To Translate Genomics to Clinical Care, Get Practical - Vibrent
Blog | April 25, 2023

To Translate Genomics to Clinical Care, Get Practical

By Molly Maple Bryant, Vice President

Integrating genetics testing and counseling into clinical care represents both an opportunity for increased insights and additional challenges. In a recent discussion with Dr. Dan Judge, a genomics researcher and cardiologist, we discussed how genomics can make the leap from research to clinic. 

Our discussion confirmed some important conclusions I’ve had: researchers need to address underrepresentation, train the next generation of genetics counselors, think practically in terms of genetics results as evidence becomes available, and keep participants engaged to realize the ultimate value of genomics research. 

Make sure your participants represent your population 

In highlighting the unique aspects of the In Our DNA SC research project at The Medical University of South Carolina (MUSC), Dr. Judge noted it’s the efforts to capture genetics data that represent the southeastern US. While there have been many genetics studies in the Northeast and West coast of the US, there hasn’t been much effort to study populations in the Southeast.  

He noted that registries continue to come together to form a more complete picture of the human genome and its variation across demographics. And since 26% of South Carolinians are African American, Dr. Judge said, “For us to be successful, we’ll really need to make sure we’re representing that population.” In other words, it’s not enough to get a national picture of population demographics. If a registry or study is operating within a specific region, it should seek to recruit participants that represent that region’s demographic makeup.  

Enrolling underrepresented groups in genetics research is also important because results for these groups at present tend to be more ambiguous. That’s precisely due to the lack of datasets that have adequately sought to include these groups in the first place. So, recruiting diverse individuals is not only critical to study success, but in being able to offer them meaningful results. And in the advancement of treatments that work across all variations of the human genome. 

We must acknowledge, too, the existing mistrust that under-represented populations have with health research. This means that additional work must be done to earn the trust of these participants. 

One way to earn trust: recognize and value the part that genetic counselors play in the patient experience  

Dr. Judge acknowledges that genetics counselors serve a vital role in helping people understand their test results if there is a pathogenic or a likely pathogenic result. A genetic counseling session for the In Our DNA SC participants includes not only explanation of what results means for participants, but what the risk is for family members as well. And the program serves to connect participants with clinicians and resources to help them take action as needed. 

Genetics counselors can at times be in short supply, which is why MUSC has sought to increase hiring of them dramatically. Additionally, starting in Fall of 2023, MUSC will have their first genetics counseling master’s degree program. This effort to address a shortage of counselors acknowledges that the shortage will not be going away anytime soon, and that there needs to be long term solutions to train the next generation of counselors. While hospital systems and academic research centers may not have the ability or the resources to create an academic program, it’s important to address the increasing importance genetics counselors will play in the ongoing study and treatment of human health with long term solutions. 

Use genetic counseling results as an opportunity to educate 

Dr. Judge discussed the practicalities that a genetic counseling session should ultimately address, and how a counselor may address them. For one, he said that everyone has a different level of understanding of genetics. He explained, “It really does start with understanding where people are coming from. Asking them what they remember from grade school, high school, college, or graduate school—or wherever they have exposure to genetics.” For this reason, some degree of education is often necessary. 

Counselors can go through a genetic sequence to explain what the letters and numbers mean, how an amino acid may be substituted or how a stop codon might enter into a DNA sequence that changes how a protein develops. In a genetics study where there are healthy participants with no actionable results, a concept like penetrance (carrying a tendency for a disorder) is important to explain that a result does not mean presence of a type of cancer or heart disease, for example. Explaining the risks as it relates to family, particularly in prenatal family planning is important as well. 

Not all research programs have the capacity to provide counseling to every participant who needs education. Fortunately, digital engagement methods can help – by providing a way to deliver educational content like videos, expert content, and other materials in an on-demand environment for research participants. 

Navigate results with higher certainty thresholds and scripted responses 

Genetics results can be ambiguous, which remains a challenge for clinicians who are integrating genetics testing into their practice. Results can be on a spectrum from very unlikely to almost certainly positive to cause disease. Dr. Judge and his team decided not to release results in their program for uncertain variants. “We draw a much higher threshold for release of results,” he explained. In Our DNA SC targets results for CDC Tier 1 genomic applications, which are conditions that have the highest potential for positive impact on public health based on available evidence-based guidelines and recommendations. 

In being able to set the bar high for high-impact, high-evidence testing, Dr. Judge says his team has been able to create scripted messaging that counselors can utilize to educate patients on the limitations of negative results and the impacts of a positive one. This allows them to more quickly and easily handle conversations, and in some ways to automate the sharing of information when it is ethical to do so. 

To help the translation to clinical care decision making, show clinicians the practicality of genetics testing 

One of the biggest roadblocks to integrating genetics counseling and genetics testing is convincing clinicians of the true value that it holds for their patients. Dr. Judge offered an example he’s seen time and again in his practice. A cardiologist may do a thorough family history to find explanations for an idiopathic condition, such as cardiomyopathy. If they receive a genetic test result to confirm the hereditary basis for a condition, it rules out other testing the clinician may have needed to do to arrive at a diagnosis. It evokes fewer fashionable explanations like COVID-19 in the case of cardiomyopathy. Using genetics testing for this purpose, Dr. Judge said, “changes clinicians, it makes them more comfortable and excited about genetics, in my experience.” 

Another way to effectively integrate genetics into clinical care would be to find ways to save the clinicians time in their encounters with patients. This could be finding ways to prepare the patient to investigate their family history for hereditary disease contributors. Finding ways to engage patients digitally before they come to an office visit may help them to gain more out of their face time with clinicians and to gain the most insight from their genetic results. 

Dr. Judge pointed out that tying genetic data to phenotypic data is critical to integrating genomics testing into clinical care. In Our DNA SC is looking to integrate test results with other lab tests, diagnoses, and various electronic medical record data by importing ICD-10 codes and utilizing natural language processing to translate medical notes into discrete datapoints for their datasets. This kind of technology enables the genetic data to have much more potential to draw correlations between data collected in-clinic and in-study.  

Keep participants informed to keep them engaged 

Beyond CDC Tier 1 applications, In Our DNA SC’s eventual goal is to include a pharmacogenomics component whereby participants receive results around medications that may work better for them for certain conditions. And, as Dr. Judge describes, they will let participants know when new results become available. If clinical panels come along to help test for the presence of more conditions, the research team will inform participants as well as their providers.  

Keeping people informed and giving them a clear picture of the value of the study up front are both important to ensuring participants stay engaged.  

Making genomics testing the new normal means getting practical 

As genomics testing becomes faster and more available, and as genetics testing becomes increasingly applicable in a clinical setting, Dr. Judge’s hope is that it comes a routine part of clinical care.  

Finding solutions that are practical and scalable to care teams remains a big part of the leap of genomics from lab to clinic.   

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