Selected Category: screening

From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice

Categories: genetic counseling, genomics, screening

November 29th, 2012 12:37 pm ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

There are more than 2500 diseases for which genetic testing is currently available. Most of these diseases are individually rare conditions but collectively affect millions of individuals and families worldwide. Genetic diseases are usually caused by mutations in one or a few genes that may confer a high risk of illness, disability and early death. Immediate relatives of affected people can be at highest risk for these diseases. Rapid advances in genomics, including whole genome sequencing, are leading to more accurate diagnosis, early detection and carrier testing for these diseases. Genetic counseling provides information for decision making by affected people and their families.

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