Evaluating the Benefits and Challenges of Genomics in Healthcare

December 06, 2019 - In recent years, genomics and genetic data have emerged as an innovative area of research that could potentially transform healthcare. This information could accelerate precision medicine, paving the way for individualized therapies tailored to each person.

Studies have examined how genomics could improve care for Alzheimer’s, heart failure, and a number of other diseases, leading to a more personalized standard of treatment.

However, this new source of information could also come with unprecedented challenges. Organizations will need new ways of storing this data, and providers and patients will need to be prepared to handle the answers genomic information could hold.

What are some of the benefits of using genomics in healthcare, and how can the industry overcome the possible challenges that can accompany this information?

Proactive, not reactive, care delivery

Using genomic data, providers can identify patients who are at high risk of developing certain conditions and better plan for treatments. This approach could be particularly helpful in proactively treating cognitive or behavioral disorders before people show signs of disease.

Recently, researchers from The Hospital for Sick Children (SickKids) and the University of Alberta found that testing the DNA of siblings of individuals with autism spectrum disorder (ASD) may be predictive of a future diagnosis even if symptoms aren’t yet apparent.

"Genetic factors are the most likely reason we see a clustering of ASD related traits in families," said Dr. Stephen Scherer, Senior Scientist and Director of The Centre for Applied Genomics (TCAG) at SickKids, Director of the McLaughlin Centre at the University of Toronto and principal investigator of the study.

"We wanted to investigate the possible benefits of genetic testing for infants whose older sibling had already been diagnosed with ASD. If we can identify those children early, we may be able to enroll them earlier in therapies."

In a separate study published in the American Journal of Psychiatry, a team from the University of North Carolina (UNC) at Chapel Hill used polygenic risk scores (PRS) based on genome-wide association studies to improve psychosis risk prediction in patients meeting high-risk criteria.

“Previous studies reported the PRS discriminates persons with established schizophrenia from unaffected persons. Our study is the first to indicate the PRS predicts future psychosis suggesting a PRS may facilitate the development and eventual targeting of preemptive interventions,” said Diana O. Perkins, MD, MPH, a professor of psychiatry in the UNC School of Medicine.

Individualized care that goes beyond the individual

One of the most exciting benefits of genomics and precision medicine is the promise of therapies that are tailored to meet each patient’s specific needs. Providers can access an individual’s genetic code and better determine what sort of treatment is right for him or her, leading to better outcomes and lower costs.

However, genomics also has the potential to improve treatment beyond the level of the individual, boosting health and well-being for entire patient populations.

“If the population health community and the precision medicine community would talk to each other more, I suspect they would find that they have a great deal in common,” Jonathan Sheldon, former Global Vice President of Healthcare at Oracle Health Sciences, said in a 2017 interview with HealthITAnalytics.com.

“Precision medicine gives us the molecular tools to phenotype diseases, which you can then predict and manage at the population level. Genomics gives you that level of precision that is often lacking in risk stratification algorithms. They really enhance one another. They’re not competitive in any way.”

Healthcare organizations have recognized the complementary nature of genomics and population health management. In March 2018, the Healthy Nevada Project, a population health study combining genomic data with socioeconomic, environmental, and clinical information, entered its second collection phase.

The project aims to gather insights about how lifestyle interacts with genetics, improving population health for people in Nevada and around the world.

Genomics could also help researchers and providers uncover why particular conditions impact certain races or ethnicities more than others. A recent study published in the journal Nature showed that a genetic mutation linked to blood sugar levels occurs in one percent of Hispanic/Latino people and about six percent of African Americans, but very rare in people of European descent.

“Our study confirmed that the apparent effects of the same genetic variant often vary across populations,” said Steve Buyske, a senior author and an associate professor in the Department of Statistics at Rutgers–New Brunswick. “A genetic variant with a big effect in people of European descent may have a smaller effect in other populations, and vice versa.”

These findings could help advance precision medicine treatments for entire populations, many of which may be underrepresented in studies and clinical trials.

More data, more problems

Although genomics and genetic data could give providers a more comprehensive picture of patient health, the industry still has significant data challenges to overcome before this information can be used at the point of care.

A March 2018 survey from Oracle and GenomeWeb showed that data management and storage were ranked among the top obstacles organizations currently face when trying to achieve their precision medicine goals.

Additionally, many survey participants who said they had no plans to pursue a precision medicine initiative cited insufficient technical infrastructure as their most significant barrier. Health systems will need to implement innovative data storage and management tools to realize the benefits of precision medicine and genomics.

“The science is changing rapidly every day. Today, there are literally thousands of variants of unknown significance in every patient, and tomorrow some of those variants will be associated with a syndrome,” Joel Diamond, MD, adjunct associate professor of biomedical informatics at the University of Pittsburgh, told HealthITAnalytics.com.

“The industry needs an enterprise technology solution that can keep up with new advancements, as well as recognize when changes occur in a patient's clinical condition.”

Diamond said that organizations should adopt system-wide standards and strategies that make genomics part of a comprehensive solution, as well as adopt advanced technologies like FHIR.

“Even without genetic data standards, organizations should have a genetic data strategy in place,” said Diamond. “Instead of storing this data in PDFs, genetic information can be stored in various files that the organization has right now, in a standard way that allows the data to be usable down the line.”

Patient, provider education

As advanced genetic testing becomes more affordable and accessible, more people will be looking to better understand their health risks. While this could help accelerate precision medicine, providers will need to be sure they’re ready to discuss the results of these tests with their patients.

In 2017, Wamberg Genomic Advisors showed that 16 percent of patients are confused by their genetic testing results, and an additional six percent experienced mild depression or anxiety after reviewing their personal data.

Providers, on their part, may not feel totally prepared to talk with their patients about these results. A recent survey of 130 primary care physicians showed that just 23 percent said they would feel comfortable discussing genetics as a risk factor for common diseases.

Geisinger Health System has recently integrated genomics with routine clinical care, and the organization has made patient and provider education a top priority.

“One of the challenges we've tried to address up front is the education aspect – what the results mean, both on the patient side and the clinician side,” she said. 

“We've developed what we call Just in Time documents that doctors can give to their patients, which say, ‘This is the information that we learned about you. This is what you need to do now given this information. This is what you need to monitor over time, and this is what you need to do long term.’ Anticipating the needs of patients and providers as they get this new type of information is important.”

While there are challenges to leveraging genomics and genetics in healthcare, the potential benefits the information could provide outweigh the barriers. With innovative data storage tools and strategies to educate patients and providers about this new data, health systems could accelerate precision medicine and personalized treatments.