Professor and HHMI Investigator
Department of Genome Sciences, School of Medicine
University of Washington, Seattle, WA
ASHG: If you could go back to when you were a trainee, what is one piece of advice you would give yourself for your current career?
Dr. Eichler: Find your passion and work hard (realizing the two are inextricably linked). It’s easy to feel discouraged as a trainee and to think that you couldn’t possibly be cut out for the life of a PI or question where you might fit in in the grand scheme of science. Fretting about where you will be in 5 or 10 years is a waste of time. I believe such doubts are normal for a trainee.
However, the harder you work, the more you will discover these interests. Follow your own interests as opposed to following the pack; if your research excites you, you will excite others and it will lead to success.
ASHG: What are your favorite and least favorite parts of your job?
Dr. Eichler: The most favorite parts of the job are: 1) making new discoveries and contributing to the body of scientific knowledge especially as it relates to the evolution of our species, 2) seeing students mature into independent scientists as well as helping to launch new independent research careers, and 3) seeing your work directly benefit families who are struggling to understand their children’s illness.
The least favorite parts of the job are: 1) the, perhaps unavoidable, political aspects of research and funding, 2) the treatment of research as a business rather than an academic pursuit; and 3) the machinations of self-interest and ego especially when scientists take credit for others work often through clever relabeling of old ideas or concepts.
ASHG: What do you think the future holds for the field of genetics?
Dr. Eichler: The future for the field of genetics has never been brighter. We are at the initial stages of understanding the genetic basis of human disease and evolution at all levels. Technology has accelerated the pace of discovery and will soon make sequencing available to the masses.
Entire swaths of human genetic variation, however, remain to be understood and we should push toward the routine de novo assembly of genomes as opposed to simply aligning to a reference for variant discovery. A comprehensive assessment of all forms of genetic variation is the key to understanding the heritability of disease.
Once disease is understood at the molecular level and can be accurately diagnosed, the ability to develop individual treatments based on the specific molecular pathology will improve quality of life. I am optimistic that the promises of the genomics revolution will be delivered in my lifetime.
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