The Option of Genetic Testing
Evidence regarding the implications of this narrow regulatory oversight of genetic tests is limited and consists predominately of laboratory director responses to quality assurance surveys. A survey of 133 laboratory directors performing genetic tests found that 88% of laboratories employed one or more American Board of Medical Genetics (ABMG)-certified or ABMG-eligible professional geneticists and 23% had an affiliation with at least one doctoral-prepared geneticist. Eight percent of laboratories did not employ and were not affiliated with doctoral-level genetics professionals. Laboratory-developed tests were performed in 70% of laboratories. Sixty-three percent of laboratories provided an interpretation of the test result as part of the test report. Another survey of 190 laboratory directors found that 97% were CLIA-certified for high complexity testing. Sixteen percent of laboratories reported no specialty area certification and those without specialty certification represented laboratories with the most volume of tests performed and offered the most extensive test selection. Of laboratories with specialty certification, not all had certification relevant to genetic tests, with 48% reporting pathology certification, 46% chemistry certification and 41% clinical cytogenetics certification. Sixteen percent of directors reported participation in no formal external proficiency testing program, although 77% performed some informal proficiency testing when a formal external proficiency testing program was not available.
The most frequent reason cited for lack of proficiency testing participation was lack of available proficiency testing programs. Laboratory directors estimated that in the past 2 years 37% issued three or fewer incorrect reports, and 35% issued at least four incorrect reports. Analytic errors such as faulty reagent, equipment failure, or human error, increased 40% with each decrease in level of proficiency training completed. An international genetic testing laboratory director survey involving 18 countries found that 64% of the 827 laboratories responding accepted samples from outside their country. Similar to the U.S. study, 74% reported participation in some form of proficiency testing. Fifty-three percent of the laboratories required a copy of the consent to perform the test and 72% of laboratories retained specimens indefinitely that were submitted for testing.
The U.S. Department of Health and Human Services Secretary's Advisory Committee on Genetics, Health, and Society has published a detailed report regarding the adequacy and transparency of the current oversight system for genetic testing in the United States. The Committee identified gaps in the following areas:
- Regulations governing clinical laboratory quality.
- Oversight of the clinical validity of genetic tests.
- The number and identification of laboratories performing genetic tests and the specific genetic tests being performed.
- Level of current knowledge about the clinical usefulness of genetic tests.
- Educational preparation in genetics of health providers, the public health community, patients, and consumers.
Direct-to-Consumer Marketing of Genetic Tests
Over the last decade there has been a marked increase in companies advertising or providing genetic services directly to the consumer.[15,16,17] Accordingly, it is inevitable that an increasing number of patients will approach physicians and genetic counselors armed with information, or genetic test results from direct-to-consumer (DTC) companies. In the next sections, information is provided about: (1) trends in DTC marketing of genetic tests; (2) concerns about DTC marketing of genetic tests; and (3) research examining the impact of DTC marketing of genetic tests.