Next generation sequencing enabled precision medicine has the potential to revolutionize healthcare. However, there are significant barriers to overcome before precision medicine and genomic analysis are fully embedded at the heart of our healthcare systems.
Ahead of this year's Enabling Genomic Medicine 2020: Mainstreaming Genomics, we spoke to a number of industry leaders to find out their thoughts.
Those experts included:
- Michael S. Phillips, Chief Scientific Officer, Sequence Bio
- Tessa Homfray, Consultant in Medical Genetics, NHS St George’s Hospital
- Nick Lench, Chief Scientific Officer and Andrea Haworth, Head Scientist - Rare Disease, Congenica
- Miriam León Otegui, Head of Clinical Analysis, Veritas Genetics
Precision medicine is an investment
Tessa Homfray sees the main problem as a lack of understanding of genomic results and she highlights there are many examples where a pathological result is not trusted. There also remains a belief that if there is a genetic disease you can’t do anything about it. However, developments of specific treatments are now becoming possible, and therefore, testing becomes even more essential.
Michael Phillips agrees and says that clinicians have to change their attitude about the use of genomic information in the practice of medicine. They need to treat this type of information like any other test and use it to help guide their decision making. However, genomic tests are often held to a different standard. Clinicians and institutions have to be willing to adapt and change the way they do things.
Miriam León Otegui agrees and adds that we need to see precision medicine as an investment: spending money on genomic tests now will save lots of money in patient care in the future.
Changes are slow, but eventually, precision medicine will be mainstream
Nick Lench thinks that the main barriers are education and communication combined with demonstrated clinical utility and value for money – and considers these challenges significant. Michel Phillips also points out big challenges in some settings as clinicians have been skeptical on the use of genomics and people have been slow or resistant to use this information. Miriam León Otegui sees changes slowly being made but expects that they will take more time than we would like, but eventually, precision medicine will become more and more mainstream.
Genetics was thought to bring certainty to a diagnosis, and of course, on many occasions, this is the case, adds Tessa Homfray. When genetics brings uncertainty, this seems to cause challenges that other specialties find difficult to deal with, even though there has always been uncertainty in other fields of medicine. Hence, education of non-genetic specialists remains the major challenge. Speeding up testing is important. If the analysis of the results from a test are going to take months to arrive it is unlikely to be able to play a major role in the management of the disease in the short-term. Examples of patient and physician stories illustrating how and where genomics have made a difference to lives are often the most powerful way to persuade people to use the technology.
Stakeholders need to understand the importance of genomics and precision medicine
Healthcare “champions”, leaders in their respective fields, need to take action and be first movers to integrate precision medicine into their practices to demonstrate measurable benefits to their patients with improved outcomes, suggests Michael Phillips.
Miriam León Otegui adds that doctors and healthcare professionals need to make politicians understand the importance of genomics and precision medicine, so politicians can make the necessary changes in healthcare systems and educational programs to render genomics and precision medicine everyday medical tools.
Much of this will be driven by changes to educational curricula providing comprehensive knowledge about the application and benefits of precision medicine, expects Nick Lench. Champions within mainstream specialties can “evangelize” on the use of precision medicine, but there needs to be more of them across all mainstream disciplines. A top-down approach by healthcare providers can also drive the adoption and uptake of precision medicine.
This championing needs to be led by charismatic people who believe in the subject and can communicate directly and in simple terms to consultants who are ultimately requesting the tests, says Tessa Homfray. Such “evangelists” do not necessarily have to be geneticists but can be anyone within a specialty that possesses a real understanding of the diseases and molecular mechanisms. Scientists are key and may offer this leadership as well.
Vendors play an essential role in facilitating the use of genomic information
Vendors can provide support through webinars and conferences, educational resources and training, says Nick Lench. Anything that will help physicians learn more about genetics and the possible tests available is useful, adds Miriam León Otegui: congresses, online courses and a direct vendor-to-physician relationship until doctors are educated on all the industry has to offer that could benefit their patients.
Tessa Homfray agrees that vendors play an essential role. As they develop improved interpretation software, they have to make sure that this is available to the laboratories and that they communicate the advantages of such improvements. She thinks that there may be a place for vendors to be directly working with the pharmaceutical companies – not only to help develop new drugs but also help in the process of testing the drugs developed.
According to Andrea Haworth vendors can provide quality, confidence, and transparency. They should work with diverse customers, be interactive and listen to them.
Michel Phillips also believes that vendors can play a big role in helping to facilitate the use of genomic information in healthcare by providing improved quality and consistency of results, faster turnaround times, better interpretation and reporting tools. The use of more optimal tools, produced by industrial partners, will result in better detection, interpretation and guidance for the clinician which in turn will result in better patient treatment and outcomes.
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