Category Archives: Genetics

Genetics

Flaws emerge in modeling human genetic diseases in animals – The Conversation US

My lab, based at the University of Southern California Keck School of Medicine, uses zebrafish to model human birth defects affecting the face. When I tell people this, they are often skeptical that fish biology has any relevance to human health.

But zebrafish have backbones like us, contain by and large the same types of organs, and, critically for genetic research, share many genes in common. My group has exploited these genetic similarities to create zebrafish models for several human birth defects, including Saethre-Chotzen Syndrome, in which the bones of the skull abnormally fuse together, and early-onset arthritis.

Similar to fish, our bodies develop under the control of about 25,000 genes. The trick is finding out what each gene does. Stunning advances such as CRISPR-based molecular scissors, for which the Nobel Prize in chemistry was just awarded, allow us to precisely change genes, and designer chemicals can silence particular genes. In a recent study from our group published in Nature, however, we find that these tools are still far from perfect. Although CRISPR now allows us to efficiently generate lab animals that can pass human disease mutations onto the next generation, claims that simply injecting CRISPR into embryos or silencing genes with designer chemicals can accurately model human genetic disease are being questioned.

Finding the precise mutation that causes a particular birth defect or a late-onset disease can be tedious work. The human genome is made up of 3 billion building blocks called DNA nucleotides, and changing just one of these can cause devastating birth defects.

To figure out if we have identified the right disease-causing mutation in humans, we typically engineer the same change into the genome of a lab animal. We then breed these animals to generate babies with the disease mutation and look for the appearance of defects similar to those in human patients.

We study zebrafish because they are small, which means we can grow thousands of different genetically modified animals. We routinely use CRISPR to engineer fish that pass on a gene-breaking mutation to the next generation.

We then study the appearance of defects similar to those in humans lacking these genes in essence creating personalized zebrafish avatars of genetic disease. As zebrafish embryos are transparent and develop rapidly outside the mother, they are particularly useful for understanding how human disease mutations disrupt normal development.

Even in zebrafish, engineering animals to lack particular genes can be a time-consuming process. In my lab, we first create gene mutations in embryos, grow these fish to adulthood and then breed fish together to look at defects in the next generation.

This whole process can take a year or longer. Unsurprisingly, many labs are attempting shortcuts. Some are injecting large quantities of CRISPR molecular scissors into animals and then looking for defects in these same animals. Others are using chemicals to turn off, or silence, genes in the embryo rather than permanently changing the genes.

More and more frequently studies like this are calling into question the accuracy of these shortcuts. In animals that have been injected with CRISPR molecular scissors, not every cell is changed in the same way. And the chemicals used to silence genes appear to have unintended consequences, poisoning the embryo in a generic way.

For example, researchers in Spain recently reported that a gene called prrx1a was critical for the proper development of the heart. To figure this out, they silenced prrx1a in zebrafish with chemicals. Then, in a second experiment, they injected CRISPR molecular scissors into zebrafish embryos and examined them just one day later for heart defects.

In contrast, we completely removed the prrx1a gene and looked at generations of fish lacking this gene. Hearts in these mutant fish developed perfectly normally, showing that prrx1a was not critical for heart development. Instead, we showed that the heart defects seen upon chemical treatment in the Spanish study were due to a general poisoning of the embryos unrelated to the prrx1a gene. Animals simply injected with CRISPR also showed defects not seen upon complete removal of the prrx1a gene, although the exact reasons for these differences remain a source of active debate.

And not just our group has noticed these flaws. Using similar gene removal as we reported, the group led by Didier Stainier refuted a study that had used CRISPR injection and gene silencing to link the tek gene to blood vessel development. Given the number of studies relying on gene silencing in lab animals, as opposed to engineering the DNA mutations, the causative genes for many human diseases may need to be reevaluated.

The desire for speed in research must not come at a cost of accuracy and reproducibility.

The good news is that, with the ease of CRISPR, we now know how to engineer the right types of mutations in lab animals to validate human disease mutations. By creating lab animals such as zebrafish that have the mutations engineered into their genomes and then observing whether their offspring develop the same diseases as patients with the mutations, we can be confident in having identified the right human disease gene.

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Getting it right is important for accurately counseling prospective parents of their genetic risks for certain birth defects, as well as identifying the relevant genes that can be targeted to prevent or even reverse disease.

Science is constantly evolving. While the ability to engineer the genome with CRISPR is opening up endless possibilities for human genetics, researchers must also recognize the limitations of new technologies. Although rapid, directly injecting CRISPR or silencing genes with chemicals gives misleading results too often. In order to confidently identify causative mutations linked to human disease, we will need to continue to study lab animals engineered to carry and pass on the same DNA changes as found in human patients.

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Flaws emerge in modeling human genetic diseases in animals - The Conversation US

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).

SOURCE Precision Genetics

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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

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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)

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Genetics

How genetics can help predict risks of cancer recurrence and improve treatment – Euronews

A biobank is a storage facility for biological samples including blood, human tissue and/or DNA. They can then be used at any time for future medical research or pioneering methods.

The Managing Director of Estonian Biobank, Andres Metspalu, gives us some insight:

"I started the Estonian Biobank about 20 years ago. Our biobank is pretty large for a small country. We have around 20% of the entire Estonian population over the age of 18 included in our biobank; which equates to more than 200,000 individuals.

"They have all been analysed genetically, which is really remarkable. That is why we can do this genetic medicine not only for cancer, but also for other diseases.

"More than 3,000 people have already received their genetic risk (result) from the biobank.

"This is what keeps me busy every day, doing research and also facilitating the use of this information in healthcare".

"We are mainly talking about (predicting the risks of developing diseases like) cancer, cardiovascular diseases and type-2 diabetes. We also study melanoma, prostate cancer and lung cancer.

"We are also doing pharmacogenomics, drug response (how our bodies respond to drug intake).

"Not all drugs work on everyone as (pharmaceutical) companies believe or expect. Some drugs (can be) pretty harmful. You (can) get reactions and you (can) get side effects. You may end up in hospital after taking prescription drugs.

"Genetics can predict some serious events. It (genetics) should be used. This is what we are trying to introduce into everyday medical practice in Estonia".

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How genetics can help predict risks of cancer recurrence and improve treatment - Euronews

Genetics

Rare Disease Genetic Testing Market To Account To Grow At A CAGR Of 8.30% In The Forecast Period Of 2020 To 2027 | Leading Players- Quest Diagnostics,…

The universal Rare Disease Genetic Testing Market report conveys in-depth market study and future prospects of the Rare Disease Genetic Testing industry. Furthermore, the market report gives all the CAGR projections of the historic year 2018, base year 2019, and estimate time of 2020 2027. The market study and analysis of this report also lends a hand to figure out types of consumers, their views about the product, their buying intentions and their ideas for advancement of a product. This credible Rare Disease Genetic Testing Market report has been prepared with the thorough market analysis carried out by a team of industry experts, dynamic analysts, skilful forecasters and well-informed researchers.

Summary of the Report

Rare disease genetic testing market is expected to gain market growth in the forecast period of 2020 to 2027. Data Bridge Market Research analyses the market to account to grow at a CAGR of 8.30% in the above-mentioned forecast period. The increase in the facilities for patients affected by rare diseases has been directly impacting the growth of rare disease genetic testing market.

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Major Key Players of the Rare Disease Genetic Testing Market

Quest Diagnostics, Inc., Centogene N.V., Eurofins Scientific, Strand Life Sciences, Ambry Genetics, PerkinElmer, Inc., Macrogen, Inc., Baylor Genetics, Color, Health Network Laboratories, L.P., Preventiongenetics, Progenity, Inc., Invitae Corporation, 3billion, Inc., Arup Laboratories, Coopersurgical, Inc., Fulgent Genetics, Myriad Genetics, Inc., Laboratory Corporation Of America Holdings and Opko Health, Inc., among other domestic and global players.

GlobalRare Disease Genetic TestingMarket Scope and Market Size

Rare disease genetic testing market is segmented on the basis of disease type, technology, specialty and end use. The growth amongst these segments will help you analyze meager growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.

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Geographical Coverage of Rare Disease Genetic Testing Market

Key insights from COVID-19 impact analysis:

Table of Contents

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Rare Disease Genetic Testing Market To Account To Grow At A CAGR Of 8.30% In The Forecast Period Of 2020 To 2027 | Leading Players- Quest Diagnostics,...

Genetics

Increasing Government Investments and Favorable Policies to Aid the Growth of the Predictive Genetic Testing Market 2019 2029 – Eurowire

The global Predictive Genetic Testing market is forecasted to reach a market value of ~US$ XX Mn/Bn by the end of 2029 registering a CAGR growth of around XX% during the forecast period (2019-2029). The recent market report provides a detailed analysis of the current structure of the Predictive Genetic Testing market along with the estimated trajectory of the market over the course of the stipulated timeframe.

The report provides an in-depth assessment of the numerous factors that are anticipated to impact the market dynamics with utmost precision and accuracy. The SWOT and Porters Five Forces Analysis provides a clear picture about the current operations of the various market players operating in the global Predictive Genetic Testing market.

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Segmentation analysis

key players in the predictive genetic testing market. The significant competitive strength of the existing players in the evolving landscape of the global predictive genetic testing market is anticipated to offer new prospect in widening the application of the predictive genetic testing, substantially driving predictive genetic testing market growth. The key manufacturers of the predictive genetic testing are greatly concentrated on the technical edification of the end users to improve consumer outcomes. Furthermore, the adoptions of advanced predictive genetic testing services is expected to create lucrative growth opportunities for the service and third-party market competitors. Growing inclination toward trend in predict is prevention is estimated to offer growth opportunity for Predictive genetic testing market. Selection of treatment regimen with Predictive genetic testing is projected to aid capturing higher share in Predictive genetic testing market.

Geographically, global Predictive genetic testing market is segmented into seven key regions viz. North America, Latin America, Europe, South Asia, East Asia Oceania and Middle East & Africa. North America is prominent region in Predictive genetic testing Market. Advancement in genetic care facilities, higher adoption to lifestyle changes, increase awareness about genetic disease, increase in preventative care and favorable government policies have improved the regulatory scenario for predictive genetic testing devices in north America. Additionally in Asia pacific region considerably higher market growth rate is expected due to constantly rising population and higher incidence of genetic abnormality. Relatively affecting the Predictive genetic testing market.

Some of the major key players competing in the global Predictive genetic testing Market are Myriad Genetics, Inc., Abbott Laboratories, Illumina, Inc., Genesis GeneticsThermo Fisher Scientific, Inc., Bio-Rad Laboratories Inc., , Agilent Technologies, F. Hoffmann-La Roche Ltd., Counsyl, Inc., ARUP Laboratories. BGI among others.

The report covers exhaustive analysis on:

Regional analysis includes

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The report ponders over the market scenario in various geographies and highlights the major opportunities, trends, and challenges faced by market players in each region. An in-depth country wise analysis of each major region provides readers a deep understanding of the regional aspects of the market including, the market share, pricing analysis, revenue growth, and more.

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Increasing Government Investments and Favorable Policies to Aid the Growth of the Predictive Genetic Testing Market 2019 2029 - Eurowire

Genetics

Scientists think about 40% of happiness is genetic while the rest comes down to 3 main components – Insider – INSIDER

Some people seem to be born with a happier, carefree disposition than others, and research indicates that yes some of your sense of well-being may be in your genes. But only partly.

Your genes make up an estimated 40% of your ability to be happy, says psychotherapist Susan Zinn of Susan Zinn Therapy in Santa Monica, California.

But that doesn't mean that if you weren't born with certain genes, you're destined to be unhappy. Zinn says that "it's completely possible to rewire our brains for happiness," because the other 60% of happiness comes down to lifestyle and other environmental factors.

Learn more about how your genetic makeup contributes to your life satisfaction and how you can increase feelings of happiness and well-being regardless of what your genetic sequence might say about you.

Happiness is typically determined by three main components, according to Zinn:

Research indicates that we can inherit many traits including optimism, self-esteem, and happiness. So by that logic, yes, there are genes that may predispose you to a happier disposition.

For example, a 2011 study found promising evidence that people with a certain form of the gene called 5-HTTLPR reported higher life satisfaction.

And a landmark study in 2016 that formally linked happiness to genetics involved the DNA of nearly 300,000 people. The researchers pinpointed three specific genetic variants associated with well-being. But they also found that these genetic variations weren't the only factor. An interplay of genetics and environment also contributed to happiness.

Despite your genetic makeup, there are ways you can learn to be happier, even in difficult times. Other traits, such as resilience, can be cultivated over time.

"You have a choice," Zinn says. "It's no different than deciding what to wear or what food to order. When it comes to happiness, there's a lot we can do about it."

One way to achieve a happier state is to let go of a quest for perfectionism that focuses only on the end goal of success, Zinn says. Linking happiness with perfectionism and success is common in American culture, but it leads you to concentrate on the summit of what you want to achieve rather than the journey of what happens along the way.

Here are some other practical ways to choose happiness:

Although research suggests that happiness is inherited to some extent, you're not limited by your DNA. The ability to feel happy takes practice and can be achieved with the right mindset.

Volunteering, exercise, nature, and attention to gratitude practices are just a few things you can do to increase your sense of life satisfaction, well-being, purpose, and ultimately, happiness.

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Scientists think about 40% of happiness is genetic while the rest comes down to 3 main components - Insider - INSIDER