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July 15th, 2014
To whom it may concern:
Free the Data is writing to ask your laboratory to help improve patient care by submitting genetic testing data for all genes you provide testing for to ClinVar. We represent a consortium of individuals and organizations working towards an open access resource of genetic variants and associated phenotypic information with a strong emphasis on the BRCA1 and 2 genes. We are a multi-stakeholder consortium: patients, advocates, public policy makers, labs, and software companies working to change the fields of healthcare and informatics. The data needed to populate an open access repository of human genetic variation already exists, with hundreds of thousands of individual genetic test results generated annually. However, these data are rarely published in research journals and are thus not part of the public domain. We urge you to help fill this gap in public knowledge, and contribute genetic testing data to the National Center for Biotechnology Information (NCBI)’s open access ClinVar database (www.ncbi.nlm.nih.gov/clinvar/).
A central, publicly accessible resource of data about variants and associated phenotypes is sorely needed, especially as medicine grows more personalized. Clinical laboratories need this data to inform and improve variant interpretations that patients and their doctors depend on to guide important decisions about their health. Clinicians need this data as they strive to improve treatment for various conditions. Researchers need this data, as well, as they work to elucidate the effect of genetic variation and improve our understanding of human health and disease. Without such a resource, it is difficult for medicine to move forward.
Several projects that address this issue are already in place. These include Free the Data, the Sharing Clinical Reports Project (SCRP), and the Clinical Genome Resource (ClinGen). All of these efforts support the contribution of data to ClinVar. However, for these projects to succeed, data from genetic testing laboratories must be made available in the public domain. As you continue your work to bring genetic testing to those in need, we ask you to consider the lack of available data and to act accordingly.
For more information about submitting data to ClinVar, please visit the ClinVar website at www.ncbi.nlm.nih.gov/clinvar/docs/submit/ or contact ClinVar at email@example.com. We will be listing labs that submit BRCA1 and 2 data to ClinVar on the Free the Data website. Please add your name to the list!
The Free the Data Steering Committee
|signatures and counting!|
With support from...
|Counsyl||In Need of Diagnosis, Inc.||Genomics Medical Institute of El Camino Hospital|
|GeneDx||Joubert Syndrome & Related Disorders Foundation||Health Sciences North|
|Invitae||MEBO Research, Inc.||Henry Ford Hospital, Division of Genetics|
|Pathway Genomics||MLD Foundation||Huntsman Cancer Institute|
|National Ovarian Cancer Coalition||Michigan State University|
|African-American Community Health Group||Ovarian Cancer Alliance of San Diego||Institute for Basic Research in Developmental Disorders|
|Alstrom Syndrome International||Patient Advocates In Research||Intermountain Healthcare|
|AXYS Association for X and Y Chromosome Variations||Patients for Clinical Research||Monmouth Medical Center|
|Basal Cell Carcinoma Nevus Syndrome Life Support Network||Regroupement québécois des maladies orphelines||Parker Adventist Hospital|
|CADASIL Together We Have Hope||StartCodon||The School of Theoretical Modeling|
|Cancer Resource Foundation||United Leukodystrophy Foundation||St. John Providence Health System|
|The Cholangiocarcinoma Foundation||WNY Ovarian Cancer Project, Inc.||UC Davis Comprehensive Cancer Center|
|The Choroideremia Research Foundation, Inc.||UHC Split, Paediatrics Clinic, Department for Medical Genetics|
|Cure CMD||AC Camargo Cancer Center||University of North Carolina Hospital|
|Cure DM1 Hunt||Annadel Medical Group||Yale Cancer Genetic Counseling|
|Fanconi Anemia Research Fund||British Columbia Clinical Genomics Network|
|Foye Centronuclear Myopathy Project||Centegra Sage Cancer Center||5AM Solutions, Inc.|
|Hepatitis Foundation International||Geisinger Health System||Syapse|
|HHT Foundation International||Genetic Counseling Service||Sysmark Information Systems, Inc.|
Free the Data is currently working to distribute this letter to labs who offer testing for
mutations in the BRCA1/2 genes. However, although the official deadline for signatures of support
from individuals and organizations is past, we will be leaving the letter up on this page.
We continue to encourage you and your organization to add your support by signing on below.
The page will be updated frequently to reflect new signatures.
Or, visit our Frequently Asked Questions page.