Excerpts from the Position Statement dated March 16, 2015
issued by the American College of Medical Genetics and Genomics
The value of a genetic diagnosis is immeasurable – not just psychologically but also financially. It often brings resolution to the costly diagnostic odyssey that is pursued – sometimes over the course of years – in a quest to establish a diagnosis. New DNA sequencing technologies are greatly expanding the number of causative genes known for genetic disorders. We are finding that for many rare genetic disorders identified in children, there is a new mutation not carried by either parent. This finding dramatically lowers the recurrence risk for future children and is extremely important for family planning. Further gene identification is a necessary first step for future development of specific treatment. Finally, for many adult disorders, such as inherited forms of cancer susceptibility, specific diagnosis enables testing other at risk family members and can often prevent disease or lead to earlier diagnosis with greatly improved prognosis.Often a genetic diagnosis provides extremely valuable information not only to the patient but also to family members who are at risk for such disorders and who can take appropriate steps such as preventive measures or early treatment.There is great clinical value in arriving at a precise medical diagnosis, enabling, among other things, a disorder’s cause and prognosis, as well as frequently informing preventive and treatment modalities.
Full statement is available at : ACMG Policy Statement