Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary

The increasing integration of genomic medicine into routine medical care brings to light issues of complexity and uncertainty in the interpretation of genetic variation.We describe a fictional case study based on our experiences in the haematological malignancy setting to illustrate the complexities in using genomic testing to evaluate the suitability of relatives to act as stem cell donors. In particular, we demonstrate the ethical issues arising following the identification of a germline variant of uncertain significance (VUS) in a gene associated with inherited cancer susceptibility in a potential recipient. We discuss the factors that need to be considered, such as how this might influence donor selection, the potential for donor-derived leukaemia and the issues of offering testing to other family members.Popular discourse suggests genomics can offer clarity and transformation in healthcare. This case highlights the ethically complex nature of decision-making in genetic medicine due to the familial aspects of genomic information, the uncertain nature of many genomic results and how changes in the use of genomic information in clinical practice can call for urgent decision-making. This highlights the need for increased interdisciplinary working which takes into account the factors driving decisions for each specialty and recommends access to independent ethics support for members of the multidisciplinary team.