Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest 'opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening. (2) If true IFs are discovered the AGNC are guided by the report from the Joint Committee on Medical Genetics about the sharing of genetic testing results. (3) Children should not be routinely tested for adult-onset conditions. (4) The formation of a list of variants should involve a representative from the AGNC as well as a patient support group. (5) The variants should be for serious or life-threatening conditions for which there are treatments or preventative strategies available. (6) There needs to be robust evidence that the benefits of opportunistic screening outweigh the potential harms. (7) The clinical validity and utility of variants should be known. (8) There must be a quality assurance framework that operates to International standards for laboratory testing. (9) Psychosocial research is urgently needed in this area to understand the impact on patients.

Distinguishing research from clinical care in cancer genetics: theoretical justifications and practical strategies.

The relationship between clinical research and clinical care is often perceived as unclear, particularly in highly technological subspecialties. This ambiguity is illustrated in cancer genetics where research protocols are frequently used to provide access to procedures that may be offered as a clinical service in other specialties. The project on which this paper is based investigated lay and expert perceptions of the activities which take place within the cancer genetics clinic. Semi-structured interviews were conducted with 40 individuals who are involved in cancer genetics research in the UK, the majority (18 clinical geneticists, 10 genetic counsellors/nurse specialists) of whom also provide a clinical service. Interviewees emphasised the need to differentiate research from clinical care for service users, and provided regulatory, ethical, economic and translational justifications for distinguishing these activities. A number of strategies for differentiating research from clinical care were described by those who work as healthcare professionals, which involved deliberately displacing these activities in time and space. It is argued that by distinguishing research from clinical care clinical researchers are engaging in a form of boundary work which enables them to manage what they experience as a conflict of interest generated by the different roles they occupy within the cancer genetics clinic. Finally, we discuss the implications of these findings for the process of informed consent.