Innovators have bestowed upon the world powerful tools for advancing precision medicine – including genomic sequencing, electronic health records, artificial intelligence, and wearables – but how do we put them to work?
Two NIH researchers have articulated a powerful, informative answer to that question in a detailed commentary, “Precision Medicine in 2030 – Seven Ways to Transform Healthcare."
Despite recent medical advances, including breathtaking success in developing vaccinations, “COVID-19 has highlighted the need for precision medicine to move further and faster,” the authors write in the piece published in the journal Cell. We support that vision by supporting the precise human biospecimens that researchers need to conduct precision R&D that gives rise to precision medicine.
The authors, Joshua C. Denny and Francis S. Collins, dive deep in 3,000 words to explain how medicine must focus efforts on:
- Huge longitudinal cohorts – National biomedical database efforts like the UK Biobank and All of US aggregate hundreds of thousands of patients’ data on genes, lab results, and lifestyle to glean insights and biomarkers that could never be extracted from smaller samples. There are ongoing efforts to open the data to researchers, standardize it for better sharing, and pool the initiatives into a super pool. “The International Hundred Thousand Plus Cohort Consortium has brought together more than 100 cohorts in 43 countries comprising more than 50 million participants – nearly two orders of magnitude bigger than the biggest single cohort today,” the authors write. “It would be hard to overstate the impact this work could have on global research efforts.”
- Big data and artificial intelligence – Until recently, researchers have lacked good datasets to analyze. That’s changing fast. “The growth of clinical data (including image, narrative, and real-time monitoring data), molecular technologies (genomics principal among them), and the availability of devices and wearables to provide high-resolution data streams will dramatically expand the availability of detailed phenotype and environmental data not previously available at this scale.”
- Routine clinical genomics – Today, clinical genomic sequencing is typically performed in limited circumstances such as certain cancer cases and rare genetic diseases, they write. And many genomic tests only seek a few genetic markers. “Moving forward, whole-genome approaches will become a routine early step in understanding, prevention, detection, and treatment of common and rare diseases.”
- Electronic health records – In one study, the authors note, participants’ EHRs had an average of more than 190 clinical notes, 14 radiological studies, and more than 700 lab tests over an average of about 8 years of follow-up – information that, combined with routine genomic sequencing, would constitute decades of data for fruitful research.
- Diversity and inclusion – More patient diversity in research studies would enrich discovery, address disparities, and yield risk stratifications that are more helpful than race. Eighty-six percent of clinical trial participants are white, the authors report. More diversity in the life sciences workforce would be expected to deliver better research.
- Phenomics and environment – New sources of patient data include wearable devices that can track oxygen saturation, heartbeat, physical activity, and environmental exposures, and new data linkages with grocery stores and restaurants provide new information on diet. “Since the vast majority of a patient’s life is spent outside the health care system, integration of wearable devices and other patient-provided information would augment the EHR and enable greater telehealth capacities, experienced first at scale during COVID-19,” the authors wrote.
- Return on value – In exchange for giving up their data for the cause of precision medicine, participants would appreciate something tangible in value in return. All of Us participants get generated research data such as genomics or COVID-19 serology results.
This commentary, in addition to being great read, indirectly highlights the value of human biospecimens, which are always needed for genomic sequencing and lab tests. Every biospecimen contains valuable data, as we see in this article, and data drives precision medicine. Thus, we will do everything we can to put it in researchers’ hands.
Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products and COVID-19 samples. You can join for free and creating a login is easy. Request a quote or custom collection today.