Tailoring Treatment: The Rise of Precision Medicine in Patient Care

Precision (or personalized) medicine is a new approach to treating and preventing disease that takes into account individual variability in genes, environmental influences and the lifestyles of individuals. This innovative approach allows doctors and scientists to more accurately predict which strategies for treating and preventing disease will be more effective for a particular group of people. In the first part of the article we will look at how precision medicine is already working in oncology. In the second one - how digital health helps to revolutionasie patient healthcare with Precision Medicine Initiative.

What is Precision Medicine?

Precision medicine studies how genes, lifestyle (e.g. physical activity or dietary habits) and environmental factors affect health. If all of these can be tracked and measured, it is possible to manage the quality of life of an individual by tailoring individualised prevention or treatment methods.

The term "personalized medicine" or "precision medicine" is relatively recent, although part of the concept itself has long been embedded in the health care system. In oncology, for example, the search for specific genes or gene variants can be useful in cancer diagnosis, cancer prevention, assessing the effectiveness of treatment and studying the prognosis of the disease. For example, precision medicine can be used to understand how a particular mutation in a gene will affect a person's risk of getting a certain type of cancer.

The term "personalized medicine" is more often heard in the media. It is older and is usually synonymous with "precision medicine". But health experts do not recommend using it because of the polysemous colouring of the words: "personalisation" is perceived as "developing specific treatment and prevention individually for each patient", which is not the case. Specialists select methods already in use or new developments based on the characteristics of an individual person.

How are Mutations in Certain Genes Linked to Cancer?

Precision medicine is based on the fact that doctors and scientists know the approximate health effects of certain gene variants. The fact is that every cell in the human body has DNA that contains genes - instructions for assembling proteins needed for normal body function. When cells divide, genes are copied, but sometimes an error - a mutation - occurs in this process. "Mistakes" may be harmful, or they may never cause health problems. They may occur for the first time, or they may be passed on from relatives.

Genetic changes in cells are always the cause of cancer. A tumour contains mutated versions of normal cells that begin to actively multiply. Although scientists do not yet know all the genes and mutations that are involved in the development of cancer, some of them have been studied enough. This knowledge is used in medical practice. So mutations in certain genes (mostly inherited) can increase the likelihood of a person developing a certain type of cancer. And for some gene variants, one therapy may be toxic or ineffective, while another may be suitable.

How does Precision Medicine Help in Cancer Prevention?

Precision oncology is used to analyse the likelihood of developing certain types of cancers. For example, a doctor or a patient notices a recurrence of cancer in the family, or a close relative is found to have an inherited mutation in a gene when diagnosed with cancer. In these cases, you can go to a consultation with a geneticist, where the expert will study the situation and, if you suspect hereditary cancer syndromes, suggest genetic testing. If the test result is positive, the doctor may recommend that the patient be screened more often or prescribe other tests to help detect cancer at an early stage. They may also prescribe medications, suggest lifestyle changes to make healthier choices, or introduce habits that can help reduce the risk of cancer.

Which Cancer Treatments are Based on Precision Medicine?

When diagnosing cancer, a tumour can be tested for certain molecular genetic abnormalities. To do this, doctors use special tests, one of which is next generation sequencing (NGS). The detection of certain molecular genetic changes can influence the choice of therapy for cancer. The main goal is to increase the effectiveness of treatment and to avoid treatments that will not work or will cause more side effects.

Molecular testing is usually done for:

• lung cancer
• colorectal cancer
• breast cancer
• melanoma
• ovarian cancer and other types of cancer.

For example, it is already known that in lung cancer, alterations in the EGFR (epidermal growth factor receptor) and ALK (anaplastic lymphoma kinase) genes, which respond to certain drugs, are most common. Therefore, when an EGFR mutation is found in tumour cells, doctors can immediately offer EGFR tyrosine kinase inhibitors, which block the epidermal growth factor receptor, significantly improving treatment results in patients with advanced non-small cell lung cancer. But lung cancer with an ALK gene translocation is sensitive to ALK tyrosine kinase inhibitors. Therefore, targeting drugs like alectinib and ceritinib will be chosen for its treatment.

What are the Benefits of Using DH in Precision Medicine?

In the era of rapid information technology development, the healthcare sector is undergoing significant changes. The integration of digital health (DH) with artificial intelligence (AI) has paved the way for precision medicine 2.0, a revolutionary approach that promises to revolutionise patient care. The potential impact of this transformation is far-reaching, enabling healthcare providers to deliver personalised treatment and improve patient outcomes. It is possible to highlight the key contribution of this transformation to both AI and DT.

AI enables you to:

• Conduct Data analysis

Thanks to AI, it is possible to analyse large data sets (e.g. BIG DATA) and extract calibrated intervention models that would otherwise not be possible, for example by identifying more accurate prognostic, diagnostic and predictive markers for specific diseases.

• Take medical knowledge producing

In all the activities described, AI contributes to research and development of clinical and medical practice at different scales.

• Take diagnostics with AI

AI can provide important support to instrumental diagnostics using specialised algorithms, for example in medical diagnostics, digital pathology, digital radiology, digital dermatology.

• Personalise the treatment, monitor and manage diseases

AI, analysing clinical and molecular data in combination with information from large external electronic data repositories, can enable individualisation and personalised optimisation of treatment; the development of physiological parameters obtained using wearable devices allows monitoring and, if necessary, adjustment of patient care. Using telemedicine systems, all the information can be stored directly in the electronic health record.

• Telemedicine

Telemedicine allows medical services to be provided at a distance. Thanks to advanced telemedicine solutions (including the use of artificial intelligence), telemedicine can be increasingly tailored to the individual patient.

AI plays a fundamental role in precision medicine by enabling the interconnection of life science data and the creation of technology solutions that support the personalisation of care, which may use AI and/or other algorithm-based decision-making approaches.

Conclusion

In conclusion, the integration of precision medicine and digital health represents a groundbreaking paradigm shift in healthcare, ushering in an era of personalized and data-driven approaches to diagnosis, treatment, and prevention. The convergence of genomics, advanced analytics, and digital technologies has opened unprecedented avenues for tailoring medical interventions to individual patients, optimizing outcomes, and enhancing overall healthcare efficiency.

As we stand on the precipice of this transformative era, it is evident that precision medicine and digital health hold the promise of revolutionizing the way we understand, approach, and deliver healthcare. By leveraging the power of big data, artificial intelligence, and individualized genetic insights, we are poised to unlock new frontiers in medical care, providing more targeted, effective, and patient-centric solutions.

As these innovations continue to evolve, the healthcare landscape is set to be redefined, offering a future where medical decisions are not only evidence-based but also uniquely suited to the genetic and lifestyle nuances of each individual. Embracing this future holds the potential to not only save lives but to fundamentally change the trajectory of global health. The journey towards precision medicine and digital health is not without its challenges, yet the immense promise it holds suggests that we are on the brink of a healthcare revolution that will shape the future of medicine and wellbeing for generations to come.