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So Different, Yet So Similar


As species go, humans are not particularly diverse. In this month's cover story, the University of Pennsylvania's Sarah Tishkoff tells GT that chimpanzees are about three times more diverse than people are, and that humans lost a lot of their diversity as they passed through a population bottleneck as they migrated out of Africa. And yet, people exhibit surprising differences in terms of their susceptibility to disease, ability to digest lactase, and more. This month's cover story looks into how large-scale genomic studies, data sets, and tools are being put to use to better understand just how different, and similar, people really are.

Also this month, Christie Rizk reports on strategies that researchers are developing to diagnose cancer before it has a chance to progress. She says that researchers are increasingly turning to the immune system as a diagnostic tool, identifying antigens and glycans that indicate when something has gone wrong in the body. Others, meanwhile, are turning to the metabolome as an indicator of changes that occur to the metabolism due to the onset of cancer. Christie notes, however, that there is always the specter of over-diagnosis to contend with. Elsewhere, Matthew Dublin reports on the state of biobanks as they try to modernize and keep up with the demands of newer technologies. In addition, he says that some biobanks are drawing up best practice guidelines to maximize sample quality.

For this month's ethics column, Matt also takes a look at an interesting situation: A US Department of Defense advisory panel has recommended that the department begin to explore performing genetic research on military personnel. As Matt reports, some bioethicists have raised questions about whether military research participants can give true informed consent when the research is being conducted by their employer and whether there are any genetic discrimination protections for service members. It's an intriguing read.

The Scan

Drug Response Variants May Be Distinct in Somatic, Germline Samples

Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline.

Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis

Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine.

Health-Related Quality of Life Gets Boost After Microbiome-Based Treatment for Recurrent C. Diff

A secondary analysis of Phase 3 clinical trial data in JAMA Network Open suggests an investigational oral microbiome-based drug may lead to enhanced quality of life measures.

Study Follows Consequences of Early Confirmatory Trials for Accelerated Approval Indications

Time to traditional approval or withdrawal was shorter when confirmatory trials started prior to accelerated approval, though overall regulatory outcomes remained similar, a JAMA study finds.