Genomics in healthcare: How systems are using the data and whether there is a cause for concern

Laura Dyrda (Twitter) - Print  | 

Genomics certainly isn't new to healthcare, although it is now becoming a larger part of a healthcare provider's strategy to deliver the best care possible to patients.

Several health systems across the country have entered into high profile partnerships in the past year to incorporate genomics into their patient information, while others that got an early start have mature data systems bringing them closer to precision medicine and predictive analytics. While the potential benefits of more personalized care, early disease detection and customized medication to avoid side effects is alluring, there are also potential risks if the information isn't managed appropriately.

Genomic partnerships at Mayo, Sanford and NorthShore University HealthSystem
The start of 2020 has also heralded three major genomics partnerships. On Jan. 9, Mayo partnered with Helix, a California-based genomics company, to develop a genomic database that could help physicians and researchers discover health conditions. The system plans to recruit 100,000 patients for its study, which examines 11 genes that are signals for hereditary medical conditions such as breast cancer and ovarian cancer, familial hypercholesterolemia and Lynch syndrome. The purpose of the study, dubbed the Tapestry study, is to understand the impact of data sequencing in a large population of patients.

"We want to understand the particular forms of cancer-targeted disease for prevention, but also to be able to go beyond that to understand other risks for recurring diseases and how this can impact the care we provide to those patients," said Konstantinos Lazaridis, MD, a consultant to Mayo's department of medical genetics and a participant in the study.

On Jan. 10, Sioux Falls, S.D.-based Sanford Health partnered with population health company Color to scale the health system's existing Imagenetics program, which has the goal of integrating genetic medicine into preventative care. Sanford will use Color's next-generation sequencing technology and population health platform while providing insights for clinicians.

On Jan. 13, NorthShore University Health System in Evanston, Ill., completed an initiative with Color to bring clinical genomics to 10,000 patients. The partners aim to provide clinically actionable information to those individuals, and throughout this year will upgrade their genomic testing to include risk information for additional health conditions.

Color reported a $75 million funding round for investors last week, signaling growth. Alicia Zhou, PhD, vice president of research and scientific affairs at Color, said the company aims to change the conversation around genetic testing as something for hobbyists or individuals with rare conditions to a tool that everyone can use to proactively manage and prevent disease.

"To make preventative genomics possible, there needs to be a continued focus on delivering clinically actionable information in the hands of the people who can drive more informed care, and more importantly, doing it at scale to inform broader population health outcomes," she said. Color is building custom, precision health solutions for Jefferson Health in addition to NorthShore and Sanford Health, as well as employers like Salesforce and Levi's. Dr. Zhou sees genetic information driving more accessible and cost-effective care as well.

"Too many people lack access to routine care, and in some instances, this can cause less expensive health issues to escalate to much more severe conditions," she said. "Or, in clinical research settings, there is a significant discrepancy in the percentage of underserved and/or minority populations tested, which can lead to misleading or dangerous interpretations of genetic variants found in other populations. Comprehensive genetic testing can change all of this. By integrating genomics into primary care and research initiatives at scale, and focusing on inclusivity and equity, everyone will have the opportunity to access information that can lead them to more informed care and better health."

Renown's community-based approach
There are some health systems that have been working with genomic information for years now, and Renown Health in Nevada put an interesting twist on the typical health system initiative by searching beyond its network to benefit the community. Renown is behind the Healthy Nevada Project, a community-based population health study, with a component that includes gathering genetic information and environmental factors that affect health. Renown CEO Tony Slonim, MD, heads the project, which he hopes will lead to more effective public health planning and initiatives. The project is differentiated from other similar projects because it's focus is on enrolling people instead of just patients.

"Health systems should be partnering to work together [with other companies and organizations] on this issue," said Dr. Slonim. "With the Healthy Nevada Project we learned so many lessons over the course of nearly three years of the project that we would like to share with others, so they don't make the same mistakes as we did when we were learning. In addition, collaborating provides broad-based thinking on how the data should be protected and used to assure that we don't put people at risk."

Dr. Slonim acknowledged the personal nature of an individual's DNA and takes seriously his role in keeping their identity safe. He is also open to transparently sharing roadblocks the project faced with other organizations seeking to do something similar in their communities.

EHR integration and patient data safety
The newest trend is now seeing how genetic data can integrate with clinical data that exists within the EHR, says Jacob Krive, PhD, clinical associate professor of biomedical and health information sciences at University of Illinois at Chicago and a clinical analytics leader at NorthShore University HealthSystem. "Most of the time, patients see their provider, who is not trained in genetics or understanding the implications of genetics in patient care," he said. "Their knowledge of genetics is more theoretical, and for the most part they don't know what to do with that information. Some primary care practitioners believe in it, others feel completely the opposite."

Incorporating the genetic testing into the medical records can improve precision and personalized medicine and incorporate that information directly into patient care. The other challenge is integrating that information into the analytics side of healthcare. "It's a challenge to embed the genetic data into predictive algorithms because most of those algorithms make recommendations on clinical data from patients. They aren't prepared to incorporate specific genetic data," Dr. Krive said.

Housing genetic information requires a great deal of storage space, which makes it expensive, and most healthcare organizations use data models and data storage models that aren't easily adapted to genetic data. The organization then needs to ensure the right individuals are digging into the data to interpret findings. Dr. Krive said health systems would need a team of bio informaticists to dive into the genetic data and manipulate it so care providers could put it to good use. He said UIC is moving in that direction, but is not there yet.

"Even the most progressive organizations out there with academic institutions and community care institutions do not have the capabilities for personalized medicine," said Dr. Krive. "They are looking for new models for storing and manipulating the data."

In addition to the practical questions, health systems are also dealing with the security issues of collecting and storing the genomic information responsibly. Many organizations have entered into partnerships to manage that data, but will still need to be transparent with patients about how their information will be used.

"We don't want to rush into quick partnerships that are questionable," said Dr. Krive. "We don't want to get into lawsuits that high tech and health systems are in by moving a little too fast before ensuring the privacy mechanisms are in place. But I'm all for progress as long as we do it securely and with patients' consent."

He argues that consent in this case needs to go beyond checking a box on a form to indicate the patient understands how their information will be used to clearly educate the patient. Dr. Lazaridis said that within the Tapestry study at Mayo, patients are clearly educated about consent to have the data integrated with their medical record. Dr. Lazaridis said one of the advantages Mayo has in moving forward with the data sequencing project is a lot of phenotypes in their records.

"Everything that goes in the EHR is private information," he said. "We treat the genetic data as all the rest of the information we have for our patients, whether this is a biomedical test or family history knowledge. We pay it the same attention because it's clinical information, and that is the strategy and philosophy of Helix, our partner in the project."

For the Tapestry study, Mayo investigators as well as Helix will have access to the sequencing data as partners in the collaboration. However, Helix will receive de-identified data.

Dr. Zhou underscored the importance of treating genomic information as health data and returning results to patients with the appropriate context to understand the findings. "All information that touches the genomics platform should comply with the most strict privacy and security standards. At the very least, it should be HIPAA compliant," she said. "It should also be returned to patients in an approachable way."

The ideal future for genomics
UPMC Chief Clinical Analytics Officer Oscar Marroquin, MD, is bullish on the future of using data for genomic purposes. The health system launched the UPMC Genome Center in June 2018 and has an Institute for Precision Medicine dedicated to biomedical research and personalized care.

"There is an explosion of availability of genomic and other omics data that will allow us to inch closer to personalized medicine," Dr. Marroquin said in an interview with Becker's. "In order to truly deliver personalized and precision medicine, besides being able to generate and consume omics data, one has to have robust capabilities to deal with a large amount of phenotypic data, which includes data that lives in the EMRs, imaging data and data from other modalities that are becoming more common and viable. In the future I see the integration of all of these data sources as being a big area of focus for data analytics."

The ability to collect and integrate genomic data into the patient's medical records and treatment plans have clear advantages. Physicians are already using the information to help detect the possibility of breast cancer or match patients with medications based on their risk for adverse reactions. Most physicians understand the limitations of genomic information and are upfront with patients about what they can and cannot glean from it.

In an ideal future, genomic information could be incorporated into everyday care in conjunction with other data, including family history and social determinants of health, to develop an individual health profile.

"With the addition of genomics, physicians will have so much more information than physical symptoms and imaging, they'll know every actionable genetic variant for every patient. This means they’ll be far ahead of the curve on preventive care," said Dr. Zhou. "Hopefully, this also means that patients who need to take action to, say, get screened for diabetes, start a PCSK9-inhibitor or monitor their risk for a certain cancer will be able to do so much earlier than is typical today. In an ideal world, this type of early detection through advanced genomics will save many lives and help move the actionability curve from late-stage diagnosis to early-stage cures and preventions."

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Dr. David Feinberg says 'we're super proud' of Project Nightingale with Ascension
How UPMC manages 60+ petabytes of data to proactively approach patient care

 

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