Personalised and precise healthcare means a better quality of life for patients

Diagnosis is the key to identifying the most adequate and effective treatments

Advances in biotechnology and clinical practices are evolving our health systems towards a more personalised era. For example, DNA sequencing and biomarker testing allow healthcare professionals to leverage profound knowledge of diseases and treat patients based on their individual genomic profiles. The molecular information these tools provide is particularly useful in cancer treatment. Recently, advancements in diagnostics have reached a point of being able to identify genomic anomalies within cancer cells specific to each cancer subtype. This level of detail helps specialists provide the correct and most precise diagnosis possible. 

In addition, technologies have expanded not only in depth but also in breadth, helping more people get an accurate diagnosis. A study on lung cancer patients conducted by the Brazilian Cancer Foundation found that the use of next-generation sequencing (NGS) to sequence DNA segments increased the rate of correctly identified cancer mutations: 24% additional cases were identified. This 24% represents cases that could have either been misdiagnosed or received an imprecise diagnosis, thus leading to the prescription of less accurate treatments. For misdiagnosed patients, that can mean prolonged treatments with a greater risk of side effects and in some cases even disease progression.

The value of precise treatments for patients

Personalised healthcare has created new ways of understanding the cause and course of diseases, supporting the development of more effective treatments that address not only the effects of conditions but also their cause. By identifying the genetic variants associated with certain diseases and each person’s genome, doctors can assess the risks of side effects, the dosage that will achieve the desired therapeutic effect, and the most optimal treatment duration, thus creating an individualised strategy that maximises benefits for the patient. 

Personalised treatments are highly valuable for managing rare diseases, which are conditions affecting no more than 1 in 5,000 individuals that can be chronically debilitating and life-threatening to those who suffer from them. In Latin America, chronic lung conditions like cystic fibrosis are among the most commonly occurring rare diseases. In the case of cystic fibrosis, medical advances have shown that both the genetic configuration and the symptoms of the disease can vary. As a result, treatment should be administered and tailored based on the patient’s phenotype. Considering the patient’s environment, lifestyle, and genetic factors, it is possible to individualise treatments and drug doses to reduce the symptoms that patients experience and improve their outcomes.

The challenge to access in Latin America

One of the obstacles to adopting personalised healthcare in Latin America is the limited access to healthcare among the region’s citizens. As the COVID-19 pandemic has evidenced, structural gaps in the areas of health, social and economic policies must be addressed to improve equity and create the conditions necessary to support the development of strong, effective patient-centred health systems. Despite these challenges, our region is rapidly progressing towards the adoption of personalised healthcare, in great part due to measures introduced during the pandemic to facilitate the use of digital tools and increase health access for our most vulnerable populations. 

I am confident we are on the right track to leveraging the benefits that personalised healthcare can provide our patients. By making personalised and more precise diagnostics and treatments available to a greater number of people, we can improve the quality and quantity of life for millions of Latin Americans, allowing them to realise their potential and contribute to our society. Let’s continue learning from the current context, working together to strengthen our health systems, assure universal access to healthcare and make personalised healthcare a reality across our region.