The not-so-precise side of precision medicine

Two recent studies have highlighted issues related to the reliability of genetic testing, and a lack of genomic data from minority populations.
By Jessica Davis
02:05 PM
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Precision medicine

The launch of the Precision Medicine Initiative in 2015, along with this year's Cancer Moonshot, have touted the promise of genomic data for population health and more personalized diagnosis. As a result, more consumers are seeking genetic testing and more researchers are contributing to these initiatives.

But the healthcare industry isn't necessarily prepared for this shift.

The popularity of genetic testing doesn't come without risks, according to Mayo Clinic's recent report, The Promise and Peril of Precision Medicine.

"Current genetics understanding and interpretation skills of the practicing physician in general ranks far below his or her ability to interpret other tests, such as an ECG," the authors said. "Consumers need to be instructed to not take the results at face value." 

[Also: Medicare wasting $500 million yearly on genetic blood tests, study finds]

Mayo's report analyzed the story of a family whose young son died suddenly. In response, the family underwent genetic testing and 20 family members were told they had a rare condition – including the couple's other son who had a heart defibrillator implanted.

It turns out, the commercial genetic tests were wrong. No one in the family had the rare condition, and the other son didn't require surgery.

The conclusion from Mayo's researchers: The answers found through genetic testing aren't always what they appear, and there are some major flaws with genetic testing, including with whole-exome molecular autopsy.

And when it comes to sudden deaths, researchers found that "genetic testing should not be initiated in any living family relatives unless a clear disease phenotype is present."

Mayo Clinic isn't the only organization finding major flaws with genetic testing and how it applies to precision medicine.

Researchers from the University of Maryland School of Medicine, Johns Hopkins University's Bloomberg School of Public Health and Detroit-based Henry Ford Health System found similar disparities in the application of personalized genomic medicine for health populations with African ancestry, Nature Communications reported.

[Also: Open source software from Pitt, UPMC to speed genomic data sharing]

Currently, these researchers found, there's an inundation of European-based data within clinical genomics – especially compared to minority populations. As a result of these 'ancestry-related biases,' it's difficult to interpret genetic variants in minority groups.

The ability to provide an accurate analysis on whether a genetic variant is responsible for a disease is dependent upon the ability to accurately label the variant as pathogenic. But the accuracy decreases for patients of predominantly non-European ancestry as less is known about variants absent from those of European populations.

"As long as ancestry-related biases are not addressed, and most studies continue to predominantly sample from European populations," the authors said. "The genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations."

Twitter: @JessieFDavis
Email the writer: jessica.davis@himssmedia.com


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