Can a data-driven medical system be so personalised it will revolutionise the future of health care? Women’s Brain Project co-founder Dr. Antonella Santuccione Chadha uses sex and gender to explain how precision medicine helps brings the right solution, to the right person, at the right time.
As Dr. Antonella Santuccione Chadha talks about her family and career, it seems problem solving and working out how people tick is in her blood. With a police inspector father and mother who was a teacher, she felt destined to help others and co-founded the Women’s Brain Project (WBP) to address what her TED talk calls the elephant in the healthcare room: the prevalence of women impacted by brain and mental diseases such as depression, migraine, multiple sclerosis and Alzheimer’s. Head of Stakeholder Liaison for Alzheimer’s disease at neurological biotechnology company Biogen, Antonella is also CEO of WBP, and leading the calls for precision medicine to improve brain and mental health.
Why the focus on sex and gender?
While a clinical reviewer for the Swiss Agency for Therapeutic Products, Antonella had the privilege of seeing medical data from a bird’s eye view. She noted a low rate of women in clinical trials and learnt of the prevalence of Alzheimer’s among women. With a husband and children of Indian descent, ensuring diversity in representation is a topic close to her heart. She was catalysed into action. Antonella began focusing her neuroscience and psychiatry expertise on sex and gender precision medicine, work that resulted in Women in Business magazine recently naming her ‘Woman of the Year in Business Switzerland’.
Most diseases differ between men and women in terms of prevalence and incidence, symptoms, diagnosis, progression and treatment.
This is particularly true for the trajectory and management of brain and mental diseases, which are often stigmatised. And while sex and/or gender clearly impact mental and brain health, no one really knows if and when the cause is sex (differences in brain diseases appear among male and female embryos) or gender (Alzheimer’s risk, for example, decreases with higher education, which itself has gendered constructs).
It’s about precision, not labels
But what is meant exactly when using the terms ‘sex’ and ‘gender’? The World Health Organisation sees sex as a range determined by chromosome complements, hormone balances and phenotypic variations. Similarly, the social construction of ‘masculine’ and ‘feminine’ genders is widely considered outdated. Facebook, for example, offers users a selection of 58 gender options.
This, says Antonella, is exactly the point of precision medicine. Instead of funneling people into risk groups or clustering them according to generalised characteristics, it considers each individual and their specific circumstance. “By including factors such as sex and gender, genomic and proteomics, microbiome, ethnicity and socio-economic status of patients in our analysis, we will be able to achieve precision medicine,” Antonella explains. “We will pave the way to embrace medicine that does not treat a non-existent average persona, but rather each person as per their specific characteristics.”
Despite an initial investment, precision medicine should be more cost and resource-effective. According to Antonella: “Precision medicine will make the healthcare system sustainable, improve costs, reduce waste, make drugs act better with fewer side effects and, finally, increase adherence to treatments simply because the drugs prescribed will work better.” Having detailed information about individuals allows for tailored prevention strategies, enabling diseases to be tackled before they manifest and pre-planning for high probability medical issues.
Data and awareness are crucial
Precision medicine is data-driven and clinical studies and research conducted from its point of view are needed. Awareness raising among the scientific community, technology industry, policy makers and the general public is crucial. WBP calls for a systematic and meaningful analysis of sex and gender differences in a patient’s baseline characteristics, disease progression and clinical outcomes. “We need to implement solutions, such as explainable algorithms in data analysis and drug development, to detect bias in systems and consequently implement mitigation strategies,” Antonella explains. “We need to incorporate key ethical considerations at every stage of technological development, ensuring that systems maximise the wellbeing and health of the population.”
We know this difference exists. It is reflected in medicine and the way we develop novel technologies. We need to take a stand and do something about it.
WBP believes precision medicine provides a new model for both healthcare and its related sectors, such as insurance. In talking about the current sex and gender discrepancy, Antonella avoids any discussion of fault. She focuses instead on the constantly evolving nature of medicine and its ethical obligation to respond to new knowledge, including that derived from sex and gender precision medicine. As she so succinctly says: “We know this difference exists. It is reflected in medicine and the way we develop novel technologies. We need to take a stand and do something about it – and that’s what we’re trying to do at the WBP. For me, once ‘differences’ become ‘characteristics’, that’s when precision medicine will have been achieved”.
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