Aurora-based Children’s Hospital Colorado has opened an in-house genomics testing lab through its Precision Medicine Institute.
The lab enables genomic testing results to be more quickly integrated into patient EHRs, and therefore clinical care, according to a March 11 news release from the hospital.
Children’s Colorado Chief Genomics Officer Alisa Gaskell, PhD, shared with Becker’s how she anticipates in-house genomic testing to effect clinical care decisions both at the hospital level and industry wide.
Editor’s note: Responses have been lightly edited for clarity and length.
Question: What are some of the specific patient outcomes you anticipate to see with the launch of the in-house whole-genome sequencing lab?
Dr. Alisa Gaskell: I anticipate seeing multiple benefits. Firstly, as we are an in-house laboratory that works closely with the clinical teams to ensure access to testing, we anticipate systemizing access and removing barriers. Having such a centralized model will ensure every patient who needs genomic testing will have a clear path to accessing this amazing capability.
Secondly, as the laboratory operations are tightly integrated with the EHR, we have already seen better clinical yield from interpreting the large genomics datasets. We know that genomic data value is amplified when connected with the patient’s clinical attributes and outcomes. Thus, we have focused our genomics build on realizing that potential.
Moreover, the discrete genomic results are now part of the patient chart, making it easier for the providers to find the results rather than searching through the various PDFs associated with the patient record.
Lastly, in the rare disease space, we are aware that today we do not know all the molecular underpinnings of every single disease. However, with a vibrant research community, our understanding continues to grow rapidly. This means that even if we do sequence a patient today and do not find their disease causing mutation, we are positioned to do so as we have built a genomics platform that will bring in new knowledge to make this possible.
Q: How does genomic data guide clinical decisions at Children’s Colorado?
AG: Genomics has already impacted our clinical decisions. For example in oncology, we ensure every new patient’s tumor is assessed with the in-house genomics capability as we have demonstrated that, even when the primary diagnosis is known, the information we get is invaluable to our clinicians and our patients. The results are able to inform on disease progression and/or identifying biomarkers important for alternative treatment decisions if the first line treatment proves to be insufficient or inadequate.
We have seen changes in practice especially in complex disease presentations, where before we were ordering diagnostic tests based on the symptoms we can observe. This would often result in a whole series of tests, prolonging the time to diagnosis. We now have the ability to offer genomics as a first tier test, potentially decreasing the diagnostic odyssey for the family.
The genomic data can also be assessed for fairly common mutations that influence our ability to metabolize specific medications at different rates; this is called pharmacogenomics. We launched the pharmacogenomics program almost simultaneously with the launch of the whole genome sequencing capability.
Q: One of the key advancements of your program is seamless integration with the EHR. Can you walk us through how this integration enhances clinical decision-making?
AG: Genomics is a very complex operation and we have book-ended our operations with very important aspects in the EHR, namely the ordering and the resulting workflows.
Having the ordering aspect of the operations in the EHR means we have streamlined that operation and have pulled in pertinent clinical information about the patient and in some cases family members. In many cases, we need to ship the specimen collection kit out to the family, and by building it into the EHR. That is now visible and trackable to our team.
We have also been discretely resulting all variant types back into the EHR utilizing structured data fields, making the data minable and actionable. The value of this is truly remarkable and can be seen in different medical situations. For example, in oncology, it is not unusual to follow a patient over several years. To have the ability to discretely result and track the evolution of the tumor variant profile is very powerful.
In the rare disease space, where novel treatments and clinical trial recruitment heavily depend on the molecular profile of the patient, having the capability to assess patient eligibility right from the EHR is highly desirable.
Q: Do you see this approach becoming standard practice in pediatric and/or adult hospitals nationwide?
AG: It is actually really hard for me to imagine a world where genomics doesn’t play a key role in our health systems. As a technology that has so many applications ranging from rare disease diagnostics all the way to healthy population screening, there is an application and an implementation that will fit and amplify the hospital systems goal and objectives.
Regardless of the application, I believe the key to unlocking the full potential of genomics is the accessibility to the results. They have to be part of the EHR because only then can they be acted upon by all the providers that might be caring for the patient.
Q: What are the operational and financial advantages of bringing whole-genome sequencing in-house? How should health system leaders prepare for the increasing role of genomics in clinical care?
AG: Genomics medicine is here, and it is here to stay. How organizations adapt to this new paradigm shift in healthcare will vary and differ based on their specific patient population, internal capabilities and external partnerships.
Regardless of how the organization enables genomics, specifically whole genome, there is a strong point to be made about ensuring organizational wide policies to drive access to testing that are in line with the medical recommendations. It is also important to mature the EHR system so as to ensure maximum return on the sequencing efforts by facilitating the patient’s journey through the health system based on their results.
As far as bringing the genomics operations in-house, I am biased and will obviously highlight all the benefits of building this capability internally, such as a highly customized operations that [are] attuned to the organizational needs, streamlined operations across multiple service lines reducing cost and the ability to re-evaluate the genomic dataset either in a continued care model or research.
As Children’s Hospital Colorado has a broad mission of caring for children through coordinated clinical care, research, education and advocacy, having these capabilities internally allows us to fuel all three pillars of our mission. Thus, for us it wasn’t a question of if, but when.
