In the mid 1990s, in a lab in North Carolina, Dr Johnathan Lancaster saw a “squiggly line” on an X ray film that would ultimately change his life.
“I thought, ‘holy smoke this is it. We are seeing a little history,’” says Dr Lancaster, chief medical officer at Myriad Genetics in Utah and gynaecological oncologist.
For the past year he and an international collaborative team had been putting in 20-hour days in the hunt for the BRCA2 gene, and, finally, they realized they had it.
“What we had discovered, and what I was seeing in black and white there on that X-ray film was the explanation for why endless generations of that women’s family had been decimated by breast and/or ovarian cancer.”
It was a huge discovery, he says, particularly as a researcher, but also as a physician.
‘To look at basically a squiggle of a black line on an X-ray film (representing a change in the DNA that caused the BRCA2 gene to be inactivated) and realise this is why this woman developed ovarian cancer, it’s probably why her mum died of breast cancer at 29 and her grandmother died of ovarian cancer at 35 and so on, was a very humbling experience and massively exhilarating.”
Until recently Myriad carried the patent for BRCA2. This was not without controversy, but as Dr Lancaster notes the commercial incentive, and associated investment in research and education, did result in some two million patients being tested for the defective gene. Including global testing, Dr Lancaster estimates tens of millions of women have benefitted from the discovery and their lives potentially saved.
Being involved in such a “massively impactful” discovery sealed Dr Lancaster’s lifelong commitment to hereditary cancer research and precision medicine – and in his capacity as an expert in these fields he is now keynote speaker at APAC Forum 2016 in Sydney.
Dr Lancaster says his presentation will discuss the “catch up” required for the worldwide adoption of precision medicine tools. These include clinicians’ awareness of the tools, and the ethical, regulatory and financial considerations associated with their use.
He also hopes to discuss tensions between enthusiasm for investment in, and the use of, precision medicine with the fact that massive proportions of the world do not have access to basic requirements for health – for example clean drinking water, sustainable food supply, or effective disease-screening programmes.
“So there is something of a compare and contrast between what precision medicine has to offer versus the potentially much bigger advances and inroads into morbidity and mortality associated with human disease based upon really simple things.”
In a way, however, he notes precision medicine can be extended in its definition to include more simple disease prevention tools.
“One could define precision medicine as tailoring interventions to the individual patient that are designed to benefit that individual patient. In 2016 we tend to think of that as meaning we take a blood sample or we take a sample of tumour and we analyse the biomarkers and we tailor a therapy or a therapeutic intervention based upon the molecular profile of that patient or his or her tumour, and that is obviously one very important component of precision medicine.”
But, the wider term precision healthcare could mean ensuring that populations receive dedicated healthcare interventions, based upon their specific features. For example, individuals living in the Sun Belt may benefit from interventions to diminish sun exposure/skin damage, individuals at increased risk of cervical cancer may benefit from tailored prevention and screening strategies, or even that young people are encouraged towards better health choices through technology, social media, or gamification, he says.
Looking back at healthcare from the future, he says clinicians will not so much be astounded at what wasn’t known, as disbelieving at the way healthcare was delivered globally. Specifically in the U.S., how governments and other funding agencies paid clinicians for services without first determining their true value.
“The biggest ‘can you believe it’ will relate not to the medicine itself but the healthcare systems that were created and the way healthcare was delivered,” Dr Lancaster says.
“A decade or two or five from now we will look back and say ‘wow isn’t it amazing that back then we were paying people to do things in healthcare irrespective of how effective it was, or the quality of what they were doing’. Hopefully we will be in a space where doctors, healthcare systems and industries involved in healthcare will be rewarded based the quality of the product they deliver – whether it is the quality of the surgery they do, the care they deliver, the quality of the drug, device, or test they create. Value is the quality per dollar spent.”
Looking to APAC Forum, Dr Lancaster says such dedicated events pulling experts together are important, because the system still needs a great deal of work.
“We haven’t solved the problem yet, and as Einstein said, if you keep doing the same thing again and again and expect a different outcome, you’re insane.
“We have massive opportunities for improvement and we’re seeing massive advances in science and technology and the big question that we globally have to ask now is how do we leverage all these tremendous advances in science, technology, understanding of process engineering understanding of the power of the internet and the power of social media. How do we harness all of those things to advance care globally?”