Genetic testing services provided directly to the public

Direct to the public genetic testing

11.50 In this Report, direct to the public genetic testing refers to two different forms of genetic testing. One form is akin to home pregnancy testing, in which the test is performed and interpreted by the person at home. At present, this form of genetic testing is not available in Australia.

11.51 The second form is a test in which the person collects a bodily sample at home and sends it to a laboratory for analysis. Kits for testing may be made available through pharmacists or other retailers, by mail order or over the Internet. In general, they may be expected to provide: instructions on how to collect and store bodily samples, implements to collect samples (for example, buccal swabs) and vials or other containers in which to store the samples for testing. The samples are forwarded through the mail to the company offering the services, either in Australia or overseas. The testing may or may not be done by an accredited laboratory.

11.52 DNA parentage testing is currently available in this second form by mail order and over the Internet. While the Inquiry is not aware of any Australian businesses that offer such a service outside the context of parentage testing, this is not the case overseas. For example, a United Kingdom biotechnology company, Sciona, has marketed a genetic testing service on the Internet and through The Body Shop retail chain. Sciona claimed that the testing service ‘offers a personalised dietary report generated by combining information from a lifestyle questionnaire and an understanding of your genes’.^[71] For ₤120, customers were sent a self-sampling kit and a lifestyle questionnaire, which were processed to produce a report that claimed to provide individualised recommendations on what to eat to ensure that body and diet work ‘in harmony’.^[72]

11.53 Sciona and The Body Shop were both criticised by GeneWatch UK,^[73] which was concerned that the tests were unregulated and misleading. GeneWatch claimed that Sciona’s genetic tests misled subscribers into thinking that ‘good genes can cope with a bad diet or with smoking or excessive drinking’. It expressed its concern that subscribers were not informed about privacy or discrimination implications.^[74] The Body Shop withdrew the kits from sale through its retail outlets.

11.54 A range of genetic testing kits is available over the Internet from providers in the United States. These include kits claimed to test for genes linked to the development of osteoporosis, heart disease, immune deficiency and obesity.^[75] DNA identification kits have been marketed as a means for parents to collect and store DNA samples at home, which can later be used to trace missing persons.^[76]

11.55 It may be only a matter of time before there is broad public interest in genetic tests, including DNA identification and parentage testing kits, marketed directly to the public in Australia. The Department of Health and Ageing observed in relation to medical testing that:

[t]he current genetic testing environment does not suggest that a wave of individuals will suddenly start to self-refer for testing, although the possibility cannot be discounted in light of previous experience with coronary artery calcium scoring which has been marketed directly to the public in the past.^[77]

11.56 In IP 26, the Inquiry asked whether genetic testing should be available only on the request of a medical practitioner.^[78] Many submissions that addressed this question identified ethical concerns relating to direct to the public genetic testing and suggested the need for further regulation. The Australian Medical Association (AMA) submitted that:

genetic testing should be regulated to ensure that only registered medical practitioners are allowed to request that testing be performed. Genetic testing should not be performed in the absence of counselling. For this reason we are strongly opposed to the availability of ‘home-based’ testing kits due to the significant risk of physical or emotional harm that may result to individuals who submit to genetic testing without this counselling. There is also significant risk of genetic testing being performed on individuals without their consent if home testing kits are allowed. The AMA considers it necessary to enact legislation to ban this type of product.^[79]

11.57 The Department of Health and Ageing recognised the ethical issues raised by direct to the public genetic testing but submitted that there may be ways to address these other than by requiring that genetic testing be obtained only through medical practitioners.

In general, care must be taken not to implicitly assent to a proposition that because genetic testing is a medical service, medical practitioners should ipso facto mediate it. Where individuals do self-order tests, guidelines could assist testing services to meet their ethical obligations in relation to informed consent, e.g., directing consumers to information on pre- and post-test counselling and support services.^[80]

11.58 Similarly, the Office of the Federal Privacy Commissioner (OFPC) submitted that access to mail-order genetic testing cannot be effectively and comprehensively regulated so that testing is conducted only on the request of a medical practitioner and by an accredited laboratory.^[81] The OFPC noted that:

[i]f the sale of mail-order genetic tests and ‘DIY’ test kits by Australian companies continues, there should be widespread and comprehensive consumer education policies devised. There are valuable lessons to be learned from the lawful sale of potentially harmful commodities, such as tobacco and prescription drugs. Consideration may even be given to legislating, as a public health measure, for the provision at the point of sale of appropriate information about the tests and the implications of the results obtained. Such consumer education would have the added benefit of ensuring the informed consent of the individual, an important element of information privacy principles.^[82]

Overseas developments

11.59 The regulation of direct to the public genetic testing has been the subject of deliberations in other jurisdictions. In 1997, an Ontario report concluded that Canadian federal standards for approval of genetic testing should be carefully examined and monitored and that the federal government should ensure that ‘direct to consumer marketing of genetic testing should at minimum be clearly circumscribed if not entirely prohibited for certain forms of testing’.^[83] A similar conclusion was reached by the US National Institutes of Health Task Force on Genetic Testing, which recommended that advertising or marketing of predictive genetic tests to the public should be discouraged.^[84]

11.60 The United Kingdom Advisory Committee on Genetic Testing (ACGT) prepared a Code of Practice in respect of genetic testing services supplied directly to the public.^[85] The ACGT concluded that direct provision of testing should be limited in relation to testing for inherited dominant and X-linked disorders and adult-onset genetic disorders.^[86] The Code of Practice is voluntary and there are no legal sanctions for failing to comply with it.

11.61 In July 2002, the United Kingdom Human Genetics Commission (HGC) released a consultation paper on the supply of genetic tests direct to the public.^[87] The consultation paper noted that the technology of genetic testing has become simpler and more readily available, making rapid and relatively inexpensive genetic testing a reality, and that this development has been accompanied by a ‘growing understanding by the public of medical information’ and ‘a corresponding desire to make health decisions on the basis of information directly acquired and understood by the patient’.^[88]

11.62 The consultation paper noted that genetic testing services supplied direct to the public in the United Kingdom are regulated by a mixture of specific and non-specific regulation and voluntary compliance mechanisms, including the ACGT Code of Practice, laboratory standards, professional self-regulation, and consumer protection legislation. The HGC identified four options for future regulation of direct supply of genetic tests: no specific regulation; voluntary regulation; voluntary regulation with restrictions on the types of test that can be offered; and strict regulation.^[89] The content of the final report was discussed at an HGC plenary meeting in February 2003. An HGC statement indicated that it is likely the HGC will recommend a ‘mixture of new controls and safeguards’ according to the seriousness of the test:

For example, serious predictive genetic tests should generally be available only after medical consultation, while other tests may be suitable for wider access, e.g. diet-related tests. The commission is likely to recommend that the new Medicines and Healthcare Products Regulatory Agency (MHRA) is responsible for making these kinds of decision.^[90]

11.63 The European Group on Ethics in Science and New Technologies has also issued a statement warning that the mass marketing of genetic tests raises ethical, social and legal problems that require urgent attention. The Group expressed its concern about misleading and incomplete information being provided by marketers of tests, and about testing without consent (particularly in the case of parentage testing). The Group observed that advertising of genetic tests ‘tends to convert them into commodities’ and to give rise to a demand for genetic testing which may result in social disruption and personal conflict.^[91]

Regulating direct to the public genetic testing

11.64 DP 66 identified two options for reform to regulate direct to the public genetic testing.^[92] These involved implementing one or both of the following:

• amending the Therapeutic Goods Act 1989 (Cth) (Therapeutic Goods Act) and regulations to ensure that the supply and advertising of genetic tests directly to consumers is prohibited in Australia, except where specifically approved by the Therapeutic Goods Administration (TGA);
• making an appropriate body (such as the HGCA)^[93] responsible for developing Codes of Practice and other advice on direct to the public genetic testing, including advice to the TGA on the regulation of genetic testing under its Act.

Therapeutic Goods Act and Regulations

11.65 The TGA is a Division of the Department of Health and Ageing with overall responsibility for administering the provisions of the Therapeutic Goods Act. The Actprovides the legislative basis for a uniform national system of controls for therapeutic goods, including medicines, medical devices and other therapeutic goods such as ‘diagnostic goods for in vitro use’ (also called in vitro diagnostic devices, or IVDs).

11.66 These controls are primarily effected through regulation of the quality, safety, efficacy and timely availability of therapeutic goods; setting standards that the goods are required to comply with, and minimising any risk of misuse, inappropriate use, or unsafe use of the goods; and by regulating how the goods may be advertised. Unless specifically excluded or exempt, therapeutic goods may not be manufactured in Australia, supplied on the Australian market, or exported, unless included on the Australian Register of Therapeutic Goods (ARTG).

11.67 Therapeutic goods are defined in the Actas ‘goods that are represented … for therapeutic use’.^[94] Therapeutic use means use in or in connection with:

1. preventing, diagnosing, curing or alleviating a disease, ailment, defect or injury in persons or animals; or
2. influencing, inhibiting or modifying a physiological process in persons or animals; or
3. testing the susceptibility of persons or animals to a disease or ailment; or
4. influencing, controlling or preventing conception in persons; or
5. testing for pregnancy in persons; or
6. the replacement or modification of parts of the anatomy in persons or animals.^[95]

11.68 At present, therapeutic goods are classified as ‘registrable’ or ‘listable’ on a product-by-product basis. Registrable therapeutic goods are generally higher risk products and must undergo evaluation by the TGA prior to being included on the ARTG. When determining whether registrable goods should be included in the ARTG, the advice and recommendations of ministerially-appointed evaluation committees established under the regulations may be taken into account. The TGA may impose conditions on the registration or listing of goods, including conditions relating to their use and supply.^[96]

11.69 The Therapeutic Goods Act and the Therapeutic Goods Regulations 1990 (Cth) (Therapeutic Goods Regulations) contain provisions that regulate the advertising of therapeutic goods. Advertisements for all therapeutic goods must comply with Part 2 of the Therapeutic Goods Regulations and with the Therapeutic Goods Advertising Code. A range of sanctions may be applied to non-conforming advertisements.^[97]

Current regulation of therapeutic goods used in genetic testing

11.70 Therapeutic goods used in genetic testing, whether sold as individual components or as a kit, are considered to be IVDs, which are defined as follows in the Therapeutic Goods Regulations:

diagnostic goods for in vitro use means any therapeutic device which is a reagent, reagent product, calibrator, control material, kit, instrument, apparatus, equipment or system, whether used alone or in combination (with other diagnostic goods for in vitro use), intended by the manufacturer to be used in vitro for the examination of specimens (including blood and tissue donations) derived from the human body, solely or principally for the purpose of giving information about a physiological or pathological state or a congenital abnormality or to determine safety and compatibility with a potential recipient.^[98]

11.71 Only a very limited number of IVDs are required to be included on the ARTG, including tests for HIV and Hepatitis C.^[99] Most other IVDs—except goods for home use, goods that incorporate material of human origin, or goods supplied under the Pharmaceutical Benefits Scheme^[100]—are exempt from the registration and listing requirements of Part 3–2 of the Therapeutic Goods Act.

11.72 The Therapeutic Goods Act and Regulations cover ‘goods for home use’,^[101] which include any therapeutic device intended for use outside a laboratory setting or to be carried out by a lay person—for example a pregnancy test kit purchased in a pharmacy and designed to be carried out at home.

11.73 In the context of genetic testing, products used to provide genetic information may or may not be considered IVDs, depending on their intended use as stated by the manufacturer.^[102] For example, a buccal swab test kit containing implements for collecting and storing a buccal swab would be considered an IVD as it is supplied with the intention that it be used to examine a human specimen, while a pair of tweezers would not be considered to be an IVD unless they were marketed for the specific purpose of genetic sample (hair follicle) collection.^[103]

11.74 The situation is different in the case of goods used in DNA identification testing, including parentage testing. These goods do not fall within the definition of a therapeutic good because their intended purpose is not covered within the scope of ‘therapeutic use’ and therefore they are not currently regulated by the TGA at all.^[104]

New regulatory framework for IVDs

11.75 The TGA has initiated development of a new regulatory framework for IVDs and an expert advisory group has been established to assist the TGA in this regard. The development of a new regulatory framework is relevant to the future regulation of direct to the public genetic testing, as many genetic tests are considered to be IVDs. The expert advisory group has agreed that the new framework should include the following basic features:

• a risk-based classification system;^[105]
• essential principles for quality, safety and performance, with which all IVDs will have to comply prior to being supplied;
• options as to how compliance with the essential principles can be demonstrated, for example the implementation of a manufacturer quality system or design evaluation;
• the use of recognised standards as a way of demonstrating compliance with one or more essential principles;
• a comprehensive post market surveillance and adverse incident reporting program; and
• the continued use of the ARTG as the central point of control for the legal supply of medical devices in Australia.^[106]

11.76 Thenew regulatory framework for IVDs will not distinguish between products intended for use in a laboratory and those intended for use in the home. It is expected that this may affect the availability of direct to the public genetic testing products.^[107]

11.77 Other issues being considered as part of the development of new IVDs regulation include how to take account of distinctions between tests performed and interpreted by the person at home and tests where samples are collected at home but analysed in a laboratory. Also being considered is the possible expansion of the definition of ‘therapeutic use’ in s 3 of the Therapeutic Goods Act to include parentage and other kinship testing.^[108]

Code of practice for direct to the public genetic testing

11.78 A voluntary code of practice could be developed to complement increased regulation by the TGA of direct to the public genetic testing. Such a code could include minimum technical standards for companies supplying products and minimum ethical standards for laboratories supplying the testing service.

11.79 For example, in the United Kingdom, the ACGT Code of Practice on genetic testing services supplied direct to the public prescribed minimum requirements in relation to testing laboratories, equipment and reagents, confidentiality and storage of samples and records, tests that may be supplied, to whom they may be supplied, customer information, genetic consultation, and the involvement of general medical practitioners.^[109] More recently, the United Kingdom’s Department of Health has developed a voluntary code applying to organisations advertising and providing genetic paternity testing services directly to the public (see Chapter 35).^[110]

11.80 The HGCA would be an appropriate body to develop a code of practice in Australia, in consultation with interested business and health consumer groups. In addition, if parentage and other DNA identification tests were to be regulated by the TGA, the HGCA could provide the TGA, or its statutory advisory committees,^[111] with advice on whether certain categories of testing should be approved and on what terms.^[112]

Inquiry’s views

11.81 Submissions generally supported more stringent regulation by the TGA of direct to the public genetic testing,^[113] including for parentage and other identification testing.^[114] The availability of direct to the public genetic testing raises a range of concerns. These include the following:

• error and fraud are more likely where the collection of a genetic sample is conducted without the supervision of a medical practitioner or the testing laboratory;
• sample contamination may occur because the sample may not have been stored correctly or mailed to the laboratory under optimal conditions, or because the chain of custody of the sample cannot be verified;
• informed consent may not have been obtained from the individual sampled (or from their parent or guardian); and
• individuals are less likely to be provided with appropriate information about the implications of the genetic test or to be assisted in follow-up decision making, and are unlikely to be referred for genetic counselling, when compared with a test that is arranged through a medical practitioner.

11.82 The Inquiry considers that there are strong arguments for regulating the supply, directly to the public, of products used in some forms of genetic testing. The conduct of genetic tests within the home, and even the collection of a sample at home for analysis in a laboratory, raises issues of quality assurance, whether informed consent has been granted, and the real possibility of harm where individuals are not provided with appropriate information about the implications of genetic test results.

11.83 Additional controls for direct to the public genetic testing could include specific labelling or other requirements for genetic IVDs, or the development of criteria that would be used to determine IVDs for which direct consumer access could be approved. In particular, there may need to be unique labelling requirements for some genetic testing products. Labels or product information sheets may need to include information about the desirability of pre- or post-test counselling, the need to seek medical assistance in confirming, interpreting or understanding test results, and so on. The approval process for some genetic IVDs may need to reflect the implications of self-diagnosis for the health system—where individuals are likely to subsequently arrange a medical consultation to verify or explain test results.^[115] These are all matters suitable for regulation by the TGA.

11.84 The Inquiry has also concluded that IVDs used in DNA identification testing, including parentage testing, should be regulated by the TGA, in a similar way to IVDs. This would allow the TGA to refuse approval where, for example, the goods are not safe for the purposes for which they are to be used, the presentation of the goods is unacceptable, the goods do not conform to applicable standards, or the goods do not comply with prescribed quality or safety criteria.^[116]