Is genetic information special?

3.16 A central concern for the Inquiry is whether genetic information is so fundamentally different from other forms of personal health information that it requires special regimes to regulate its collection, use and disclosure. Three aspects of genetic information call for special comment: it is ubiquitous, familial and often predictive.

The ubiquity dimension

3.17 Information about a person’s identity and genetic status can be gathered from ‘the tiny bits of genetic material we scatter around us without much thought’, such as ‘the cells mixed in our saliva and the bulbs at the base of the hairs we continuously shed’.[13] This is what makes genetic information a potent force for police investigations, where ‘the saliva on a licked postage stamp can help solve a major crime’.[14]

3.18 Every cell in a person’s body, with the exception of sex cells and mature blood cells, contains all of his or her genetic code. Unlike other forms of personal health data, a person’s genetic code is not transitory—genetic information lasts for life. The testing of any biological sample any time can thus reveal the full complement of a person’s genetic information.

3.19 There is also potential for stored genetic samples to be re-tested as new tests are developed, or as our understanding of genetic conditions advances. Thus, genetic information is unusual to the extent that it may be obtained by testing material that is readily available—indeed, virtually ubiquitous—without the knowledge or consent of the person in question.

3.20 While there appears to be a community consensus in favour of the use of genetic material for identification in the law enforcement context, there would be no such comfort in the thought that hairs, or saliva taken from a glass, or mucous or drops of blood from a discarded handkerchief, might be subjected to DNA analysis by an employer, an insurer, a government official, a journalist or a medical researcher, without that person’s knowledge or consent, or some other lawful authority.

3.21 This Report considers whether, and to what extent, protective mechanisms need to be put into place in each of the various contexts to avoid the misuse of genetic information. Parts of this Report also address specific concerns about taking and submitting another person’s tissue samples for DNA analysis, without that person’s consent or some other lawful authority.[15]

The familial dimension

3.22 Each person’s genetic information is unique,[16] but it can also reveal information about, and therefore have implications for, that person’s blood relatives, including those in preceding and succeeding generations. Although some genetic mutations arise spontaneously and can thus be said to be truly individual, most genetic information flows from ‘before the cradle to after the grave’. Sometimes these implications may even extend beyond the family to larger groups of closely-linked people with common ancestry, for example, indigenous, ethnic or ethno-religious communities.

3.23 Moving in the other direction, it may be possible to draw inferences about the genetic information of an individual who belongs to a family or a group, if information is already known about other members of the family or group. Similarly, genetic information is capable of revealing ‘family secrets’, including information about parentage (for example, non-paternity or misattributed parentage), adoption, or the use of artificial reproductive technology.

3.24 Demonstrating that an individual is a carrier of a mutated allele for cystic fibrosis means that one of that person’s biological parents is also a carrier, and that his or her siblings may be affected or may also be carriers.[17]

3.25 The familial nature of genetic information poses certain ethical questions and challenges, both for individuals and families, as well as for those persons and institutions that handle this information, such as medical practitioners, scientific researchers, hospitals, family cancer registers, and others. As sensitive health information, an instinctive reaction is to provide a high level of privacy protection for genetic information. However, to the extent that genetic information has a familial dimension, it can be argued that it is ‘shared’ information, with other family members having rights—or at least interests—in information that may have implications for their own health.[18]Precisely because genetic information is familial in nature, much of it will come as no surprise; indeed, it can often provide great relief to those who receive the data. It is relatively rare that individuals learn of a risk through genetic testing that they did not already anticipate.

3.26 At the same time, some family members may wish to assert a ‘right not to know’ the results of a test taken by a family member to determine the presence or absence of a serious genetic disorder, such as Huntington’s disease, preferring to organise their lives without the shadow of such information.

3.27 As with so many of the issues considered in this Report, resolving such tensions is not easy. It is not a matter of simply vindicating individual rights since the core of the problem is that while each individual’s position may be perfectly understandable, the competing positions must ultimately be subject to some sort of test that carefully balances individual, familial and societal interests.

The predictive dimension

3.28 Other questions for this Inquiry arise from the fact that, until now, individuals and society have not had to deal with predictive information of such quantity. There is no single community view about access to and use of predictive genetic information by family members and people or organisations outside the family.

3.29 Information generated by DNA testing can be very precise, indicating whether a particular allele or mutation is or is not present.[19] However, as discussed in Chapter 2, this precision will often prove unhelpful when it comes to predicting future health. Genetic information tends to be about possibilities rather than certainties, because only a proportion of those people with a particular disease-related mutation will go on to develop the disorder.

3.30 There are greater pressures to discover, gain access to and use genetic information than is the case for traditional health information. Its predictive nature makes it of particular interest in situations where information about a person’s future, even though imprecise, could be incorporated into decision making by the individual or by others, such as employers, insurance companies or public health authorities.

3.31 On the one hand, genetic information has the potential to empower people to make better choices about health and medical care for themselves and their families.[20] On the other hand, there are growing concerns that predictive genetic information and its implications may be misunderstood or misapplied by others who are permitted access to the information, resulting in adverse consequences for the person concerned.

3.32 This may be true even within the context of health care. Genetic support groups, for example, have related instances to the Inquiry in which genetic test information or the nature of a particular genetic condition is poorly understood or poorly communicated by medical practitioners. The Commonwealth Department of Health and Ageing submitted that:

There is … an identified need for general practitioners to be better educated about specific issues relating to genetic testing and the handling of genetic information. A needs assessment among Victorian general practitioners … has identified that current knowledge of genetics among general practitioners is poor and that education and training is needed in technical, clinical and counselling aspects of genetic testing as well as ethical and privacy of information issues.[21]

3.33 In the way of the modern world, people take the name of the genetic condition they believe they may have (based on family history, or a genetic test result, or perhaps even a self-assessment based upon apparent symptoms), type this into an Internet search engine, download a great deal of technical information—and probably scare themselves witless.

3.34 A fascinating literature has emerged in recent years suggesting that ‘even among highly educated [people], the ability to solve basic numeracy problems is, on average, relatively poor’.[22] Research studies demonstrate that even well-educated people have considerable difficulty in understanding or weighing risk or opportunity when presented with figures about relative probability. For example, participants strongly tend to choose a 9-in-100 chance (that is, 9%) of winning a gamble over a 1-in-10 chance (10%).[23] Similarly, participants rated cancer as riskier when described as ‘kills 1,286 out of 10,000 people’ (that is, 12.86% risk of mortality) than when described as ‘kills 24.14 out of 100 people’ (24.14%).[24] It appears that people intuitively react more to the large raw numbers than to the relative percentages. This even extends to the consideration of visual cues:

People assess quantity or probability by using the numerosity of the stimulus object as a judgmental clue. In their size-estimation task, a circle was judged as bigger when it was displayed as an array of numerous pieces in a pizza-slice shape.[25]

3.35 Community and professional education can minimise misunderstanding of and over-reaction to genetic information. This will require further research and clear thinking about how best to communicate information about risk and probability in clinical settings and genetic counselling,[26] as well as in other contexts in which use might be permitted in certain circumstances, such as insurance, employment and forensic contexts.[27]

3.36 The worst result for Australians would be to allow genetic information to be used in such a way as to stereotype people about their future ability to function and the probability that disease will occur, rather than relying on evidence of actual disease and ability.[28] This would create the real risk of establishing a new ‘genetic underclass’ of people who are fit and able, but are locked out of securing insurance, employment or access to other goods, services and entitlements.

3.37 The Commonwealth Department of Health and Ageing has submitted that:

Instances of discrimination based on an individual’s genetic information are known to have occurred. To some degree, such discrimination appears to be due to a significant overestimation of the reliability and predictive capacity of genetic information and to limited knowledge about the interaction between genetic and other environmental factors. These issues need to be actively addressed.[29]

3.38 In respect of insurance, the Anti-Discrimination Board of NSW submitted that:

Assessing the degree of risk on the basis of genetic information is by no means clear cut. The nature of the information varies significantly depending upon factors such as whether the information indicates a predisposition to a disorder that is dominant or recessive and the fact that the degree of symptom expression and time of onset will vary between individuals. These factors will influence the relevance of predictive genetic information when applied to risk rating for insurance purposes.[30]

3.39 In respect of employment, the Australian Council of Trade Unions submitted that:

If genetic testing was allowed, it is certain that it would be misused. First, it would be used to screen out employees who might have only a slightly higher predisposition to acquire a condition than the general population. Many employers would not distinguish between a predisposition and a certainty, while the possibility of false negatives and positives would not necessarily be taken into account.[31]

3.40 Yamagishi also has pointed out that the inability to make proper risk assessments is not merely a problem for individual patients, their families and health care professionals, there is also a broader social dimension. Public officials and policy-makers often make judgments about spending priorities and the systemic use of resources to meet certain risks—while failing to give proper regard to evidence that deploying scarce resources to meet other, far more probable, risks would be more effective and efficient in terms of reducing harm overall.[32]

[13] T Murray, ‘Genetic Exceptionalism and “Future Diaries”: Is Genetic Information Different From Other Medical Information?’ in M Rothstein (ed), Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era (1997) Yale University Press, New Haven, 60.

[14] Ibid.

[15] See Ch 12, Ch 35.

[16] Even ‘identical twins’ have minute differences in their genetic code.

[17] Australian Law Reform Commission and Australian Health Ethics Committee, Protection of Human Genetic Information, IP 26 (2001), ALRC, Sydney [2.75]–[2.86] regarding patterns of inheritance.

[18] Disclosure to genetic relatives is discussed at length in Ch 21.

[19] Assuming that scientific research already has confirmed the particular ‘markers’ that are being tested for.

[20] See G Parasivam, Submission G140, 19 March 2002.

[21] Commonwealth Department of Health and Ageing, Submission G150, 15 April 2002.

[22] I Lipkus, G Samsa and B Rimer, ‘General Performance on a Numeracy Scale Among Highly Educated Samples’ (2001) 21 Medical Decision Making 37, 37–44.

[23] V Denes-Raj and S Epstein, ‘Conflict Between Intuitive and Rational Processing: When People Behave Against Their Better Judgment’ (1994) 66 Journal of Personality and Social Psychology 819, 819–829.

[24] K Yamagishi, ‘When a 12.86% Mortality is More Dangerous than 24.14%: Implications for Risk Communication’ (1997) 11 Applied Cognitive Psychology 495, 495–506.

[25] Ibid, 504. Other studies agree that ‘The traditional use of proportions to express risk in genetic counselling lacks scientific basis. Rates were easier to understand than proportions, regardless of respondents’ age, language and education’: D Grimes and G Snively, ‘Patients’ Understanding of Medical Risks: Implications for Genetic Counselling’ (1999) 93 Obstetrics & Gynecology 910, 910.

[26] See D Grimes and G Snively, ‘Patients’ Understanding of Medical Risks: Implications for Genetic Counselling’ (1999) 93 Obstetrics & Gynecology 910, 910–914; I Lipkus and others, ‘Relationships Among Breast Cancer Perceived Absolute Risk, Comparative Risk, and Worries’ (2000) 9 Cancer Epidemiology, Biomarkers & Prevention 973, 973–975; B Biesecker and J Garber, ‘Testing and Counselling Adults for Heritable Cancer Risk’ (1995) 17 Journal of the National Cancer Institute Monographs 115, 115–118; A Edwards and others, ‘Presenting Risk Information — A Review of the Effects of “Framing” and Other Manipulations on Patient Outcomes’ (2001) 6 Journal of Health Communications 61, 61–82.

[27] See Parts G, H, J.

[28] E Draper, ‘The Screening of America: The Social and Legal Framework of Employers’ Use of Genetic Information’ (1999) 20 Berkeley Journal of Employment & Labour Law 286, 290–291.

[29] Commonwealth Department of Health and Ageing, Submission G150, 15 April 2002, 3.

[30] Anti-Discrimination Board of NSW, Submission G157, 1 May 2002. See also M Otlowski, Submission G159, 24 April 2002.

[31] Australian Council of Trade Unions, Submission G037, 14 January 2002.

[32] K Yamagishi, ‘When a 12.86% Mortality is More Dangerous than 24.14%: Implications for Risk Communication’ (1997) 11 Applied Cognitive Psychology 495, 495–496, 505.