We encourage labs that offer genetic
testing for the BRCA1/2 genes to share their data
with the open access database ClinVar.

 

Scroll down to read the letter and add your support.

 

 

 
 
 
 
 
 

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 clinvar@ncbi.nlm.nih.gov. 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!

 

Signed,

The Free the Data Steering Committee

Lisa Alderson, Invitae Heather Joseph, SPARC
Jack Andraka, Inventor & Liberator Laura Koontz, OCNA
Sherri Bale, GeneDx Robert Nussbaum, UCSF
Jennifer Cobb, Captricity Heidi Rehm, Partners Healthcare & ICCG
Bob Cook-Deegan, Duke University Joanna Rudnick, Advocate & Filmmaker
Andrea Downing, Advocate & Writer Lisa Schlager, FORCE
Jessica Everett, UMichigan & NSGC Robert Shelton, Private Access
Andy Faucett, Geinsinger Sharon Terry, Genetic Alliance
Jonathan Hirsch, Syapse John Wilbanks, Sage Bionetworks
 
480
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.