Diagnosing rare diseases with genetic data
By Microsoft
Advice for practitioners and policymakers to address a global challenge in healthcare.
Millions of patients with rare diseases go through this rollercoaster. An estimated 300 million to 500 million live around the world with diseases that can be life threatening or debilitating, but are hard to diagnose. Only 5% of the 7,000 diseases in this category currently have treatments.
Microsoft and biotech company Shire have partnered to launch a global commission into these diseases and how they can be diagnosed faster. In 2019, the commission will come out with recommendations for policymakers and those in healthcare professions.
Microsoft’s General Manager for Public Sector in Asia Pacific, Vivek Puthucode, shares how technology will play a role in this.
Using AI
Artificial intelligence can help find patterns in these diseases, Puthucode says. There is already a great deal of data on vitals, demographics, genetic sequencing and diseases, and technologies can provide a “smart way of bringing all the data together”, he says, “Tools like machine learning and artificial intelligence can speed up pattern recognition.”
80% of rare diseases are genetic in origin, and so genetic and cellular data can provide crucial answers. Such an approach to rare diseases would help healthcare officials plan out new treatments, drugs and care protocols.
Researchers at Microsoft are already working on a tool that models cellular activities on a computer. The models compare the the behaviour of cells taken from patients with those from healthy people, allowing researchers to test the possible impact of different treatments. “The biomodel analyser can say: if you send this drug into a patient with this genetic combination, these are all the impacts,” Puthucode explains.
Health policies and data
Policymakers will play a crucial role in managing rare diseases, he adds, to minimise the economic and social cost to the community. 50% of cases begin in childhood. Adult patients often have to leave jobs because of the time needed to take care of themselves. At the same time, they face financial burdens from growing medical bills.
Policymakers can create the right screening requirements using data, to identify cases early, Puthucode adds, such as in particular locations or in people with a certain genetic history. “The ultimate aim is to create a pathway for early detection, early diagnosis that reduces the social and economic impact, and increases quality of life from a patient and family standpoint,” he says.
Officials will also have to create guidelines as to how and to what extent such technology and data should be used for targeted screening. “There’s a stigma attached to say that all people of a certain type are predisposed to this,” he explains. “Policymakers will have a better answer as to what is acceptable and what is not from a community standpoint.”
Rare diseases also suffer from a lack of research funding because cases are simply harder to come by. Governments can help address this gap by introducing funding to find new kinds of treatment and care, Puthucode recommends.
Accessibility and connectivity
Treatments and diagnoses will also need to be more accessible to patients across the developing world. General practitioners with the skills and experience to identify rare diseases are hard to find.
Technologies like Skype can help patients connect with specialists in other parts of the world. “They are able to talk to the patient and able to share medical records in a safe way,” he adds. This has made a big difference in eye care, for instance, as eye specialists are not found in every part of the world, he explains. Better connectivity between primary care, patients and specialists can help “make huge progress” in cutting down the time take to find diagnoses.
Living with an unknown disease is a harrowing experience, mentally and financially, for patients and their caregivers. Practitioners, technologists and policymakers must work together to it a little less painful.