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Precision Medicine Software Market

If you follow the trends and advances in medicine and healthcare, you may be familiar with the term “precision medicine”. But what does it mean? And why is it necessary to create special software for it?

Traditional Approach VS Precision Medicine

With Western medicine, drugs and other therapies are designed to treat large groups of people with the same disease — like diabetes or cancer. They may factor in sex, age, or weight, but overall, many doctors base the treatment on what’s most likely to work for everyone with a similar illness.

But not everyone responds to treatment in the same way. Some drugs work very well for certain people. Others don’t help at all or cause harmful side effects.

Precision medicine takes things a step further. Doctors examine your genetic profile and consider your lifestyle and environment while looking at the characteristics of your disease to determine the best treatment that would most likely work for you. Because it’s so closely tied to who you are, precision medicine is sometimes called personalized medicine, but many specialists still argue about such a definition.

Picture this: you get detailed tests that can gauge how your arthritis or cancer differs from someone else’s. Then you get a treatment tailored to you, rather than anyone else. Precision medicine, at its core, is about matching the right drugs to the right people.

Doctors can use precision medicine to:

  • learn your disease risk — testing your genes can reveal which conditions run in your family and how likely you are to get them;

  • prevent disease — once you know you carry a particular gene, you may be able to make lifestyle changes or get medical treatment so you don’t get sick. For example, women who carry the BRCA1 or BRCA2 gene mutation are at higher risk for breast cancer. Once it is identified, they may consider the following options to reduce danger: screening, chemoprevention, or risk-reducing surgery. Sometimes a combination of these options can be used;

  • find disease — if you know you’re at risk for a specific condition, you can get tested for it; the earlier you find diseases like cancer, the easier they are to treat;

  • target treatments — your genetic makeup can help guide your doctor to the drug that’s most likely to work for you and cause the fewest side effects. Precision medicine can even help you decide what dose of a drug you should take.

  • monitor your response — doctors can use precision medicine techniques to see how well your condition responds to treatment.

The ability to target therapies relies on patient characteristics called biomarkers, which are indicators of pathological processes or markers of response to treatment. These are objectively measured biological traits, which can be of many different types e.g. genetics, levels of substances in the blood, and imaging. A patient’s biomarker status is determined with modern diagnostic tools, particularly with companion diagnostic tests or next-generation sequencing.

Precision Medicine Software & Apps

Precision medicine software (platforms, data networks, clinical decision support software, artificial intelligence support, etc.) supplies the healthcare and life sciences community with integrated data and data-driven insights to strengthen their agenda. Applications of precision medicine can help save lives, proactively inform people about genetic risks, reduce healthcare costs, and improve quality of life. Awareness of future risk could be fundamental for wellness given that genomics plays a role in 9 of the 10 leading causes of death.

Oncology Precision Medicine Apps

Understanding the genomic basis for each patient’s disease can help pinpoint alterations that fuel cancer and allow the oncologist to select the right therapies to manage their patient’s cancer. This can result in a plan specifically tailored to the patient’s unique cancer which is the essence of applied precision medicine.

Actionable Alterations with CGP

Comprehensive genomic profiling (CGP) is a precision medicine application that uses a single assay to assess relevant cancer biomarkers, as established in guidelines and clinical trials, for therapy guidance. CGP of tumors could be a valuable tool in matching patients to the best treatment possible to improve survival rates and may also reduce the cost of care.

Hereditary Cancer Risk Apps

Identifying mutations that predispose individuals to cancer can support prevention and reduce cancer risk. Hereditary mutations play an important role in cancer risk and susceptibility.

Genetic Disease Apps

Genomics can cast a wide-enough net to identify or rule out genetic causes of diseases. The symptoms could be driven by underlying genetic changes, resulting in unexpected clinical presentations that may lead to a costly and extended diagnostic odyssey. Precision medicine applications that lead to a genetic diagnosis can help improve outcomes, promote enduring good health, and raise awareness about the importance of genetics in health care.


Pharmacogenomics (PGx), the study of how genome variations dictate a person’s response to medications, has the potential to bring about extensive benefits to healthcare. Each individual carries at least 5 known PGx alleles, and nearly all individuals (97%) carry one or more highly actionable drug-gene interactions.

Noninvasive Prenatal Testing

Noninvasive prenatal testing (NIPT) is the most sensitive and specific first-line screening option for all pregnant women, regardless of maternal age or baseline risk. Apps of NIPT offer higher detection rates and lower false positive rates VS traditional serum screening, with an 89% reduction in unnecessary confirmatory invasive procedures. Reducing the number of invasive confirmatory procedures results in less maternal and fetal risk.

Genetic Risk Apps

Awareness of future risks could be fundamental for wellness. Screening is critical in mitigating advanced disease or preventing it altogether. Incorporating these applications of precision medicine into public health initiatives could reduce the disease burden on the population and healthcare.

Public Health Apps

The COVID-19 pandemic highlights the need for improved surveillance overall and in future epidemics. Genomic surveillance can track infectious disease transmission and determine how quickly pathogens are mutating as they spread. Clinicians can use this information to implement effective infectious disease surveillance strategies to prevent further transmission and infection.

The precision medicine approach promises better clinical outcomes, safer medicines, and lower costs. Earlier, in 2020, the FDA approved 20 personalized medicines and biologics (39% of new approvals). Over the past five years, precision medicine has accounted for a quarter or more of all new drugs approved by the FDA each year. As the interest in precision medicine increases and its capabilities increase, the demand for precision medicine software is also expected to increase.

Favorable Government Initiatives

Recognizing the long-term benefits of personalized care in improving population health and reducing healthcare costs, governments around the world are supporting advanced therapies such as precision medicine through initiatives, regulatory changes, or research funding.

In the US, the Cancer Care Model, a special payment and delivery model developed by the CMS Innovation Center provides incentives that have led to a surge in large networks of community-based providers implementing precision medicine initiatives. Some of the other programs to promote research are The Precision Medicine Initiative (PMI), All of Us Research Program, precision FDA, and the Million Veteran Program. Additionally, in 2020, the FDA issued seven guidance documents on precision medicine. All these efforts will eventually increase the demand for precision medicine software.

The following factors are likely to drive the precision medicine software market update:

• technological advances to improve precise drug delivery;

• increasing the level of adoption of the cloud platform;

• emergence of local and regional startups;

• prevalence of cancer, genetic and rare diseases;

• expanding partnerships between software and pharmaceutical companies.

Wide Opportunities for Development in Oncology

Precision medicine is being used for certain cancers to help know what tests and treatments are best. Doctors might use precision medicine to help them:

  • identify people who might be at high risk for cancer, and help these people lower their risk;

  • find certain cancers early;

  • diagnose a specific type of cancer correctly;

  • choose which cancer treatment options are best;

  • evaluate how well a treatment is working.

High-quality patient data sets are the foundation for implementing precision oncology in clinical practice. Thus, it provides great opportunities for precision oncology software vendors. In April 2022, BostonGene, a precision cancer software startup, raised $150 million in Series B funding. In November 2021, GE Healthcare announced a collaboration with SOPHiA GENETICS, the University of Cambridge, and Optellum as part of its vision to advance healthcare, increase access to precision health and ultimately improve outcomes for cancer patients. In February 2021, Synapse, a provider of software to support precision oncology care and drug development, completed a US$68 million investment round to expand precision medicine led by RWE.

The goal is not to displace basic care, but to identify the best potential approaches to building precision medicine into budgeting and policy decisions. Continued investment can deliver the highest standards of health and healthcare to people around the globe.

It’s also important to say that precision medicine is not yet used for every type of cancer. However, the hope is that one day, treatments will be customized to the specific gene and protein changes in each person’s cancer. A great deal of research is being done in this area.

Key Challenges of Precision Medicine Software Market

For the emergence of precision medicine in every disease area, the industry must know how to optimize the use of big data with increasing amounts of genomic, health, and lifestyle information.

In addition, the high cost of deployment, challenges related to the secure storage of large amounts of sequenced data, lack of reimbursement for precision medicine-based treatments, and shortage of experts/bioinformaticians are some of the key challenges facing precision medicine software.

Precision Medicine Software Market Analysis

In 2021, the global precision medicine software market size was marked at USD 1,344.28 million and is expected to reach USD 2,657.21 million by 2027, growing at a CAGR of 12.03% during the forecast period.

Favorable government initiatives and the adoption of big data analytics and related software continue to drive growth in the precision medicine software industry. Precision medicine software is one of the fastest-growing segments of the healthcare IT industry, driven primarily by genomics, drug discovery and development, clinical research, and big data analytics.

Startups are using many software and machine learning algorithms to help solve serious and complex problems, such as reducing R&D timelines and billions of dollars in drug development costs.

Market Segmentation

The cloud segment will experience an absolute growth of more than 100% during the forecasted period. Cloud technology supports the industry with a flexible and deployable supplier engagement model. It delivers better outcomes by providing important information to clinicians while returning vital real-world information from key experts in the field.

Precision oncology has the highest share in precision medicine practices by application. Oncology is the leading and fastest-growing therapeutic area in the life sciences. New treatments are being introduced extremely quickly, with more than 1,100 oncology drugs in clinical development in the US alone.

Geographical Survey

North America: North America has made significant progress since the Human Genome Project in genome sequencing and precision medicine. The region is actively involved in the development and commercialization of cell and gene therapy using ICT and genome sequencing. This will increase the demand in the precision medicine software industry.

Europe: The European Commission has been the driving force behind the development of PM approaches that are easy to implement in healthcare practice. The efforts began in 2010 with a series of workshops dedicated to exploring different areas of research that could contribute to the development of precision medicine.

Asia Pacific: This region is likely to witness explosive growth and innovation in precision medicine. China has already begun to make significant progress in genomic research, announcing its precision medicine initiative earlier in 2016 with an investment of around US$9 billion by 2030.

Main Points

  • Blockchain technology can ensure data protection and ethical use. Thus, it has a huge scope in the precision medicine market.

  • Startups and large-scale companies are developing research platforms and methods to better understand the root causes of cancer. For example, the American startup OncXerna is creating a panel of biomarkers of RNA expression, with the help of which clinical researchers can develop algorithms for effective treatment.

  • Artificial intelligence uses complex computations and deep learning to overcome the obstacles of large, disparate data sets and extract information to enable the system to learn and reason. Over the past few years, AI approaches have been used in neurodevelopmental disorders, including autism spectrum disorders, epileptic encephalopathy, intellectual disability, attention deficit hyperactivity disorder (ADHD), and rare genetic disorders.

Final Word

Innovations in big data, AI, and medical science are guiding us to a previously unthinkable frontier — where treatments for some of the most devastating diseases can be uniquely designed to match an individual patient’s personal profile and genetic makeup. Think of a world where tailored therapies, even for formerly incurable diseases, can be delivered with potentially minimal side effects. From so many angles, that is a world worth investing in.


Mariia Maliuta
Mariia Maliuta (Copywriter) "Woman of the Word" in BeKey; technical translator/interpreter & writer

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