HeLEX response to: ‘A Common Framework of Principles for direct-to-consumer genetic testing
Part of HeLEX's mission is to take a proactive approach in engaging with the important policy questions relating to emerging health care technologies and its regulation.
The Human Genetic Commission recently released a consultation document on a Common Framework of Principles for direct-to-consumer genetic testing services. As a key interest of HeLEX, our researchers have produced a response to the below key questions posed by the Human Genetic Commission:
6. Are there any principles that are applicable to certain genetic tests that you consider should not be
applied to that test? Specifically, do you consider the amount of information that test providers will
be expected to provide to consumers to be excessive for some tests? Is it necessary for test providers
to provide all the following information to consumers regardless of the tests they offer:
• specific information about genetic tests offered
• information about the presentation of results in statistical form, such as relative and absolute risk assessments,
so that an individual can understand test results that are provided
• information about measures taken by the test provider and laboratories to ensure the confidentiality of personal
records and security of biological samples
• information about the maximum period of storage of the biological sample and personal records, and
procedures for storage, transfer and disposal of biological samples and personal records
• information about whether biological samples may be used for any secondary purposes, such as additional
research purposes, and about or whether personal genetic information may be passed on to third parties and, if
so, under what conditions
• information about procedures for handling and resolving consumer complaints
In addition, test providers will have to employ an appropriately qualified professional, with recognised training and
qualifications, who is regulated by an appropriate professional body to take responsibility for ensuring that
consumers are provided with all the information
9. After discussions within the working group the following principle was not included:
“A test provider must take whatever measures are necessary and appropriate to ensure that an
individual has provided informed consent and has capacity to provide that consent for a genetic test.”
Do you think this principle should or should not be included?
Such a principle would expect test providers to have a dialogue with the consumer, prior to testing, to establish
that the individual has understood the information they have received or read about the test. As the Principles
recommend that certain genetic test results should only be provided either with individualised pre- and post-test
counselling or within the context of a consultation with a genetics health professional, the principle above may not
be considered necessary. For tests where the results have the greatest potential risks, a genetics health
professional will be able to explain the test results to the consumer and ensure they understand the significance of
any results. If the requirements for pre- and post-test counselling and the involvement of a genetics health
professional (principles 1.3 and 10.1) are removed, then there may be a greater need for this principle.
10. Are any of the principles impossible to apply in your jurisdiction given existing national legislation
or regulatory constraints?
The Principles have been written broadly so that they can be applied across different jurisdictions. If we have
overlooked legislation or regulation that exists in your jurisdiction, we would appreciate details of this legislation
or regulation or website/contact details where we can obtain this information for ourselves.
11. Do you believe that test providers should sign up to the Principles and what costs do you expect
will be incurred by complying with the Principles?