Heidi Rehm, PhD, Associate Molecular Geneticist at Brigham and Women’s Hospital and Director, Partners HealthCare Laboratory for Molecular Medicine, describes the different types of genomic sequencing tests that are available to patients and what the results reveal about current and future health.

Patients may have their genome sequenced for a variety of different reasons. They may be looking for the genetic cause of an existing disease, they may be concerned about the risk of developing a disease later in life, they 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 better understand their ancestry.

When analyzing a genome, geneticists may look at specific regions that are related to a disease or they may scan through the genome trying to find variants that other people have said cause disease. In about one to two percent of individuals who have their genomes sequenced, geneticists find information that puts patients at very high risk for disease and that information is actionable.

In approximately 15 to 20 percent of the population, geneticists find variations that suggest a risk for developing disease; however, it can be difficult to quantify the likelihood that healthy individuals may develop disease because because researchers have mostly studied the genomes of patients who have already developed a disease.

The Clinical Genome Resource (ClinGen) is a research program funded by the National Institutes of Health whose goal is to help understand the significance of genetic variations by consolidating genetic test results from individuals into a single database. Any individual who has undergone genetic testing can share their genetic test results through the ClinGen program.

Learn more:

Genetic testing at Brigham and Women’s Hospital:
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Clinical Genome Resource: [ Ссылка ]

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