DIY Genetic Testing - Is the Genie Out of the Bottle?

August 19, 2014| Von Dr. John Cummins | L/H General Industry, Critical Illness, Life | English

The first sequence of the human genome was made publicly available in 2003. It took international laboratories collaborating over 10 years to complete, at a cost of around US$3 billion.

Technological advances now mean that a human genome can be sequenced for US$4,500 in just a few days. The robust nature of DNA, its ease of collection and portability, has led to the creation of mail-order genetic test services that often have no physician involvement.

These commercial companies target consumers with an offer to test their personal genes for risk of various diseases. Direct-to-consumer genetic testing (DTCGT) promises a personalised risk profile as well as longevity achieved through a tailored lifestyle, medical screening and intervention strategy.

Initially priced at over US$1,000, the fees for DTCGT are now as low as US$99.

These genetic test results could have ramifications for future health risk and conditions claimable on insurance policies. Equally, results from genome sequencing might affect individuals’ ability to procure life and disability insurance.

Worryingly, as a general practitioner is not commonly involved, there is also potential for significant adverse selection against insurers if the genetic test results are not disclosed at the time the application is underwritten.

Although the marketing of health-related genome services directly to consumers has been curbed by authorities in many U.S. states (as well as countries including Australia and Germany), it’s predicted U.S. genetic and molecular biology testing demand could quintuple over the next decade.

Currently, although DTCGT laboratories may generally be competent in doing the test, more problematic is whether the results or their interpretations are meaningful or even accurate.

As a result, these genetic tests are unreliable for risk assessment and are not likely to have much impact on insurance, either as a threat or an opportunity to underwriting. In most cases, family history is at least as informative about an individual’s health risks as genetic testing.

But what if a life and disability underwriter is provided with a copy of the results of a DTC genetic test? It might pay to know why the testing was performed; while it could have been prompted by intellectual curiosity, there could be alternative reasons.

The technology of genetic profiling is moving rapidly. In the longer term, estimates of patients’ risk of disease based on their genomic profiles will change as research advances and will be greatly complicated by the availability of low-cost whole genome sequencing.

It’s important for all of us within the insurance industry to have a basic understanding of the benefits and pitfalls of the technology as well as the legislative and ethical implications.

For more on the implications of direct-to-consumer genetic testing, read my article in the latest issue of Risk Matters Oceania.


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