Many have asked the question: When are we going to realize the promises of sequencing the human genome?
Some argue the benefits are here. Others say not much has changed for healthcare consumers and patients. Some have invested in pharmcogenomic programs in the clinic, while there remain pharmacists who say the evidence still isn’t there. Patients see advertisements for cancer services that utilize genetic testing for targeted therapy, while others still claim most cancer patients don’t see any benefit.
We are in a period of both confidence and uncertainty, enough evidence and not enough evidence; let’s move forward with expanded testing and let’s only adopt a few tests, promises and warnings, a cost benefit or just increased cost.
Investments in Genomics Advances
In spite of the controversy, billions of dollars in investments are developing more products and services directed at healthcare consumers. This already includes direct-to-consumer genetic and genomic testing.
The precision medicine initiative is emerging as a high profile effort in genomic research and encourages patient-directed data ownership and sharing. It will be a major driver in building awareness and demand for genetic-based clinical services.
Tools from vendors—that range from biomarker and drug discovery to the clinical knowledge of diagnosis, risk assessment, and clinical meaning—are working toward advancing genetic-based care and realizing greatly improved outcomes.
Amidst this debate, many are committed to moving ahead to find clarity and the right path forward. In increasing numbers, people with day jobs are participating in mostly volunteer organizations to define and complete demonstration projects that prove both clinical utility to healthcare providers and significant value to patients.
Progress in Genomics
Internationally-focused organizations—like the Global Alliance for Genomics and Health (GA4GH), the Global Genomic Medicine Collaborative (G2MC), and US-based activities like the Genetic Alliance, the National Academies DIGITizE action collaborative, NIH grants like IGNITE and eMerge, and HL7 clinical genomics and Fast Healthcare Interoperability Resources (FHIR®)—are all making substantial progress. And there are many more related and critical activities I haven’t listed. Not only do we need to coordinate these activities, but we also need to bring together the diverse stakeholders in academics, research, technology, and national and global policy to see the vision move forward as well as how we’ll get there together.
HL7 Genomics Conference
With cancer as a focus, the next HL7 Genomics Conference Summit will be held October 26-27 in Washington, DC. This event seeks to make the above vision a shared and achievable goal.
I know. We haven’t even touched on the rest of the stuff yet: proteome, epigenome, microbiome, etc. Now there is the excitement around gene editing with CRSPR and its health-altering promise of medical cures. People are going beyond apps and talking about life code.
Breakthroughs will happen. Progress will continue until our medical records are based on our complete molecular profile. The speed and efficiency of bringing this to pass will depend on how smartly we come together. We can chose to be the ones that wait for all problems to be solved before we adopt anything, or we can be part of the few that are committing everything—even under uncertainty—to bring these promises to life.
Let's meet at the summit. The view will be breath-taking.