potential. (See PRVB stock analysis on TipRanks)To find good ideas for stocks trading at attractive valuations, visit TipRanks Best Stocks to Buy, a newly launched tool that unites all of TipRanks equity insights.Disclaimer: The opinions expressed in this article are solely those of the featured analysts. The content is intended to be used for informational purposes only. It is very important to do your own analysis before making any investment.

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Fulgent Genetics to Participate in the Credit Suisse 29th Annual Virtual Healthcare Conference - Yahoo Finance

Genetics

$5.4 Million Grant for Penn Medicine Researchers to Find Genetic Drivers of Testicular Cancer – UPENN Almanac

$5.4 Million Grant for Penn Medicine Researchers to Find Genetic Drivers of Testicular Cancer

The international hunt to find more genetic risk markers for testicular cancer is expanding. A team of researchers led by Katherine L. Nathanson, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania, was recently awarded $5.4 million over five years from the National Institutes of Health to continue the long-standing genomics work of the TEsticular CAncer Consortium (TECAC).

A total of nearly $7 million has been awarded to TECAC, which includes researchers from 27 institutions around the world, whose collaborative goal is understand the genetic susceptibility to testicular germ cell tumors (TGCT).

TGCT are the most common cancer in the United States and Europe in men between the ages of 15 to 45, and the number of cases has continued to rise over the past 40 years. Approximately 50 percent of the risk of disease is due to genetic factors, higher than for other cancer types.

To date, TECAC has identified 22 novel susceptibility alleles, bringing the total number of risk markers to 66. Dr. Nathanson led a study in 2017 published in Nature Genetics that identified eight of those markers in previously unknown gene regions, as well as four in previously identified regions.

Members of TECAC also were the first to identify CHEK2, a moderate penetrance gene for TGCT. Penetrance refers to the proportion of people with a mutation in specific gene. Unlike other solid tumor types (e.g. breast, ovarian), the inherited risk of TGCT is likely due to multiple variants rather than any single gene.

Our work has revealed critical roles for genetic variants and mutations in testicular germ cell tumors and defined the biology of TGCTs as associated with defects in maturation of male germ cells, but theres still much more to discover with this highly heritable disease, Dr. Nathanson said. This grant will allow us to continue to pool our resources and expertise to better understand its biology and etiology, as well as provide data that can help identify men at higher risk of the disease and in need of surveillance.

The latest round of funding will focus on three initiatives: to identify rare and common variants using whole exome genetic sequencing from biosamples of more than 2,000 men; to conduct a transcriptome-wide association study, or TWAS, to identify novel candidate susceptibility genes in nearly 250,000 men (the largest to date); and to further evaluate any variants or gene discovered from those two projects using tools, such as CRISPR, in cells.

Other Penn collaborators on this grant (R01 CA164947 A1) include David Vaughn, Linda Jacobs, Li-San Wang and Mingyao Li.

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$5.4 Million Grant for Penn Medicine Researchers to Find Genetic Drivers of Testicular Cancer - UPENN Almanac

Genetics

Rare Disease Genetic Testing Market Analysis, COVID-19 Impact,Outlook, Opportunities, Size, Share Forecast and Supply Demand 2021-2027|Trusted…

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

Trusted Business Insights presents an updated and Latest Study on Rare Disease Genetic Testing Market 2020-2029. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Rare Disease Genetic Testing market during the forecast period (2020-2029).It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

Get Sample Copy of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Report Overview: Rare Disease Genetic Testing Market

The global rare disease genetic testing market size was valued at USD 690.1 million in 2020 and is projected to register a Compound Annual Growth Rate (CAGR) of 8.8% from 2021 to 2027. Misdiagnosis can result in interventions that could later be considered inappropriate for the underlying disorder. Thus, the need for an accurate and timely diagnosis for rare conditions drives the demand for genetic testing. Currently, the lack of awareness pertaining to these conditions is one of the primary challenges for the market. Thus, several efforts are being undertaken to help raise awareness about various aspects of rare and ultra-rare diseases, such as the challenges pertaining to diagnosis and clinical implementation of available diagnostic approaches.

Companies like Shire Plc are engaged in supporting domestic diagnostic testing for rare disorders in certain countries and offer learning programs for healthcare experts on genetic testing. Every country has developed its registry for rare diseases that acts as a focal point of information on these conditions. Patient registries and databases play a integral role in clinical research in the field of rare diseases and help in improving healthcare planning and patient care.

A rise in the number of available registries is one of the major driving factors of the market as it enables pool data to achieve a sufficient sample size for epidemiological and/or clinical research. Furthermore, technological advancements in data collection and interpretation for clinical practice has driven the market. Companies are making efforts to ensure efficient data collection from various ethnicities, which is expected to aid in the diagnosis of thousands of patients with the same condition.

In addition, companies, such as Centogene, combine genetic testing with metabolomics and proteomics to make their data analysis process as accurate as possible. The multi-omics approach helps better understand the impact of a given mutation on the protein as well as at the metabolite level. The company has also introduced a system to simplify the sample collection process, thereby driving the adoption of genetic tests for rare disease diagnosis.

Disease Type Insights: Rare Disease Genetic Testing Market

Neurological disorders segment accounted for the largest share of 12.9% in 2019. A substantial number of commercially-approved genetic tests for neurologic conditions coupled with a high prevalence of neurological diseases has accelerated the revenue growth in this segment. Tests offered by companies are recommended by several medical institutes, such as the American Academy of Neurology, American College of Medical Genetics, and Child Neurology Society.

Furthermore, the advent of high-throughput techniques, such as exome sequencing and whole-genome sequencing, has offered lucrative opportunities for companies offering tests for diseases, such as X-ALD. Exome sequencing and whole-genome sequencing have helped in addressing complicated cases of X-ALD that present an atypical disease course.

Moreover, immunologic disorders, such as Multiple Sclerosis (MS), are among the most prevalent rare diseases. The genetic profile of MS is one of the key focus areas among researchers in this field. This is primarily to obtain relevant insights pertaining to the causes and underlying physiology of diseases, resulting in a significant share of this segment.

End-use Insights: Rare Disease Genetic Testing Market

Research laboratories & CROs captured the maximum share of 46.9% of the market in 2019. This is primarily because in a substantial number of cases, blood samples collected from patients are sent to a laboratory for testing. Laboratories offer testing based on various specialties, including molecular, chromosomal, and biochemical genetic tests. For instance, ARUP Laboratories offers testing in molecular genetics, cytogenetics, genomic microarray, and biochemical genetics.

Laboratories also offer genetic counseling services that further accelerate the uptake of services among patients. Moreover, molecular genetic testing-based laboratory testing is rapidly increasing worldwide. Genetic tests are conducted by multiple laboratories, including those that are accredited with CLIA for clinical cytogenetics, pathology, and chemistry, among other specialties. These companies are involved in expanding their test portfolio by undertaking various strategic initiatives.

For instance, in January 2020, Quest Diagnostics acquired Blueprint Genetics to enhance its expertise in genetic disorders and rare diseases. Furthermore, in June 2018, Centogene launched its diagnostic laboratory in Cambridge, Massachusetts. Such initiatives depict the growing interest of diagnostic centers in genetic testing of rare diseases, which is likely to boost segment growth.

Technology Insights: Rare Disease Genetic Testing Market

Next Generation Sequencing (NGS) accounted for the largest share of 36.6% in 2019 owing to the high usage of Whole Exome Sequencing (WES). WES is being considered a highly potential method in a case where the genetic cause of disease is unknown and is difficult to identify. WES is becoming the standard of care for patients with undiagnosed rare diseases. This is attributed to the fact that exons make up around 1.5% of an individuals genome and contain 85% of all known disease-causing mutations.

Moreover, with the declining costs of WES, the cost of genetic testing is also anticipated to reduce significantly, making the test more affordable and accessible. In addition, medical coverage for WES-based genetic tests has favored segment growth. A substantial number of private health insurance agencies cover all or part of the cost of genetic testing, post recommendation by a healthcare professional. As compared to WES, clinical Whole Genome Sequencing (WGS) has lesser demand.

However, with a continuous decrease in cost, adoption of WGS is expected to amplify. For instance, the Rady Childrens Institute for Genomic Medicine offers singleton-rapid WGS and a trio-rapid WGS at a reasonable cost. In February 2020, Dante Labs launched an initiative to offer WGS to patients with rare diseases for USD 299. The service included WGS 30X on Novaseq6000 technology, data interpretation, and personalized therapy on these diseases.

Specialty Insights: Rare Disease Genetic Testing Market

Accounting for more than 40% revenue share, molecular genetic tests led the market in 2019. Rapid technological advancements and expertise in handling & managing high throughput technologies within clinical settings have driven the revenue in this segment. Molecular genetic test methods enable investigating single genes or short lengths of DNA for the detection of mutations or variations leading to genetic disorders.

Apart from rare diseases, the method also covers testing of ultra-rare diseases, which will augment the segment growth in future. Biochemical genetic tests are expected to register the second-fastest CAGR during the forecast period owing to their efficiency to assess the activity and amount of proteins & related abnormalities for the identification of changes in the DNA that can cause a metabolic disorder.

Also, the companies are expanding their test portfolio to capitalize on the potential opportunities present in this segment. In September 2019, Blueprint Genetics collaborated with ARCHIMEDlife to launch high-quality biochemical tests for rare diseases. Such developments are anticipated to boost the revenue share of the segment in the coming years.

Regional Insights: Rare Disease Genetic Testing Market

North America accounted for the largest market share of over 47% in 2019. Factors, such as high incidence of rare disorders, a large number of rare disorders registries, and the presence of substantial numbers of R&D facilities for rare & ultra-rare diseases, and extensive investments in the diagnosis of rare disorders in the region drives the market growth. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. Moreover, the number of patients undergoing disease testing is expected to increase in the coming years, thereby supporting market growth.

Asia Pacific is expected to register the fastest CAGR from 2020 to 2027 due to rising awareness and target population in Asian countries. China is attempting to shift the attention of the healthcare system towards the diagnosis and treatment of rare disorders. The government in the country has included rare disease management as a public health priority in its 2030 roadmap titledHealthy China 2030. Furthermore, in June 2018, the country released its first list of rare disorders to enable the patients to find solutions effectively at their local hospitals.

Key Companies & Market Share Insights: Rare Disease Genetic Testing Market

The development of technologies, such as WES & WGS, has significantly transformed genetic testing space by offering convenient and cost-effective methods that can be conducted for a wide range of conditions across multiple clinical settings. As a result, major diagnostic companies are engaged in expanding their product portfolio that can be used to conduct tests for rare and ultra-rare conditions.

In addition, they have undertaken various initiatives, such as mergers & acquisitions, to expand their offerings and subsequently strengthen their presence in this market. For example, the acquisition of GeneDX by OPKO. The acquisition helped the latter company to expand its business in the market. Similarly, Quest strengthened its presence in the market with the acquisition of Blueprint Genetics. Another important acquisition in the market is Qiagens acquisition by Thermo Fisher.

The companies have signed an agreement in March 2020; however, it is targeted to be completed by the first quarter of 2021, as ThermoFisher Scientific is lining up finances for the USD 11.5 billion deal, with an offering worth $2.2 billion. This deal is expected to impact the life science tools and reagents market significantly. With regard to rare disorder genetic testing, Thermo Fisher Scientific is engaged in research and provides sequencing for the Osteogenesis imperfecta and Vascular Ehlers-Danlos syndrome. Some of the prominent players in the rare disease genetic testing market include:

Key companies Profiled: Rare Disease Genetic Testing Market Report

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub segments from 2016 to 2027. For the purpose of this study, Trusted Business Insights has segmented the global rare disease genetic testing market report on the basis of disease type, technology, specialty, end use, and region:

Disease Type Outlook (Revenue, USD Million, 2016 2027)

Technology Outlook (Revenue, USD Million, 2016 2027)

Specialty Outlook (Revenue, USD Million, 2016 2027)

End-use Outlook (Revenue, USD Million, 2016 2027)

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

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

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Rare Disease Genetic Testing Market Analysis, COVID-19 Impact,Outlook, Opportunities, Size, Share Forecast and Supply Demand 2021-2027|Trusted...

Embryology

UW Bothell Graduate Certificate Programs Make a Difference in the Lives of Women in Engineering – All Together – Society of Women Engineers

Jennifer Kolar had more than 20 years of engineering experience but wanted to enhance her skills; Kelsey Stemm was looking to make a career pivot from human embryology to software engineering. Jennifers desire to add to her toolset and Kelseys career change led them in the same direction: graduate certificates at the UW Bothell School of Science, Technology, Engineering & Mathematics.

The Graduate Certificate in Electrical Engineering Foundations provided Jennifer (GCEEF 20) with the updated industry knowledge to thrive at work.

My engineering background was pretty rusty, said Jennifer, the vice president of engineering at Monsoon Solutions, a printed circuit board design engineering services and consulting company in Bellevue. I wanted to refresh my knowledge, learn the tools, and get myself reacquainted with the more hands-on, technical side.

Kelsey (GCSDD 16) found the Graduate Certificate in Software Design & Development, which helped her jump-start her career shift to software engineering.

I chose UW Bothell because it was more than just a boot camp, Kelsey said. I had the support of a college and the coursework was more rigorous. It really hit me how important this program could be to make this transition. For me, it was the best possible way to learn the things I needed to learn.

As women in engineering and science, both Jennifer and Kelsey are used to encountering challenges.

Jennifer was one of five female engineering students in a class of 500 during her undergraduate studies in the 90s. She recalls a pregnant classmate who was told she didnt belong in school by an instructor and also remembers being refused office hours.

After entering the software engineering field, Kelsey dealt with the typical doubts and bouts of impostors syndrome that come with any career change. But after years in the health care field, where women are in the majority, she also struggled with her confidence when she was the only woman in the room.

Through the graduate certificate program and the Society of Women Engineers, Kelsey met a community of learners and mentors that she relies on and values years later.

Everyone was so supportive, Kelsey said.It didnt matter where you came from or what you were doing. Its been really great to have people who I can depend on, who I still know and talk to, to this day.

Jennifer also found a strong support system in the electrical engineering graduate certificate program. She credits classroom discussions and teamwork with classmates helped her build upon her knowledge. Since completing the program, Jennifer has expanded her role and is enjoying being much more hands-on with engineering design challenges.

It gave me a lot more confidence to be able to challenge or support the other engineers as well as our customers, she said. It also refreshed my foundational knowledge, so I could more easily answer my own questions and know what questions to ask. Im happy that I did it.

The graduate certificate helped Kelsey land an internship with Tango Card right out of school. That internship turned into a full-time job, and that experience helped Kelsey get hired at Microsoft, where shes been for two years.

I can say that UW Bothell is the reason I got the job 100 percent, Kelsey said. Between the networking and the rigor of the coursework, its an incredible program, and I dont think you can do much better.

Learn more about UW Bothells Graduate Certificate in Software Design & Development or Graduate Certificate in Electrical Engineering Foundations. Register for an information session or sign up for our email list on the program websites. You can also follow them on Facebook for the latest updates.

SWE Blog provides up-to-date information and news about the Society and how our members are making a difference every day. Youll find stories about SWE members, engineering, technology, and other STEM-related topics.

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Embryology

I Chose To Be A Solo Mum Aged 31 – GLAMOUR UK

Sitting across from my GP in his surgery in my small hometown of Cullompton in Devon, I asked him what my options were as a single, heterosexual 31-year-old woman wanting to become a mother on my own. He looked at me blankly and said, Ive never had anyone ask that before; Ill have to speak to the local fertility clinics and get back to you. That was two years ago, and last week I celebrated my son Phineas first birthday.

Im part of a growing number of women in the UK some even in their twenties who are becoming solo mothers by choice, mainly through the use of donor sperm. (Latest figures from the Human Fertilisation and Embryology Authority reveal that the number of treatment cycles where women use their own eggs with donor sperm went up by 50% between 2015 2018.) Like myself, for a lot of these women this is not a last resort or a back-up plan because weve left it too late, but a conscious and conscientious decision to take control of our fertility, not be hindered by our biological clock or settle for the wrong partner because weve run out of time. Were financially independent with a strong support network and enough love in our lives to ensure our children get the best possible start in life.

Ive always wanted to be a mum and by the time I was 24, I realised that I never saw myself with a partner I would want to have a baby with. Yes, it was quite young to think that, but I just hadnt met that person who I clicked with. I tried to date with little success, and I just kept coming back to the fact I was happy on my own.

I knew nothing about the process of becoming a solo mum. I was living in London at the time working as a nanny, and one day while on the tube, I saw an advert for the London Womens Clinic alongside information about the sperm donor clinics they use. It was then I realised I could do it on my own.

When I told people about my plans, it was seen by some as an unusual or unexpected. A few friends were worried about me being on my own, so for a while I did try to continue dating, but it was half-hearted. Sometimes I would feel guilty that my mum would not get to be part of my wedding, but the whole fairytale wedding was never something I wanted and I have always been fiercely independent. I also realised that if I took the time factor out and decided to have a child on my own at a younger age, I had the rest of my life to meet someone for the right reasons and not feel pressured into finding the father of my child.

Once I was sure of my decision, my closest friends and family were nothing but supportive. I was 28 by then and had saved all the necessary funds around 5,000 in total for tests, sperm and treatment. Before I went ahead I was chatting to my younger brother and he offered some advice that influenced my final decision. He advised that I wait until I was 30 and had my own home, so that people would be less likely to judge me about having plenty of time and would see I was serious. So, I moved back to Devon to be near my family, bought my first home, gave up my job in child care and started working in sales and marketing at my family freight forwarding business.

Then, shortly after I turned 31, I made that initial appointment with my GP. I wanted to enquire whether I could receive any NHS funding, because I know couples who are struggling to conceive are assisted, as are same-sex couples, but at present it is extremely rare to receive funding as a single woman on the NHS.

After a few tests with my GP and an initial consultation at the fertility clinic I was offered the choice of IUI or IVF and we agreed IUI was the way for me because I was young I didnt have any fertility issues.

I bought two straws of sperm from the European Sperm and I found choosing my donor much like using a dating website, and while I was never really enthusiastic about the likes of Tinder, I found this really exciting. You get a lot of information on the donor; their favourite food, hobby, education history and even a recording of their voice and a written letter for any future child conceived. I knew I wanted to prioritise the child resembling me. I was also keen to know the donors genetic history and had access to their family information; careers, medical history and what their relatives died from and at what age. I was extremely lucky and conceived first time.

Sometimes I feel a little sad that I am raising Phineas without a father, especially as my own dad, who died when I was 23, was amazing and very involved. But theres no guarantee that the person you have a child with will be a great father. I think it is more important that you have multiple people in your life to help you and I have a very loving family my mum lives 10 minutes down the road and I also have relatives nearby. The hardest thing about being a solo parent is the financial aspect. However, I think that the cost of conceiving using a donor means women who go into it alone often put a lot more thought into having a baby and the financial implications, not just with conception, but also with the childs future and childcare. Today we live in a world with so many more options and I believe its important to make the most of them to ensure you lead a happy and fulfilling life and that is what I have with my son; he is the biggest gift and I couldnt imagine my life without him.

As told to Emily Maddick

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I Chose To Be A Solo Mum Aged 31 - GLAMOUR UK

Embryology

Assisted Reproductive Technology Market 2020 Growth Opportunities and Growth Rate With COVID-19 Impact Study – The Cloud Tribune

Reproduction segment is currently blooming. The major factor responsible for its growth are improved access to fertility clinics and fertilization technologyadvancements. Different organizations have come forward to encourage people to avail reproductive assistance services. Angels of Hope Foundation, BabyQuest Foundation and Pay-it-Forward Foundation are some of the organizations in US that offer grants to make fertility treatment affordable as it is cost-intensive which discourages the general public. Reproductive outcomes from such services have been positive. This increases the adoption rate of assistive reproductive technologies like IVF and IUI. Technologies have significantly increased the number of treatments that are available for infertility.

Modern lifestyle induces productivity issues

In many economies across the globe, same sex marriages are made legal. Such marriages are eyed as prominent revenue source for the global assistive reproductive technology market. Latest Fact.MR report forecasts that the revenue of assistive reproductive technology will increase by 6.3% by the end of 2020.

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Modern lifestyle has induced stress in people. This adversely effects the reproductive capacity in men and women, compelling them to divert towards assistive reproductive technologies. Centers for Disease Control and Prevention (CDC) give the data that 82% ART cycle induced pregnancies are based on use of fresh non-donor eggs. The major factor driving this rate is the desire to have a child with eggs form one person. Fresh non-donor eggs are trending as the medium for using assistive technology. It is primarily used by women below the age of 35. Major factors like late family planning and increase in prevalence of chronic diseases such as cancer cause infertility issues. Medical freezing is getting recommended by medical professionals for women to reduce the risks of infertility.

Employers offer perks and incentives to employees

Major employers are addressing infertility issues in their employees. They have come up with perks and incentives to encourage employees to store eggs so that they do not undergo infertility issues in future. These factors are expected to surge the demand for frozen non-donor procedures. Assistive reproductive technology is used to treat infertility using many treatment cycles, which makes the treatment very expensive. Fertility clinics have identified the scope of opportunities in treatment of productivity issues. They have introduced one stop solutions that include diagnostic as well as the treatment. Major stake holders are investing towards development of embryology labs that are used to ensure safe and efficient gamete handling. Medical professionals are preferring fertility clinics of treatment as these spaces offer quality service and are laced with advanced technologies. Fact.MR report predicts that fertility clinics can generate US$16.8Bn revenue by the end of the year 2020.

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Different attitude is adopted towards assisted reproductive technology in different regions. This happens because such technologies get different implementation in terms of reimbursement facilities, patient outcomes and cost in different regions. Fact.MR report highlights the fact the 53% of the Netherlands population ops for quality reproductive treatments and chooses to even go abroad for it. Cross-border reproductive care is highly popular in European countries.

About Fact.MR

Fact.MR is a fast-growing market research firm that offers the most comprehensive suite of syndicated and customized market research reports. We believe transformative intelligence can educate and inspire businesses to make smarter decisions. We know the limitations of the one-size-fits-all approach; thats why we publish multi-industry global, regional, and country-specific research reports.

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Assisted Reproductive Technology Market 2020 Growth Opportunities and Growth Rate With COVID-19 Impact Study - The Cloud Tribune

Embryology

Sperm donation: terms and conditions apply – BioNews

9 November 2020

A few weeks ago, it was reported that a sperm donor had sued CARE fertility after discovering that his sperm had been used in the treatment of same-sex couples, even though he had specified in advance that he did not want this to happen (see BioNews 1066). Following a 'four-year legal battle', CARE apparently settled his case for a 'five-figure sum'.

Whether or not a donor should be able to place conditions upon the use of their gametes is a complicated question. Some instances of conditional gamete donation are widely accepted. For example, known donation is generally conditional upon the donor's gametes being used in the treatment of one named individual, and not for the treatment of anyone else.

We would not normally think that there is anything wrong in specifying that you are willing to help a lesbian friend conceive, but that you do not wish to become a sperm donor for multiple unknown recipients. When potential sperm donors use 'introduction' websites in order to make contact with potential recipients, they can choose who does and who does not have the opportunity to conceive with their sperm.

Is positively choosing to donate to a particular person different from choosing not to donate to other people because of their particular and protected characteristics. Many people will think that there is a difference, but why?

When we choose to donate to a friend or relative, we are not discriminating against someone else on the basis of their characteristics, we are just offering to help someone we care about. Even though a person's prejudices may inform their choice of friends, most of us are comfortable with giving preferential treatment to friends and relatives because we do this all the time.

When we choose to donate to strangers, a preference for one type of stranger over another will generally be grounded in discriminatory assumptions, which are therefore more visible than the discriminatory preferences which may underpin someone's choice of friends. As a result, there is a widespread belief that the donation of bodily material to strangers should be a freely given gift, which is not contingent upon the recipient conforming to the donor's specifications.

For example, there was an infamous organ donation case 22 years ago in which the deceased's family agreed to the donation of his organs, but only if they went to white recipients. The organs were accepted, on the grounds that the people who would have received his organs in the absence of this condition (one of whom was likely to die within 24 hours without a transplant) happened to be white, so the condition made no difference in practice. But following an investigation, the Department of Health concluded that the organs should not have been accepted, and that in the future, organs should be refused if families seek to place conditions upon their use.

This absolute rejection of conditional cadaveric donation was modified ten years later when a different sort of case emerged, in which a woman died suddenly, shortly after expressing an interest in becoming a living kidney donor for her mother. She was on the organ donor register, and because no conditions could be placed on her organs' use, her kidneys were donated to strangers rather than to her mother. Following this case, 'requested allocation' became possible, where the deceased wished to donate to a specific relative or friend, provided that there is no one on the waiting list in desperately urgent clinical need for the organ.

It is interesting that the rejection of conditional cadaveric donation unless it is to a relative or friend co-exists not just with the acceptance of conditional living donation, but with the reality that most living donation is conditional. Most living kidney donors are willing to donate their kidney only to a specific relative or friend with kidney failure. Non-directed living donation is possible but unusual, and extra safeguards are in place in order to ensure that no money has changed hands in exchange for the donation.

Of course, gamete donation is different from cadaveric organ donation, not least because in the case of the racist condition, there was an identifiable person who would have died if the organs had been rejected. Refusing to accept gametes with discriminatory conditions attached to them may lead to less choice for recipients, or to delays in their treatment, but it will not result in their immediate death.

Under the Equality Act 2010, healthcare providers must not discriminate against patients on the grounds of their protected characteristics, and the Code of Practice from the Human Fertilisation and Embryology Authority spells out that 'patients should not be discriminated against on grounds of gender, race, disability, sexual orientation, religious belief or age'.

This is normally assumed to apply to clinics making decisions to offer, or not offer treatment services, rather than to donors. But if, as a result of accepting gametes with discriminatory conditions, same-sex couples were offered a worse standard of care than other patients, this could amount to discrimination. Certainly, in order to avoid being sued by another angry conditional donor, clinics would be well advised to refuse to accept gametes where the donor wants to specify in advance the sexual orientation of potential recipients.

It is, however, worth acknowledging that potential donors who wish to impose discriminatory conditions upon the use of their sperm will be able to do so if they opt to become an informal donor, who 'meets' potential recipients on an introduction website, and who has no obligation to donate to anyone who expresses an interest in receiving their sperm. Is this yet another implication of the mixed economy of sperm donation, where strictly regulated donation in licensed clinics co-exists with almost completely unregulated informal donation?

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Sperm donation: terms and conditions apply - BioNews

Anatomy

Anatomy of a Goal: Zelarayan and the Crew slice through Atlanta with 23 passes – Massive Report

Welcome back to the Anatomy of a Goal, where each week we dissect one goal (or near goal) from the Columbus Crews previous match.

For match 23, the final match of the 2020 MLS regular season, we take a look at Lucas Zelarayans 28th minute goal that gave the Crew a 1-0 lead as part of their 2-1 win against Atlanta United on Decision Day.

Heres a look at the goal from Columbuss No. 10.

The Black & Gold followed up last Sundays gritty win against the Philadelphia Union with a disappointing loss at 10-man Orlando City on Wednesday. Entering their Decision Day match against Atlanta, the Crew needed a win to guarantee a home playoff game.

Sundays match started off brightly before Columbus started to cede possession to the Five Stripes. The half hit its nadir when Eloy Room took down Jon Gallagher in the penalty box for a United penalty. Fortunately, referee Ismail Elfath jogged over to the VAR monitor and overturned his own penalty call, bailing out the Black & Gold.

Zelarayans opening goal, one of the most comprehensive team goals by the Crew this season, comes on the heels of the overturned penalty. This 23-pass goal begins with Room playing the ball to Josh Williams.

Williams turns up the field and quickly finds Artur.

Artur drops the ball right back to Williams as Atlanta brings pressure. Milton Valenzuela makes a run up the left side of the field forcing Jurgen Damm to decide between pressuring Williams and marking the Columbus left back.

Damm checks to Valenzuela, giving Williams additional time to survey his options.

Williams decides to reset and drops the ball all the way to Room.

Room switches the point of attack to the right side of the field with a pass out to Jonathan Mensah.

Marcelino Moreno cuts toward Mensah to provide pressure. Artur sees this move and opens himself up to a pass around Moreno. Ezequiel Barco has dropped toward the midfield, opening space for Arturs run.

Mensah spots Arturs move and plays a quick pass around Moreno toward his teammate. Jef Larentowicz sprints toward the Black & Golds midfielder in an attempt to quickly win the ball off of him.

Larentowiczs defensive move frees up Zelarayan who drifts toward Artur. Artur keeps his head on a swivel and is able to see both Larentowiczs impending pressure and Zelarayan stepping into the space vacated by Atlantas captain. Artur lets the ball roll in front of him and hits a perfect first touch pass toward his No. 10.

Zelarayan takes a touch toward midfield and has four options. He can play a pass up the sideline to Derrick Etienne, play a pass forward to Pedro Santos, attempt to beat Emerson Hyndman off the dribble or hit a square pass to Darlington Nagbe who is running forward just behind Zelarayan.

The Crews No. 10 takes a touch and quickly plays a pass over to Nagbe.

Nagbe carries the ball into the Five Stripes territory as Hyndman brings pressure.

Nagbe spots Valenzuela and plays a ball out to the young Argentine on the left sideline.

Valenzuela takes one touch and plays a pass up the sideline into the path of Santos.

Santos picks the ball up under pressure from Damm and Franco Escobar. The Columbus winger must now decide whether to continue to carry the ball toward the corner or to somehow play a quick pass to Valenzuela, who has continued his run toward the goal.

Santos chooses the more difficult option and back-heels a pass back into the path of Valenzuela.

The back-heel beats both Escobar and Damm as it heads toward the Black & Golds left back.

Valenzuela uses his fist touch to keep the ball away from Hyndman and plays a quick drop to Nagbe.

Nagbe gathers the ball and hits a long pass on the ground back to Artur.

Artur surveys his options but does not find anything promising toward the Atlanta goal. He turns the ball back toward midfield.

The Brazilian midfielder plays a safe drop back to his captain.

Mensah takes one touch to collect the ball and plays a quick pass up the sideline to Harrison Afful.

Barco blocks Affuls pass forward until Artur is able to move into an open space for a quick, safe pass.

Artur carries the ball out of danger before dropping it all the way back to Mensah.

Moreno cuts toward Mensah while Gallagher blocks a pass toward Williams. Artur shuffles into the space between the two Atlanta defenders and opens himself up to a simple pass from Mensah.

Artur turns toward the midfield under consistent pressure from Moreno. Williams steps forward and his teammate hits a square pass his way.

Williams easily picks up the ball and lets a heavy touch send it forward. The Columbus center back does something here that hes done multiple times this season with the defense compacted centrally or shifted to the right side, he carries the ball until the opposing defense provides pressure. By doing this, Williams both moves the ball forward and forces a Five Stripes defender to put pressure on him instead of one of the Black & Gold attackers.

This simple act of carrying the ball forward is what sets Williams apart from his center back teammates. While Mensah might be the better passer or on-ball defender, Williams confidence in carrying the ball forward has been immensely valuable to the Crew and has been a feature of these breakdowns multiple times this season.

Hyndman steps up to defend leaving Williams with four options. The defender can play a pass forward to Gyasi Zardes, attempt to beat Hyndman off the dribble, play a pass up the sideline to Santos or a drop pass to Artur.

Williams opts for the safe pass up the left flank to Santos.

Escobar steps out to cover Santos, leaving the winger with three options. He can play a pass up the sideline to Valenzuela, hit a pass over Escobar to Zardes or attempt to beat Escobar off the dribble.

Santos lobs a pass over Escobar toward Zardes.

Zardes bodies up Miles Robinson and deftly settles the ball into the path of Valenzuela who has made a run behind Damm.

Valenzuela picks up the ball and carries it toward Fernando Meza. This forces Meza to stop for a moment, allowing Zelarayan to drift free toward the middle of the goal box.

Valenzuela spots Zelarayan and hits a quick pass to the No. 10.

Zelarayan reaches out for the ball and uses his first touch to set off a move between Meza and George Bello toward the Atlanta goal.

Zelarayans touch slips him between the two defenders setting him loose on Brad Guzan.

With only Guzan left to beat, Zelarayan only has to decide where to place his shot.

Guzan goes to ground and Zelarayan chips the ball over the Five Stripes keeper . . .

. . . and into the back of the net!

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Anatomy of a Goal: Zelarayan and the Crew slice through Atlanta with 23 passes - Massive Report