The need for Inclusion of Ethnic Minorities in Genetic Research

Genomics is quickly becoming integrated into our health-care systems, and uncovering diagnoses for many diseases that were previously genetic mysteries. However, current genomic databases despite being extremely valuable for research, often lack a diverse representation of ethnic groups from around the globe. The lack of diversity limits the ability of ethnic minorities to benefit from advances in healthcare. Genomic databases mostly contain data from individuals of European descent. As a result, those genome-catalogues do not represent the global population, but merely the ‘white’ Caucasian population.

Why is this important? To understand how diseases are influenced by our genes scientists must determine how often certain genetic variants occur in healthy people. If the variant is very common in the population, it is unlikely to be harmful; simply because disease genes are unlikely to be transmitted over generations. Collecting all this information determines what is ‘normal’ in a given population and which variants may cause complications.

Indeed, people from African and Asian ancestry are currently more likely than those of European ancestry to receive ambiguous genetic test results after genome sequencing, or be told that they have variants of unknown significance2. That lack of coverage means that that some populations are still being left behind on the road to precision medicine and geneticists will continue to miss important information about disease biology. For example, many African Americans are being misdiagnosed with a disease called Hypertrophic cardiomyopathy, an inherited heart condition that can cause sudden cardiac death. The reason is that those people were under-represented in the databases that were used for comparison. Variants that doctors thought caused the disease, and were regularly used to provide patients with positive diagnoses, were actually found to be common among healthy African Americans3 for whom these variants were normal. Patients were sent home with diagnoses of hypertrophic cardiomyopathy who didn’t actually have the disease. For others, healthcare providers are unable to provide them with a proper diagnosis, or prescribe unnecessary preventative treatments. Such situations happen often in minorities, a problematic situation because individuals from these groups often present with genetic conditions unique to their communities.

There are many reasons for this situation, some populations are easily bypassed. For example, people may have limited access to modern medical centers (like in rural areas), or decide not to contribute their samples to research due to cultural or historical reasons. Obviously, we must diversify genomic databases so that everyone can benefit equally from the genetic revolution.

To move the field forward, we at Shivom started a large-scale project in collaboration with local doctors and medical centers in the Punjab province in India to sequence population subgroups that are typically not showing up in the established genomics databases. The study cohort will primarily be composed of individuals from a remote rural area, from underprivileged/poor individuals in several urban regions (those that have no housing and/or medical support), and patients of several hospitals, e.g., with severe inborn diseases. The northern part of India has more than 220 ethnic groups living in very diverse topographies. The economic burden in dealing with health issues could be reduced by precision medicine, which could be achieved by use of detailed genetic information. The Shivom Project will lead to a new understanding of the different ethnic groups of Asia, a region with the highest diversity of ethnic groups, and which puts this part of India in a unique position for the mapping of the human genome.

Getting reliable genomics and phenotypic/peripheral health data from low-income countries will dramatically change health outcomes and prepares the global community to deal with neglected diseases and even disease outbreaks. Acquiring large amounts of genomic data from patients and healthy people in Africa, Asia, the Middle East and other regions will become increasingly vital to correctly assess and annotate disease variants. Long-term, all human groups need to be well presented in genomic databases.

Together, by sharing underrepresented anonymized genomic information, we are making genome sequencing more useful and actionable for researchers and healthcare professionals — to benefit all people, all over the world.

— By Dr.Axel Schumacher(CEO of Project SHIVOM)


1. Popejoy, A. B. & Fullerton, S. M. Genomics is failing on diversity. Nature 538, 161–164 (2016).

2. Petrovski, S. et al. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome Biol. 17, 157 (2016).

3. Manrai, A. K. et al. Genetic Misdiagnoses and the Potential for Health Disparities. N. Engl. J. Med. 375, 655–665 (2016).

Genetic testing — how to know what you don’t want to know.

Genetic testing becomes more common, due to the development of cheaper sequencing technologies, and the growing popularity of inexpensive direct-to-consumer (DTC) genetic testing services. Eventually, most people will undergo genetic testing, not only those with clearly elevated genetic risks. Only recently, Geisinger Health System (GHS), a physician-led health care system in the US, announced that they intend “… to sequence every single patient who comes through the door at Geisinger.” There are good reasons for this approach, genetic testing has some significant benefits, exemplified by a recent paper published by Buchanan and coworkers in the journal Genetics in Medicine1. Their study describes the impact of identifying likely pathogenic BRCA1 and BRCA2 genetic variants in patients who previously didn’t have cancer and were at an age to receive risk mitigating strategies. Out of 26 people who underwent a screening procedure over a 1-year follow-up period, three patients were indeed diagnosed with an early-stage BRCA1/2-associated cancer, demonstrating that screening for pathogenic gene variants among unselected individuals can lead to early disease detection with the potential to intervene at a disease-state when it is still possible.

But what about situations where we cannot intervene with medications or lifestyle changes? For certain diseases we do not yet have a cure, nor can we prevent it; one example is Huntington disease (HD). The disease is a hereditary condition which severely affects the brain and nervous system. The symptoms usually do not occur until people are in their forties or older. The disease is inherited in an autosomal dominant pattern, meaning an affected person has a 50:50 chance to pass the mutation that causes HD to the children. It is this type of information that some healthy, high-risk individuals prefer not to know. Usually, individuals who have a family history and are considering predictive testing should meet with a genetic counselor. Testing for HD is technically easy, but the implications and emotional aftermath of the results are usually anything but straightforward.

However, genetic testing gets more complex with the appearance of whole genome sequencing (WGS); the future of genetic testing. In WGS, all the approx. 3.3 billion base pairs in the genome are sequenced and can potentially provide insight about disease risk. Here, sophisticated algorithms are needed that can filter out those results that we don’t want to know. By providing educational material plus smart contracts on the blockchain (that define those filters), we can make the decision process much easier. To give an example, a person with a family history of breast cancer and HD could specify to be informed about any cancer risk, while no feedback, not positive nor negative, is given in regard to HD. With the rise of WGS testing, any DCT genetic test service provider should empower individuals with easy to understand information to help them evaluate genetic testing options. That is the reason that we at Shivom aim at developing solutions that help people become better informed and to support independent decision-making around these very emotional and personal testing decisions. To help doctors, researchers, and anyone else who deals with genetic testing navigate that minefield, Shivom aims to provide evidence-based information combined with smart contracts. Smart contracts are self-executing contracts with the terms of the agreement between parties being directly written into lines of computer code. The code and the agreements contained therein exist across a distributed, decentralized blockchain network. Using smart contracts, people can decide if they want to learn about their risk of developing certain diseases or not.

. With the rising interests in common and complex diseases genetic testing, it is certain that there will be an exploding need for genetic counselors in complex diseases in the coming few years2. This is one reason why we also aim to build a large global genetic counselor network. Genetic counselors will be responsible to provide education and risk interpretation for consumers as well as supporting health promotion models. Today, there is only one certified genetic counselor for every 80,000 Americans; the situation is even worse in other parts of the world where the profession of genetic counselor is almost unknown.

A global network of genomic/health counselors.

As genomic data become more common in the clinic, it is imperative that clinical scientists and physicians use automated and standardized tools which employ up-to-date methods and curated literature content. Optimizing and standardizing the analysis and interpretation of genomic data means reducing the opportunity for human error and ensuring that interpretation is robust and reproducible by basing it on a foundation of trustworthy scientific content.


1. Buchanan, A. H. et al. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet. Med. gim2017145 (2017). doi:10.1038/gim.2017.145

2. Wang, M. H. & Weng, H. Genetic Test, Risk Prediction, and Counseling. Transl. Informatics Smart Healthc. 1005, 21–46 (2017).

3. Shelton, C. A. & Whitcomb, D. C. Evolving Roles for Physicians and Genetic Counselors in Managing Complex Genetic Disorders. Clin. Transl. Gastroenterol. 6, e124 (2015).

— By Dr.Axel Schumacher,CEO of Project SHIVOM.

Data Privacy and Security in Genomics and Healthcare

For most individuals, storage of genomic information raises concerns regarding data privacy, and with good reason. Current medical research studies and databases harbor numerous potential vulnerabilities in their approach for protecting participant identity. This in turn raises broader issues about safeguarding user privacy as more information becomes readily accessible to the public. These issues are becoming more and more challenging, as genomic technologies and information are used increasingly outside of research and healthcare settings.

Health data are an increasingly popular target for hackers, as this data can sell for more money than credit card numbers in an increasingly sophisticated black market, including the dark web or darknet, where such private information is sold and resold.

Health data security should remain a top priority for governments, pharmaceutical companies, biobanks, and clinical research organizations of all sizes. At Shivom, we’re taking the approach of blockchain technology to store patient data, solve privacy and identity issues, reduce vulnerability to cyber-attacks, and secure valuable IP.

More information on blockchain technology can be found here (link to previous blog re blockchain). The reason for using blockchain are numerous, but one important aspect is that the consequences of even a single cyber-attack penetrating a network of patient data can be devastating, resulting in enormous losses. An ever-increasing amount of high-profile cyber-attacks have hit companies in recent years. For example, last years attack on Quest Diagnostics which provides diagnostic services to millions of Americans each year. The company joined the list of healthcare companies targeted by hackers when it announced a data breach that exposed the health information of about 34,000 people (link to story). Other data breaches were even bigger, for example, in 2016 when US health insurance giant Anthem (a part of the Blue Cross Blue Shield Association) announced a massive breach that compromised the data of 78.8 million people. Attackers gained unauthorized access to Anthem’s IT system and obtained personal information from customers such as their names, birthdays, medical IDs, social security numbers, street addresses, email addresses and employment information, including income data (link to story).

Another unsettling case was when in spring 2017 attackers stole half the US population’s sensitive personal data, Social Security numbers and credit card numbers from the credit reporting agency Equifax, yet individuals were not notified by the company until September. It has been marked as the worst data breach in US history (link to story). The Equifax hacking has created uncertainty over an estimated 143 million Americans who could be facing a serious threat of identity theft for the rest of their lives. On average, every day there are breaches in global healthcare systems. In the US, the majority (59.2%) of breached patient records were attributable to insider incidents. This clearly demonstrates that there is a significant security risk associated with centralized ownership of personal records.

At Shivom, we believe decentralization of the health and R&D data using blockchain is a step in the right direction for protecting personalized health records and all associated healthcare data. Although 100% crime prevention is impossible, using blockchain, we can gain the possibility of full detection, accountability, and audibility across highly complex systems.

We believe blockchain technology will help to reconcile the often-competing values of privacy and innovation.

The reason for this is that many people do not have confidence about giving out their personal health data online. This means they are less likely to use online services and applications, which can help foster innovation and drive personalized and self-managed healthcare.

We aim to change that mindset — providing safety and trust to all users. We will put the data owner in control, by implementing fine-grained consent and smart contracts on top of all processes. Valid, informed, freely given consent must be explicit for data collected and the use cases of the data. Blockchain technology will make sure that data privacy is not violated and that all participants are able to prove “consent” (opt-in), and any consent may be withdrawn at any time. For data storage, this means that when outsourced data storage on federated remote cloud infrastructure is used, only the data owner, not the cloud service or participants of the Shivom ecosystem, holds the decryption key.

Effective data protection means putting individuals in control of their personal information. We enable this by strengthening existing rights and by increasing access to those rights. The idea is simple. It’s the users’ data and they will decide how it’s used.

— By Axel Schumacher,CEO of Project SHIVOM

Natalie Pankova,CSO of Project SHIVOM

Understanding Blockchain Technology in Healthcare

Blockchain technology has transformed a number of industries in recent years, and has the potential to revolutionize many more as the public increasingly embraces its benefits.

Quite simply, a blockchain is a distributed tamperproof database, shared and maintained by multiple parties simultaneously on multiple systems. The database keeps secures the records that are added to it sequentially via links to private data, including personal health care data. Each file in the database contains a timestamp and secure links to the previous record. Records can be added to the database, but not removed, with each new record cryptographically linked to all previous records in time. New records can only be added based on synchronous agreement or “distributed consensus” of the parties maintaining the database. By doing so, it is impossible for one party to manipulate individual records. This type of process eliminates the extensive need for trust because participants in the blockchain can have mathematical certainty for every digital asset that constitutes the system you want to protect.

Blockchain technology will revolutionize healthcare. When storing healthcare data using a blockchain database, cryptography is used for encrypting the contents of a message or transaction, so that only intended users can open and read that content. The encryption process works via ‘Public Key Cryptography’ or asymmetric cryptography, an encryption system that uses pairs of keys. A “public key” may be disseminated widely to everyone, while a “private key” is known only to its holder. Either key may be used to encrypt a message, but the other key must decrypt the message. In this way, a patient can encode their health care data, including genomic data with a public key and be sure that only the holder of the private key can decrypt it. Second, the data can be encrypted with a private key. If the data, e.g. a hospital discharge letter, makes sense when it is decrypted using the corresponding public key, it is guaranteed that the holder of the private key is the party that encrypted the data. Such a process is equivalent to “signing” a message because it is analogous to someone putting their unique signature on a document.

Public Key Cryptography:

A cryptographic key generator is used to begin generation of a pair of keys suitable for use by an asymmetric key algorithm. Anyone can encrypt data (eg private genomic or health data) using the public key, but only the holder of the paired private key, for example a researcher or the patient’s physician, after consent by the patient can decrypt and hence access to the genomic data.

Blockchain technology, in the form of a universal model for record keeping and data storage and access (a secure, decentralized, pseudonymous file structure for data stored and accessed in the cloud) is the technology that is needed to move into the next phase of industrialized genomic sequencing.

At Shivom, we are working towards making this a reality. We aim to be at the forefront of data security and cryptography and our team works in close collaboration with leading cryptographers to add additional security levels to our platform that go well beyond using a blockchain for decentralization.

Multi-level cryptography:

It is necessary to integrate security and privacy into the design of a IT-platform (preventive action) as opposed to perceive it as an addition to a developed business solution. 
There are several layers of security and data provenance that we aim to implement, for example:

∙ Security for all parties of a transaction the owners of the solution as well as its users
∙ Stored information about the user is not to be ascribed directly to their physical identity unless it is strictly necessary and negotiated 
∙ User’s data is not to be linkable even if more external parties work together on extracting more information than the user has explicitly approved
∙ Service providers using the platform only receive valid user information without getting informed about the user’s identity

We will also work on algorithms to implement so-called proof of liability that makes it possible to identify a user who does not follow the playing rules e.g. by attempting to commit fraud (e.g. uploading data from another person).

In summary, our advanced blockchain-based architecture is aimed at enabling:
∙ That only the necessary healthcare information about the user is disclosed
∙ That disclosure is done under the user’s explicit control
∙ That the user may perform transactions under a virtual identity including not being identified unless strictly necessary/wished by the user

This will enable Shivom to be the safest, most robust health care and genomic data record and storage infrastructure globally, and enable collaborative R&D and precision medicine across health care systems.

— By Natalie Pankova, CSO of Project SHIVOM

Project Shivom Is Now an Associate of Nasdaq listed Genetic Technologies Limited

At Project Shivom, we are constantly aspiring for impeccability in DNA data curation and perfect our own data-oriented requirements, which is why we have partnered with a diversified molecular diagnostic company; the provider of BREVAGenplus®, a first-in-class, clinically validated risk assessment test for sporadic (non-hereditary) breast cancer, Genetic Technologies Limited (NASDAQ: GENE).

This strategic alliance aims to achieve the following:

 From Genetic Data collection to Genetic counseling, we will work with GTG to obtain not only flawless and ethically obtained DNA data for research and development in the field of Genomics, Cancer research, and Precision Medicine
 Enabling the user to obtain a more accurate DNA information and share it with third parties on a pay per use basis
 Empower medical and genomic research with a rock-solid base founded on easily comprehensible DNA Data, flawless analysis, and secure operations
 Using blockchain technologies to further streamline genetic technologies across genomic testing platforms

We are extremely happy to collaborate with GTG and hope to build a remarkable future in the avenues of DNA analysis, Genomic Research, and Medical education and solutions that can be derived eventually.

We will be collaborating with more proficient firms in the future to continue our pursuit of the ethical, efficient, and ever-expanding DNA and Genomic information.

Shivom at Festival of Genomics in London: The Landmark in the Journey of Genomics Towards the…

Shivom, with the goals of growing to be the largest genomic and health data-hub on the planet, is thrilled to announce its promotional booth at the London Festival of Genomics on January 30–31.

The festival highlights a stellar group of speakers from academia, biopharma and healthcare to explore the power of the genome in driving R&D and the diagnosis and treatment of disease into the future.

Shivom is bringing a disruptive, revolutionizing platform for integrating genomics with cutting edge technologies such as blockchain, AI and cryptography, and in doing so, this new massive ecosystem will create value for individuals, not-for-profit organizations, governments, and for-profit entities.

About the Shivom:

As the world’s first blockchain-based entirely vertical healthcare platform, Shivom will extend genomic services to form a global network of genomic counselors and associated laboratories for a fully integrated service system in a high scale fashion. In addition, through Shivom, we aim to launch a not-for-profit R&D organization based on collaboration and open-innovation, that optimally connects patients, clinicians, researchers, insurers and clinical laboratories to one another. By targeting the low-income and developing countries, Shivom will deliver genomics to all global healthcare ecosystems and rural areas, where these services have not been previously available, and enables clinicians and patients with genomic information that can be used to guide their decisions about personalized care, protecting research-participant interests in a manner that promotes maximum public benefit.

Genomic Data Hub Shivom Voted in as ICOS Project

Genomic Data Hub Shivom Voted in as ICOS Project

Shivom has been overwhelmingly voted for as a new project to receive ICOBox tools through the company’s ICOS platform.

This platform allows the ICOS token holder community to vote for what it considers to be the most promising ideas, and Shivom has received the most votes since the platform launched earlier this year. ICOBox then provides its readymade ICO solutions to the winners without an upfront payment, in exchange for their future tokens.
Shivom stands out as an innovative application of blockchain technology, applying it to work in conjunction with another promising technology, genomics. Genomic medicine shows promise to enhance the understanding and treatment of as many as 7,000 rare diseases. The ecosystem will have wide-ranging and potentially transformative uses with global application.

The core idea behind Shivom is that each individual’s DNA is a valuable and proprietary piece of information and that individuals should own this data and be able to decide how it is used and who gets to use it, and furthermore, be paid for its use as well.

As Shivom’s Gourish Singla, COO, describes, “When we submit our DNA for genetic analysis, our personal information is often sold by the laboratory to third-party companies, research institutions and nonprofits. Shivom upholds the right of every individual to their own data, and the right to sell it, but only if they wish to. Every user will have full, fine-grained control over who can see or access their genome data. In addition, to gain the volume of information necessary to study specific diseases, our company intends to recruit patients by giving the test away for free.”

To this end, the company plans to use blockchain technology, the same technology underlying Bitcoin and other cryptocurrencies, to create an ecosystem with the world’s largest database of individual DNA sequences.

A non-profit Shivom Foundation will be established to provide governance to oversee the database and give technical advice, offer marketing services and educational outreach, create incentives for contributors to share their data, and establish policies on transparency and conduct.

Embedded in our genetic code are multiple types of sensitive data that could be compromising if held in the wrong hands. As such, the Shivom database will use technologies such as state-of-the-art cryptography to ensure privacy, security and transparency, whilst blockchain will ensure the integrity of data and a decentralized approach to its storage. Using blockchain technology there is currently no viable way to hack it, or at the very least much less so when compared with traditional database systems.

The Shivom project is led by CEO Dr. Axel Schumacher, who combines 20 years of experience in the field of genetics alongside an authoritative position at the intersection of healthcare and blockchain. He is joined by an impressive cast of genomics and fintech luminaries including COO Gourish Singla, business leader and social entrepreneur; CMO Sally Eaves, Forbes Tech Council and Professor of FinTech, and CSO Per Lind, co-founder of the IOTA Foundation.

An important part of realizing this far-reaching vision will be the conduct of an ICO beginning January 10, 2018 and continuing until February 10, 2018. Shivom expects to collect a significant amount of funds in the ICO, which will help it to develop data-intensive techniques, including machine learning and artificial intelligence, to make optimal use and derive maximum benefits from the dataset.

To achieve this ambitious goal, Shivom will be using the technology and marketing tools developed by ICOBox to distribute its OmiX tokens, which will be created in the amount of 3 billion, equivalent to the number of base pairs in a haploid human genome. One third of these, approximately 990 million tokens, will be distributed in the ICO. These will be functional utility tokens that can be used in the Shivom ecosystem. for more info visit our website-


The Shivom Vision — Transforming the Future of Healthcare

We’re thrilled to announce the launch of the Project Shivom.

Over the last few years genomics and blockchain have reached the potential to significantly improve global healthcare. Genomic medicine has huge implications for the understanding and treatment of as many as 7,000 rare diseases, as well as cancers, complex disease such as cardiovascular and neurodegenerative, and infections. Project Shivom is the next evolutionary step in this development by creating a medical genomics ecosystem on the blockchain. For the first time ever, an ecosystem will offer an open web-marketplace for other providers to add not only genomics information, but also analytics, and associated apps and services to drive personalised medicine. We further aim to extend our services to form a global network of associated laboratories and research centres, as well as genetic counselors and other relevant services. On top of this global ecosystem we will build a not-for-profit R&D organization to serve the underserved, and deliver genomics sequencing technology and targeted health care. Leveraging blockchain technology, the research institute will be based on collaboration and open-innovation, that optimally connects patients, clinicians, researchers, insurers and clinical laboratories to one another. The Shivom platform works on principles of collaboration, openness, and integrity allowing patients to own their genomic data, have full access to it, and monetize it on the blockchain.

Blockchain technology is ideally suited to address most trust issues, such as patient consent, unclear data ownership, data integrity, or user authentication, enabling complex data rights management and fine-grained access using smart contracts. Using state-of-the-art blockchain technology means access to improved data security, easier data sharing, increased patient engagement, better quality ‘big data’ analytics, enhanced R&D processes, and artificial intelligence-based diagnostics for all participants. Our vision is for Shivom to be the largest genomic data-hub on the planet. In doing so, this new massive ecosystem will create value for individuals, not-for-profit organizations, governments, and for-profit entities.

We strongly believe that Shivom will change the fields of genomics, health care, and personalized medicine, for those in remote communities, and for the global system. We urge feedback on our project and whitepaper, and are excited to share further development news with you as it becomes available.