New findings of breast cancer gene mutations in women who have no family history of the disease offer a new way of estimating risk and may change the way in which these women are advised on risk management.

The findings come from two large studies, both published on January 20 in The New England Journal of Medicine.

The two articles are "extraordinary" for broadening and validating the genomic panel to help screen women at risk for breast cancer in the future, commented Eric Topol, MD, professor of molecular medicine, Scripps Research, La Jolla, California, and Medscape editor-in-chief.

"Traditionally, genetic testing of inherited breast cancer genes has focused on women at high risk who have a strong family history of breast cancer or those who were diagnosed at an early age, such as under 45 years," commented the lead investigator of one of studies, Fergus Couch, PhD, pathologist at the Mayo Clinic, Rochester, Minnesota.

"[Although] the risk of developing breast cancer is generally lower for women without a family history of the disease...when we looked at all women, we found that 30% of breast cancer mutations occurred in women who are not high-risk," he said.

In both studies, mutations or variants in eight genes BRCA1, BRCA2, PALB2, BARD1, RAD51C, RAD51D, ATM, and CHEK2 were found to be significantly associated with breast cancer risk.

However, the distribution of mutations among women with breast cancer differed from the distribution among unaffected women, notes Steven Narod, MD, from the Women's College Research Institute, Toronto, Ontario, Canada, in an accompanying editorial.

"What this means to clinicians, now that we are expanding the use of gene-panel testing to include unaffected women with a moderate risk of breast cancer in the family history, is that our time will increasingly be spent counseling women with CHEK2 and ATM mutations," he writes. Currently these two are "clumped in with 'other genes'.... [M]ost of the pretest discussion is currently focused on the implications of finding a BRCA1 or BRCA2 mutation."

The new findings may lead to new risk management strategies, he suggests. "Most breast cancers that occur in women with a mutation in ATM or CHEK2 are estrogen receptor positive, so these women may be candidates for anti-estrogen therapies such as tamoxifen, raloxifene, or aromatase inhibitors," he writes.

Narod observes that for now, the management of most women with either mutation will consist of screening alone, starting with MRI at age 40 years.

The medical community is not ready yet to expand genetic screening to the general population, cautions Walton Taylor, MD, past president of the American Society of Breast Surgeons (ASBrS).

The ASBrS currently recommends that all patients with breast cancer as well as those at high risk for breast cancer be offered genetic testing. "All women at risk should be tested, and all patients with pathogenic variants need to be managed appropriately it saves lives," Taylor emphasized.

However, "unaffected people with no family history do not need genetic testing at this time," he told Medscape Medical News.

As to what physicians might do to better manage patients with mutations that predispose to breast cancer, Taylor said, "It's surprisingly easy."

Every genetic testing company provides genetic counselors to guide patients through next steps, Taylor pointed out, and most cancer patients have nurse navigators who make sure patients get tested and followed appropriately.

Members of the ASBrS follow the National Comprehensive Cancer Network guidelines when they identify carriers of a pathogenic variant. Taylor says these are very useful guidelines for virtually all mutations identified thus far.

"This research is not necessarily new, but it is confirmatory for what we are doing, and that helps us make sure we are going down the right pathway," Taylor said. "It confirms that what we think is right is right and that matters," he reaffirmed.

The study led by Mayo's Couch was carried out by the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. It involved analyzing data from 17 epidemiology studies that focused on women in the general population who develop breast cancer. For the studies, which were conducted in the United States, pathogenic variants in 28 cancer-predisposition genes were sequenced from 32,247 women with breast cancer (case patients) and 32,544 unaffected women (control persons).

In the overall CARRIERS analysis, the prevalence of pathogenic variants in 12 clinically actionable genes was 5.03% among case patients and 1.63% among control persons. The prevalence was similar in non-Hispanic White women, non-Hispanic Black women, and Hispanic case patients, as well as control persons, they add. The prevalence of pathogenic variants among Asian American case patients was lower, at only 1.64%, they note.

Among patients who had breast cancer, the most common pathogenic variants included BRCA2, which occurred in 1.29% of case patients, followed by CHEK2, at a prevalence of 1.08%, and BRCA1, at a prevalence of 0.85%.

Mutations in BRCA1 increased the risk for breast cancer more than 7.5-fold; mutations in BRCA2 increased that risk more than fivefold, the investigators state.

Mutations in PALB2 increased the risk of breast cancer approximately fourfold, they add.

Prevalence rates for both BRCA1 and BRCA2 among breast cancer patients declined rapidly after the age of 40. The decline in other variants, including ATM, CHEK2, and PALB2, was limited with increasing age.

Indeed, mutations in all five of these genes were associated with a lifetime absolute risk for breast cancer greater than 20% by the age of 85 among non-Hispanic Whites.

Pathogenic variants in BRCA1 or BRCA2 yielded a lifetime risk for breast cancer of approximately 50%. Mutations in PALB2 yielded a lifetime breast cancer risk of approximately 32%.

The risk of having a mutation in specific genes varied depending on the type of breast cancer. For example, mutations in BARD1, RAD51C, and RAD51d increased the risk for estrogen receptor (ER)negative breast cancer as well as triple-negative breast cancer, the authors note, whereas mutations in ATM, CDH1, and CHEK2 increased the risk for ER-positive breast cancer.

"These refined estimates of the prevalences of pathogenic variants among women with breast cancer in the overall population, as opposed to selected high-risk patients, may inform ongoing discussions regarding testing in patients with breast cancer," the BCAC authors observe.

"The risks of breast cancer associated with pathogenic variants in the genes evaluated in the population-based CARRIERS analysis also provide important information for risk assessment and counselling of women with breast cancer who do not meet high-risk selection criteria," they suggest.

The second study was conducted by the Breast Cancer Association Consortium (BCAC) under lead author Leila Dorling, PhD, University of Cambridge, United Kingdom. This group sequenced 34 susceptibility genes from 60,466 women with breast cancer and 53,461 unaffected control persons.

"Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2 and PALB2) were associated with a significant risk of breast cancer overall (P < .0001)," the BCAC members report. "For these genes, odds ratios ranged from 2.10 to 10.57," they add.

The association between overall breast cancer risk and mutations in seven other genes was more modest, conferring approximately twice the risk for breast cancer overall, although that risk was threefold higher for the TP53 mutation.

For the 12 genes the consortium singled out as being associated with either a significant or a more modest risk for breast cancer, the effect size did not vary significantly between European and Asian women, the authors note. Again, the risk forER-positive breast cancer was over two times greater for those who had either the ATM or the CHEK2 mutation. Having mutations in BARD1, BRCA1, BRCA1, PALB2, RAD51C, and RAD51D conferred a higher risk for ER-negative disease than for ER-positive disease.

There was also an association between rare missense variants in six genes CHEK2, ATM, TP53, BRCA1, CDH1, and RECQL and overall breast cancer risk, with the clearest evidence being for CHEK2.

"The absolute risk estimates place protein-truncating variants in BRCA1, BRCA2, and PALB2 in the high-risk category and place protein-truncating variants in ATM, BARD1, CHEK2, RAD51CC, and RAD51D in the moderate-risk category," Dorling and colleagues reaffirm.

"These results may guide screening as well as prevention with risk-reducing surgery or medication, in accordance with national guidelines," the authors suggest.

The CARRIERS study was supported by the National Institutes of Health. The study by Dorling and colleagues was supported by the European Union Horizon 2020 research and innovation programs, among others. Narod has disclosed no relevant financial relationships.

New Eng J Med. Published online January 20, 2021. Couch et al, Abstract; BCAC study, Full text; Editorial

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Breast Cancer Gene Mutations Found in 30% of All Women - Medscape

Access to industry-leading genomic database and real-world evidence designed to optimize trial design, site selection, clinical trial matching and translational research

BOSTON, MA, DURHAM, NC and FT. MYERS, FL / ACCESSWIRE / February 4, 2021 / Parexel, a leading provider of solutions to accelerate the development and delivery of innovative therapies to improve world health, from clinical through commercialization, and NeoGenomics, Inc. (Acquired By American Communications Enterprises,Inc.(NASDAQ:NEO), a leading provider of cancer-focused genetic testing services and global oncology contract research services, today announced a strategic partnership to advance the application of precision medicine in oncology clinical trials by applying real-world genomics data to accelerate patient matching and optimize trial design, site selection, clinical development and translational research.

The collaboration with NeoGenomics will enhance Parexel's use of real-world data across various applications, including identifying and estimating prevalence of genomic mutations within respective populations, genomic patterning to stratify patients according to novel biomarkers, and use of de-identified patient data to precisely target patient populations. Collectively these data are designed to better inform clinical trial feasibility, enhance patient matching and create a holistic view of the patient journey by linking genomic data with clinical and consumer datasets. The collaboration will ultimately enable researchers to quickly enroll patients with common to rare cancer mutations and connect them to clinical trials providing the best likelihood of potential treatment success.

"Parexel's partnership with NeoGenomics provides access to greater predictive modeling capabilities so that we can rapidly identify specific patients and connect them to clinical trials that provide them with the best potential for treatment, advance our understanding of their disease and identify the drug's effects and potential benefits," said Sy Pretorius, MD, President, Clinical Development and Chief Medical Officer at Parexel. "This collaboration supports our efforts to adopt more novel approaches in the identification of data populations for oncology studies while keeping the patient at the center of everything we do."

"We are thrilled to collaborate with Parexel to provide our robust genomic and clinical database to help match cancer patients to clinical trials and therapies that are precisely targeted to their unique tumor types and genomic biomarkers," said Douglas VanOort, NeoGenomics' Chairman and Chief Executive Officer. "We look forward to our strategic partnership and future opportunities to broaden our relationship based on customer needs in the oncology space."

The strategic partnership between Parexel and NeoGenomics will enable biopharmaceutical customers to make evidence-based decisions regarding trial designs, companion diagnostics and drug repurposing as well as to build external control arms using genomic data, ultimately providing cancer patients access to the most effective therapies when and where they need them. The companies are considering potential opportunities to expand the scope of the partnership, including lab services and biomarker capabilities.

About ParexelParexel supports the development of innovative new medicines to improve the health of patients. We provide services to help life science and biopharmaceutical clients worldwide transform scientific discoveries into new treatments. From clinical trials to regulatory and consulting services to commercial and market access, our therapeutic, technical and functional ability is underpinned by a deep conviction in what we do. Our Oncology Center of Excellence combines our early advisory core services of medical, regulatory, biostatistics and genomic/biomarker expertise with a multi-disciplinary team of oncology experts and key technology platform partnerships to bring your breakthrough treatments to market faster.

Parexel was named "Best Contract Research Organization" in December 2020 by an independent panel for Informa Pharma Intelligence. For more information, visit our website and follow us on LinkedIn, Twitter and Instagram.

About NeoGenomics, Inc.NeoGenomics, Inc. specializes in cancer genetics testing and information services, providing one of the most comprehensive oncology-focused testing menus in the world for physicians to help them diagnose and treat cancer. The Company's Pharma Services Division serves pharmaceutical clients in clinical trials and drug development.

Headquartered in Fort Myers, FL, NeoGenomics operates CAP accredited and CLIA certified laboratories in Fort Myers and Tampa, Florida; Aliso Viejo, Carlsbad and San Diego, California; Houston, Texas; Atlanta, Georgia; Nashville, Tennessee; and CAP accredited laboratories in Rolle, Switzerland, and Singapore. NeoGenomics serves the needs of pathologists, oncologists, academic centers, hospital systems, pharmaceutical firms, integrated service delivery networks, and managed care organizations throughout the United States, and pharmaceutical firms in Europe and Asia.

CONTACTS:ParexelBecky Levine+1 919 271-5151lori.dorer@parexel.com

W2OLindsay LeCain+1 508 259 9521parexelpr@w2ogroup.com

NeoGenomicsDoug Brown+1 239.768.0600 x2539doug.brown@neogenomics.com

SOURCE: NeoGenomics, Inc.

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Parexel and NeoGenomics Announce Strategic Collaboration in Precision Medicine to Improve Study Designs and Accelerate Patient Matching in Oncology...

Dublin, Feb. 02, 2021 (GLOBE NEWSWIRE) -- The "Precision Medicine Market - Forecasts from 2021 to 2026" report has been added to ResearchAndMarkets.com's offering.

The precision medicine market is evaluated at US$60.422 billion for the year 2020 growing at a CAGR of 8.79% reaching the market size of US$100.168 billion by the year 2026.

Increasing Chronic Diseases

The market is expected to be driven by the growth and surge in several chronic diseases such as cardiovascular diseases, obesity, and other related diseases. According to the World Health Organization, Cardiovascular diseases are one of the major causes of deaths, globally, every year. In 2016, an approx. 17.9 million people died from cardiovascular diseases, which represented approx. 31% of global deaths. Most of these deaths were due to different types of strokes and heart attacks. Precision Medicines have been quickly moving towards real-world clinical features, and various scientific and research organizations, have been looking at different strategies to apply medicine to chronic disease management. Alzheimer's and other related cognitive disorders are among some of the most frequent chronic diseases, which has been making a major impact on individuals, globally. According to the Alzheimer's Association, approx. 5.8 million Americans, have been living with this chronic disease. And, according to the estimation, the number is projected to increase to approx. 14 million, by the year 2050.

There have been various developments in this market when it comes to cognitive disorders. In recent years, Scientists discovered at the University of Buffalo, that a human gene, which is present in 75% of the American population, is one of the major reasons why a section of Alzheimer's Disease medicine or a drug, fails in human studies, despite showing promising results in animal studies. This is expected to be one of the factors in the growth of Precision Medicine, over conventional medicines. Diabetes is also one of the major reasons, which is expected to drive precision market growth. The National Institute of Diabetes and Digestive and Kidney Diseases, made precision medicines and drugs a major priority, for the institute's Diabetes Genomics and Genetics Program. The program has aimed to identify the intergenic regions and genes that provide protection, against type 1 or 2 diabetes.

Other major organizations have also been applying precision medicine techniques and technology for diabetes treatment. Massachusetts General Hospital discovered that the interventions, which had been focussed on individuals' genetic profiles and data, had been able to reduce the risk of type 2 diabetes. The Louisiana Health system performed around 300,000 virtual visits in the year 2020. The health system which is also known as Ochsner Health, provides digital health programs and solutions, to its patients. The Ochsner made substantial investments in the last four years, in developing direct to consumer telemedicine care services and delivery. The Ochsner will also develop telehealth for ICU, psychiatry, and stroke in the next decade.

Precision Medicine In Cancer Treatment

Precision Medicine is also known as personalized medicine, as doctors select this medicine based on a genetic understanding of the patient. The market is expected to be driven by the use of precision medicines for cancer treatment. According to the World Health Organisation, Cancer is the second major cause of death, worldwide. Cancer killed an estimated number of 9.6 million people, in the year 2018. There has been approx. 70% of deaths from cancer, in lower and middle-income countries.

There are several infections caused by cancer such as HPV, Hepatitis B Virus, C virus, and others. Precision medicine could be used to treat cancer, as there are genetic changes constantly occurring in a person's cancer problem. Scientists have been working to identify and conduct genetic tests, which would be used to decide the treatment of a person's cancer or a tumor. In January 2021, Researchers from the John Hopkins Kimmel Cancer Centre, The John Hopkins Departments of Oncology and Pathology, and other 18 organizations around Poland and the United States, compiled a database of neck and head cancers, which would be used to speed up the development and production of precision medicine therapies. With the collected database, the researchers got the clarification of key cancer-associated proteins, genes, which resulted in the advancement in the pathway of these cancers. Precision medicines will also be used for oncology, as major companies have been making developments in advancement and innovation.

In January 2021, Illumina, one of the major players in the market, announced an expanded and novel oncology partnership with Merck, Myriad Genetics, Kura Oncology, Bristol Myers Squibb, to advance a complete and detailed genomic profiling. Genetic sequencing is a major part of precision medicine, and this partnership would result in the advancement of novel and innovative precision medicines.

Current Trends

Segmentation

By Technology

By Application

By Geography

Key Topics Covered:

1. Introduction1.1. Market Definition1.2. Market Segmentation

2. Research Methodology2.1. Research Data2.2. Assumptions

3. Executive Summary3.1. Research Highlights

4. Market Dynamics4.1. Market Drivers4.2. Market Restraints4.3. Porters Five Forces Analysis4.3.1. Bargaining Power of End-Users4.3.2. Bargaining Power of Buyers4.3.3. Threat of New Entrants4.3.4. Threat of Substitutes4.3.5. Competitive Rivalry in the Industry4.4. Industry Value Chain Analysis

5. Precision Medicine Market Analysis, By Technology5.1. Introduction5.2. Data Analytics5.3. Bioinformatics5.4. Gene Sequencing5.5. Others

6. Precision Medicine Market Analysis, by Application6.1. Introduction6.2. Oncology6.3. Central Nervous System6.4. Immunology6.5. Cardiovascular6.6. Others

7. Precision Medicine Market Analysis, by Geography7.1. Introduction7.2. North America7.2.1. North America Precision Medicine Market, By Technology, 2021 to 20267.2.2. North America Precision Medicine Market, By Application, 2021 to 20267.2.3. By Country7.2.3.1. USA7.2.3.2. Canada7.2.3.3. Mexico7.3. South America7.3.1. South America Precision Medicine Market, By Technology, 2021 to 20267.3.2. North America Precision Medicine Market, By Application, 2021 to 20267.3.3. By Country7.3.3.1. Brazil7.3.3.2. Argentina7.3.3.3. Others7.4. Europe7.4.1. Europe Precision Medicine Market, By Technology, 2021 to 20267.4.2. Europe Precision Medicine Market, By Application, 2021 to 20267.4.3. By Country7.4.3.1.1. Germany7.4.3.1.2. France7.4.3.1.3. UK7.4.3.1.4. Others7.5. Middle East and Africa7.5.1. Middle East and Africa Precision Medicine Market, By Technology, 2021 to 20267.5.2. Middle East and Africa Precision Medicine Market, By Application, 2021 to 20267.5.3. By Country7.5.3.1. Saudi Arabia7.5.3.2. UAE7.5.3.3. Others7.6. Asia Pacific7.6.1. Asia Pacific Precision Medicine Market, By Technology, 2021 to 20267.6.2. Asia Pacific Precision Medicine Market, By Application, 2021 to 20267.6.3. By Country7.6.3.1. China7.6.3.2. India7.6.3.3. Japan7.6.3.4. South Korea7.6.3.5. Others

8. Competitive Environment and Analysis8.1. Major Players and Strategy Analysis8.2. Emerging Players and Market Lucrativeness8.3. Mergers, Acquisitions, Agreements, and Collaborations8.4. Vendor Competitiveness Matrix

9. Company Profiles9.1. Thermo Fisher Scientific Inc.9.2. AstraZeneca plc9.3. F. Hoffmann-La Roche Ltd9.4. Pfizer Inc.9.5. Nordic Bioscience A/S9.6. Medtronic9.7. Novartis AG9.8. QIAGEN9.9. Quest Diagnostics Incorporated9.10. Bristol Myers Squibb

For more information about this report visit https://www.researchandmarkets.com/r/qxh4vs

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Insights on the Precision Medicine Global Market to 2027 - Featuring Thermo Fisher Scientific, AstraZeneca & Pfizer Among Others - GlobeNewswire

The breakthroughs made possible by gene editing were shown in the Jan. 6 news that base editing had repaired a genetic defect in lab mice suffering from progeria, a disorder that prematurely ages and kills children born with the mutation.

Most first-generation gene therapies use a hollowed-out virus to carry synthetic versions of a gene into cells. The transferred gene isnt integrated into the cellular DNA, but the cell can still use the instructions to produce functional versions of the missing protein.

Hundreds of such gene-augmentation therapies are in clinical trials. BioMarin Pharmaceutical, UniQure , and Pfizerare each in Phase 3 trials on therapies to treat hemophilia, the bleeding disorder resulting from a mutation in the gene for a blood-clotting protein. Pfizer is also racing Sarepta Therapeuticsto treat Duchenne muscular dystrophy with transferred genes that can produce working versions of a muscle protein that patients cant produce.

Pfizer is making a big bet on these gene-transfer therapies, with three clinical trials that could lead to approvals in the next few years.

These gene-replacement therapies have limitations, however. Their effect wears off as children grow, or in parts of the body with high cell turnover, since transferred genes arent integrated in the genome and are left behind as cells divide. As a result, these expensive treatments might need to be repeated every few years.

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Gene transfer therapies are the 'next big thing' in medicine. Here's how gene editing works and the companies behind it - Genetic Literacy Project

Newswise PHILADELPHIAScientists in the Perelman School of Medicine at the University of Pennsylvania have uncovered the molecular causes of a congenital form of dilated cardiomyopathy (DCM), an often-fatal heart disorder.

This inherited form of DCM which affects at least several thousand people in the United States at any one time and often causes sudden death or progressive heart failure is one of multiple congenital disorders known to be caused by inherited mutations in a gene called LMNA. The LMNA gene is active in most cell types, and researchers have not understood why LMNA mutations affect particular organs such as the heart while sparing most other organs and tissues.

In the study, published this week in Cell Stem Cell, the Penn Medicine scientists used stem cell techniques to grow human heart muscle cells containing DCM-causing mutations in LMNA. They found that these mutations severely disrupt the structural organization of DNA in the nucleus of heart muscle cells but not two other cell types studied leading to the abnormal activation of non-heart muscle genes.

Were now beginning to understand why patients with LMNA mutations have tissue-restricted disorders such as DCM even though the gene is expressed in most cell types, said study co-senior author Rajan Jain, MD, an assistant professor of Cardiovascular Medicine and Cell and Developmental Biology at the Perelman School of Medicine.

Further work along these lines should enable us to predict how LMNA mutations will manifest in individual patients, and ultimately we may be able to intervene with drugs to correct the genome disorganization that these mutations cause, said study co-senior author Kiran Musunuru, MD, PhD, a professor of Cardiovascular Medicine and Genetics, and Director of the Genetic and Epigenetic Origins of Disease Program at Penn Medicine.

Inherited LMNA mutations have long puzzled researchers. The LMNA gene encodes proteins that form a lacy structure on the inner wall of the cell nucleus, where chromosomes full of coiled DNA are housed. This lacy structure, known as the nuclear lamina, touches some parts of the genome, and these lamina-genome interactions help regulate gene activity, for example in the process of cell division. The puzzle is that the nuclear lamina is found in most cell types, yet the disruption of this important and near-ubiquitous cellular component by LMNA mutations causes only a handful of relatively specific clinical disorders, including a form of DCM, two forms of muscular dystrophy, and a form of progeria a syndrome that resembles rapid aging.

To better understand how LMNA mutations can cause DCM, Jain, Musunuru, and their colleagues took cells from a healthy human donor, and used the CRISPR gene-editing technique to create known DCM-causing LMNA mutations in each cell. They then used stem cell methods to turn these cells into heart muscle cells cardiomyocytes and, for comparison, liver and fat cells. Their goal was to discover what was happening in the mutation-containing cardiomyocytes that wasnt happening in the other cell types.

The researchers found that in the LMNA-mutant cardiomyocytes but hardly at all in the other two cell types the nuclear lamina had an altered appearance and did not connect to the genome in the usual way. This disruption of lamina-genome interactions led to a failure of normal gene regulation: many genes that should be switched off in heart muscle cells were active. The researchers examined cells taken from DCM patients with LMNA mutations and found similar abnormalities in gene activity.

A distinctive pattern of gene activity essentially defines what biologists call the identity of a cell. Thus the DCM-causing LMNA mutations had begun to alter the identity of cardiomyocytes, giving them features of other cell types.

The LMNA-mutant cardiomyocytes also had another defect seen in patients with LMNA-linked DCM: the heart muscle cells had lost much of the mechanical elasticity that normally allows them to contract and stretch as needed. The same deficiency was not seen in the LMNA-mutant liver and fat cells.

Research is ongoing to understand whether changes in elasticity in the heart cells with LMNA mutations occurs prior to changes in genome organization, or whether the genome interactions at the lamina help ensure proper elasticity. Their experiments did suggest an explanation for the differences between the lamina-genome connections being badly disrupted in LMNA-mutant cardiomyocytes but not so much in LMNA-mutant liver and fat cells: Every cell type uses a distinct pattern of chemical marks on its genome, called epigenetic marks, to program its patterns of gene activity, and this pattern in cardiomyocytes apparently results in lamina-genome interactions that are especially vulnerable to disruption in the presence of certain LMNA mutations.

The findings reveal the likely importance of the nuclear lamina in regulating cell identity and the physical organization of the genome, Jain said. This also opens up new avenues of research that could one day lead to the successful treatment or prevention of LMNA-mutations and related disorders.

Other co-authors of the study were co-first authors Parisha Shah and Wenjian Lv; and Joshua Rhoades, Andrey Poleshko, Deepti Abbey, Matthew Caporizzo, Ricardo Linares-Saldana, Julie Heffler, Nazish Sayed, Dilip Thomas, Qiaohong Wang, Liam Stanton, Kenneth Bedi, Michael Morley, Thomas Cappola, Anjali Owens, Kenneth Margulies, David Frank, Joseph Wu, Daniel Rader, Wenli Yang, and Benjamin Prosser.

Funding was provided by the Burroughs Wellcome Career Award for Medical Scientists, Gilead Research Scholars Award, Pennsylvania Department of Health, American Heart Association/Allen Initiative, the National Institutes of Health (DP2 HL147123, R35 HL145203, R01 HL149891, F31 HL147416, NSF15-48571, R01 GM137425), the Penn Institute of Regenerative Medicine, and the Winkelman Family Fund for Cardiac Innovation.

###

Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $8.6 billion enterprise.

The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $494 million awarded in the 2019 fiscal year.

The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is powered by a talented and dedicated workforce of more than 43,900 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2019, Penn Medicine provided more than $583 million to benefit our community.

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Stem Cell Study Illuminates the Cause of a Devastating Inherited Heart Disorder - Newswise

They couldn't explain why those afflicted, often in the same family, had recurring fevers, abdominal pain, troublesome rashes and muscle aches. Known as familial Mediterranean fever, the disease often went undiagnosed for years, and it was sometimes fatal.

A similar, but unrelated, mystery fever was initially thought to affect families with Scottish and Irish heritage.

"The pain I felt back then, it moved around. One week the pain was in my leg, and the next week my arm would hurt instead," said Victoria Marklund, 47, a Swedish woman who suffered from TRAPS, or tumor necrosis factor receptor-associated periodic syndrome, a disease first identified in a family of Irish and Scottish descent living in the UK city of Nottingham in 1982.

Her father and grandfather died prematurely from kidney complications, which were likely a consequence of the undiagnosed disorder.

Marklund has now received an effective treatment and lives symptom-free -- largely thanks to the work of one US physician and health researcher, Dr. Dan Kastner, a distinguished investigator at the National Institutes of Health who serves as scientific director of the National Human Genome Research Institute.

"What Dr. Kastner has accomplished is absolutely groundbreaking. The concept of autoinflammatory disorders didn't exist before he identified the cause behind a number of them," said Olle Kmpe, a professor of clinical endocrinology at Karolinska Institutet in Stockholm who is a member of The Royal Swedish Academy of Sciences and chair of the Prize Committee. The academy also selects Nobel laureates.

"His discoveries have taught us a great deal about the immune system and its functions, contributing to effective treatments that reduce the symptoms of disease from which patients previously suffered enormously," Kmpe added.

Breakthrough

Kastner first came across familial Mediterranean fever in a patient with recurring arthritis and high fevers he treated as a rheumatology fellow just months into his first job at the NIH in Bethesda, Maryland, in 1985. That chance diagnosis set him on a 12-year journey to find the gene -- or genes -- responsible for the disease.

"It was known that familial Mediterranean fever was a genetic disease. It was known that it was recessively inherited, but no one knew what the gene was, or even the chromosome," he said.

He traveled to Israel, where he took blood samples from 50 families with familial Mediterranean fever.

It took Kastner seven years to locate the mutation to chromosome 16. It took another five years -- in 1997 -- for Kastner and his team to find the mutated gene itself -- one misprint in a genetic code comprised of 3 billion letters.

After this breakthrough, he stayed at NIH, where he studied undiagnosed patients with similar symptoms. He identified 16 autoinflammatory genetic disorders and found effective treatments for at least 12 of them, establishing a whole new field of medicine.

Now that the full human genome has been mapped, the process of detecting the genetic root of such disorders is quicker, and greater numbers of patients with these rare, unexplained diseases are being helped as a result of Kastner's work.

All-nighters

There are few images in science more iconic than the DNA double helix structure, discovered in 1953 by James Watson and Francis Crick, two years after Kastner was born. As a seventh grader, he once created a version of the twisted ladder shape using jelly beans and pipe cleaners for a science fair.

His work to identify the gene that caused familial Mediterranean fever had its own element of competition. In the summer of 1997, to beat a rival team led by French researchers, Kastner took a last-minute flight from Bethesda, Maryland, where the NIH is based, to Boston to submit his manuscript detailing the gene mutation that caused familial Mediterranean fever by hand to the journal Cell on a Friday afternoon.

These were the days before papers could be submitted with the click of a mouse. He hoped to publish his work first. Ultimately, the two teams published their papers simultaneously in different journals -- both fortunately arriving at the same finding.

"I love that type of thing," he said. "We still have races to the finish, and there's nothing like a good week of all-nighters."

Kastner had discovered that the gene involved in familial Mediterranean fever produces a protein called pyrin. Normally this helps to activate our innate immune system -- our first line of defense to fight bacteria and viruses.

In this case, however, pyrin made the innate immune system become overactive, resulting in fever, pain and joint inflammation. He went on to study patients with similar and more devastating symptoms -- identifying TRAPS and many more rare diseases.

Transforming lives

What has motivated Kastner for five decades is how his work decoding the genetics of inflammation can inform new treatments and ultimately transform patients' lives.

"There's nothing more gratifying in life and nothing more satisfying scientifically," he said. He plans to step down from his role as scientific director at the NIH in the next few months and then focus his efforts on his clinic, where he has over 3,000 patients enrolled and "find yet more disease genes, understand how they work, and develop new treatments."

"Of course, one can never know how long that will last, but I love doing it, and will continue as long as I can."

In more recent work beginning in 2014, Kastner identified and pioneered treatment for a severely debilitating genetic disorder known as DADA2, short for deficiency of the enzyme ADA2 (adenosine deaminase 2), which can cause recurring fevers and strokes starting in childhood. His research has radically improved the life of the daughter of Dr. Chip Chambers.

"She's now at college and the improvement in her quality of life has been dramatic."

Similarly, TRAPS survivor Marklund suffered for years before her diagnosis at the age of 38. Her nephews, who both have TRAPS but have been given medicine from an early age, don't feel the effects of the disease at all, she told The Royal Swedish Academy Of Sciences.

"I doubted many times that anyone would ever figure out what I was suffering from. So now it feels fantastic, to be told what it was, to understand the cause of the disease and that there is medicine that helps."

See the rest here:
Mysterious untreatable fevers once devastated whole families. This doctor discovered what caused them - CNN

Excitement took wing in the scientific community in the early 1990s, when the first gene therapy trial showed significant success, only to crash at the end of the decade with a patients tragic death.

Twenty years later, the excitement is back and greater than before. Although safety remains a concern, investigators are breaking ground in cell and gene therapy, and many believe that ultimately, a string of cured cancers will follow.

In 2017, the excitement over these therapies returned in spades when the FDA signed off on a cell-therapy drug for the first time, approving the chimeric antigen receptor (CAR) T-cell treatment tisagenlecleucel (Kymriah; Novartis) for patients with B-cell precursor acute lymphoblastic leukemia. At last, scientists had devised a way to reprogram a persons own T cells to attack tumor cells.

Were entering a new frontier, said Scott Gottlieb, MD, then-FDA commissioner, in announcing the groundbreaking approval.

Gottlieb was not exaggerating. The growth in CAR T-cell research is exploding. Although only a handful of cell and gene therapies are on the market, the FDA predicted in 2019 that it will receive more than 200 investigational new drug applications per year for cell and gene therapies, and that by 2025, it expects to have accelerated to 10 to 20 cell and gene therapy approvals per year.

We can absolutely cut the number of cancer deaths down so that one day in our lifetimes it can be a rare thing for people to die of cancer, said Patrick Hwu, MD, president and CEO of Moffitt Cancer Center in Florida and among gene therapys pioneers. It still may happen here and there, but itll be kind of like people dying of pneumonia. Its like, He died of pneumonia? Thats kind of weird. I think cancer can be the same way.

Essentially, you can kill any cancer cell that has an antigen that is recognized by the immune cell, Hwu said. The key to curing every single cancer, which is our goal, is to have receptors that can recognize the tumor but dont recognize the normal cells.

Community oncologists will need to be increasingly familiar about the various products, including their immediate and longer-term risks, Bo Wang, MD, and Deepu Madduri, MD, recently wrote in OncologyLive.1 It is key to understand the optimal time for referring these patients to an academic institution, as well as how to manage the requisite post CAR T-cell therapy in the community setting. Madduri is an assistant professor of medicine, hematology and medical oncology, as well as associate director of cellular therapy service, and director of clinical operations with the Center of Excellence for Multiple Myeloma at The Tisch Cancer Institute and the Icahn School of Medicine at Mount Sinai in New York, New York. Wang is a third-year clinical fellow in hematology/oncology at Mount Sinai.

Early referral to academic centers and hospitals equipped to deliver therapies is crucial for patients eligible for therapy. However, as advances continue in the field, community practices may be called upon to administer therapies in their clinic.

The Community Oncology Alliance (COA) envisions a broader role for the settings in which CAR T-cell therapies can be administered. When the Centers for Medicare & Medicaid Services (CMS) was considering coverage for CAR T-cell therapies in 2019, COA officials argued against limiting approvals to hospitals.

It is important to understand that there are state-of-the-art community oncology practices that have significant experience and capabilities in administering highly complex treatments, COA officials wrote in a letter to CMS. For example, stem cell transplants, which are similar in complexity to CAR T therapy, are performed successfully in the community oncology practice setting.2

Broader use of gene therapies depends on several factors, including navigating the logistics of gene therapies, addressing the high costs, and managing toxicities.3

Autologous CAR T-cell therapies involve a manufacturing process that requires coordination between the treating facility and the processing facility. Following leukapheresis, patients may require maintenance therapy to control disease progression during the manufacturing time, which can take 3 to 5 weeks.

In terms of cost, gene and cell therapies can cost from $375,000 to $475,000 per dose and they may face coverage restrictions from payers. Approvals could take weeks to obtain.3,4

Because of cytokine release syndrome and neurotoxicities associated with CAR T-cell therapy, the FDA mandates risk evaluation and mitigation strategy training for centers.

Further, providers may find that real-world experiences with gene therapies are different from those seen in the clinical trial setting, according to Ankit J. Kansagra, MD.

In a presentation at the 2020 American Society of Clinical Oncology Virtual Education Program, Kansagra, an assistant professor of medicine and Eugene P. Frenkel, MD, Scholar in Clinical Medicine at Harold C. Simmons Comprehensive Cancer Center in Dallas, Texas, said that in practice patients may be older and have more aggressive disease, with double- and triple-hit lymphomas.4

Specifically, Kansagra noted that medications such as steroids and/or tocilizumab (Actemra) to prevent or treat cytokine release syndrome or other toxicities were more frequently used in the real-world setting than what had been seen in clinical trials.

As it stands now, only a fraction of eligible patients are receiving CAR T-cell therapies, Kansagra said. Potentially, 9750 patients a year may be eligible for CAR T-cell therapies in approved and upcoming hematologic indications. From 2016 to 2019, a total of 2058 patients received CAR T-cell infusion.4

Next steps for transplanting these novel therapies to clinical practice will require changes in key areas, Kansagra said, such as supply chain management, patient support, and financial systems (Figure).4

Figure. Next Steps for Effective Delivery of Gene and Cell Therapies4

Meanwhile, multiple myeloma experts advise providers to be ready for change. As commercially available myeloma CAR T-cell therapies are approved, it will be even more important for community oncologists to better understand these therapies so they can offer them to their patients, Wang and Madduri wrote.1

Cell therapy involves cultivating or modifying immune cells outside the body before injecting them into the patient. Cells may be autologous (self-provided) or allogeneic (donor-provided); they include hematopoietic stem cells and adult and embryonic stem cells. Gene therapy modifies or manipulates cell expression. There is considerable overlap between the 2 disciplines.

Juliette Hordeaux, PhD, senior director of translational research for the University of Pennsylvanias gene therapy program, is cautious about the FDAs predictions, saying shed be thrilled with 5 cell and/or gene therapy approvals annually.

For monogenic diseases, there are only a certain number of mutations, and then well plateau until we reach a stage where we can go after more common diseases, Hordeaux said.

Safety has been the main brake around adeno-associated virus vector [AAV] gene therapy, added Hordeaux, whose hospitals program has the institutional memory of both Jesse Gelsingers tragic death during a 1999 gene therapy trial as well as breakthroughs by 2015 Giants of Cancer Care winner in immuno-oncology Carl H. June, MD, and others in CAR T-cell therapy. Sometimes there are unexpected toxicity [events] in trials.I think figuring out ways to make gene therapy safer is going to be the next goal for the field before we can even envision many more drugs approved.

In total, 3 CAR T-cell therapies are now on the market, all targeting the CD19 antigen. Tisagenlecleucel was the first. Gilead Sciences received approval in October 2017 for axicabtagene ciloleucel (axi-cel; Yescarta), a CAR T-cell therapy for adults with large B-cell non-Hodgkin lymphoma. Kite Pharma, a subsidiary of Gilead, received an accelerated approval in July 2020 for brexucabtagene autoleucel (Tecartus) for adults with relapsed/ refractory mantle cell lymphoma.

Another CD19-directed therapy under FDA review for relapsed/refractory large B-cell lymphoma, is lisocabtagene maraleucel (liso-cel; JCAR017; Bristol Myers Squibb). Idecabtagene vicleucel (ide-cel; bb2121; Bristol Myers Squibb) is under priority FDA review, with a decision expected by March 31, 2021. The biologics license application for ide-cel seeks approval for the B-cell maturation antigendirected CAR therapy to treat adult patients with multiple myeloma who have received at least 3 prior therapies.5

The number of clinical trials evaluating CAR T-cell therapies has risen sharply since 2015, when investigators counted a total of 78 studies registered on the ClinicalTrials. gov website. In June 2020, the site listed 671 trials, including 357 registered in China, 256 in the United States, and 58 in other countries.6 Natural killer (NK) cells are the research focus of Dean A. Lee, MD, PhD, a physician in the Division of Hematology and Oncology at Nationwide Childrens Hospital in Columbus, Ohio. He developed a method for consistent, robust expansion of highly active clinical-grade NK cells that enables repeated delivery of large cell doses for improved efficacy. This finding led to several first-in-human clinical trials evaluating adoptive immunotherapy with expanded NK cells under an FDA investigational new drug application. Lee is developing both genetic and nongenetic methods to improve tumor targeting and tissue homing of NK cells. His efforts are geared toward pediatric sarcomas.

The biggest emphasis over the past 20 to 25 years has been cell therapy for cancer, talking about trying to transfer a specific part of the immune system for cells, said Lee, who is also director of the Cellular Therapy and Cancer Immunology Program at Nationwide Childrens Hospital, at The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital, and at the Richard J. Solove Research Institute.

However, Lee said, NKs have wider potential. This is kind of a natural swing back. Now that we know we can grow them, we can reengineer them against infectious disease targets and use them in that [space], he said.

Lee is part of a coronavirus disease 2019 (COVID-19) clinical trial, partnering with Kiadis, for off-the-shelf K-NK cells using Kiadis proprietary platforms. Such treatment would be a postexposure preemptive therapy for treating COVID-19. Lee said the pivot toward treating COVID19 with cell therapy was because some of the very early reports on immune responses to coronavirus, both original [SARS-CoV-2] and the new [mutation], seem to implicate that those who did poorly [overall] had poorly functioning NK cells.

The revolutionary gene editing tool CRISPR is making its initial impact in clinical trials outside the cancer area. Its developers, Jennifer Doudna, PhD, and Emmanuelle Charpentier, PhD, won the Nobel Prize in Chemistry 2020.

For patients with sickle cell disease (SCD), CRISPR was used to reengineer bone marrow cells to produce fetal hemoglobin, with the hope that the protein would turn deformed red blood cells into healthy ones. National Public Radio (NPR) did a story on one patient who, so far, thanks to CRISPR, has been liberated from the attacks of SCD that typically have sent her to the hospital, as well from the need for blood transfusions.7

Its a miracle, you know? the patient, Victoria Gray of Forest, Mississippi, told NPR.

She was among 10 patients with SCD or transfusion-dependent beta-thalassemia treated with promising results, as reported by the New England Journal of Medicine.8

Stephen Gottschalk, MD, chair of the department of bone marrow transplantation and cellular therapy at St Jude Childrens Research Hospital, said, Theres a lot of activity to really explore these therapies with diseases that are much more common than cancer.

Animal models use T cells to reverse cardiac fibrosis, for instance, Gottschalk said. Using T cells to reverse pathologies associated with senescence, such as conditions associated with inflammatory clots, are also being studied.

CAR T, I think, will become part of the standard of care, Gottschalk said. The question is how to best get that accomplished. To address the tribulations of some autologous products, a lot of groups are working with off-the-shelf products to get around some of the manufacturing bottlenecks. I believe those issues will be solved in the long run.

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Harnessing the Potential of Cell and Gene Therapy - OncLive

January was a busy month for the US Food and Drug Administrations precision medicine efforts, as the agency produced guidance on ASO drugs for patients with debilitating or life-threatening genetic disorders and guidance on manufacturing considerations for certain cellular and gene therapy products during the COVID-19 pandemic.

The agency first issued a draft guidance to facilitate the development of individualized antisense oligonucleotide (ASO) drugs for patients with severely debilitating or life-threatening genetic disorders (ASO Guidance). The Food and Drug Administration (FDA) also issued a guidance, with immediate effect, on manufacturing considerations for licensed and investigational cellular and gene therapy products during the COVID-19 public health emergency (Manufacturing Guidance). Sponsors investigating or marketing these products should pay special attention to the discussion in these documents, as FDA outlines its approach to COVID-19 and development considerations with respect to these personalized therapies.

Manufacturing Guidance

The Manufacturing Guidance supplements FDAs June 2020 guidance on Good Manufacturing Practice Considerations for Responding to COVID-19 Infection in Employees in Drug and Biological Products Manufacturing. However, because cell and gene therapy (CGT) manufacturers may face special challenges, FDA recommends that CGT manufacturers perform risk assessments to identify, evaluate, and mitigate factors that may allow for the transmission of SARS-CoV-2 through CGT products. Any plans should take into account FDAs view that allogeneic products may be associated with a higher risk of infection compared to autologous products.

FDA specifically recommends the following:

As always, any adopted risk assessment and mitigation strategies must be documented and approved by the manufacturers quality unit, should include scientific justification and literature references, and should be submitted to FDA.

ASO Guidance

Turning away from the current COVID-19 crisis, FDA indicated that it is also looking ahead to the continued advancement of personalized therapies, issuing the ASO Guidance to assist sponsor investigators in the development of individualized ASO products for severely debilitating or life-threatening genetic diseases that are tailored to a patients specific genetic variant. As noted by FDA, the ASO Guidance is targeted to academic investigators, who may be less familiar with FDAs requirements and less experienced in interacting with FDA.

While the specific impetus for this guidance is unclear, assumedly FDA is receiving more inquiries regarding individualized ASO drugs from investigators, patients, or those acting on their behalf. Regardless of the reason, healthcare institutions where ASO products are used should familiarize themselves with FDAs requirements and processes to ensure that any use of an investigational ASO product accords with FDAs regulations. It will also be important that manufacturers supporting the use of ASO products or that later intend to work with ASO product investigators ensure that programs comply with FDAs regulations via contractual agreements and, as appropriate, due diligence.

For these programs, FDA recommends the following:

The ASO Guidance is likely a first step in the development of individualized therapies. As stated by FDA, the agency is optimistic that development of [ASO] individualized drug products may spur gene sequencing that leads to the development of additional individualized drug products. Accordingly, through the ASO Guidance, FDA aims to determine the most effective and efficient way to bring personalized drugs to patients, while ensuring the right risk-benefit balance.

Originally posted here:
FDA Issues More Guidance on Gene and Cell Therapy Products - Lexology

As part of the federal governmentsinvestment in domestic vaccine capability, a Vancouver company is taking their $25.1 million allotment to build a massive manufacturing facility in the Lower Mainland.

South Vancouver-basedPrecision Nanosystemsis building a $50.2 million biomanufacturing centre that could produce up to 240 million doses of vaccine every year in the 40,000 square foot facility. It's still assessing possible locations.

Its estimated completion date is March 2023, but the companys CEO says the investment is important on a number of levels.

"It's an investment in pandemic preparedness, an investment in the future, an investment in these critical technologies that are really the technologies of the future, said James Taylor in a Zoom interview. What were focussed on is the medium- to long-term pandemic responsiveness as well as developing capabilities and capacity around genetic medicine itself, so our facility will be able to utilize for programs that are involved in cancer, infectious diseases, rare diseases.

The same kind of messenger RNA technology that companies like Pfizer-BioNTech and Moderna have developed to quickly create and manufacture their successful COVID-19 vaccines is the same idea behind many local companies like Precision Nanosystems. Many members of the scientific community believe such genetic medicines that treat diseases at the molecular level are on the cusp of revolutionizing medicine.

"As long as you know how to create those instructions -- that genetic code you need to convince your body to create that target -- you can design an mRNA vaccine against any antigen," said Nicole Basta, an associate professor of epidemiology at McGill told the Canadian Press.

Vancouver-based Acuitas Therapeutics developed a lipid nanoparticle to protect the delicate messenger RNA strands that can be broken down by the body. https://www.ctvnews.ca/health/coronavirus/a-canadian-company-helped-make-one-of-the-most-promising-vaccine-candidates-1.5193860

Taylor described the Lower Mainland as a global hub in nano-medicines, pointing out the growing industry is deeply intertwined with researchers, scientists and experts working across borders on shared projects; Precision Nanosystems alone works with more than 160 other companies around the world.

This past a year has really shone a light on the importance of science and technology to solve deep problems globally, he said. It's important for us, as Canadians, to be strong participants in the development and innovation.

Originally posted here:
Vaccine Production in BC's Future - AM 1150 (iHeartRadio)

Bioinformatics is the field mainly involving molecular biology, genetics, mathematics, statistics, and computer science. The bioinformatics services include analysis of the data that can range from processing sequencing reads from instrument to data aggregation and mining data samples. Bioinformatics services can help biologists to understand the biological process with a computational intensive technique for machine learning algorithms, pattern recognition, data mining and visualization.

Bioinformatics tools can help to compare genomic and genetic data and understand evolutionary aspects of molecular biology. Bioinformatics services are finding wide application in chemoinformatics, genomics, metabolomics, RNA-seq analysis, and drug design. The database is an important part for bioinformatics research and application to cover various information types including molecular structure, protein and DNA sequences, and phenotypes in bioinformatics services.

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Bioinformatics Services Market: Notable Highlights

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Some of the most prominent competitors operating in the competitive landscape of global bioinformatics services market include

Bioinformatics Services Market Dynamics

Bioinformatics Services Finding Wide Application in Personalized Medicine Discovery

With the increasing prevalence of various diseases, new treatments and drugs are being discovered and developed. Extensive molecular biological data on patients is being included on a large scale in diagnosis and treatment. Bioinformatics services is fundamental to precision medicine as developing personalized medicine depends on accessing genetic and molecular data. In recent years, the majority of the molecularly targeted drugs have been developed based on the detected gene mutation.

Next-gen sequencing in bioinformatics services is emerging as an important tool in genomic analysis and developing personalized medicine. Next-gen sequencing along with microarrays in bioinformatics services have also paved the way for precision medicine in oncology. Meanwhile, increasing availability and decreasing the cost of next-gen sequencing is allowing worldwide cancer centers to offer next-gen sequencing based personalized oncology for clinical practice while suggesting specific medicine and treatment.

Increasing Initiatives by Governments and Private Organizations in Bioinformatics Services

With increasing application of new technologies in life science, governments and organizations across various countries are investing in the new technologies and in research and development activities in bioinformatics services. According to the Global Alliance for Genomics and Health (GA4GH), around 60 million genomes are likely to be sequenced by 2025. Moreover, with the presence of national clinical genomic initiatives worldwide, the generation of genomic data in healthcare is expected to outpace that in research in the coming years. Governments across countries are increasingly investing in the biotechnology and bioinformatics services to effectively implement new technologies and support genomic and epidemiological research.

Countries such as the US, UK, Australia, France, Japan, Saudi Arabia, Qatar, Denmark are developing new strategies for projects focusing on cancer and rare diseases, along with the use of sequencing services and genomic data. New research activities are also being conducted for application of bioinformatics services in biodefense. The Mid-Atlantic Microbiome Meet-up (M3) is focusing on the use of next-generation sequencing technologies and recent advances in biodefense, especially related to infectious diseases, and also using metagenomic methods for detection.

Shortage of Skilled Workforce and High Cost Hampering the Bioinformatics Services Market Growth

Although bioinformatics services is emerging as an important part of research in life science, lack of skills and knowledge in bioinformatics is hindering its growth. With the technological and process advancements in biotechnology, it has become imperative that bioinformatics techniques are performed by skilled personnel. However, the need for heavy investment in tool upgradation and installation training is impeding the growth of bioinformatics services. Owing to this there is a lack of skilled manpower in bioinformatics services who can adapt to the high-end bioinformatics techniques and processes.

Moreover, the lack of skilled professionals in bioinformatics services is also hampering the growth of clinical laboratories as they are focusing to automate processes. However, in recent years, governments along with healthcare institutions are focusing on strategies to provide new courses in bioinformatics as it holds a big promise in solving many health related and environmental issues.

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Bioinformatics Services Market Segmentation

Based on the type, the bioinformatics services market is segmented into

On the basis of application, the bioinformatics services market segment includes

Based on the specialty, the bioinformatics services market is segmented into

Based on the end-user, the bioinformatics services market segment includes

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Bioinformatics Services Market | Know the Latest Innovations and Future Market Scope - BioSpace