A crackdown on firms selling gene tests direct to the consumer would come at a cost, argue Daniel MacArthur and Caroline Wright
AS WE enter the era of genomic medicine and affordable whole-genome sequencing, public understanding of genetics is becoming increasingly important. There are few better introductions to the complexities and uncertainties of modern genetics than allowing people to access their own DNA.
Unfortunately, recent attacks on direct-to-consumer (DTC) genetic testing by US regulators may signal a disproportionate crackdown that could limit this access. We believe that regulation is needed, but are worried that it will focus too heavily on 鈥減rotecting鈥� consumers from their own genomes.
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Lauded as Time 尘补驳补锄颈苍别鈥檚 in 2008, personal genome scans have attracted both international attention and criticism. They promise to provide consumers with information ranging from disease risk to ancestry, based on hundreds of thousands of common genetic markers.
Living up to that promise has been difficult. Despite the large amount of information contained in a genome scan, the medical value as of now is extremely limited. Scientists have uncovered only a fraction of the genes involved in complex diseases such as diabetes or rheumatoid arthritis, so risk prediction based on genetics alone is weak and subject to change.
However, the tests can provide potentially useful information including warnings of adverse drug reactions and the possibility of passing genetic diseases on to children, as well as recreational information such as ancestry. The industry has also created some innovative products, such as interfaces for explaining complex risk information and a new model for research in which customers can volunteer to participate in genetic studies.
Although making sense of the information is not straightforward, peering into your own genome can be a powerful education in modern genetics and epidemiology 鈥� just so long as the information provided is accurate and comprehensible.
鈥淧eering into your own genome can be a powerful education in modern genetics鈥�
Are DTC genetic testing companies delivering the goods? You certainly would not get that impression from the recent sabre-rattling of US regulators. In the past couple of months the industry has endured a in which its products were described as 鈥渟nake oil鈥�, a blasting it for inconsistent results and unethical marketing, and to regulate DTC genetics as 鈥渉igh risk鈥� medical devices.
There are legitimate concerns about sections of the industry. Though some DTC genetics companies uphold high standards, at the bottom end of the market assorted disreputable operators offer products based on weak or non-existent science.
However, the US authorities are going over the top, conflating the two ends of the market and exaggerating the dangers of providing genetic information directly to consumers. The risk is that they translate their own hyperbole into heavy-handed legislation without any evidence that it is either wanted or needed.
In general we would argue that people should be free to access their own genetic data unless there is good reason to believe that doing so will cause them harm 鈥� and as long as the information is accurate and transparent.
What is needed is measured regulation that protects unwary consumers, punishes false claims and weeds out fraudsters without destroying the potential of DTC genetics to drive innovation and educate the public.
It is crucial that companies meet stringent standards for the accuracy of their data and use formally accredited laboratories to perform their analysis. They must also ensure that their customers are properly informed about the nature of the information they will receive and its implications and limitations. Customers should have access to expert advice if they want it, although medical supervision should not be a requirement to access your own genome. False advertising, misleading claims and unethical or illegal marketing should be punished.
Companies must also be transparent about the science underpinning their results. A central database of genetic tests being developed by the US National Institutes of 91色情片 would be a natural repository for this information, and submission of supporting evidence to such a database should be mandatory.
These needs could be met with minimal regulatory changes: standards for testing laboratories already exist in the US, and punishment for false advertising simply requires greater engagement by consumer watchdogs.
As the drama unfolds in the US, there are signs of a more measured response in the UK. On 4 August, the Human Genetics Commission published a for DTC genetics that lays out guidelines in areas such as accuracy, consent and data protection. While the framework is non-binding, it is intended to serve as the basis for formal regulation.
We don鈥檛 yet know what role personal genomics will play in the future of medicine. However, we do know that it has great potential for innovation and education, and we must ensure that neither excessive regulation nor medical paternalism get in the way.
