A: The genome consists of all the genetic material required to guide an organism’s development, growth and health—the "code of life" for that organism. This genetic material forms a chemical code that is different for each individual, except in the case of identical twins.
Most of the small differences in the genome between people do not cause disease. However, certain differences cause errors in function. In a few cases, these errors can directly cause rare genetic diseases such as sickle cell anemia or Huntington's disease. More often, a specific combination of several of these functional errors in different parts of the genome contribute to the risk of more common diseases like diabetes or heart disease. See:
A: A GWAS study examines the complete genome of a number of people to find variations that occur in association with a specific disease by comparing the genomes of people who have that disease to the genomes of people who do not have the disease.
By looking more closely at the areas of the genome where these variations occur, scientists can identify the specific errors that contribute to a particular disease. See:
A: GWAS studies have been used to identify genetic variations that contribute to the risk of a number of diseases, including macular degeneration (a form of blindness), Parkinson’s disease, prostate cancer, and diabetes. GWAS findings have also identified genetic variations that influence response to certain medications, such as antidepressants.
Scientists can enter the anonymous genetic codes of their study participants into centralized databases. Researchers authorized to use the database can then search the genetic code of large numbers of people to find which areas of the gene are associated with a particular disease.
The findings of GWAS studies can be used to develop tests to help people learn if they have an increased risk for a certain disease or if they are likely to have a good response to specific types of medication. See:
A: In the past, many people worried that their genetic information could be used by medical insurers to deny coverage or claims, or by employers to make hiring and firing decisions. A federal law—the 2008 Genetic Information Nondiscrimination Act—specifically prevents discrimination in these areas based on genetic information. See:
A: There are many regulations in place to protect GWAS data. Scientists who want to use a GWAS database are required to get the approval of the Institutional Review Board that protects the privacy of people who have agreed to participate in this type of study.
Documents showing IRB approval are then submitted to the GWAS database when the scientist asks for permission to use the genetic data. No personal identification is included with the genome information in the database. Many layers of security are in place to ensure privacy. An individual person could be identified only if a scientist already had a sample of that person’s genetic information. See:
A: When a grant or contract from a government agency such as the National Institutes of Health or the National Cancer Institute pays for the research, scientists are required to either submit their findings to a centralized database and provide a plan for ensuring confidentiality, or justify why the data cannot be submitted.
Studies funded by a private agency are not required to submit their findings to any centralized GWAS registry. Even when a study is funded by a private agency, many scientists submit data to a registry in order to make it available to other researchers and to advance the study of genetic variations. See:
A: It is unlikely you will directly receive any personal benefit from participating in a GWAS study. Identifying areas of the genome that may influence disease risk is the starting point.
Further studies will be needed to develop treatments and interventions for the diseases being studied. Typically, this process takes many years. See: