Direct-to-consumer personal genome testing: ethical and regulatory issues that arise from wanting to 'know' your DNA.

Direct-to-consumer personal genome testing (DTC-PGT) screens a customer's genome for the presence of single nucleotide polymorphisms that are reported to be associated with various diseases, disease risk factors and personal characteristics. The range of health risks covered by personal genome testing (PGT) includes cancer, heart disease, obesity, diabetes mellitus and osteoporosis. PGT also detects a range of other characteristics, such as alcohol 'flush reaction', eye colour, ear wax type and bitter taste perception. Information about ancestry and family history is also available. Although DTC-PGT is still a relatively new enterprise, the technology has the potential for rapid expansion as it becomes more accessible to consumers who wish to obtain information about their genetic profile. This review provides an overview of the broader ethical and regulatory issues raised by personal genome tests that are marketed directly to the public, and that purport to provide information about health risks. We discuss the emergence of DTC-PGT in Australia, and the possible regulatory responses that may be taken to manage it.

Establishing the role of pre-implantation genetic diagnosis with human leucocyte antigen typing: what place do "saviour siblings" have in paediatric transplantation?

BACKGROUND: Not all children in need of a haematopoietic stem cell transplant have a suitable relative or unrelated donor available. Recently, in vitro fertilisation (IVF) with pre-implantation genetic diagnosis (PGD) for human leucocyte antigen (HLA) tissue typing has been used to selectively transfer an IVF embryo in order to produce a child who may provide umbilical cord blood for transplantation to an ill sibling. Such children are sometimes called "saviour siblings". OBJECTIVE: To examine the published clinical and epidemiological evidence relevant to the use of this technology, with the aim of clarifying those situations where IVF and PGD for HLA typing should be discussed with parents of an ill child. DESIGN: A critical analysis of published literature on comparative studies of umbilical cord blood versus other sources of stem cells for transplantation; comparative studies of matched unrelated donor versus matched related donor transplantation; and the likelihood of finding an unrelated stem cell donor. CONCLUSION: IVF and PGD for HLA typing is only applicable when transplantation is non-urgent and parents are of reproductive age. Discussions regarding this technology may be appropriate where no suitable related or unrelated donor is available for a child requiring a transplant, or where no suitable related donor is available and transplantation is only likely to be entertained with a matched sibling donor. Discussion may also be considered in the management of any child lacking a matched related donor who requires a non-urgent transplant or may require a transplant in the future.

Ethnicity, equity and public benefit: a critical evaluation of public umbilical cord blood banking in Australia.

Over the past decade umbilical cord blood (UCB) has been increasingly used as a source of haematopoietic stem cells (HSCs) for patients who require a HSC transplant but do not have an HLA-matched donor. It was anticipated that using UCB as an alternative source of HSCs would increase the chance of finding a donor, particularly for the otherwise underrepresented ethnic minority groups. To evaluate the effectiveness of the Australian public UCB banks to increase the ethnic diversity of available HSC donations, this paper analyses the ethnic diversity of the Sydney Cord Blood Bank (SCBB), comparing this diversity to that of the Australian Bone Marrow Donor Registry (ABMDR). It also examines the ethnic diversity of those patients who, after requesting a haematopoietic stem cell transplantation in the 2-year period between 2003 and 2005, managed to find a suitably matched bone marrow or UCB donor. We show that the ethnic mix of donors to the SCBB has remained generally broad in source, is comparative to the Australian population, and is more diverse than the ABMDR. This, however, may still not be sufficient to substantially increase the likelihood of finding a donor for some ethnic minority groups.