Health Life

New statistical method exponentially increases ability to discover genetic insights

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Pleiotropy analysis, which provides insight on how individual genes result in multiple characteristics, has become increasingly valuable as medicine continues to lean into mining genetics to inform disease treatments. Privacy stipulations, though, make it difficult to perform comprehensive pleiotropy analysis because individual patient data often can’t be easily and regularly shared between sites. However, a statistical method called Sum-Share, developed at Penn Medicine, can pull summary information from many different sites to generate significant insights. In a test of the method, published in Nature Communications, Sum-Share’s developers were able to detect more than 1,700 DNA-level variations that could be associated with five different cardiovascular conditions. If patient-specific information from just one site had been used, as is the norm now, only one variation would have been determined.

“Full research of pleiotropy has been difficult to accomplish because of restrictions on merging from at different sites, but we were able to figure out a method that turns summary-level data into results that are exponentially greater than what we could accomplish with individual-level data currently available,” said the one of the study’s senior authors, Jason Moore, Ph.D., director of the Institute for Biomedical Informatics and a professor of Biostatistics, Epidemiology and Informatics. “With Sum-Share, we greatly increase our abilities to unveil the behind that range from those dealing with heart health, as was the case in this study, to mental health, with many different applications in between.”

Sum-Share is powered by bio-banks that pool de-identified patient data, including genetic information, from electronic health records (EHRs) for research purposes. For their study, Moore, co-senior author Yong Chen, Ph.D., an associate professor of Biostatistics, lead author Ruowang Li, Ph.D., a post-doc fellow at Penn, and their colleagues used eMERGE to

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Opening up about pregnancy and loss

Alise Crutchman had been trying to get pregnant for a few months when she finally conceived in 2017.

For Alise and her husband, Mike, the pregnancy experience was not straightforward. During a doctor’s visit, she was told her hormone levels were very high and that she was carrying identical twins.

Alise’s twins were known as monochorionic-diamniotic twins, identical twins who shared the same placenta but different amniotic sacs. The placenta is the temporary organ that brings nutrients and oxygen to a baby during pregnancy and removes waste. That means identical twins are dependent on the same nutrient and oxygen source, which can sometimes be dangerous. Twin pregnancies are also more likely to lead to preeclampsia, or high blood pressure during pregnancy, low birth weight, and premature birth.

“There were so many questions we didn’t know to ask until it was unfolding before our eyes.”

– Alise Crutchman

Alise had frequent appointments with her doctor to closely track her health. At the time, her doctor didn’t seem concerned.

Alise doesn’t recall her doctor explaining much about the risks she was facing other than the importance of staying healthy.

So, it was a shock to Alise when, at her 16-week appointment, her doctor discovered that one baby didn’t have a heartbeat. In addition to losing one of the twins, Alise also had to deal with the health complications that came with the loss. The loss caused a surge of blood to pass through the shared placenta, resulting in an increased risk of mental and physical disabilities for the other baby and an increased risk of miscarriage and preterm labor.

“There were so many questions we didn’t know to ask until it was unfolding before our eyes,” Alise says.

Alise had to carry both babies to avoid risking one baby’s health. But four