Have you ever wondered what your genes can tell you about your health – today or in the future? Genes are instructions that tell the body how to grow and develop properly. Found inside each cell, genes are made up of DNA. The genome is someone’s complete set of DNA, including all of its genes.
Genomic sequencing may indicate your risk for developing a disease in the future.
People have their genome sequenced for a variety of different reasons. They may be looking for the genetic cause of an existing disease, or they may be concerned about the risk of developing a disease later in life. Some people may want to find out if they are a genetic carrier for a disease that may be passed on to a child, or they may simply want to understand their ancestry.
When analyzing a person’s genome, geneticists examine the entire genome or look at certain sections of the genome for variants in the genetic code that have been tied to a specific disease. In about ten percent of seemingly healthy individuals who have their genome sequenced, geneticists find information that indicates if someone is at risk for developing a particular disease. This genetic information can be used by the patient and their provider to take steps to address or reduce their risk of disease.
Establishing the likelihood that the individual may develop the disease, however, is challenging. For example, if genetic sequencing identifies a breast cancer variant, geneticists can say the patient is at risk because their genetic variant has been linked to disease in patients who already have the disease but they can’t estimate if the patient has a 10 percent chance, a 50 percent chance, a 90 percent chance of developing breast cancer because the healthy population with this genetic variant has not been studied.
In this video, Heidi Rehm, PhD, Associate Professor of Pathology at Brigham and Women’s Hospital and Director, Partners HealthCare Laboratory for Molecular Medicine, describes the Clinical Genome Resource (ClinGen) Program, funded by the National Institutes of Health. The goal of ClinGen is to help researchers, physicians and patients better understand the significance of genetic variants by performing expert review of variants collected from laboratories as well as directly from genetic test results. Any individual who has undergone genetic testing can share their test results through the ClinGen program.
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