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Molecular genetics has a significant role to play in the clinical practice

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“Are we in the era of genomic medicine?” was the key discussion topic for the Symposium held by SciGenom Research Foundation on August 8th, 2015

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Molecular genetics has a significant role to play in the clinical practice – experts discussed the same at a hematology conference by MedGenome at Bangalore.

“Are we in the era of genomic medicine?” was the key discussion topic for the Symposium held by ciGenom Research Foundation on August 8th, 2015.

Dr. Mammen Chandy, one of the pioneers of Bone Marrow Transplantation in India and the current Director of the Tata Memorial Center in Kolkata was the key speaker. The symposium held in Bangalore, discussed on the evolution of genomics and the current state of application of molecular genetics in clinical practice. Dr. Mammen Chandy highlighted case examples in Acute and Chronic Myeloid Leukemia (AML & CML) leveraging molecular genetics to decide on a course of treatment. The eminent clinician gave detailed explanations of the case histories from initial diagnosis, leveraging molecular genetics from MedGenome and the subsequent treatment choice.
“I am convinced about delivering proper patient care using available molecular genetics” Dr. Mammen Chandy said, “The process is still complex and requires specialists’ attention to interpret and apply appropriately for patient benefit” Other speakers included Dr. Arati Khanna Gupta and Dr. Shiv Kumar Viswanath of MedGenome and Dr. Anirban Chakraborthy of Nitte, Mangalore who presented research work in AML, sickle cell disease and anaemia.

“We were happy to take initiative for platforms such as these where eminent clinicians and researchers discuss and debate on the most recent advances in the field of medicine” Mr. Sam Santhosh, CEO MedGenome said “MedGenome, with its rich experience in the Indian clinical genomics market, have always believed in such collaborative work to advance the application of genomics in the clinical practice” MedGenome partners with such symposiums at regular intervals in line with its mission to advance precision medicine in India.
With the advent of new technologies such as Next Generation Sequencing (NGS) and improved analytics, algorithms and tools for genomic data analysis in the recent years, decoding an individual’s genome went through a revolution by exponentially reducing sequencing cost while increasing processing speed. Genetic testing has so far gained considerable traction in clinical setting for prevention, diagnosis, treatment and management of diseases with an underlying genetic reason.

REFERENCE

http://health.economictimes.indiatimes.com/news/industry/molecular-genetics-has-a-significant-role-to-play-in-the-clinical-practice/48420943

INTERVIEW: MedGenome raises Series B to advance the practice of precision medicine in India

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MedGenome, a leading provider of genomics research services globally announced $20 million Series B investment from Sequoia Capital on June 22nd 2015.

images MedGenome, a leading provider of genomics research services globally announced $20 million Series B investment from Sequoia Capital on June 22nd 2015. Sam Santhosh, CEO MedGenome, speaks to Shahid Akhter on the path that MedGenome is treading now and what lies ahead.

1. What prompted you to genomics and how has been the journey so far?

The completion of the first draft of the human genome by the International Human Genome Project in 2001 originally attracted me to this field. I was intrigued by the opportunity produced through understanding and leveraging the genomic source code which is the language of life for all living beings. I spent few years in reading and learning about the subject during which period, the DNA sequencing technology went through a revolution by exponentially reducing sequencing cost while increasing processing speed. For example, sequencing the first human genome took 10 years and cost about $3 billion, while now we are at a stage talking about a $1000 genome in two weeks.

With the advent of these new technologies called Next Generation Sequencing (NGS), I saw the opportunity of creating a company for genome sequencing and data analysis. Genomics can create dramatic changes in healthcare, agriculture, animal sciences, environmental protection, bio-fuel, and so on. Using the same technologies vertical solutions in these domains could be developed. So I created a services company called SciGenom and MedGenome was incubated as an entity for medical genetics. And we spun it off as a separate company in 2013. So far the growth has been encouraging.

We have a leading position in clinical genomics in India and has set the benchmark for clinical genomics in emerging markets. We have also pioneered genomics-based research in India through our network of collaborators to enhance our understanding of the diseases at the genetic and molecular level. These were possible because of our extreme focus on bringing the latest advancements in technology in the Indian market – be it the advanced NGS lab in Bangalore or the launch of the non-invasive prenatal test for the first time in a facility in India – and success in developing world class bioinformatics pipelines.

2. What was your initial vision for the company? Where do you think you are with the vision?

Initial vision was to create a company in India applying genomics to improve personalized medicine in India and reduce the burden of inherited diseases. Subsequently the vision got enhanced to provide genomic research solutions to pharma once we understood the potential of Indian population to provide better understanding of complex diseases. And this has been very exciting and rewarding experience.

We have the most advanced technologies in our lab, for example the latest Illumina HiSeq 4000 machine addition to our lab; the first in India. We have developed intellectual property through proprietary platforms such as OncoMD, our cancer mutation platform and OncoPept, our immunotherapy solutions supported by our unique bioinformatics pipelines and proprietary databases. We are also the leading clinical genomics company in the country. We have our presence in the US as well through our R&D lab in San Francisco and office in Boston. And the recent Series B funding will allow us to expand our offerings and reach further.

3. How do you find the concept of ‘genetic testing’ gaining currency in India today? How does this compare with global market?

We have seen good progress on the acceptance of genetic testing. It is a function of awareness and the affordability, both of which have been focus actions for MedGenome as the leader in the market.

What has been very encouraging is the consistency of the prescribers once they see the value of genetic testing in their practice. We work with thousands of doctors every month across hundreds of institutions and the collaborations have been very enlightening.

It is also important to not stop at delivering a report but also support the patient in learning about the specific nature of the genetic condition. Which is where counselling plays an important role.

Globally, genetic testing has gained considerable traction in clinical setting for diagnosis, prevention, treatment and management of a wide variety of diseases with an underlying genetic reason, in light of the recent advances and celebrity endorsements. It is a rapidly expanding segment of the molecular diagnostics market worldwide given the increasing awareness about the value that these tests bring to the healthcare providers.

4. How would you summarize the trends in the molecular diagnostics sector over the past five years?

Genomics has seen rapid advances in the technology of decoding the DNA, triggering a revolution in our ability to understand the genetic and molecular basis of health and disease.

Genomic biomarkers as companion diagnostics are helping the pharma majors to provide more targeted therapies. Oncology has taken a lead in this so far but applications in other disease areas have been looked into. Genomics to enable differential diagnosis in neurological disorders is a good example of this.

Translation of large scale sequencing data into information of clinical utility is gaining importance globally. In the US, many companies have leveraged this opportunity – Foundation medicine is offering comprehensive genomic profiling for tumors, Invitae provides genetic testing across multiple disease areas and Natera has grown on its proprietary non-invasive prenatal tests. Over a million tests in NIPT have been prescribed in the US so far. So an understanding of the need and the acceptance for genetic testing have been encouraging so far.

Predictive medicine, using advances in accurate technologies in medicine, genomics, proteomics, cell biology, imaging etc. and allowing us to predict how, when, and in whom a disease will develop has gained traction in the recent years. This could be a new revolution in human health care where genetic information contained in an individual’s genome is interpreted to predict future predisposition to diseases. Many companies have been built and are experiencing growth leveraging this trend, in the US especially.

Lot of work went into advancing the use of genomics in exploratory research and drug discovery in the recent years.

5. Your opinion about the genetic testing market and where does MedGenome stand?

Genetic testing has clinical applications for diagnostic, predictive, carrier, prenatal & pre-implantation testing, and newborn screening, also playing a vital role in pharmacogenetic testing. It offers distinct advantages because of its ability to facilitate early disease detection with simpler and cost effective treatment and stratification of patients into groups allowing selection of optimal therapy.

It is going to be the standard in the future. A genetic testing report will be an integral part of a physician’s decision making process. As far as MedGenome, it is a leader in the clinical genomics market. MedGenome offers more than 100 tests currently across Oncology, cardiology, ophthalmology, neurology and nephrology. We have pioneered the launch of advanced genetic tests in the country – such as the non-invasive prenatal test launched this year. We will be the only company conducting this test in a facility in India.

Outside India, we are focused on providing diagnostic and research solutions only. Our OncoMD, cancer analytics platform, provides valuable clinical parameters to enhance the value of a diagnostic report through an API integration. Our OncoPept, cancer immunotherapy solution, allows identification and prioritization of peptides towards vaccine development by pharma and biotech.

6. What hurdles you have faced since inception?

One of the first hurdles was on educating the prescribers and the patients on a larger scale about genetic test offerings and the impact it can have on patient’s life. We had few who were aware and were early adopters, but to scale and customize the offerings, we needed to generate awareness. Cost of infrastructure was also important. We focused on having the latest technologies in sequencing for India and that required investment. It has allowed us to provide high quality reports with faster turn-around times which is essential for the stakeholders. We also had to develop our IP on population specific variants in Indian patients. Such information allowed us to refine our genomic data interpretation more accurately giving us an edge in the Indian market.

7. What are the challenges you feel the genomics and biotech industries are facing today? Do we need regulations or code of conduct?

Rising R&D costs is a challenge that is experienced by the biotech companies globally. Regulatory barriers and reimbursement from insurance companies is also having a significant impact on the success of the industry. Genomics, as a discipline, is recently studied as a means to improve R&D efficiency by improved patient stratification for clinical trials, thereby reducing the time and cost required for the trial. Regulatory authorities are also encouraging this as the results from these trials are more targeted and in favour of the needy.

From genetic testing perspective as well, certain factors like regulatory body approval, and reimbursement from insurance companies are crucial. In the western world, insurers have started accepting genomic tests in their formulary as it is expected to reduce the cost of down-the-line treatment. Another challenge is on patient confidentiality and ownership of genomic data. Requirement is to have policies and committees to enforce a check on this as genetic testing grows in the clinical practice.

In India, these tests are yet to be offered at affordable prices. There is also a great need for clinicians who have a good understanding of genomics and its clinical significance. Genetics, as far as I understand, is not widely adopted as part of the medical college curriculum in India.

The patient journey must be well managed so that if a particular condition is identified, the experts are brought in to handle the situation and help the individual. There is a dearth of genetic counsellors who can explain genomics findings to the affected individuals and their families. In addition to this, lack of baseline genomics data of Indian origin and unclear policies on intellectual property rights also pose hindrances to the industry.

8. Where do you see MedGenome 10 years from today?

We want to be a global leader in genomics-based diagnostics and research. A company working on cutting-edge technologies and where core capabilities and Intellectual property are built.

We have an opportunity to look beyond generics in the Indian health care space and contribute towards drug discovery and exploratory research and gain a prominent role in the global healthcare industry.

9. Any advice you would like to give to budding entrepreneurs?

Science provides huge number of opportunities for budding entreprenuers. I would urge them to look beyond IT and Ecommerce and leverage the revolutionary advances in Genetics, Nanotechnology, Neuroscience and Robotics to develop products and solutions that can make a significant difference to humanity.

REFERENCE

http://health.economictimes.indiatimes.com/news/diagnostics/interview-medgenome-raises-series-b-to-advance-the-practice-of-precision-medicine-in-india/48193866

Start-ups: Busting dumb myths

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There are many myths and taboos attached to the start-up world. Some maybe quite real to a certain extent but some are utterly nonsensical. Often times much stereotypical beliefs float around which are not even to the slightest proximity to reality. 

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Investors, venture capitalists, financial institutions, incubators and everybody who are a part of the start-up scene have believed, and still believe many myths surrounding start-ups.

BioSpectrum’s Raj Gunashekar spoke to some of the leading Life Sciences start-ups in the country to do a reality check, and bust long-held dumb myths about Life Sciences start-ups. Here we go:

Myth #1: Biotech start-ups struggle with fundraising

Venture capitalist fundraising is difficult irrespective of the sector. “With a good product and a great team backing it, you become an attractive incubation target. There are a number of ‘healthcare only’ funds made available for life science start-ups,” says Dr Mallik Sundaram, co-founder of Mitra Biotech.

Investors shy away from Life Sciences start-ups because of the widespread notion that investments in this field are risky with long gestation periods.

“But in reality, a key contributor to the stunted growth of life sciences industry in India is lack of funds to attract great talent and technologies required to build great products. If we have the kind of money they are putting into mushrooming e-commerce and dot com ventures with no uniqueness, life sciences companies can develop impactful products and go to market with significantly shorter turnaround times. We must start believing in the potential of this industry and start pitching with large visionary ideas and gain the confidence of the investor community,” points Mr Tony Jose, CEO, Clevergene Biocorp, a two-year-old start-up in Bangalore.

While Life Sciences start-ups do require more investment, than typical software-driven companies that can get started in a garage, it is possible to build lean, and capital efficient companies in this space.

Mr Sam Santhosh, CEO & chairman, Medgenome, a start-up dealing with genomics-based diagnostic solutions stresses, “Start-ups in life sciences require a lot of capital to get started. In some instances, scaling up life sciences companies can be easier than other sectors, like e-commerce, as profitability is easier to attain upon achieving scientific milestones.”

Another start-up entrepreneur, Dr Saleem Mohammed, director, Xcode Life Sciences, thinks that Life Sciences start-ups requires large capital investment for infrastructures. “I think historically life sciences companies have required huge capital investment because of machinery, manpower, and labs among others. But these days you can easily outsource projects to any third party labs for your projects,” he expresses.

However, Ms Smitha Murthy, founder & CEO, Credora Life Sciences, bolsters the point that it is indeed really difficult to raise funds for research in start-ups.

Myth #2: Start-ups need larger investments, offer insignificant ROIs, and longer gestation periods

“This cannot be generalized saying it takes a longer time to see returns in this sector,” says Dr Mallik. “It depends on the extent of innovation, market acceptability and novelty of products and services. A novel concept will definitely take longer to sell, eventually bringing windfall. However, innovations in existing products see quicker returns.”

Founders of Bangalore-based, Leucine Rich Bio, Mr Kumar Sankaran and Mr Prabhath say that, “For Life Sciences start-ups, it is true that you need heavy initial capital. But there are ways to handle it. For example, you don’t have to have a fully-fledged lab at the very beginning itself. You can slowly grow better and better.”

Dr Raja Mugasimangalam, founder and chairman of India’s first agri-genomics start-up, QTLomics, argues, “There is no capitalism without capital. But a life science start-up with generous capital is bound to fail as optimization of the R&D cost or production happens much later, when it is too late. By smartly outsourcing and rightly negotiating, the capital investments can be reduced to a great extent.”

The beliefs that long-term investments and longer incubation periods are not true anymore.

“We live in an era where development and roll-out of apps or companies happen within 2 to 3 months. There are areas of life sciences where the incubation period is not long especially in the bioinformatics or BioIT space,” Dr Saleem reveals.

Noida-based start-up CromDx’s co-founder & CEO, Mr Sanjay Bhardwaj, comments, “It is a myth that life sciences start-ups requires huge funding. One can actually break their business plans in stages. It is crucial to find applications for the immediate markets. Building competencies and preparing for the market explosion is important.”

Investors usually believe that R&D is expensive. “Get your products and services launched and keep on improving it,” advises Mr Sanjay.

Myth #3: Big ideas equal big returns

Most of the ‘novel ideas’ are not first-in-class products. “They were developed based on millions of pages of literature, and a number of precursors. Apart from sound technical knowledge, right know-how of the market and consumer behavior can go miles in designing the right strategy for a start-up,” advises Dr Mallik.

Dr Sangeeta Naik, director of Bangalore-based start-up, Cleanergis Biosciences says, “It is generally perceived that in biotech it is easy to start-off and get multiple projects compared to other sectors. The reality is it is not that easy to achieve targets in the biotech industry.”

Also, it is a common belief that Indian Life Sciences start-ups do not work on cutting-edge technologies.

“This is a common perception and is not necessarily true. We are working on market leading efforts in genomics using the latest sequencing platforms, advanced bioinformatics and big data analytics. Curadev is a great example under the immunotherapies category,” Mr Sam adds.

Myth #4: Starting with the biggest market

Entrepreneurs advise that it is significant to look for niche segments to test the waters, and then replicate the process for rapid scale up.

“The market with most potential may always not be the right place to start with. It all again depends on the kind of products or services offered, and its acceptability level at the market,” Dr Mallik held.

When entering a particular market, it is believed that products or services are priced higher. Mr Sanjay advises, “Do a price versus volume analysis and the answer is obvious.”

Myth #5: Life Sciences start-ups are associated only with medicines

Life Sciences is a broad umbrella. “It comprises of agriculture, biofuels, synthetic biology among others which also fall under the life sciences domain,” comments Dr Saleem.

Dr Ezhil Subbian, CEO, String Bio, remarks, “Usually people assume that all life sciences companies are pharma ventures.”

Co-founder of genomics-based start-up, Bionivid Technology, Mr Hitesh Goswami voices, “A popular myth in the life sciences start-up scene is that you have to be a scientist to set up a start-up. This is absolutely not true.”

REFERENCE

http://www.biospectrumindia.com/biospecindia/features/221901/start-ups-busting-dumb-myths/page/1

Tracing the trends in genetic diagnostics

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Clinical diagnostics took a big leap with the advent of medical genetics but has it found its footing in India?  Amid the euphoria surrounding this diagnostic revolution, can India overcome major analytical and interpretative challenges that have emerged in recent years? By M Neelam Kachhap

Cure of an ailment is no longer magical or mystical in today’s time. In fact we know that accurate diagnostic is the key to right therapy. And genetic diagnostics has been able to take accuracy to a new level of truth. “With a population of 1.26 billion and 26 million births every year the burden of genetic diseases is very high. Many diseases can be predicted with great accuracy, prevented if genetic testing is done at the appropriate stage and some of the diseases can be cured or managed better if we know the precise genetic defect,” shares VL Ramprasad, COO, MedGenome, Bengaluru.

The widespread awareness and recognition of rising incidence of congenital and hereditary genetic diseases in urban India has led people to seek genetic testing and counselling services. “In the urban population, congenital malformations and genetic disorders are the third most common cause of mortality in newborns,” reflects Seemant Jauhari, CEO – Research and Innovations, Apollo Hospitals.

MARKET FOR GENETIC TESTING 

Due to explicit benefits related to rapidity, high sensitivity and specificity and scope for detecting diseases and disorders in early stage, today molecular/ genetic testing scores over the traditional methods. “Globally and in India, genetic testing and molecular diagnostics have made notable inroads into medical practice, particularly for infectious disease testing. However, more complex and advanced testing approaches (for cancer and other complex genetic diseases) may only be in the early stages,” says Dr BR Das, President – Research and Innovation, Mentor – Molecular Pathology and Clinical Research Service of SRL Diagnostics. “India holds the 5th rank after US, Europe, China and Japan in global molecular diagnostics market with double digit growth rate,” he adds. Quoting a WHO case study on genomics, Jauhari says, “Genetic diagnostics market is based on physician referral, although there is about 10 per cent self-referral by the patients.

HOW MANY CENTRES AND WHAT TESTS? 

A decade ago there were about a handful of centres offering cytogenetic services, with only a few clinics providing advanced cytogenetic, biochemical, prenatal diagnostic services and counselling. The Department of Genetic Medicine at Sir Ganga Ram Hospital, New Delhi established in 1997 is one of the pioneer genetics centre in India. The Genetics Unit, Department of Paediatrics, AIIMS, New Delhi; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI); Centre for DNA Fingerprinting and Diagnostics, Hyderabad; Indian Council of Medical Research, Mumbai; Department of Medical Genetics, Kasturba Medical College, Manipal are some of the notable institutes with good clinical medical genetics practice.

Today, after 15-20 years of frantic pace of development, molecular diagnostics is universally acknowledged as the modern face of pathology and more poignantly, as the pathology of the future. And with the arrival of new technology genetic testing has become more viable option for patients today. “With the new DNA sequencing technologies it has become practically feasible in terms of cost and time to do genetic testing,” says Ramaprasad. “There are about 9000 well-characterised genetic diseases (Mendelian diseases) and even though individually they are rare, collectively they account for 20 per cent of infant mortality or paediatric hospitalisation in the non-communicable disease segment,” he adds.

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Private labs like SRL Diagnostics are also doing exemplary work. A number of new companies like Bengaluru-based MedGenome, NutraGene and Eurofins Genomics, Genotypic Technology, Strand Life Sciences; Hyderabad-based  Mapmygenome, DNA Labs India; Mumbai-based  Datar Genetics, Positive Biosciences; Chennai-based X-code LifeSciences are bringing genetic diagnostics closer to people. “Over 100 laboratories, including big reference laboratories as well as regional medium-sized labs across India, offer molecular genetic testing,” informs Dr Das.

These centres receive samples not only from different parts of India, but also from Bangladesh, Pakistan, SriLanka, and Middle East and Africa.

RANGE OF TESTS 

India is at par with any other country in the world in terms of availability of genetic tests.  “Currently, worldwide estimated 1000–1300 genetic tests are available for approximately 2500 conditions, both for rare and common.  Considering the health priorities, disease prevalence and affordability, molecular/ genetic diagnostic tests pertaining to infectious diseases and cancer are more commonly available,” informs Dr Das. A number of genetic tests are available in India to look at prenatal and postnatal anomalies. “The key focus areas of genetic tests are: diagnostic tests; prenatal, familial and risk assessment,” says Jauhari.

REGULATIONS 

One of the gray areas in genetic testing is the absence of adequate regulations and framework. There is no official framework for assessing new genetic tests that become available in India, nor any formal system for approving which tests may be used in a clinical setting. “Presently there are no specific regulations pertaining to molecular/ genetic diagnostics in India,” says Dr Das.

“PCPNDT Act regulates the practice of invasive and non-invasive prenatal tests so that they are used only to detect the genetic defects but not revealing the gender of the foetus,” informs Ramprasad. Talking about prenatal genetic testing, Jauhari says, “There is a mandatory registration system for all the laboratories that provide prenatal diagnostic services in India. As per the Act, all the genetic laboratories, clinics and counselling centres offering prenatal diagnosis should be registered under the Pre-conception and Prenatal Diagnostic Techniques (Prohibition of Sex Selection) Act, 1994. The government passed this Act to prohibit the use of prenatal diagnostic techniques for sex selective abortion. Registration requires that these organisations comply with a range of quality assurance requirements.”

New diagnostic methods and interventional strategies for genetic conditions that are prevalent in India are developed and validated under the guidance of Indian Council of Medical Research (ICMR) through a task force on human genetics and by the Genetic Research Centre (GRC), a permanent national centre under the umbrella of ICMR.

Accreditation is one of the ways to preserve quality and safety of the process in genetic testing. “National Accreditation Board for Testing and Calibration Laboratories (NABL) has recently modified its scope for inclusion of specific guidelines related to molecular testing. Besides few major laboratories in India voluntarily follow guidelines mandated by College of American Pathologists (CAP), US, thereby ensuring services of global standards,” informs Das.

TRAINING AND EDUCATION 

Healthcare in India is plagued by the short supply of adequately trained personnel. Clinical genetics is no different. According to a report appearing in the Indian Journal of Human Genetics over 90 per cent of India’s medical colleges do not provide training and education in clinical genetics and genetic counselling, contributing to lack of professionals specialising in these fields. “Genetics literacy in India is sorely lacking even in the current medical training curriculum.  There is an urgent need for awareness and education regarding the use and interpretation of these advanced molecular tests,” says Dr Das. “SRL Mumbai is the only Maharashtra University of Health Sciences recognised centre in India which offers Fellowship Course in Molecular Pathology for post graduate doctors,” he adds.

Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; and President, Indian Academy of Medical Genetics opines, “We need to impart an understanding of the clinical applications of medical genetics to undergraduate and postgraduate students. Training of committed medical college teachers from various specialties like paediatrics, obstetrics, pathology, anatomy, biochemistry, internal medicine, oncology, etc. and helping them to collaboratively set up genetic units in each medical college is the only way to take clinical genetics to all clinics. Training of teachers will have rapid,  long term and multiplying effects. We need to take the fruits of research in genetics to the masses through clinicians from all specialties.”

“The Indian Council of Medical Research has initiated plans for creating a network of genetic centres in medical colleges and I hope this initiative proves to be successful in achieving its goal of disseminating the knowledge of genetics to all medical practitioners,” she adds.

Today, genetic testing has grown from a niche speciality for rare disorders to a broad scope of applications for routine, complex diseases and personal use. However, there is an urgent need for all stakeholders to step-up and uplift genetic diagnostics, making it available, accessible and safe.

REFERENCES

http://www.financialexpress.com/article/healthcare/genetic-diagnostics-special/tracing-the-trends-in-genetic-diagnostics/85007/

MedGenome inks partnership with Golden Helix for its cancer-specific variant knowledge base

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Golden Helix Inc. announced the integration of MedGenome’s OncoMD into their VarSeq software. The integration will provide VarSeq users with the option to access over 2 million annotated cancer variants

Today, Golden Helix Inc. announced the integration of MedGenome’s OncoMD into their VarSeq software. The integration will provide VarSeq users with the option to access over 2 million annotated cancer variants.

“This is an exciting partnership with Golden Helix to be able to deliver a robust medical informatics solution that enables precision medicine in the global clinical market,” said Sam Santhosh, CEO of MedGenome.

“Providing VarSeq users with access to OncoMD, allows clinicians to better tailor diagnostic and therapeutic strategies to individual patients”, said Andreas Scherer, President and CEO of Golden Helix. “Having key insights to cancer hotspots and known drug sensitivities, essentially moves precision medicine forward.”

VarSeq software streamlines the process of annotating and filtering variants obtained from NGS pipelines, allowing both research scientists and clinicians to find variants of interest in a very efficient and straightforward manner. VarSeq simplifies the user interface and provides a scalable architecture featuring repeatable workflows, note taking, reporting, and filter parameter prototyping.

REFERENCE

http://health.economictimes.indiatimes.com/news/industry/medgenome-inks-partnership-with-golden-helix-for-its-cancer-specific-variant-knowledge-base/47583469

Cartagenia Partners with MedGenome for Access to Cancer Variant Database

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NEW YORK (GenomeWeb) – Genomic informatics firm Cartagenia today announced a partnership to integrate MedGenome’s OncoMD Cancer database of clinically actionable cancer variants into its Bench NGS software platform.

MedGenome’s OncoMD is a cancer analytics platform that includes proprietary, curated data on 1.7 million cancer mutations, containing relevant functional information, data on drug sensitivity, and lists of potential clinical trials for patient enrollment.

“The combination of our OncoMD cancer knowledge base and Cartagenia’s unique software platform offer clinical and pathology laboratories two important tools to allow them to analyze and interpret their own patient data,” MedGenome VP of R&D Amit Chaudhuri said in a statement.

In November, Cartagenia signed a deal to integrate the Bench for Oncology software platform with CollabRx’s Genetic Variant Annotation service.

– By a GenomeWeb staff reporter

REFERENCE

https://www.genomeweb.com/business-news/cartagenia-partners-medgenome-access-cancer-variant-database

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