Why should family members of patients with an autosomal dominant disease be tested for that disease?
The children, siblings, and parents of a patient with an autosomal dominant disease each have a 50% chance of harboring the same disease-associated variation as the patient and thus being affected by the same disease. Once the familial mutation associated with the disease is known, genetic family testing can identify both at-risk and not-at-risk family members. If the familial mutation is not present, the family member can be reassured that he or she and his or her descendants are not at any greater risk of the disease than the general population. If the familial mutation is present, the family member and his or her parents, siblings, and children are at greatly increased risk for the disease. Family members harboring the familial mutation know that they and their physicians have to be vigilant for symptoms of the disease and seek treatment as soon as symptoms appear.
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