NEW YORK (GenomeWeb) – 2bPrecise, a wholly-owned subsidiary of Allscripts Healthcare Solutions, is working on expanding its platform to include ontologies for pediatric genomic and clinical data that would allow the resource to be used in the context of neonatal care.
Allscripts' 2bPrecise is a cloud-based solution that is designed to help clinicians more easily incorporate genomic information into their routine clinical workflows. It uses clinical-genomic ontologies and data harmonization methods to combine genomic, clinical, and lifestyle information and provides access to this information in a machine-readable and structured format that supports statistical analysis and pattern detection. The platform, which sits on the back end of customers' electronic health record systems, lets clinicians search for relevant information from sources like ClinVar based on their patients' genomic and phenotypic data. It also helps simplify the process of finding, selecting, ordering, and receiving the results of genomics tests, according to the company.
Phillip LaJoie, 2bPrecise's director of operations, mentioned the company's plans to move into neonatal care during his presentation at the HL7 Genomics Conference held in Washington, DC last week. He told GenomeWeb after the meeting that the company is currently working with an unnamed partner to develop and define the necessary ontologies that will enable its system to combine pediatric genomic and clinical data for neonatal care. He also said that the company expects to roll out its pediatrics-specific capabilities sometime next year and that it has begun speaking with some children's hospitals about piloting the resource, although there are no concrete plans in place at the present time.
There are "well over 1,500 rare diseases that are always problematic to identify and any number of children's hospitals that are entering into research stud[ies] [to] further the knowledge of the correlation between genomics and phenotype," he said.
Such research efforts include the National Institutes of Health's Bench-to-Bassinet program, which focuses on understanding the genetic and biological basis of heart defects in children, while another project called the Longitudinal Pediatric Data Resource seeks to build a long-term repository of clinical records for infants diagnosed with genetic disorders through newborn screening tests. There are also efforts like BabySeq, a pilot study led by researchers at Brigham and Women's Hospital and Boston Children's Hospital, that seeks to understand when and how to apply genomic sequencing in the newborn setting as well as to assess the impact of newborn sequencing on families and healthcare providers.
"Knowing that it's going in that area and knowing the importance of trying to build a genomic picture of an individual as early in their life as possible, neonatal is just a natural place to plug into," LaJoie said.
Allscripts launched 2bPrecise in response to a perceived need in the clinical marketplace for tools that would allow clinicians to more easily incorporate genomic information into their routine clinical workflows. By setting it up as a separate subsidiary, the company sought to communicate to the market that this is a distinct offering from the Allscripts Sunrise electronic medical record system, according to 2bPrecise Chief Medical Officer Joel Diamond.
"We didn't want this to be seen as something that serves Allscripts and maybe will serve other EMRs as well," he told GenomeWeb, but rather "this was truly a unique platform." Furthermore, setting it apart frees 2bPrecise to focus on research and development without worrying about competing priorities within the larger company, LaJoie added.
What the 2bPrecise platform offers is a means by which physicians can use more genomic information than the interpreted variant calls provided in their reports. "From 2003 to 2011 approximately 40,000 direct correlations between genetic mutations … and clinical expression were discovered and catalogued" but other than some specific applications in areas such as oncology, "nothing was being done to bring that knowledge, that expertise into the clinical area," LaJoie said. Today more genomic information is used in clinical care, but the details included in current reports while "intellectually interesting" are "absolutely useless and uninterpretable" by most clinicians.
2bPrecise's approach is to bring the genomic data used to create the reports into an ontology that is then "co-mingled" with the clinical information from the EMR, LaJoie explained. "[We] pollinate the two together and extrapolate the intelligence that can then come from that." This makes it possible for physicians to identify patients that likely have familial hypercholesterolemia, for example, earlier on in the clinical interaction before their treatment starts and identify the most effective treatment protocol.
Similarly, by comparing mutation information captured from patients' genetic tests to information contained in the 2bPrecise platform, clinicians can more quickly determine how their patients might respond to a drug and adjust dosing regimens accordingly. So, for example, a breast cancer patient may be prescribed a higher dose of tamoxifen because she or he is a low metabolizer of the drug or might be given a different treatment that the patient is better able to metabolize.
In August, 2bPrecise launched an early-adopter program at the National Institutes of Health for the solution. Physicians and researchers at the National Human Genome Research Institute, the National Cancer Institute, and the NIH Clinical Center are using 2bPrecise's solution to improve patient diagnosis and advance medical research. That effort is still in its early stages but so far is going well, LaJoie said.
"We've only just finished our kick-off meeting for the project, [but] we've got our goals and we've got the deliverables that are expected," he said. This pilot is a good opportunity to put the 2bPrecise platform through its paces because of the wide pool of researchers from multiple NIH institutions that do research and run trials in the context of various diseases, LaJoie added.
"A good number of them have been collecting data in their research capacity for quite some time, so they've got a rather large store of genomic information that they just don't know how to visualize into the clinical setting," he said. "In other words, tak[ing] it out of the lab research area and bring[ing] it into their clinicians who are assisting with these various trials and getting them to understand what it means."
2bPrecise plans to officially launch its platform in January 2017, Diamond said. It plans to market that platform directly to hospitals, clinical centers, and value care organizations, among other customers, LaJoie said. It is also depending on its presence at healthcare conferences such HIMSS and ASCO to spread the word about 2bPrecise and woo new customers.
The company is open to establishing channel partnerships with other EMR vendors but that is not a priority right now. "The various clinical delivery organizations we've spoken to thus far are beyond interested so we don't see a strong need to go through channel partners," he said.
Diamond expressed similar sentiments in his comments. The platform has piqued the interest of at least one unnamed major accountable care organization that is "bullish" on how to build genomics into its payment models and overall business strategy going forward — and there's also interest coming from the behavioral health domain as well.
"We are really trying to make sure that we get traction in those organizations that are just starting to realize that they have this plethora of genomic information coming into their world that they have no idea how to handle let alone make presentable and usable at the point of care," he told GenomeWeb.
In addition to bringing the technology into pediatric care, Diamond also sees room for 2bPrecise in other medical specialties. A primary care doctor by training, Diamond believes that doctors will continue to see more and more patients coming in with whole-genome and whole-exome sequencing results. "It's going to be an onslaught like nothing that we've ever seen before, and that's why I feel so passionately about having an informatics platform to help with this problem."
Some medical subspecialties, like psychiatry, are already embracing genomics according to Diamond, and using it to make better dosing decisions and treatment recommendations for patients, but by and large doctors still struggle with using genomic information in routine care. He believes the key to getting more physicians on board is to focus on showing the value of the information in specific use cases within subspecialties.
The company is still working out the details of its pricing model and is exploring possible price points with early adopters, Diamond said. "One of the things that we are able to do is make sure that people are ordering genetic tests in a responsible and cost-effective way, and we think that will perhaps … have some [effect] on our costing," he said. "We want to be careful in pricing because we don't want to discourage people from using this [technology]."