What is ‘genetic information’?

Apparent or inferential information

3.2 In one sense, almost all information about a person’s health and physical well-being can be called ‘genetic information’. A casual glance reveals information about a person’s gender, race, height, weight, and other features that are related, in whole or in part, to that person’s genetic inheritance.

3.3 Doctors and insurers have been using general family medical histories for over 100 years to draw inferences about the present and future health of individuals. Medical and health practitioners were making clinical observations about genetic conditions long before the technology was developed to test directly for such conditions. Similarly, information that a person has high blood pressure, high cholesterol levels, diabetes, or cancer may also provide information about that person’s genetic inheritance.

Genetic testing and genetic information

3.4 In Chapter 10, the Inquiry notes that there are a number of types of scientific tests that may reveal genetic information. Most famously, these now include tests that amplify selected segments of a person’s DNA or RNA using polymerase chain reaction technology, and then analyse the targeted gene sequences in search of ‘markers’ known to be associated with particular genetic traits, conditions or disorders.

3.5 However, other biochemical tests of non-genetic substances (for example, ordinary blood tests for cholesterol) as well as some medical imaging processes may provide strong indicators of particular genetic disorders, particularly in combination with other tests or clinical observations.

3.6 For the same reasons that the Inquiry is reluctant to adopt a hard and fast definition of ‘genetic test’,^[1] we are likewise reluctant to specify a precise or exhaustive definition of ‘genetic information’.^[2] Instead, the Inquiry’s strong preference is to consider the context to determine whether the use of genetic-related information requires any special handling or protection.

The primacy of context

3.7 As technology continues to progress, and DNA testing becomes cheaper, quicker, more accurate and much more prevalent, there will inevitably be more pressure placed on institutional and individual safeguards that are intended to protect privacy, prevent discrimination and uphold ethical best practice. Consequently, many of the recommendations made in this Report relate to ‘genetic information’ gained from DNA (or related) testing, or tissue samples which may be subject to such testing.

3.8 However, this is not invariably the case, and the ambit of the Inquiry must vary according to the circumstances—especially in accordance with the potential mischief that is being addressed.

3.9 For example, the relatively inexpensive heel prick tests—performed on virtually all newborns in Australia—involves the measurement of proteins in the blood spots collected to detect such genetic-linked disorders as phenylketonuria, galactosemia, congenital hypothyroidism, cystic fibrosis and a number of rare metabolic disorders. Newborn screening tests do not involve DNA analysis; nevertheless there are some important issues for this Inquiry in relation to consent to such testing. Even more importantly, newborn screening cards contain blood samples from which genetic information later may be drawn, and the mass testing program over the past 30 years potentially has resulted in a very large, if disorganised, national genetic database.^[3]

3.10 Similarly, nuchal translucency is an imaging procedure that is sometimes performed on a human foetus in utero, to determine the likelihood that the baby will have the genetic condition of Down syndrome. Although nuchal translucency does not involve any DNA testing or analysis, the procedure does provide important genetic information—which must be presented to the parents accompanied by appropriate genetic counselling and support.^[4]

3.11 In the context of risk-rating for insurance purposes, an insurer may wish to collect and use ‘old-fashioned’ genetic information, in the form of family medical history, as well as information drawn from DNA tests. Sound policy and practice must be developed in relation to both sources.^[5] Employers may be interested in whether a worker has a predisposition to a genetic-linked disease or disorder that may be triggered by agents (for example, chemicals or dusts) found in the workplace.^[6]

3.12 Law enforcement officials may be concerned to secure a ‘DNA profile’—a genetic ‘fingerprint’—for use in identifying an individual.^[7] The use of DNA for personal identification is also at the centre of parentage testing.^[8] By way of contrast, scientific researchers generally work with de-identified (or anonymised) samples, since they are seeking trends and correlations across broader populations, rather than conclusions about known individuals.^[9] Similarly, epidemiologists and public health officials are concerned with detecting broad trends and have little use for individual details.

3.13 Even in the context of the clinical uses, the sensitivities surrounding genetic information can vary greatly with the circumstances.^[10] For example, genetic information can relate to a condition that is clinically apparent—such as when a genetic test is performed to confirm a diagnosis with respect to someone who has already exhibited signs or symptoms of a particular disorder. In these circumstances, genetic tests are not distinctly different in nature from other forms of diagnostic testing (such as blood tests, MRI or CAT-scans), but they may be more accurate and convenient. For example, it may be preferable to use a genetic test to diagnose cystic fibrosis in an infant than to use a less accurate sweat test; a genetic test for haemochromatosis is far less difficult and painful for the patient than a liver biopsy.^[11]

3.14 Genetic information also can relate to a condition that is latent—such as when a genetic test is performed on someone who is apparently free of a disorder, in order to predict the likelihood that he or she will, or may, develop the disorder in the future, or may be a carrier for the disease or disorder. As noted in Chapter 10, such ‘predictive testing’ is called ‘presymptomatic testing’ where an individual’s family medical history suggests that he or she may have the genetic disorder, but the symptoms have not yet become manifest.

3.15 Predictive tests raise greater ethical and social concerns than testing conducted for immediate clinical reasons,^[12] requiring among other things:

• careful thought about whether testing ought to performed where no treatment is available, or where the patient is a child;

• much more care in interpretation, both by health professionals and the individuals concerned;

• considerably more attention to collateral uses, and the possibility of breaches of privacy or unfair discrimination; and

• the provision of adequate pre- and post-test counselling and support services.