At Sema4, transforming healthcare is our primary mission. We believe that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease. Our work is based on building dynamic models of human health using Centrellis, our innovative health intelligence platform, to generate a more complete understanding of disease and wellness.
These concepts were central to the ASRM panel discussion, which included Jaime Shamonki, MD, from California Cryobank Life Sciences; August Calhoun, PhD, from Change Healthcare; and Lisa Edelmann, PhD, Alan Copperman, MD, and Kareem Saad from Sema4. The speakers had a lively discussion about big data, variant interpretation, and helping patients all along the reproductive health journey.
Saad, who moderated the panel, set the stage for a conversation about big data in medicine. “There’s a lot of value locked in information that isn’t currently being optimized today,” he said. “Using that information to drive better clinical outcomes — better economic outcomes, even — is clearly the opportunity we have in the industry.”
Big data, said Calhoun, powers new insights that are not obvious without massive amounts of information. “Those insights could be driving early intervention, those insights could be driving understanding risks in pregnancy, those insights could drive better medical decisions,” he told attendees.According to Copperman, the real value of that data comes from its actionability. “We are getting this robust dataset, this multidimensional data that can prevent bad outcomes,” he said. “We can change the trajectory of entire populations, from one that heads toward sickness to one that heads toward health.” Expanded carrier screening was also an important theme in the discussion. Speakers agreed that these kinds of tests are now the standard of care. “This has transformed the whole conversation with the patient,” Copperman said. “When I started practicing reproductive medicine, it was, ‘Are you positive for a mutation for cystic fibrosis?’ and now it’s, ‘Let’s do a pan-ethnic expanded screening panel to figure out what diseases you and your partner are at risk of passing on to your children.’” He noted that as carrier screening expands to cover ethnicity-based markers, the burden will no longer be on patients to identify their own genetic heritage; this means more accurate results will be possible by relying instead on each person’s genome. “That’s the beauty of personalized medicine,” he added.
Indeed, assessing risk in the context of population-specific genomic markers is a major step forward in carrier screening. “The most obvious example of how large data sets have transformed genomic medicine is in publicly available databases, where the frequencies of individual variants in the genome are categorized by what ethnic group they’re found in,” said Edelmann. This allows scientists to “more accurately classify variants based on their pathogenicity,” she added.
Edelmann also noted that the number of genes covered by carrier screens will continue to grow. “If you want to get to a situation where you’ve got greater than 95% detection, you actually will need to go to thousands of genes and really look at all of the Mendelian conditions,” she said.
The discussion ultimately crystallized around using a patient-centric approach to guide testing options. “People come to us in a preconception planning stage and we realize now, through interacting with these clients very early on in their journey, we can identify what are the specific services that [they] may need,” Shamonki said. “It’s more about connectivity and the journey for a client rather than segmented individual services.”
In other ASRM news, we announced the launch of our Expanded Carrier Screen with Personalized Residual Risk, one of the most comprehensive and highly accurate carrier screening options available. All of our carrier screening panels, from single gene to 502 genes, will now include Personalized Residual Risk analysis of patient-specific ancestry markers to improve the accuracy and reliability of the results. Future versions of our expanded carrier screen, delivered via exome sequencing, will include thousands of genes deemed clinically actionable. Learn more about our women’s health portfolio.
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