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August 17, 2021
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Prevent diabetes misdiagnosis, mismanagement through precision medicine

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Precision medicine via genetic testing and family history can reduce uncertainty in diabetes diagnoses and allow more targeted therapy, improving patient-centered outcomes, such as mental health and quality of life, according to a speaker.

“A common example of precision medicine in diabetes care is to tailor diabetes medications based on genetic testing for monogenic diabetes,” Julia Blanchette, PhD, RN, CDCES, a postdoctoral research fellow in integrated diabetes management at the University of Utah College of Nursing, told Healio. “However, precision medicine goes beyond one classification of diabetes and has the potential to be applied to type 1 and type 2 diabetes treatment as well.”

Genetic researcher Adobe
Source: Adobe Stock

Growing data show that there are likely many types of diabetes beyond the type 1 and type 2 classifications, Blanchette said during a virtual presentation at the Association of Diabetes Care & Education Specialists Annual Conference. Preventing misdiagnosis and mismanagement of diabetes can reduce frustration and diabetes distress, and allow more effective treatments, she said.

Julia Blanchette

“We can also use pharmacogenetics here, which focuses on identifying which patients are most likely to benefit from a drug or which are most likely to avoid adverse effects based on one’s pharmacodynamics and pharmacokinetic responses,” Blanchette said. “There are also polymorphisms in drug targets that can affect therapeutic outcomes.”

Treatments can also be tailored to avoid adverse effects, Blanchette said.

“We can use precision medicine database generation programs that look at genetic, biomarker, environmental and behavioral data, and we can develop diabetes classification models that simplify the treatment regimen and provide the best combination of efficacy and unlikely adverse effects,” Blanchette said. “Further down the line, we can also simplify treatment regimens by using medications that fit that profile and reducing the number of medications that one is [prescribed].”

Genetic testing offers many advantages for disease management, though it currently comes with several barriers, Blanchette said — cost of genetic screenings can run about $4,000 when not approved by insurance.

“When you get into genetic testing, the lab draws and then the genetic interpretation can be costly out of pocket; however, with prior authorization, insurance coverage usually happens, and it is continuing to expand,” Blanchette said. “The cost for out of pocket has decreased significantly, even in the past 5 years alone.”

When genetic testing is out of reach, providers can also use biomarker testing, such as type 1 diabetes autoantibody testing, to help identify disease risk, Blanchette said.

“We can even use these tests at home these days,” Blanchette said. “These are very affordable options, at only $40 to $50 out of pocket.”

Ethnic bias is another challenge with genetic testing beyond diabetes; in 2009, 96% of all genomic studies were among European populations. That number fell only slightly by 2016 to 81%, with primarily Asian groups making up the underrepresented populations, Blanchette said.

“The reason this impacts precision medicine in diabetes specifically is that diabetes phenotypes can vary, especially among different ethnic backgrounds,” Blanchette said. “Right now, this data may not be widely generalizable due to a lack of heterogeneity.”

Many people from historically marginalized groups are rightly concerned about providing genetic data because of a long history of violations of trust, Blanchette said. To increase diversity in genetic data, Blanchette said, researchers must “cultivate trust” by developing relationships with marginalized communities; engaging concerns about risks, stigmatization and discrimination; and integrating participants’ values and expectations.

“Precision medicine has significant potential to better the lives and care of people living with diabetes,” Blanchette told Healio. “We need to continue educating diabetes clinicians and people with diabetes about the benefits of precision medicine in diabetes, to continue research, and to reduce health care disparities and cost as barriers to wide implementation.”