Nominations open for ACMG secondary findings gene list

The ACMG Secondary Findings Working Group is updating the secondary findings gene list, initially published in an ACMG policy statement (Genet Med 2013;15:565–574). The group’s mission is to provide a dynamic and up-to-date list for use by laboratories performing clinical genomic analysis and clinicians returning genomic results, but we need your input. To nominate a gene to be added to or removed from the list, download and complete the nomination form from https://www.acmg.net/secondaryfindings, then e-mail the completed form to acmg@acmg.net.

Please keep in mind the following guiding principles. First, the genes should be medically actionable. “Actionable” means that a specific medical or surgical intervention is available that has demonstrated effectiveness to alter the disease course. Second, the genes should be associated with at least one clear phenotype that has serious medical implications.

For the first six months, the Working Group will review nominations by ACMG members only. After the first six months, we will open the nomination process to other professional organizations. Updates to the gene list will be published approximately twice per year.

We welcome feedback on this process and thank you for helping with this important effort! —Sarah Kalia, CGC

Genomics data now challenges YouTube in sheer volume

Genomics has finally hit the big time, rivaling behemoths YouTube and Twitter in sheer data volume. It’s going to take a Herculean effort to slay the “four-headed beast” of genomic data acquisition, storage, distribution, and analysis in the coming decades, according to a commentary published in PLOS Biology in July 2015. Comparing four of the largest data generators—astronomy, YouTube, Twitter, and genomics—the authors suggest that within a decade genomic data storage needs could overtake those of the other three, swamping all currently available storage. They base their estimates on the expected 100 million to two billion human genomes that could be sequenced by 2025. Further, they speculate that this figure could be a low estimate, when new, more efficient technologies and transcriptome, epigenome, proteome, and metabolome sequencing efforts are taken into consideration. They argue that planning for the “genomical” challenges of the next decade should begin now, with more effort toward coordination of data collections and less siloing of data in private collections. It’s time to think big, they say, by designing and constructing large data centers with storage and analytical systems that can query and aggregate information contained in multiple large data sets. While large-scale machine learning systems and better, more integrated infrastructure will be critical, the authors argue that genomics shouldn’t wait for computing to solve its problems. Data science should become a routine part of graduate, undergraduate, and even high-school curricula so the next generation will be ready to take on these Herculean tasks. —Karyn Hede, News Editor