Ensuring the Free and Open Sharing of Clinically Relevant Genome Variants - A Statement by the Human Variome Project Consortium
Genetic tests for diagnostic, predictive and screening purposes are a routine part of clinical care in most modern healthcare systems, and as we discover more about the genetic determinants of our health, we can expect genetic testing to become more prevalent. At the same time, new technological advancements, lower costs and increased training and education will see genetic testing spread rapidly into routine clinical practice in countries with, to date, less advanced healthcare systems.
Despite major advances that have allowed the technical portion of genetic testing to become routine, the interpretation of clinical sequencing results remains a major challenge given the enormous amount of rare and unique genetic variation in the human population. Enabling patients to optimally benefit from genetic testing will require major advances in our understanding of genetic variation and its impact on health and disease. Open data sharing of patient genotypes and phenotypes is necessary to achieve these advances.
The Human Variome Project believes that all laboratories that undertake genetic testing for diagnostic, prognostic or screening purposes must share the molecular and phenotypic data generated or collected in the course of testing in an appropriate public database. Not sharing this data prevents comparative assessments of variant interpretations, reduces consensus building, decreases the quality of test interpretations, and allows for potential harm to patients. To this end, the Human Variome Project fully supports the recent American College of Medical Genetics and Genomics Position Statement on Public Disclosure of Clinically Relevant Genome Variants (http://short.variome.org/acmg-crgv-statement).
Further, the Human Variome Project calls on national governments, regulatory bodies and professional societies to facilitate the free and open sharing of this information by reducing legislative and procedural barriers. While the Human Variome Project recognises the sensitive nature of genetic information and accompanying clinical data, and is aware of the ethical, legal and social issues inherent in its collection, storage and use, the Project also recognises that this same information is fundamental to the practice of genetic and genomic medicine. A balance must be struck between protecting individual privacy and establishing a body of evidence capable of providing life-saving medical intervention to the population at large.