image: The ACMG Foundation for Genetic and Genomic Medicine is a community of supporters and contributors who understand the importance of medical genetics in healthcare. The ACMG Foundation raises funds to attract the next generation of medical geneticists and genetic counselors, sponsors important research and promotes accurate information about medical genetics. view more
Credit: ACMG Foundation for Genetic and Genomic Medicine
Steven Harrison, PhD, a Clinical Molecular Genetics Fellow at the Harvard Medical School and the Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) is the recipient of the 2018 Richard King Trainee Award. This award was instituted by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMGG, international equivalents or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM).
Each year the editorial board reviews all articles published in GIM by an ABMGG or genetic counseling trainee who was either a first or corresponding author during that year. The manuscript considered to have the most merit is selected by the editorial board and a cash prize, along with meeting expenses, was awarded at the 2018 ACMG Annual Clinical Genetics Meeting in Charlotte, NC.
Dr. Harrison, was given the award for his published article titled, "Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar" which was published in the March 2017 issue of Genetics in Medicine.
Dr. Harrison's work focuses on variant interpretation approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Dr. Harrison co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines, and the Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team which aims to resolve variants with interpretation differences between clinical laboratories. "I am honored to be the recipient of this years' Richard King Award. I want to thank both the ACMG Foundation for recognizing the important work of resolving interpretation discrepancies and the many clinical laboratories that participate in these efforts and share their data in ClinVar," said Dr. Harrison.
Jim Evans, MD, PhD and editor-in-chief of GIM stated, "The competition has gotten increasingly fierce for the King award, reflecting the very high quality of trainees in our field and the many high-quality submissions GIM receives. In the end the editorial board felt that Dr. Harrison's manuscript warranted the award given that the results of this manuscript inform our community regarding one of the most pressing and challenging issues facing our field, that of variant interpretation."
The award is given by the ACMG Foundation and is named for Dr. Richard King in recognition of his instrumental role in creating Genetics in Medicine and serving as the first and founding Editor-in-Chief of the journal.
Eligible trainees include those in the following programs: Clinical Biochemical Genetics; Clinical Cytogenetics; Clinical Molecular Genetics Combined Internal Medicine/Genetics; Combined Pediatrics/Genetics; PhD Medical Genetics and Genetic Counseling.
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The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.
To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301-718-2014.