Issues and problems

24.52 Population genetic screening programs give rise to a range of ethical, privacy and discrimination-related concerns. Individuals can experience anxiety on receiving test results, particularly if the information means they will be faced with difficult choices, such as the possible termination of pregnancy. Consent and counselling issues are important. Screening may reveal the genetic status of family members who have not chosen to be screened, raising concerns about privacy and the ‘right not to know’. Screening may result in stigmatisation of certain genetic disorders. Those who refuse to be screened may also suffer social stigmatisation.^[54] The information generated may have implications in contexts other than health, for example in employment and insurance.

24.53 Many of the ethical, privacy, and discrimination-related issues raised by population genetic screening programs are similar to those raised by genetic testing more generally. However, screening programs also raise distinct issues. In particular, the large scale or ‘production line element’ of population screening may place time constraints on obtaining consent and providing counselling.^[55] Test reliability and cost also have distinct implications in the context of population screening programs. A range of privacy, ethical and other issues raised by population genetic screening programs is discussed below, with reference to views and comments expressed in submissions and consultations.

Privacy

24.54 Population screening for genetic conditions generates genetic information about individuals. People may wish to keep their genetic information private, and may be concerned that screening programs will lead to others—such as family members, employers or insurance companies—being informed that they have a genetic condition.

24.55 As in other contexts, the privacy issues raised by population genetic screening programs include those that derive from the familial or collective nature of genetic information, and from the need to respect the right not to know (see Chapter 7). If an individual participates in a screening program and learns that he or she has a genetic condition, this may indicate that family members (genetic relatives) also have the condition or are carriers. This raises issues in relation to disclosure of information by health professionals to genetic relatives and genetic relatives’ rights of access to this information (see Chapter 21).

24.56 Some submissions raised concerns about the privacy of the information collected and stored by population screening programs.^[56] Others argued that privacy concerns could present a barrier to population screening of disorders for which there are effective and available treatments.^[57] The Office of the Federal Privacy Commissioner (OFPC) emphasised the need to protect the privacy of participants in screening programs.^[58]

Since population screening will give rise to large aggregations of genetic and other personal information, particular attention should be given to proposals for the use of that information for research or other secondary purposes to ensure that the privacy interests of participants are respected.^[59]

24.57 The OFPC asserted that the Privacy Act provides a ‘robust and flexible framework for genetic privacy’ for the purposes of population genetic screening.^[60] The HGSA also submitted that the current regulatory system appears to provide adequate protection for genetic information collected in population screening programs.^[61]

24.58 The Inquiry has concluded that, given the recommendations in this Report for reform of the Privacy Act and harmonisation of federal, state and territory information and health privacy legislation as it relates to human genetic information,^[62] no additional reform of privacy law is required to address issues raised by population genetic screening programs specifically.

Right not to know

24.59 The familial nature of genetic information means that participation in a screening program may reveal information about an individual’s relatives, who may not wish to know their genetic status.

24.60 Protection of the right not to know is important where individuals are screened for conditions that have no cure or effective treatment.^[63] While some people may wish to be screened for all kinds of conditions, others may wish to know their results only where the knowledge will enable them to take action to prevent or treat illness.

24.61 Screening newborn infants and children raises particular issues. If children are screened at birth, parents may be better able to understand their child’s condition and make more informed decisions about later reproduction. However, the knowledge may place significant burdens on parents and child, especially where the condition is known to develop late in life. Individuals who are screened at birth or in early childhood may be given genetic information that they would prefer not to know. Children may have particular problems dealing with the psychosocial effects of knowing that they have a genetic condition that will not cause symptoms until later in life. For this reason, children are rarely tested for late-onset disorders.

24.62 Related concerns arise from the fact that an applicant for insurance is obliged to disclose every matter that is known to be relevant, or which reasonably ought to be known to be relevant, to the insurer. Where an individual is aware that he or she underwent a genetic test as a child, that individual is obliged to disclose the results for insurance purposes, if relevant to the risk, with possible adverse insurance consequences.^[64] These matters are discussed in Chapter 26.

Consent and counselling

24.63 Individuals should not participate in testing as part of a population genetic screening program without giving informed consent. Where the program involves a research component, consent to participation in research should be obtained (see Chapter 15).^[65] As genetic testing can yield information that is distressing to the recipient, whether they are the parent of an affected child or are themselves the subject of the test, adequate counselling should be made available both before screening and after receipt of test results.

24.64 The Institute of Actuaries of Australia observed that procedures for obtaining consent and counselling in population genetic screening programs may ‘have to be more standardised than is best practice for testing of an individual or family in a clinic’.^[66] Nevertheless, the need for voluntary and informed participation in population screening programs remains critical, despite the benefits such programs may produce.^[67] There may be a tension between the ethical consideration of individual autonomy and the utilitarian justification of the social good. Participants should be made fully aware of the implications of their involvement, including that in some circumstances they may be required to reveal the results of a screening test to insurers. In general, the OFPC submitted that there was ‘a need for greater education and counselling to enable those individuals involved in screening programs to understand the implications of their participation’.^[68]

24.65 Where testing is offered by members of the medical profession, particularly in a hospital or other health service environment, individuals may feel obliged to follow what they perceive as a requirement or strong recommendation to take the test. In these circumstances, questions may be raised about whether consent is properly obtained. Consent for newborn screening is an example of this problem because consent is often obtained in hospital during labour or shortly afterwards. While parents are provided with information leaflets about newborn screening by hospital authorities, there is no formal check that they have read and understood them.^[69] Doubts have been expressed about whether this constitutes proper consent.^[70]

24.66 Professor Loane Skene has suggested that the process of obtaining consent to newborn testing in Australia is more akin to ‘informed refusal’ than ‘informed consent’ because parents are informed about the test and may refuse it, but are otherwise taken to consent.^[71] A registered nurse has been quoted as referring to the consent process as involving ‘uninformed nondissent’ because many women do not understand what they are consenting to when they agree to their newborn being given a heel-prick test in the highly stressful situation of delivering a baby. She stated that ‘most of them don’t get it … [t]hey don’t even remember it’.^[72]

Reliability and cost

24.67 In the United Kingdom, the NSC has noted that ‘it is because screening is rarely precise that much of the potential for harm may come’.^[73] Genetic tests performed as part of a screening program should produce reliable and accurate results. Screening may cause unnecessary trauma and inconvenience if individuals are supplied with incorrect information about their genetic status. Lack of reliability will also render any population health information generated by the program scientifically unsound.^[74]

24.68 Screening tests can produce two main categories of unreliable result:

• False positive. The results indicate that the person has a genetic disorder when they do not. Individuals may undergo unnecessary treatment and suffer the anxiety of thinking they are ill.

• False negative. The results indicate that the person does not have a genetic disorder when they do. Individuals may ignore the symptoms of the disorder as they develop, thinking themselves to be healthy, and appropriate treatment may be delayed, with potentially serious consequences. Individuals may also continue with unhealthy behaviour where they have been found clear of genetic risk factors that can be offset by lifestyle changes.

24.69 In its submission, the HGSA highlighted the need for reliable screening tests. The HGSA stated that new tests for use in the public health arena ‘should be assessed for utility, sensitivity, specificity and likelihood of facilitating the desired outcome’.^[75] Assessment should continue throughout the early stages of the implementation of a screening program to ensure these desired outcomes are being met. The HGSA/RACP policy statement provides that screening program performance should be assessed regularly, including assessment of test sensitivity, specificity, positive predictive value, timeliness of reporting, and outcome of diagnosed patients.^[76]

24.70 Screening for haemochromatosis is an example of a program that has been criticised for offering a test with insufficient predictive power. There is still scientific and medical debate as to whether there is sufficient correlation between having the genetic mutation tested for, and developing the consequences of haemochromatosis.^[77]

24.71 While population screening programs can produce long-term benefit in reducing disease, they may over-burden health care systems in the short-term. This may occur where individuals are identified as suffering from a condition that the health care system is not fully equipped to cope with. For example, the cost of treatment may not have been budgeted for, or counselling services to deal with the needs of recently diagnosed sufferers may not be sufficient.

24.72 Medicare funds only a small number of genetic tests (see Chapter 10) and this may act as a barrier to implementing some screening programs and as a disincentive to preventive screening in general practice.^[78]