Phoenix-based Banner Health has been a leading participant in President Barack Obama's Precision Medicine Initiative and the All of Us Research Program that has grown from it, which seeks to assemble a million-person cohort to help speed genomic insights.

Another National Institutes of Health project on which it has taken the lead is GeneMatch, a national initiative that helps recruit participants for Alzheimer’s prevention studies, does genetic testing to match volunteers with various research opportunities and helps scientists nationwide find a quorum of qualified participants for new studies.

Jessica Langbaum, BAI's principal scientist Jessica Langbaum points out that 80 percent of research studies don’t complete enrollment on time, because they can’t recruit enough volunteers.

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The focus here is one specific gene, the ApoE gene, "which is the best-established risk factor for the form of Alzheimer's that strikes at older ages," said Langbaum. "And the reason this was so needed was that there's a number of Alzheimer's prevention studies that are underway or in various stage of planning that are looking for healthy individuals who are at increased risks for developing the disease."

GeneMatch, she said, "has proven to be a game changer for us as a way to accelerate enrollment and better match people to clinical trials. It's proving to be a very efficient way to find those who are eligible and match them to a study faster."

In October, Banner Alzheimer's Institute partnered with Vantari Genetics, a company that conducts clinical diagnostics and esoteric genetic testing, and Translational Software, which uses a FHIR-based API to help deliver genomic-based clinical decision support at the point of care.

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The aim is to provide genotype testing, actionable genomic information and custom reporting for BAI's GeneMatch registry: Vantari Genetics and TSI will work together to provide ApoE testing and interpretation of volunteers' cheek swabs.

The genomic and molecular data from those tests will help offer specific insights into the genetic variants of volunteers, helping BAI identify study participants at varying degrees of genetic risk for developing Alzheimer's to match them to available research studies.

"This is a case of a foundation leaning forward to make long-term progress on a critical disease," said Translational Software CEO Don Rule.

"Working with Banner Health is a wonderful opportunity to demonstrate the ability to customize workflow and scale for the tremendous sample volume in a contract research setting," said Shaun Opie, chief scientific officer at Vantari Genetics, said that seeing a new drug approved for treating of Alzheimer’s disease would be an exciting outcome. “It would be truly thrilling if it were supported by clinical trials that enrolled patients genotyped by Vantari Genetics."

For that to happen, a lot more needs to be done with research and clinical trials, which requires clearing some big hurdles – notably technology, financing and human factors.

"Very large population studies are becoming increasingly common, particularly in single-payer healthcare systems such as Europe," said Opie. "But while physicians and consumers want the health and economic outcomes data, the number of insurance providers and electronic medical records – few of which are well connected – makes obtaining the information difficult. Absent support from national initiatives, it will be the large, self-insured systems that will drive this kind of research as they seek to control cost with evidence-based medicine."

From Banner's point of view, the establishing GeneMatch was no easy task, particularly with regard to health information technology, said Langbaum.

"Creating GeneMatch was a massive undertaking from the IT infrastructure and having the proper security measures in place to enroll people and have everything HIPAA compliant," she said. "There is no off-the-shelf solution for what we do, it all had to be custom developed. As well as the link to the genetic laboratory we're working with."

That's one of the ironies: Even as the insights derived from the Human Genome Project and Precision Medicine Initiative are more tantalizing than ever, these are very costly programs to launch from an IT standpoint.

"Only those who have the resources to develop these programs are able to move forward, even as the cost of genetic testing has gone down in recent years," said Langbaum.

But investing in interoperability and robust security protections for clinical trials is absolutely essential, she said, given the deep qualms many potential participants have about sharing their most personal and sensitive data.

"People have concerns when their genetic information is being used in a research study," said Langbaum. "People have very big concerns about privacy, confidentiality, insurance discrimination, employment discrimination, you name it. But for precision medicine to become a reality, we need research participants."

Twitter: @MikeMiliardHITN
Email the writer: mike.miliard@himssmedia.com