Genetic profiling was once a costly procedure. However, it has become more affordable as the technology matures. Currently, the price for a full genetic map is approximately $3000. Many scientists predict the price will even go as low as $1000. With the technology priced at such reasonable level, genetic profiling has gradually integrated into everyday care as a standard procedure.
At the inception of the technology, genetic sequencing was confined to certain conditions. For instance, a patient with a family history of breast cancer may be tested for mutations in BRCA1 and BRCA2, 2 genes implicated in the disease. However, as genetic profiling advances, a whole genome sequencing for this patient is found to be more beneficial. Sequencing the whole genome uncovers additional mutations that cause diseases other than breast cancer.
One problem that accompanies whole genome sequencing is the handling of the information revealed by the procedure. Although many conditions with an identifiable genetic basis already have a treatment, there are conditions such as Lou Gehrig's disease that remains untreatable even though its genetic basis has been identified. To patients suffering from these untreatable diseases, the benefit of whole-genome sequencing is doubtful.
A positive diagnosis of an untreatable disease will subject the patient and his/her family to a life-long worry and misery. Thus, the handling of test results and finding ways to help patients cope with the change has become a subject of discussion in the medical community. In my view, advances in this area is imminent as they will truly help patients and families deal with the psychosocial impact of genetic profiling much better.
Reference
"Making Gene Mapping Part of Everyday Care" by Amy Dockser Marcus, published on the Wall Street Journal on May 15, 2012.
