I had the privilege of moderating a panel at Datapalooza – the annual gathering of hundreds of leaders in health data innovation — that focused on innovations in genomic science, which are rapidly spurring discoveries in personalized medicine. Clinicians face enormous challenges in keeping pace with evolving best practices in data management and implementing these technologies into routine care. The panelists focused on how genomic sequencing could be utilized with today’s healthcare information technology infrastructure, and the most effective way to do so.
Keith Stewart, the Carlson and Nelson Endowed Director of the Center for Individualized Medicine at the Mayo Clinic, where he is also a professor of medicine at the Mayo College of Medicine, discussed the importance of understanding genomes. He said that 24 percent of people who have their genes sequenced discover new medical findings. Utilizing this information can lead to more precise treatment. Personalized treatment means that patients have the capability of finding out which drugs will give them more or fewer side effects, and which will be more effective overall. Different people react to drugs in different ways, and this advanced knowledge can significantly increase quality of life for those who would otherwise suffer from severe side effects. Dr. Stewart questioned how genome sequencing results can be stored in a way that they can be easily referenced for treatment. Mayo Clinic, he said, is working on a way to bring genomic sequencing directly to the consumer, without the need for a doctor as a middleman.
Emma Huang, associate scientific director for Janssen research and development, said that the entire health continuum — from prevention to interception to cure — can be pushed forward by genomics. Models are being developed for integrating genomic data into predictive models in real time. What the system is lacking is the deep data collection at a population level in order to predict with greater accuracy. There are currently global initiatives linking human genetics and clinical phenotypes. Ms. Huang specified that data needs depend on the stage of a patient’s health. She declared that insights from genomic data need to be available and easily interpreted by patients to achieve results.
A major implementation barrier involves data transfer, flow, and interconnectivity. Genomics data is rarely generated, analyzed, interpreted, and clinically implemented in the same system. Mark Dunnenberger, PharmD, program director of pharmacogenomics at NorthShore University HealthSystem, said genomic data needs to be integrated into the system for true value and should be used alongside clinical data. NorthShore opened the first pharmacogenomics clinic of its kind in 2015, and has recently expanded the offering with an at-home testing program, MedClueRX. Electronic health records were not built to handle the huge volume and complexity of genomic data, and the current method of saving patient information as pdf files does not provide discrete data and tends to get lost in the system. Pharmacogenomics helps clinicians choose between therapeutically equivalent treatments that benefit unique individuals in varying ways. Patients grasp the value of pharmacogenomics, Dr. Dunnenberger said, and are willing to invest money regardless of whether it is covered by insurance.
As our nation’s efforts to bring precision medicine the forefront of clinical care accelerate, we must take care to ensure we incorporate this data in ways that will be usable for clinicians and valuable for patients – without creating additional uncertainly or unsustainable costs. As is often the case, HLC members are forging a path forward for others to follow.