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Mass Spec Then and Now, Next-Gen Sequencing Market Heats Up, and Prenatal Diagnostics Come into Focus


Proteomics was featured front and center in Genome Technology's June 2002 issue, with a cover story on mass spectrometry instruments. "With vendors continually leaping over each other, mass spec technologies for proteomic analysis are advancing faster than you can say 'Fourier transform ion cyclotron resonance,'" GT said at the time. Ten years ago, researchers had plenty of options when it came to choosing a mass spectrometer, and now they have even more, though time-of-flight machines remain a favorite.

Five years ago, GT's annual salary survey turned five. At the time, respondents who identified as associate or assistant professors at academic institutions reported making between $75,000 and $84,999 on average per year. (See this year's salary survey.)

Elsewhere in its June 2007 issue, GT examined the next-generation sequencing market and spoke with researchers who were "playing the waiting game" — deciding whether to bite the bullet and buy a new machine, or to wait for newer, possibly better, sequencers to come online. At the time, Oregon State University's James Carrington said that any given instrument "may be state of the art today, but it may not be ... in six months." The sequencing technology arms race has intensified since then. Shares of Life Technologies, Illumina, Pacific Biosciences, and Complete Genomics all slipped during mid-afternoon trading on the Nasdaq on the day Oxford Nanopore announced its nanopore sequencing platform at the Advances in Genome Biology and Technology meeting this February.

Last year, experts discussed the potential ethical implications of sequencing-based prenatal diagnostics, with several — like Sequenom's test, then called SensiGene T21, and now known as MaterniT21 — on the horizon. "We're only just beginning to sort through which genetic factors are becoming important, but now suddenly you're getting all of this information at the prenatal stage," the University of Connecticut's Peter Benn told GT at the time.

In April, Sequenom announced first-quarter 2012 sales of its MaterniT21 Plus noninvasive sequencing-based diagnostic for trisomy 21, 13, and 18, saying it had already sold more than 4,900 tests. The company also said it expected an annualized run rate of more than 30,000 tests, exceeding its previous estimate of 25,000 tests per year.

The Scan

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.

EHR Quality Improvement Study Detects Demographic-Related Deficiencies in Cancer Family History Data

In a retrospective analysis in JAMA Network Open, researchers find that sex, ethnicity, language, and other features coincide with the quality of cancer family history information in a patient's record.

Inflammatory Bowel Disease Linked to Gut Microbiome Community Structure Gradient in Meta-Analysis

Bringing together data from prior studies, researchers in Genome Biology track down microbial taxa and a population structure gradient with ties to ulcerative colitis or Crohn's disease.

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.