Researchers and clinicians in genomic medicine have just scratched the surface of understanding how individual genes cause traditional “genetic diseases” like cystic fibrosis or sickle cell anemia, as well as how multiple genes in an individual’s genome contribute to complex diseases like diabetes and cardiovascular disease. While researchers continue to conduct large-scale studies on how genes affect health and cause disease, doctors are beginning to incorporate genomic data into clinical practice.
Because genetic test results can be used to make important determinations about patient care, thorough and accurate interpretation of test results is critical. Incorrect interpretations can result in misdiagnosis, prompting unnecessary monitoring, procedures, treatments, and stress for individuals and their family members. Clinical laboratory professionals therefore spend significant amounts of time researching variants by consulting the medical literature and proprietary genomic databases.
As accurate interpretation of genomic data is critical to patient health, laboratories and clinicians need better resources to help them interpret genomic information accurately. The ClinGen Resource’s work to pull together the vast amount of genomic information from clinical laboratories and researchers and make it publicly available through ClinVar, a database housed in the National Center for Biotechnology Information (NCBI) at the NIH. Patients are also getting involved in the data sharing movement by contributing their own genomic information and connecting with other patients through genetic registries. Genomic data sharing will help the scientific community to better understand the relationship between genes and human health.
The NIH has provided more detailed information on patient registries and keeps lists of active registries. Visit this link for more information.
To learn more about being involved in research and the importance of understanding genetics, visit Genetic Alliance's Genes in Life.
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.