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Slowly But Surely


A few months ago, I headed to Washington, DC, for a forum put on by the Genetics and Public Policy Center, a group affiliated with Johns Hopkins and headed up by Kathy Hudson. The topic was "personal genomes, personal health" — and the consensus of the panel session was that while it's still early days for personalized medicine, it's getting increasingly urgent to figure out how patients will react to it and what some best practices may be.

For our cover story this month, Ciara Curtin delved into that concept, with an eye toward evaluating just how much of an impact pharmacogenomics is having in the clinic. She spoke with Hudson and other luminaries, reporting in her story that despite challenges still facing personalized medicine — an unclear regulatory environment, the ongoing need for better scientific and clinical validation of biomarkers, and problems with early companion diagnostics — the field is indeed making slow but steady progress.

In a feature article, Jeanene Swanson checked in on next-gen sequencing instruments. She interviewed a slew of customers for the three widely available platforms — Illumina, 454, and ABI — to find out what they like and dislike about their systems, as well as what their experience was getting the sequencers up and running. A trend that has been perking along for some time, that of scientists learning to use multiple sequencing platforms together, has picked up enough steam that several people Jeanene interviewed reported on how the mix-and-match approach is working. You'll also read an update on some of the technologies just getting to market — Danaher's Polonator and Helicos — as well as a quick take on how the next-next-gen platforms are shaping up.

Matt Dublin investigated the world of data visualization software, and in a feature article he reports on some new developments. The Broad's Integrative Genomics Viewer is one of the most recent examples of how computational biologists are attempting to build tools that will allow scientists to assess data intuitively and at a glance. As you'll see, the main challenge is incorporating enough data sets to provide a real analytical advantage while still keeping the user interface simple.

In this month's My Take column, blogger Sandra Porter writes about why you should consider using Second Life for scientific collaborations, presentations, and even conferences. While many people mock Second Life — the Daily Show's Jon Stewart referred to it as "the online game for people who don't have a first life" — Sandra says it's becoming a practical means to interact with other scientists as travel costs skyrocket.

The Scan

Unwrapping Mummies' Faces

LiveScience reports that Parabon NanoLabs researchers have reconstructed how three Egyptian mummies may have looked.

Study on Hold

The Spectrum 10K study has been put on hold due to a backlash, leading the researchers to conduct consultations with the autism community, Nature News reports.

Others Out There Already

Reuters reports that Sanofi is no longer developing an mRNA-based vaccine for SARS-CoV-2.

PNAS Papers on GWAS False Discovery, PRAMEF2 Role in Tumorigenesis, RNA Virus Reverse Genetics

In PNAS this week: strategy to account for GWAS false-discovery rates, role of PRAMEF2 in cancer development, and more.