By Matt Jones
NEW YORK (GenomeWeb News) – A UK government-affiliated group has released a long list of principles for direct-to-consumer genetic testing companies to follow in order to protect consumers from potential harm.
The wide-ranging set of principles covers the purpose and scope of tests, test-makers' marketing claims, the information consumers should have available, test accuracy, data protection, consent issues, sample handling, lab processes, and regulatory information, among other issues.
The principles were developed by a collaborative working group, led by the UK Human Genetics Commission that included representatives from industry, patient groups, genetic counseling groups, regulatory experts, and the UK Department of Health. The aim of the voluntary principles is to "promote high standards and consistency" in the commercial genetic testing industry at the international level, HGC said in a document spelling out the recommendations.
HGC will review the uptake and impact of the principles in the 18 to 24 months following publication, while a "full review" of the content would occur five years after publication.
HGC hopes the principles will "promote high standards and consistency" in commercial genetic testing services, and noted that they are not meant to override any national laws in other countries. They were drafted to identify areas where test providers, professional organizations, and regulators "should have defined measures in place," and to outline what those measures should be.
The range of services the principles cover includes: diagnostic tests, carrier testing, ancestry tests, pharmacogenetic tests, susceptibility and predisposition health tests, phenotype tests, nutrigenetic tests, and prenatal diagnostic tests, but it does not yet cover whole-genome sequencing services.
"Aside from the explicit exclusion of whole-genome sequencing, which will no doubt be included in future revisions, the principles provide a proportionate and comprehensive first step towards best practice in the fledgling consumer genomics industry, and responsible companies will want to sign up," Caroline Wright, head of science at the PHG Foundation, said in a statement.
There are a number of "impact criteria" that test providers should consider, such as if the test is used for diagnostic purposes, the severity of the condition to be diagnosed and the likely impact of the diagnosis on the patient; if used for predictive purposes, the reliability of the prediction; if used for predicting development of progressive disorders, the likely speed of degeneration; the potential for the test to affect the clinical management of the patient/consumer; the potential for the test to provide genetic information about a fetus; the potential for the results of a test to provide health information about a third party, such as a relative, and other related criteria.
One central area of focus for genetic testing in the US has been marketing, and whether the DTC companies are making claims in their advertisements that exaggerate or misrepresent the capabilities of current technologies. The UGC-led group also emphasized marketing in its principles, saying that testers should comply with legislation or codes for medical and genetic tests where they are relevant, should promote accurate technical claims for their tests, and should provide relevant evidence to support their claims, among other things.
Test providers also should release regulatory information, providing peer-reviewed evidence of the association between markers and diseases, conditions, or traits for the tests they provide.
A significant portion of the principles are spent on the information that consumers should be given. Providers should supply "easily understood, accurate, appropriate, and adequate information" in accessible formats before accepting consent for genetic tests, including information about counseling, confidentiality, the scientific basis of genetic tests and the role of genes in disease, and other types of information, according to the principles.
HGC did not want to recommend strong regulations because genetic testing is a global industry being conducted under many flags and different regulatory bodies, Wright told GenomeWeb Daily News today.
HGC "believed, therefore, that the first step should be to develop some sort of code of principles to which the regulation in different countries could be set around [in order to provide] an overarching framework which could guide the regulation in each country and the development of a code of practice," Wright explained.
"It could have a massive impact and really guide the way that regulations in the industry happen, and equally it could have very limited impact because it has no teeth," she said, suggesting that the two-year time period before HGC reviews the policy will give an opportunity for some of these issues to work themselves out.
In terms of its general approach to genetic tests, Wright said, the UK appears to be "favoring a lighter touch in regulation towards these tests" than the US Food and Drug Administration, which has recently signaled that it may regulate DTC genetic tests as medical devices.
She also said that HGC may use the principles to enable the adoption of a wait-and-see philosophy that would not bind genetic testing companies to one regulatory framework in the UK while the US develops its own rules.
Wright said that the range of principles developed by the HGC group are "comprehensive" and that they "are leading towards an ideal of best practices, which I think some of the companies are definitely trying to head towards as well."