Introduction

19.1 This chapter is concerned with the collection, storage, use and disclosure of, and access to, genetic samples and information held in tissue collections maintained mainly by hospitals or pathology laboratories.^[1] These collections, which have not been collected primarily for use in research, are referred to in this chapter as ‘human tissue collections’ to distinguish them from human genetic research databases (see Chapter 18).

19.2 Tissue samples are collected and stored in many medical contexts. Pathology laboratories receive blood and other tissue for testing and analysis. Blood banks take donations of blood for transfusion. Hospitals remove tumours during surgery, which may be stored for later examination. Tissue repositories ‘bank’ bone marrow, skin and blood for use in treatment. Organs and tissues are also removed and retained following autopsy. In each of these cases, samples containing human genetic material are stored.

19.3 In some instances, tissue is stored only for a short time and then disposed of. Other tissue is archived and retained for a significant period of time, whether for teaching purposes, to meet quality assurance requirements, or to allow future re-testing. Retention with no single, defined purpose also occurs, as is the case with newborn screening cards created as part of newborn screening programs.

19.4 Developments in genetic technology have made it possible to perform almost all available genetic tests on stored tissue, provided it has been adequately preserved. Large amounts of potentially sensitive information about the person from whom the tissue was taken and his or her family can be obtained from archived tissue.

19.5 As a result, archived collections of preserved human tissue have taken on a new importance as both a scientific and economic resource, particularly where they can be linked with an individual’s medical history. In particular, they are invaluable research resources for studies into the genetic causes of disease. Genetic testing of stored tissue samples has potential uses in other contexts, including criminal or police investigations, as evidence in court proceedings and for parentage or other kinship testing. These secondary uses raise issues of privacy and consent.

19.6 This chapter examines aspects of the regulatory framework that applies to human tissue collections and, in particular, to newborn screening cards. The Inquiry has concluded that there is a need for nationally consistent rules in relation to the collection, storage, use and disclosure of, and access to newborn screening cards and other human tissue collections.^[2]