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 to stay current with appropriate policies. Some institutions will have guidelines in place concerning certain genetic tests, yet 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. Then departments have to rapidly adapt their procedures or menus to promote 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 may soon be sequenced for about $2000. It would then appear to make more sense (financially) for laboratories to send out whole-genome testing on patients. However, software is not yet available to health care organizations to take a patient's whole genome or exome, interpret it clinically, and import this information into the electronic medical record (EMR). There are many ethical and personal issues that could arise if information were obtained about the whole genome. 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.
