Once the pedigree is completed and verified, medical tests may be offered to some relatives. The tests may also be more general, such as an X-ray, ultrasound, urine analysis, skin biopsy, or physical examination. The cost of the medical testing is not always covered by insurance companies, making it difficult or impossible for some relatives to have a complete genetic evaluation. After medical tests are completed and records are collected, the genetic counselor may be able to make a diagnosis, or just as importantly, determine that a person does not have or is not at risk for a genetic disease. The pedigree can also be used to estimate the risk relatives face to develop a genetic disease or have a child with a genetic disease.
Genetic counseling involves more than just communicating complex medical information to families.
The biggest challenge of genetic counseling is helping families cope with the emotional, psychological, medical, social and economic consequences of genetic disease. Patients can react in unexpected ways when they learn their genetic risk status. Others react with anger, shock, denial, grief, depression, confusion, and guilt. Treating and caring for people with genetic diseases can be expensive, yet some people may lose their jobs and health insurance because of their risk of developing a genetic disease. Someone diagnosed with a genetic disease may be avoided by other relatives because the relatives don't know what to say or because they don't want to face up to the possibility that they too may develop the same genetic disease.