A study published in Health Affairs in the US has found that new genetic tests are being developed and made available at an incredible rate.
Already in the US there are about 75,000 genetic tests on the market and on average 10 more are being added each day. While the numbers are lower in Australia, a similar phenomenon is happening here. A quick look at the RCPA Catalogue of Genetic Tests
shows that there are a huge number of genetic tests available, most of them from large public and private pathology laboratories.
The range of genetic tests offered by alternative laboratories is also rapidly increasing, some of them performed in-house and many being sent overseas to commercial providers in the US or elsewhere.
Since July 2017, local laboratories developing and offering genetic tests in-house must achieve and maintain accreditation by the National Association of Testing Authorities, Australia (NATA). These tests must also meet National Pathology Accreditation Advisory Council performance standards. However, if the test is provided by a laboratory outside Australia then there is no TGA or NATA oversight and the quality of the testing and interpretation of the results is unknown.
Underpinning the rapid rise in genetic testing are the significant drop in DNA sequencing costs and the introduction of devices such as micro-array chips.
Kathryn Phillips, PhD, a professor of health economics and health services research at the University of California San Francisco, and colleagues studied data from Concert Genetics, a health information technology company which maintains the largest test catalogue of available tests from public websites. They also examined a private insurance claims database to check genetic tests covered by private insurance between 2014 and 2017. The investigation found there were about 75,000 genetic tests on the market, with 10,000 unique test types among them.
The types of tests available were classified into groups; prenatal, hereditary cancer, oncology diagnostics and treatment, biochemical, pharmacogenetic, noncancer haematology, human leukocyte antigen typing, neurologic, gastroenterology, identity and forensics, disease risk, cardiology, and paediatric and rare diseases.
According to the genetic testing claims database, prenatal tests (NIPTs and carrier screening) accounted for 33% to 43% of spending on genetic tests, and hereditary cancer tests for about 30%. However, most genetic tests were not covered by insurance – this is especially true in Australia.
The authors of the study also noted that in the US, regulation of genetic tests is variable. Many genetic tests in America are lab-developed tests that do not require FDA [US Food and Drug Administration] approval. They noted that some tests were regulated and some not, which could be problematic.
There are potential problems with some of the new genetic tests, especially those marketed directly to consumers. Associate Professor Ken Harvey of Monash University’s School of Public Health, in an editorial in Australian Prescriber entitled “Retail genetics”
has warned that promotional material sometimes may convey a false or misleading impression regarding the usefulness of the test and the consumers for whom testing may not be appropriate.
The implications for insurability of having testing done are still unclear. Insurance companies are not permitted to compel people to have genetic tests but if people do so voluntarily they may risk future problems.
Customers are required to disclose information that may impact their insurability. Underwritten life insurance products, including cover for life, trauma, disability and income protection which may be required for business and bank loans, could be impacted by a genetic test result.
Genetic tests provided by NATA accredited laboratories in Australia are safe and useful in the right patients or clients. However, there are a very large number of direct-to-consumer genetic tests available from overseas laboratories that may be poor value for money or even useless and misleading. Associate Professor Harvey says: “Health professionals should advise their patients not to purchase these tests from overseas. Patients should also discuss the usefulness of locally promoted tests with their doctor before paying for a test”.