Blackman, Lani --- "Genetic Information - Privacy and Discrimination" [2001] ALRCRefJl 10; (2001) 78 Australian Law Reform Commission Reform Journal 39

---

Reform Issue 78 Autumn 2001

This article appeared on pages 39– 44 & 72 of the original journal.

Genetic information - - privacy & discrimination

In February, the federal Attorney-General and the Minister for Health and Aged Care formally asked the Australian Law Reform Commission and the Australian Health Ethics Committee to undertake a joint inquiry into the protection of human genetic information.

Lani Blackman* takes a preliminary look at some of the issues that will be addressed by the review.

The terms of reference for the genetic information inquiry ask the Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee (AHEC) to report on whether – and to what extent – a regulatory framework is required to protect the privacy of human genetic samples and information, and to provide protection from inappropriate discrimination on the basis of genetic information. This is to be done in a way that reflects the balance of ethical considerations relevant to the collection and uses of human genetic samples and information in Australia, while taking advantage of the benefits and potential benefits of the scientific and medical applications of the new technology.

The federal government’s decision to opt for a joint inquiry reflects the array of legal and ethical concerns surrounding this contentious new field. While the ALRC has experience in dealing with legal issues that involve ethical considerations, it was considered that the specialist expertise of AHEC in medico–legal matters would be invaluable.

AHEC is a principal committee of the National Health and Medical Research Council (NHMRC). It advises the NHMRC on ethical issues relating to health, and is also responsible for developing guidelines for conduct of medical research involving humans, and additional guidelines for ethical conduct in the health field as required. Some of its recent work has included the National Statement on Ethical Conduct in Research Involving Humans (1999), Guidelines for Genetic Registers and Associated Genetic Material (1999), and Ethical Aspects of Human Genetic Testing – an Information Paper (2000). Dr Kerry Breen, the Chair of AHEC, and Associate Professor of Law Colin Thomson, the Deputy Chair, will work closely with ALRC Commissioners throughout the inquiry to integrate medical, scientific, ethical and legal expertise and perspectives.

Genetic information

Advances in our understanding of genetic science have led to an increasing amount of information about the structure of our genes. Genes that are the cause – or the potential cause – of many genetic disorders have now been identified. Genetic disorders may be monogenic – the result of a variation in a single gene (for example cystic fibrosis, thalassaemia and haemophilia), polygenic – the result of a variation in two or more genes (for example cleft lip and palate, congenital heart malformations), or multifactorial – the result of a combination of variations in one or more genes together with environmental factors and chance events (for example diabetes, cancer and psychiatric disorders). Most diseases are multifactorial. In these cases identification of genetic variation does not necessarily increase the precision of our predictions about future disease, but may encourage a change in lifestyle in an attempt to avoid future problems.

Genetic information can be obtained in a number of ways.

Collection of information about a person’s family history reveals genetic information about the person and their family. This is still the most common method of gathering genetic information. Genetic testing also may be conducted through scientific processes to reveal direct genetic information. This could be a test to identify indications of the presence of the disease itself (for example a test for blood cholesterol levels to identify familial hypercholesterolaemia), or it could be the more complicated process of ‘flagging’ DNA to identify genetic abnormality. We can analyse genetic information to confirm a diagnosis that someone has a particular disorder, or to determine the likelihood that someone will develop a disorder in the future (in some cases tests are performed on the foetus during pregnancy). The accuracy of our predictions will depend upon whether the disorder is monogenic, polygenic or multifactorial, and the knowledge we have about certain disorders.

Our knowledge about genetic disorders – who has them, who will get them, and how to treat them – has expanded dramatically. The recent publicity surrounding the Human Genome Project highlights the extraordinary increase in our understanding of biogenetics in a short time frame. However, with every advance in scientific knowledge there are concerns about how that knowledge will be used. The aim of the ALRC and AHEC inquiry is to determine whether and how the law should be used to limit uses of genetic information due to ethical or legal concerns.

A changing landscape

Concerns about the uses of genetic information are not new. The extent to which genetic information should remain private, and the ability to treat somebody differently on the basis of their genetic information, are matters which have been debated extensively in the United States, Canada and Europe. In Australia, privacy issues relating to genetic technology were identified in the 1992 report of the House of Representatives Standing Committee on Industry, Science and Technology entitled Genetic Manipulation: the threat or the glory? This led to the federal Privacy Commissioner completing an information paper, The privacy implications of genetic testing, in 1996. The Privacy Commissioner recommended a coherent and consultative approach to developing policy on privacy questions raised by genetic testing.

Broad public debate in Australia came about with Senator Natasha Stott-Despoja’s Genetic Privacy and Anti-Discrimination Bill, which was first introduced to the federal parliament in March 1998. This Bill was based on model genetic privacy legislation developed by academics at the Boston University School of Public Health (which has influenced genetic privacy laws introduced in some of the US States). The Stott-Despoja Bill was considered by the Senate Legal and Constitutional Committee, which received more than 50 submissions from the public. In its March 1999 report on the Bill the Committee considered that as genetic technology is still in development it was premature to regulate on genetic privacy and anti-discrimination and recommended further examination of the issues.

In August 1999, the Investment and Financial Services Association (IFSA), which represents 98 per cent of the life insurance industry in Australia, lodged applications with the Australian Competition and Consumer Commission (ACCC) in relation to its draft policy on genetic testing. While originally rejected by the ACCC, an amended application focused on the clauses of the policy that stated that IFSA members would not require applicants for life insurance to undergo genetic testing, and that they would not induce such testing by offering discounts on standard rates based on favourable test results. The ACCC originally rejected the applications amid concerns that the insurance companies would be acting anti-competitively by not reducing premiums when presented with a negative genetic test. Others argued that allowing (or requiring) the insurance companies to offer reduced premiums would in effect force applicants to undertake genetic testing. Following submissions from the public, and the announcement in August 2000 that the ALRC and AHEC would be asked to undertake an inquiry on these issues, the ACCC approved the amended application until December 2002. The policy has been put into place by IFSA. This policy does not, however, affect the existing law that requires applicants to disclose results of genetic tests to insurers.

In mid-2000, separate studies by genetic counsellor Dr Kristine Barlow-Stewart and post-graduate student David Keays revealed cases of alleged discrimination by Australian insurers and employers on the basis of a person’s genetic information.¹ The studies suggested that in many cases the alleged discrimination was inappropriate, being based on misinformation or lack of understanding of genetic disorders. They also highlighted public concern about the possible detriments of otherwise beneficial genetic testing and the effects on the individual.

Genetic technology, and our understanding of genetic information, is still developing and is unlikely to plateau in the near future. The ALRC and AHEC need to consider any existing need for law reform in the context of this changing landscape. Any recommendations must have the required flexibility to meet this challenge, and will likely need to be revisited as our understanding of genetic information expands.

The nature of genetic information

One of the issues confronting the ALRC and AHEC is the question of whether genetic information requires different treatment from other information about a person. Some argue that the nature of genetic information makes it qualitatively different from all other personal information. Genetic information contains information not only about the individual, but also about blood relatives in succeeding and preceding generations – indeed, in some cases this extends to entire communities or countries (for example Iceland, Tonga). At the same time, each individual has a unique DNA sequence, which can be used to identify that individual. It can be stored and re-examined over time.

On the other hand, some argue that genetic information should be treated the same way as all other medical information. While genetic information reveals a lot of data about an individual, other non-genetic factors reveal just as much if not more about the individual’s life. It is the combination of genetic information with other identifying information that makes it of particular importance. Medical information receives special treatment with regards to privacy laws and policies in many jurisdictions, and it can be argued that this additional level of protection is all that is required for genetic information.

Yet others suggest that, while genetic information is not necessarily different to other medical information, society currently reacts to genetic information as if it were something special. While genetic information retains this ‘novelty’ value, there may be a need to provide additional protections from misinformation, misunderstanding and misuse.

Each of these arguments will influence the eventual recommendations of the ALRC and AHEC.

Privacy

Privacy legislation currently applies to the federal public sector,² and the ACT and NSW public sectors.³ Information privacy principles are in place in South Australia and Tasmania, although they have no legislative force. Victoria is currently considering privacy legislation. A number of jurisdictions also have legislation or policy guidelines that apply specifically to health information and information handled by health workers – which may provide protection for genetic information in certain cases.⁴

Recently, the federal government also passed the Privacy Amendment (Private Sector) Act 2000, which sets out National Privacy Principles. Private sector organisations can develop voluntary privacy codes consistent with the National Privacy Principles; otherwise the National Privacy Principles will apply. The Act creates a category of ‘sensitive information’, which attracts a higher level of protection than other information. ‘Health information’, which is defined in the Act, is classed as sensitive information. Genetic information is not dealt with separately under the Act.

The ALRC and AHEC will consider whether genetic information requires separate treatment under this Act, and the extent to which genetic information requires additional protection in the public sector. There is little evidence of widespread mishandling of personal genetic information in a clinical setting, no doubt due to the emphasis placed on doctor-patient confidentiality by medical ethics. However, there are a number of specific questions that arise from the handling of genetic information in the context of privacy.

Consent to genetic testing. As genetic testing is usually done in a clinical environment, health professionals are aware of the need to obtain informed consent. Genetic testing requires the taking of a sample from a person, such as a blood sample, a swab of cells from inside the mouth, or in some cases a piece of hair. Issues arise where the testing is done outside of a normal health environment, such as in recent legislation which provides for mandatory taking of samples from serious offenders in prisons, or in relation to paternity cases where the taking of the sample is not conducted in a clinical environment and/or where there are concerns about the chain of custody of the sample. There will also be concerns about the way in which patients are informed about their right to consent to the test, and any counselling that should accompany genetic testing.

As most samples can be stored for long periods of time without deterioration of the DNA, there are also issues about the use for which the sample will be used beyond the initial testing and the level of identification that will be attached to the DNA sample. Genetic research relies on access to DNA samples, yet there are often concerns about whether the initial consent encompasses these secondary uses.

Of particular interest will be the issue of consent when testing children or persons with reduced capacity to give informed consent. In some cases a test may be conducted for the benefit of a blood relative rather than for the direct benefit of the child or person. The testing of newborns is already conducted on a regular basis in Australia, with blood spots collected and stored (these are commonly referred to as ‘Guthrie Spots’). At present, the testing of Guthrie Spots is limited to known diseases that can be treated in early childhood for the benefit of the child. Parents can object to the test being conducted, although there are questions about the level of ‘informed’ consent given by the parents in these situations. Further questions arise about the use of Guthrie Spots once this newborn testing is completed. While there may be great benefits in using them for genetic research, there are concerns about the level of consent provided for this secondary use. There are also concerns about the possible future use of Guthrie Spots in relation to law enforcement.

Disclosure to family members. As already noted, genetic information provides information about blood relatives of the individual. There are critical ethical arguments about whether family members should be informed where information gained from a test on an individual has an effect on that family member (for example, where there is a risk that the family member has a genetic disorder, or there is an intended or current spouse/partner whose children may be at risk of inheriting a disorder). There may also be cases where a patient has a sample that has been stored, and blood relatives are seeking access to that sample at a later date (perhaps even after the patient has died). At present, the duty of a health professional is to the patient, not to the patient’s relatives. In many cases the patient and health professional will be able to discuss the issue and to have the information disclosed to family members with the patient’s consent. The nature of genetic information does, however, raise the argument that family members are entitled to have access to this information.

Law enforcement. Genetic information has been utilised for its identification properties in the area of law enforcement for a number of years. More recently, a national DNA database (CrimTrac) has been established to facilitate law enforcement activities across Australian jurisdictions. The federal government and the states and territories have been amending legislation to enable mandatory collection of samples from prisoners convicted of serious offences. The samples are to be added to the national database and made accessible for identification of suspects in relation to past and future crimes. The establishment of the DNA database, and the amending legislation enabling collection of samples, have been the subject of extensive consultation. This inquiry will provide an opportunity to ensure that principles of genetic privacy in the law enforcement area are consistent with those recommended for other areas where genetic privacy is of concern.

Discrimination

There may be a number of valid circumstances in which it should be permissible to disclose a person’s genetic information to a third party. However, concerns have arisen about the use of genetic information that results in unlawful or inappropriate discrimination against the person.

It is questionable whether discrimination on the basis of genetic information is covered by anti-discrimination legislation in the various Australian jurisdictions. While in some cases the genetic disorder may fall within the definition of ‘disability’, there may be other circumstances in which this is not the case. Some individuals with a genetic disorder may not wish to consider themselves as having a ‘disability’. The ALRC and AHEC will be considering the effect of existing anti-discrimination legislation in relation to genetic information, and whether broader or different protections are required.

There is also a need to consider circumstances in which legitimate differentiation is not inappropriate discrimination. At present, most anti-discrimination legislation provides an exception in relation to insurance policies, provided that the discrimination is based upon actuarial or statistical data on which it is reasonable to rely. This acknowledges that the business of insurance is predicated on risk assessment, and that differentiation is a necessary aspect of insurance. (It should be noted that legislation in Australia requires private health insurance to be determined by a community rating, and therefore genetic information is not taken into consideration for such policies. Risk assessment is, however, an aspect of other forms of insurance.)

The ALRC and AHEC will be looking at potential discrimination in areas such as insurance, employment, education and the provision of government services. Part of the debate in this area will be about identifying what are ‘relevant grounds’ for discrimination. Some will argue that genetic information, which is obtained by an individual through no fault of their own, should never be the basis of discrimination. However, there will be situations in which a particular genetic disorder will limit an individual’s capacity to perform certain duties, or where there are concerns about public safety. Many of the issues relevant to general discussion of anti-discrimination policy will be relevant.

These are just some of the issues that will be dealt with by the ALRC and AHEC over the coming months. The inquiry process will emphasise public consultation, with the ALRC and AHEC expected to meet with hundreds of interested stakeholders around Australia. Submissions are also welcome. A discussion paper is planned for late 2001, with a final report due to be handed to the Attorney-General and the Minister for Health and Aged Care by 30 June 2002.

*Lani Blackman is the Australian Law Reform Commission’s Manager, Policy and Secretariat.

Endnotes

1. Dr Kristine Barlow-Stewart presented work in progress to the ‘Dolly McBeal Genetics and the Law’ Seminar in Sydney on 14 August 2000. David Keays presented his findings to the Australian Institute of Health, Law and Ethics Conference in July 2000. A joint paper was published in (2001) 8 Australian Journal of Law and Medicine 250.

2. Privacy Act 1988 (Cth).

3. The ACT public sector is bound by the Privacy Act 1988 (Cth). In NSW see Privacy and Personal Information Protection Act 1998 (NSW).

4. See for example, Health Administration Act 1982 (NSW); Health Records (Privacy and Access) Act 1997 (ACT); Health Services Act 1988 (Vic); Health Services Act 1991 (Qld); South Australia Health Commission Act 1976 (SA); NSW Health, Information Privacy Code of Practice (2nd ed December 1998).