Angelina Jolie's recent article in the New York Times gave a touching insight into her decision to go through a second round of preventive surgery, this time to remove her ovaries and fallopian tubes to prevent the risk of contracting ovarian cancer. Jolie carried a mutation in the BRCA1 gene, revealed by a simple blood test, which gave her an estimated 87% risk of breast cancer and a 50% risk of ovarian cancer. To avoid the same fate as her mother, grandmother and aunt before her, all of whom lost their lives to cancer, Jolie has been proactive over the past couple of years in pioneering a medical technique, specifically genetic testing and analysis, that should be easily accessible to everybody, not just celebrity actresses. By doing so, she was empowered with knowledge, and consequently the ability to change the course of her life.
Predictive analytics is today being applied to genetic testing that can provide GPs and specialists with a highly accurate picture of a patient's disease and health profile, whether they are already ill or not. Such testing is now partially available in a number of countries, as hospitals and healthcare systems adopt systems which offer the best analytical performance alongside speed and accuracy.
As a rapidly-evolving field of medicine, genetic analysis relies on the sharing and pooling of data so that experts can learn more about the complex variations in the human genome which contribute to disease risk or mutation. Sharing knowledge between laboratories and other medical institutions is critical in improving the accuracy of the information on which patients like Jolie ultimately make life-changing decisions. Sharing knowledge today leads to more clarity tomorrow for those at risk.
In Europe, many countries are leading the way with the adoption of highly advanced analysis and sharing of anonymised data. An increasing number of cancer patients, and those with other congenital diseases like cystic fibrosis and conditions like cardiovascular disease, benefit from better advice and informed decision making. We are only at the beginning, but this promises to be a fast and life-enhancing medical revolution.
In many cases the data being shared is done so securely and anonymously. At Sophia Genetics, we do this via a form of online clinical community which helps to improve knowledge and accuracy about so called 'variants of unknown significance'.
Last year, for example, over 3,000 women were tested for BRCA1 and BRCA2 mutations using the Sophia Genetics platform in France and Switzerland. Through this, a total of 55,000 genetic variations were detected in these two genes by laboratories and hospitals. These were then classified as pathogenic or benign, and shared to improve diagnosis.
Although the number of patients benefiting is increasing, adoption is slow and healthcare providers must do more to give those at risk the tools they need to make the right decision about their treatment path. After all, the technology is available today. However, without more widespread awareness and adoption of testing and analysis, patients will be unable to follow Jolie's advice to "learn about the options and choose what is right for you personally."
By raising awareness, more people can benefit from access to genetic data. This will ultimately lead to more informed decision making for patients who, like Jolie, face incredibly tough decisions. European healthcare providers should use Jolie's example of her journey to look again at what services they offer to patients to ensure they have the same levels of information on which to base decisions about their future and personal care path.Suggest a correction