How Genetic Data Sharing Will Revolutionize Healthcare

" ... Unfortunately, our ability to acquire genetic data has significantly outpaced our capacity to interpret and use it. In the current medical landscape, scenarios like the following are not uncommon: After waiting months to get a medical genetics appointment and then weeks to hear the results, a family is hopeful for answers about their two-year-old son’s mysterious developmental problems. He was born with a heart abnormality and a missing kidney, and as he grew up, he appeared different from other children and was not meeting developmental milestones. His doctors determine that he has a rare chromosome deletion, but cannot say whether or how it is related to his condition because they aren’t aware of anyone else with this genetic abnormality. While they may have found a clue in the child’s genome, they don’t yet have the tools or information to understand what it means ... Given how critical the accurate interpretation of genomic data is to patient health, laboratories and clinicians need better resources to help them interpret genomic information accurately. TheInternational Collaboration for Clinical Genomics, through the Clinical Genome (ClinGen) Resource Program, is working to harness the vast amount of genomic information generated by clinical laboratories and researchers to make it publicly available through ClinVar, a database housed in the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH).  ClinVar collects information about genomic variants and their relationships to human health from clinical laboratories and summarizes it for clinicians, researchers, and laboratory professionals. To protect patient privacy, the data is stripped of all identifying information (such as name and date of birth) and precautions are in place to control access.^(f) ClinVar differs from other genomic databases in that it is free and publicly available and it focuses on all types of genetic variation, rather than just a particular set of genes. It collects information not only about the final decisions made by laboratories, but also the process by which they interpreted the evidence ..."