Angelina Jolie's lesson for healthcare providers in Europe

April 2015

Dr Mike Lynch on next generation gene sequencing, genetic data sharing and predictive analytics.

Angelina Jolie recently published an article in the New York Times where she gave some reasons for her decision to go through a second round of preventive surgery, this time to remove her ovaries and fallopian tubes. Better known for her Hollywood lifestyle and brood of children, Angelina Jolie is becoming an ambassador for a pioneering medical technique that should be easily accessible to everybody, not just celebrity actresses.

Some of Ms Jolie's message is about self-empowerment. Knowing that close relatives had died of cancer, she decided to do something about it, and set about talking to doctors that could give her more information. A few years ago, she underwent genetic testing and analysis, and found she carried the BRCA1 gene mutation that could increase her chances or developing breast or ovarian cancer.

Such self-empowerment, of course, should be available to everyone, irrespective of their wealth or celebrity status and, thanks to the most recent advances in Next Generation gene Sequencing and analysis, it is. All patients, whatever stage they are at in life, and whatever their individual genetic make-up, need accurate, reliable and trustworthy information on which to base potentially life changing decisions.

Predictive analytics are being applied to genetic tests that can provide GPs and specialists with highly accurate pictures of patients' 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 improves the accuracy of the information on which patients like Ms Jolie ultimately make their 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.

We are already starting to see a proliferation of "pop genetics" through companies such as 23andme who are introducing legions of curious individuals to their genetic ancestry in exchange for $100 and their data. And whilst many question the validity of 23andme's results, there is one aspect of the their business model that I think will prove to be of value, and that is the pooling of that anonymised data from individuals. The more genetic data is shared – securely and anonymously of course – by the clinical community, the more accurate genetic analytics will become. And the faster we do this, the faster we will all benefit, both as individuals and as a society that is better able to diagnose and manage disease in its population.

Already, thanks to some pioneering companies – and indeed, with technology out of Cambridge such as Solexa (acquired by Illumina), the Sanger Institute or Sophia Genetics - the number of patients benefiting is increasing. However, progress is frustratingly slow and healthcare providers must do more to give those at risk the tools they need to make the right calls. After all, the technology is available today. Without more widespread adoption of testing and analyses, patients will be unable to follow Ms Jolie's advice to "learn about the options and choose what is right for you personally."

We should have a goal to provide all laboratories and hospitals with the very best analytical performance of genetic data in Europe and to expand the existing platform for sharing knowledge and improving understanding. Ultimately this will lead to more informed decision making for patients who, like Angelina Jolie, face incredibly tough decisions.

Let's not waste the opportunity that Ms Jolie's publicity has afforded us.

A version of this article appeared in Cambridge News.