Genetic conditions can occur with unique symptoms at all stages of life, from birth defects in a newborn to cognitive changes in an older adult. When a patient has a symptom or medical complaint, a diagnosis is needed, especially for treatable disorders. Initially, genetic disorders were considered untreatable and often investigated in the final stages of evaluation. However, biomedical research advances and recognition of the genetic contribution to more common disorders is changing the evaluation paradigm. Also, the increasing access and availability of genetic testing have improved the diagnostic capabilities for many disorders. When providing genetic counseling in a pretesting scenario for diagnostic purposes, genetic counselors may make testing recommendations, especially when medical intervention is available for the condition.9 Diagnosis of a genetic condition brings emotional, social, and financial burden for the patient and the family.10 Unlike many other areas of medicine, genetics does go beyond the patient and includes the impact to the entire family. Whether a diagnosis is made during the neonatal, pedi-atric, or adult years, the importance of genetic counseling remains. The goals of genetic counseling for the patient and the family following the diagnosis of a genetic condition include:
• Education about the natural history of the condition and medical implications;
• Explanation of the genetic contribution and inheritance and recurrence risks;
• Identification of social and emotional resources;
• Attentiveness to patient's and family's reaction to diagnosis and coping strategies;
• Promotion of the best possible emotional adjustment for the patient and family; and
• Facilitation of access to necessary medical and social services.11
Genetic testing for diagnostic purposes is occurring more frequently without pretest counseling in the primary physician's or specialist's office; however, once a positive test result is disclosed, patients are referred for genetic counseling to help them understand the meaning and implications of the result.
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