Genomenon’s Automated Genomic Search Engine Mastermind Illuminates Current Trends in Genomic Literature – A Look at the Top Cited Variants Across the Scientific Literature

For this month’s “Company Spotlight” blog series we are taking a deeper look at Mastermind, an automated genomic search engine created by Genomenon, a University of Michigan spin-off. Mastermind, a comprehensive database of genomic disease-to-gene-to-variant associations, supports its users to search through millions of full text articles from the primary medical literature to identify variants of interest, prioritize them, and retrieve relevant articles for disease-gene-variant combinations. Rather than providing a regular Q&A with a company representative, we thought of illustrating the richness of Mastermind’s content and the associated functionalities via the retrieval of interesting citation data, as provided by Mark Kiel (CSO and co-Founder at Genomenon) and Lauren Chunn (Data Processing Intern at Genomenon). Specifically, the Genomenon team supplied a current trends analysis of widely cited variants within the genomic literature. Through this process they are able to paint a picture of the changing landscape of genomic research and medicine, from variants that have remained a common feature for decades to newly emerging variants over the last few years.

Genomenon is a 15 person company, headquartered in Ann Arbor, Michigan, and founded in 2014. To date, Genomenon has received $4.5M in funding (Angel, Venture investment and NIH SBIR Fast Track Grant), and has grown to become an independent company.

Mastermind is a genomic search engine comprising an index of titles, abstracts, and full text including figures and tables of 5.7 million prioritized primary articles. New Continue reading

The Life of a Genetic Counselor: Providing Patient Education, Navigating Insurance, and Challenges in Choosing Tests

dna-163466Recently I got a glimpse of life as a genetic counselor when I spoke with Kerry Kingham from the Stanford Cancer Center. So many of us in the genomics community come from the worlds of technology and science — I thought enlightenbio readers might find this clinical information as useful as I did.

Kerry started out in biology but earned her master’s degree in genetic counseling at Berkeley, a career path that requires board certification, state licensing, and ongoing education. Her job entails what you might expect from genetic counseling: providing education to patients to help make informed decisions on genetic testing, including dealing with insurance companies and other logistics, as well as teaching students.

AngelinaEffectTypically, Kerry’s workday starts at 8:30 am, when she meets with the rest of the team to discuss the day’s cases. She sees about 25 to 30 patients per month, a significant increase even from last year’s numbers. Stanford Hospitals & Clinics alone has seen a doubling in the number of patients between October 2013 and February 2014 (from approximately 60 to more than 100 patients in six months and this at the Cancer Center alone). Kerry attributes much of that to the Angelina Jolie effect: the actress’s decision to go public about her BRCA status and prophylactic double mastectomy, which has encouraged many more people to find out about their own genetic information. Most patients are referred to the clinic by their physician and some are self-referred and are seen by a genetic counselor alone or with a genetic counselor and a physician.

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