The Standard

Document defines precision medicine use cases, supporting underlying
foundations for genomics in FHIR

This week, we published the HL7 Domain Analysis Model: Clinical Genomics after a rigorous ISO/ANSI-compatible balloting process. The document is part of an ongoing effort by the HL7 Clinical Genomics Work Group to identify common workflows and use cases to facilitate scalable and interoperable data standards for the breadth of clinical genomics scenarios. The Domain Analysis Model (DAM) is becoming a widely used reference for clinical genomics, covering a myriad of use cases, including emerging ones such as preimplantation genetic diagnosis, whole exome sequencing, RNA-sequencing and proteomics.

 HL7’s 3^rd annual conference on genomics, February 20-21 in Washington, DC, combines professionals from multiple areas – technologists, academic research and commercial vendors, while mixing in policy and government, all from a global perspective. This year’s theme is Global Clinical Genomics, Artificial Intelligence and Innovation.

 
Climbing the Summit

When surveying the current landscape, I see a host of reasons to be excited about where our little collective of clinicians, researchers, academics, standards geeks, and industry partners sit at the close of 2016. Those who dabble in health informatics and health IT can look back over the last five to eight years and see a real transformation in how care is delivered, and we are on the cusp of doing the same to the clinical research enterprise.

Advances in the coming years

Public policy, with the aid of congressional support and impressive scientific advancement, has laid the groundwork for what promises to be an exciting next few years:

• EHRs are no longer the play toys of academic medical centers, with more than 98% of hospitals and 51% of office-based physicians using EHRs to deliver care;
• Congressional support for efforts like the Precision Medicine and Cancer Moonshot initiatives has reached a fever pitch, which fundamentally shifts conversations from “what is ideal,” to “what can be operationalized”;
• Data storage prices have fallen through the floor and computational speeds have gone through the clouds, with more organizations are leveraging SaaS-based platforms;
• Advances in genetic sequencing and gene-editing technology have changed how we understand and treat disease for generations to come; and
• A cultural shift that integrates patients, families and participants into care and research decision-making.

Reaching summits only to discover more

Now, the experience of wiring our healthcare system has taught us that once we reach the summit of one challenge, we are likely to see the summits of other, more daunting challenges.  This is a natural consequence of progress, which I measure by the complexity of our problems, not a list of our accomplishments. These complex challenges include:

• Continuing the march towards interoperability among different and disparate health IT;
• Identifying clinical utility of ‘omics’ data;
• Integrating useful omics data with routine clinical data; and
• Developing sustainable funding models, supported by data sharing and privacy-related public policies.

 
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.