The gene trustee

18.102 The Inquiry suggests that the new provisions of the National Statement should provide guidance, among other things, on the appropriate use of independent intermediaries to hold codes linking genetic samples or information with identifiers. The concept of a ‘gene trustee’, which was referred to in Chapter 16, is relevant in this context.

18.103 The use of a gene trustee could be required, in appropriate situations, as a condition of the registration of a human genetic research database, or as a stand alone reform. A gene trustee system might be able to operate with a single body administering registration and acting as trustee. Persons or bodies taking on the role of gene trustee could also be subject to some system of scrutiny to ensure their integrity and independence from research organisations.

18.104 The model discussed here is based on the gene trustee approach developed for the Sydney Tay-Sachs disease screening program within the Jewish community as outlined in a submission made by the Institute of Community Genetics.^[110] The scheme is based around an independent third party, which controls information used to identify data and samples held within a database. The gene trustee acts as an intermediary between the persons maintaining the database and the individuals who supply their tissue and information.

18.105 Consent to donation of samples and information is given using a three-part consent form. The donor fills out Part A with his or her personal details and provides consent to the storage and use of the samples and information. Part A is marked with a unique personal identification number (PIN) and a unique database control identification number. Part B of the form contains only the database control identification number while Part C contains only the PIN.

18.106 Part A is then separated from the consent form and held by the gene trustee. Samples and information, along with Part B, are supplied to the persons maintaining the database and are stored using the database identification number as the only identifier. The donor of the samples and information is given Part C of the consent form, containing the PIN and contact details of the gene trustee.

18.107 Only the gene trustee can link the donor’s personal information with any samples or information held by the database. If further consent to research is required, the holders of the database must pass the request to the gene trustee who will then contact the individual. Re-consent to future use could be obtained through the trustee, which would hold contact information for donors and details of the consent they have given. Destruction of the linking information held by the gene trustee (that is, Part A of the form) will permanently de-identify all samples and information held on a person in the database.

18.108 The gene trustee could act as a central body that holds linking information from materials held in numerous databases. Alternately, large databases could be required to establish their own gene trustee system. In either case, gene trustees would have to handle linking information in accordance with regulatory requirements.

18.109 The value of this approach lies in the separation of any identifying information from all sensitive data and material held in a database. No matter who obtains access to this material, they will be unable to identify it without contacting the gene trustee, who will be bound not to release any identifying information without the consent of the individual.

18.110 There are, however, a number of problems with this approach. It would present significant administrative costs, particularly where re-consent was sought for numerous samples. It also does not take account of the means by which many research subjects are contacted and asked to donate tissues and information. Often this occurs in a clinical context, where sufferers of a genetic condition are identified by their treating clinician and asked if they would like to participate in research. In other instances, researchers seek out participants through genetic counselling services and clinics. There may not be the initial degree of separation between the donor and researcher that would be necessary to make the gene trustee system workable in all situations.

18.111 The system may have greater value where large research databases are established for broad purposes, like UK Biobank or the Estonian database. The system may also be appropriate where commercial organisations develop databases from patient samples and information acquired from hospitals—a practice that is becoming common in the United States.^[111]

Submissions and consultations

18.112 DP 66 asked whether the use of a gene trustee should be a condition of the licensing or registration of databases. Considerable support for the use of a gene trustee system was expressed in submissions.^[112] The OFPC maintained its support for ‘the adoption of practical mechanisms for the protection of an individual’s privacy, such as a gene trustee’ and commented that such a trustee

offers…an effective, transparent and accountable form of protecting an individual’s health information against the risks inherent in the establishment and operation of large databases.^[113]

18.113 Criticism of the gene trustee system focused on costs.^[114] These concerns were raised both by supporters of the system as well as those who opposed it. The gene trustee system was regarded as unsuitable for smaller and more informal databases. The Human Genetics Society of Australasia (HGSA) submitted that the gene trustee system may be too complex and cumbersome for some smaller databases.^[115] However, the Children’s Hospital at Westmead Tumour Bank stated:

Many institutional tumour banks and tissue repositories that have been established, including our own, are well placed to take on the custodial ‘gene trustee’ role with regards to the use of human tissue in genetic research.^[116]

18.114 Not all human genetic research databases hold sensitive linked information, and hence only some may require an intermediary to protect privacy.^[117] One solution, suggested by the Institute of Actuaries of Australia, is to allow HRECs to decide when the use of a gene trustee is necessary.^[118]

Inquiry’s views

18.115 The Inquiry has concluded that use of an independent intermediary (such as a a gene trustee) is an effective method of protecting the privacy of samples and information held in human genetic research databases. The system works well by maintaining the privacy of samples and information held in databases, while still allowing donors to be contacted if necessary. It avoids the problematic aspects of anonymisation and ensures that anyone who obtains access to samples and information will be unable to re-identify them without the authorisation of the gene trustee.

18.116 The Inquiry recognises that the use of an independent intermediary will not be necessary or practicable in all circumstances. For this reason, the Inquiry recommends that the new provisions of the National Statement provide guidance on when its use will be appropriate, rather than requiring all research databases to establish such a mechanism.

18.117 Where human genetic research databases do not have an established an independent intermediary, it may nevertheless be desirable for HRECs to make the use of such a system a condition of approving research, and the National Statement should provide guidance to HRECs on this issue (see also Recommendation 16–1). In this way, all genetic research involving the use of databases may be made subject to a gene trustee system if that is necessary to protect privacy in the particular circumstances of the research.