According to a United Health Center for Health Reform & Modernization/Harris Interactive survey of physicians in January 2012, 74% of doctors say they have patients in their practice who have not yet had a genetic test but would benefit from one. Yet only 7% of these doctors reported they were "highly knowledgeable" about genetic tests and around 70% said they were "somewhat knowledgeable" about genetic tests.
Genetic testing is evolving so quickly that it is difficult for providers to stay current with guidelines. Some institutions will have policies or guidelines in place concerning certain genetic tests, but it seems that as soon as clinicians become familiar with those guidelines, a new genetic test becomes available, which finds more mutations or has a significantly lower cost. Departments must then rapidly adapt their procedures or menus to utilize the new test. It becomes very hard to keep up with the pace of change.
Another imminent issue is the availability of whole genome or whole exome sequencing, which may be less expensive than testing for specific genes and mutations. For example, a neurologist may order genetic testing on a patient for Canavan disease, Krabbe disease, Charcot-Marie_Tooth (CMT) disease, and primary ataxia. These four tests could total to around $5000. However, a person's whole genome or whole exome can now be sequenced for about $2000 (in 2018). It appears then, that it would make financial sense for laboratories to send out for whole-exome testing on such patients. However, software can be limiting; many health care organizations don't know how to enter or importing the data from a whole exome sequencing report. Providers may also have trouble interpreting the report. There are also many ethical and personal issues that could arise if information were obtained about the whole genome/exome. For example, if a person's whole genome was tested would they want to know all diseases they might be at-risk for (Alzheimer's, Huntington's, ALS, etc.)? Who would decide when and what information to release?
The laboratory has an opportunity to take the lead role as the subject matter experts in this rapidly evolving area of testing. There are less than 2000 board-certified MD geneticists in the United States. There is also a shortage of genetic counselors. Other countries may have similar statistics. Thus, laboratory professionals are needed to help educate clinicians and the public on the availability, usefulness, and appropriateness of genetic tests.
