FOR IMMEDIATE RELEASE
Tuesday,
07 August 2012, 9:00am
CONTACT:
Keri Stedman
Boston Children’s Hospital
617-919-3110
Thirty teams compete to
interpret three families’ genomes
International contestants vie to bring “CLARITY” to DNA sequencing
information
DNA sequencing is rapidly getting faster and cheaper, but
it’s still unclear how physicians and patients will be able to use this
information. In a contest led by Boston Children’s Hospital, 30 teams from
around the world are vying to interpret the DNA sequences of three children
with rare conditions whose cause remains a mystery—with the goal of
establishing "best practices" for interpreting genomic data.
Participants in the competition, known as the CLARITY
challenge, range from small biotech startups to the National Institutes of
Health (see list below), representing the United States, Canada, China, India,
Israel, Italy, Germany, the Netherlands, Singapore, Slovenia, Spain,
Switzerland and Sweden.
Results of the challenge will be announced in November at
the American Society of Human Genetics annual meeting in San Francisco (Nov.
6-10) by the contest’s organizers—David
Margulies, MD, executive director of The Gene Partnership at Boston
Children’s, Isaac
Kohane, MD, PhD, director of the hospital’s Informatics Program, and Alan
Beggs, PhD, director of the Manton
Center for Orphan Disease Research at the hospital.
The goals of CLARITY (Children’s
Leadership Award for the Reliable Interpretation and Transmission of Your
genomic information) are to address technical and bioinformatics questions in
analyzing DNA sequence results, bring standardization to the analysis of
genetic variants and generate a comprehensive, actionable report that can guide
decision-making by doctors, genetic counselors and patients. Contestants have a
deadline of September 30 to submit their findings and reports.
"The
last major barrier to widespread clinical use of DNA sequencing is the creation
of accurate, understandable interpretations of sequence findings for doctors
and patients,” says Margulies, also affiliated with the Center for Biomedical Informatics, Harvard Medical School. "The goal of this contest
is to define norms, standards and models for reporting findings from exomes and genomes. We are excited about the number and
quality of participants, and we look forward to seeing their entries."
All
contestants have been given raw DNA sequence data (both whole-genome and whole-exome sequences) and de-identified clinical data from three
children and their immediate relatives identified by The Manton Center for
Orphan Disease Research at Boston Children’s.
Of the three children, two have a neuromuscular disorder and
the third a cardiovascular disorder. While all three are believed to have a genetic
cause for their disorder, they have come up negative on all known genetic
tests.
"Traditional
genetic tests examine our genes one by one, requiring doctors to
have a good idea ahead of time which of our roughly 20,000 genes is
the likely cause,” says Beggs, also a professor of Pediatrics at HMS. “The beauty
of whole-genome sequencing is that it
provides results
for virtually all of our genes at once. The challenge for our contestants is to pick out that one
disease-causing mutation from the
vast numbers of genetic differences that make each of us unique.”
Contest sponsors Life Technologies
Corporation and Complete
Genomics generated the genome sequences being used in the Challenge. Boston
Children’s will award a prize of $25,000 to the winning research team, which
will be selected by a panel
of judges according to pre-specified criteria.
“We wanted researchers at small institutions and startups,
anywhere in the world, to be able to compete with the ‘big boys’ of genomics
and in so doing find better solutions,” says Kohane, who
co-directs the Center for Biomedical Informatics at HMS. “This contest gives
everyone a level playing field on which to innovate.”
Challenge contestants:
1.
Beijing Genomics
Institute (Shenzhen, China)
2.
Brigham & Women's
Hospital, Division of Genetics (Boston)
3.
British Columbia
Cancer Agency (Vancouver)
4.
Children's Hospital of
Eastern Ontario (Ottawa)
5.
Clinical Institute of
Medical Genetics (Ljubljana, Slovenia)
6.
Genedata AG (Basel, Switzerland)
7.
Genomatix Software GmbH (Munich, Germany)
8. Genome Institute of Singapore Agency for Science, Technology and Research
(A*STAR) (Biopolis, Singapore)
9.
HudsonAlpha Institute for Biotechnology (Huntsville, Alabama)
10. Institute for Systems Biology (Seattle)
11. IRCCS Casa Sollievo della Sofferenza (San Giovanni Rotondo, Foggia, Italy)
12. National Institutes of Health (Bethesda, Maryland)
13. NextBio (Santa Clara, California)
14. Omicia, Inc. (Emeryville, California)
15. Pearlgen (Chapel Hill, North Carolina)
16. Radboud University Nijmegen Medical Center (Nijmegan,
Netherlands)
17. Sanofi (Cambridge, Massachusetts)
18. Science For Life Laboratory (SciLifeLab),
Karolinska Institute (Solna,
Sweden)
19. Scripps Genomic Medicine (San Diego)
20. Seven
Bridges Genomics (Cambridge, Massachusetts)
21. SimulConsult / Geisinger (Chestnut Hill,
Massachusetts / Danville, Pennsylvania)
22. SNPedia (wiki)
23. Strand
Life Sciences (Bangalore, India)
24. Tel Aviv University (Israel)
25. The Medical College of Wisconsin (Milwaukee)
26. The Research Institute at Nationwide Children's Hospital
(Columbus, Ohio)
27. The University of Texas Health Science Center at Houston,
The Brown Foundation Institute of Molecular Medicine
28. Universidad de Cantabria (Santander, Spain)
29. University of Iowa (Iowa City)
30. Yale School of Public Health, Division of Biostatistics
(New Haven, Connecticut)
Full information about the Challenge is available online at www.childrenshospital.org/CLARITY.
For further background on CLARITY and genome sequencing, see these recent posts
on our science and innovation blog, Vector:
Boston Children’s
Hospital is
home to the world’s largest research enterprise based at a pediatric medical
center, where its discoveries have benefited both children and adults since
1869. More than 1,100 scientists, including nine members of the National
Academy of Sciences, 11 members of the Institute of Medicine and nine members of
the Howard Hughes Medical Institute comprise Boston Children’s research
community. Founded as a 20-bed hospital for children, Boston Children’s today
is a 395 bed comprehensive center for pediatric and adolescent health care
grounded in the values of excellence in patient care and sensitivity to the
complex needs and diversity of children and families. Boston Children’s also is
the primary pediatric teaching affiliate of Harvard Medical School. For more information about research and clinical innovation at
Boston Children’s, visit: http://vectorblog.org.
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