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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

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.