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The Genome — a Pandora's Box?

In its fourth and last segment of its '$1,000 Genome' series, NPR's health blog, Shots, asks what people can expect to learn from their own genome sequence, and why they might not want to learn everything.

Beau Gunderson, a Silicon Valley startup employee, recently had his exome sequenced and found out that he did not inherit an Alzheimer's gene variants and shares some genes with Olympic sprinters, NPR's Rob Stein reports. But Gunderson still wonders what his genome could tell him about diseases he might get.

Others think that sequencing could open a Pandora's Box. "There are also people walking around out there who carry mutations that create an extraordinarily high probability that they will develop a horrendous, untreatable, unpreventable disease by age 50, 60 years old," says James Evans of the University of North Carolina, Chapel Hill. "That isn't necessarily information that everybody wants."

Furthermore, there could be genetic discrimination for life and disability insurance, and in the future, thugs might plant someone's DNA at a crime scene.

But proponents argue the potential benefits of sequencing "far outweigh" any risks, and that people "just have a right to have their genome," Stein writes.

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.