What are genetic registers?

22.2 The primary purpose of genetic registers is to operate as an effective way of identifying and contacting members of families who are at significantly increased risk of developing an inherited disorder or of having affected children.[2] Information on a genetic register will generally comprise genetic information about many genetically related people and may also contain genetic samples.

22.3 Health professionals may need to collect information about an individual’s family medical history in order to provide effective health care (see Chapter 21). In some ways, genetic registers may be seen as an extension of this established part of medical practice. Family pedigrees[3] are documented in greater detail than would be usual in routine medical practice, and are linked to medical information, including genetic test results and tissue samples. The bringing together of pedigrees and medical information about multiple families constitutes a genetic register.

22.4 Each genetic register usually addresses one disorder or a closely related group of disorders. Genetic registers in Australia include those for Huntington’s disease, familial adenomatous polyposis (FAP), Duchenne muscular dystrophy and Fragile X mental retardation.[4]

22.5 Genetic registers are designed to contribute to the provision of health care to family members by undertaking the systematic collection of accurate and up-to-date information over a long period; ensuring that family members have an opportunity to become aware of their risk and testing, prevention, treatment and reproductive options; and bringing together pedigree and medical information relating to individuals, nuclear families and branches of the family in order to construct a single large pedigree.[5]

22.6 Genetic registers may improve risk assessment, provide information about disorder expression in the family, prevent duplication of genetic testing, help validate genetic rest results and facilitate research.[6] While genetic registers may be used to facilitate research, they can be distinguished from human genetic research databases (discussed in Chapter 18) because genetic registers are used primarily in the provision of health care. The information on genetic registers may be used, along with information in other medical records,[7] to assist in genetic counselling. Some registers assist health professionals to provide surveillance for inherited disorders such as familial cancer.

22.7 The National Health and Medical Research Council’s Guidelines for Genetic Registers and Associated Use of Genetic Material[8] (the NHMRC Guidelines for Genetic Registers) distinguish genetic registers from statute-based health data collections, including cancer registers. Each State and Territory maintains a statutory cancer register.[9] The core function of these registers is to measure the incidence or prevalence of cancers in a defined population,[10] rather than to assist directly in health service provision. This chapter does not deal with statute-based health data collections, the regulation of which is governed by the state and territory laws that establish them.

[2] See National Health and Medical Research Council, Guidelines for Genetic Registers and Associated Genetic Material (2000), NHMRC, Canberra, 7.

[3] A family pedigree is a genealogical table showing lines of relationship and descent.

[4] National Health and Medical Research Council, Guidelines for Genetic Registers and Associated Genetic Material (2000), NHMRC, Canberra, 7.

[5] Ibid, 17–19.

[6] Ibid, 17–19.

[7] The NHRMC Guidelines for Genetic Registers note that the following are not considered to be genetic registers: medical records kept by health professionals, hospitals and clinical genetics units; records of research studies, research databases; public health surveillance data sets (such as statutory cancer registers); the results of genetic tests or collections of tissues held by laboratories and blood banks. See Ibid, 8–9.

[8] Ibid, 8–9.

[9] For example, in Victoria the Cancer Council of Victoria operates cancer registers established pursuant to the Cancer Act 1958 (Vic) and in NSW the NSW Central Cancer Registry operates cancer registers established pursuant to the Public Health Act 1991 (NSW).

[10] Some registers have additional functions, such as providing population based cases for case-control or cohort epidemiology studies, or collection of information which can be used to monitor the effectiveness of the treatment and clinical management of cancers.