CHICAGO (GenomeWeb) – As part of a large-scale clinical genome sequencing effort, the HudsonAlpha Institute for Biotechnology is researching whether a secure website will encourage people to provide more detailed family histories and save clinicians time compared to more traditional methods of collecting patient intake data.
The study is part of SouthSeq, a federally funded five-year, $10 million program to sequence the genomes of newborns with birth defects or other signs of genetic disorders that Huntsville, Alabama-based HudsonAlpha is conducting in conjunction with the University of Alabama at Birmingham School of Medicine and the University of Mississippi Medical Center.
SouthSeq, a National Institutes of Health Clinical Sequencing Evidence-Generating Research (CSER2) Consortium study, expects to enroll 1,500 newborns, particularly from underserved populations in the South, including African American families and families who live in rural areas.
Specifically, HudsonAlpha is trying to measure how much work the parents of these newborns actually do when provided access to Genome Gateway, the institute's online communication platform for patients, providers, and researchers. HudsonAlpha also wants to find out if the Genome Gateway can help non-geneticists better understand sequencing results, allowing neonatologists, nurse practitioners, and others to offer more complete care.
"We'd like to see if a neonatologist and nurse practitioners in the neonatology unit, if equipped with the appropriate [patient and family] background, can begin returning results of whole-genome sequencing in a way that is consistent with the way a genetics provider would," said Adam Hott, HudsonAlpha's clinical applications lead.
It would also have to be in a way that parents of babies in the NICU could understand, Hott noted.
"How does using an online system like Genome Gateway for communication aid in that process? Is having the educational material at hand for the providers whenever they need it beneficial?" Hott wondered. "The same goes for the patients. Do they come back to it? Do they look at their results? Do they download their results from Gateway?"
HudsonAlpha will be trying to answer questions like these over the next five years. So far, though, just 50 patients have been enrolled since recruitment started in the summer. "We're still very early in this process and we still have a lot of questions to answer and data to gather," Hott said.
Early, anecdotal results are promising, though. "It certainly seems to be saving time and energy from a data-transfer perspective amongst the providers at our various sites and our analysts that are here at HudsonAlpha," Hott said.
HudsonAlpha actually has made Genome Gateway available to all patients and families that come into the organization's Smith Family Clinic for Genomic Medicine. The website has been a centerpiece of HudsonAlpha's clinical genomics strategy from the beginning.
Hott said that since the advent of the Smith Family Clinic in 2015, the plan has been to provide meaningful education to patients about their health conditions. "We were talking about genomics, and genomic medicine, which many of our patients are unprepared to understand the science or even what those tests can and can't offer," Hott recalled.
"We started thinking about the ways in which we wanted to educate, and we kind of all agreed that probably the best way to do so was in some sort of online format," he said. "But we needed to be able to customize that learning to an individual patient to tell them [based on] what their results were or what they were looking at, what their likely diagnostic road would be," Hott explained.
That would require a platform with HIPAA-grade security, which can be expensive, so HudsonAlpha decided to make Genome Gateway suitable for more than just patient education. "If we're going to invest in hosting on a HIPAA platform, are there other things that we could do with this tool if we could? What's the ideal?" Hott asked.
"We started talking about ways to save patients time in the clinic, which would include essentially delivering all forms that a patient would need to fill out prior to their first visit with the clinician … [and] being able to provide some basic family history to the providers before they ever showed up at clinic," Hott said.
This is exactly what any hospital or physician practice would want, but Hott said that this might be more important for genomic medicine because the family history is so central to genetics.
In building Genome Gateway, HudsonAlpha always considered its decisions from the point of view of patients, or, in the case of NICU and other pediatric departments, the parents. Hott said the organization went with a simple user interface to encourage interaction and repeat usage.
But HudsonAlpha didn't want to restrict the site to patients. "There was always this idea in the back of our minds that if we were building this robust platform, couldn't it be used for research in some way?" Hott recalled. "If we were to use this in clinic in a meaningful way, what would the provider need?"
So Hott and his colleagues added tools to Genome Gateway for care providers to view and export digital family history forms and related patient questionnaires.
About two years ago, HudsonAlpha started exploring whether Genome Gateway could help with research studies. "Now, Gateway has evolved with a whole other set of tools that link in researchers in a way that patients can input information, physicians can input information, and it can be deidentified … and then put into a data dump that can be used in analysis," Hott said.
While other healthcare organizations have long struggled to get patients to use similar portals, Hott said that HudsonAlpha has topped 90 percent adoption among its patients and their families. Some of that is related to the fact that a specialty facility like the Smith Family Clinic sees far sicker — and more motivated — patients than a typical physician practice or hospital.
Hott also credits the clinic's front-office staff for encouraging Gateway use. "This is the way we collect information from patients," he said, unequivocally.
In a presentation to the American Society of Human Genetics in 2017, Hott said that Genome Gateway shortened clinic visits by 45 to 60 minutes and helped boost the rate of pre-visit patient engagement with educational material to nearly 70 percent. It also improved patient satisfaction.
The educational material is multimedia, including text, animations, video, diagrams, and infographics, according to Hott. Genome Gateway also is capable of supporting telemedicine. However, HudsonAlpha does not use telemedicine in the clinic because the organization sees some ambiguities in current Alabama law, Hott said.
The time savings, which is based on reports from clinicians who are using Gateway in the Smith Family Clinic, come primarily from reduced wait times when patients would otherwise be filling out history and survey forms in the waiting room, as well as from educating patients.
"What we find is that patients who begin their family history and fill that out for our clinicians ahead of time — because the tool generates a pedigree automatically for them — our providers now have a pedigree to begin with," spending less time asking basic questions and devoting more time to more detailed questions, Hott said.