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Aim: To survey the general public about whole genome sequencing interest, including pharmacogenomic testing, and to identify information important for sequencing decisions. Patients & methods: An online survey of 901 members of the general public in an eastern Canadian province. Results: Interest in whole genome sequencing, including pharmacogenomic testing, was high with few differences among demographic variables. Issues identified as very important to sequencing decisions included familial implications of testing, whether treatment was available for conditions tested and knowing who could access genomic information. Most respondents would value support when interpreting sequencing results. Conclusion: Findings reveal the kind of information and support users of sequencing services would value and could inform the implementation of sequencing into care in ways that accord with public preferences and needs.

Consent processes for newborn bloodspot screening (NBS) are variable, with a lack of descriptive research that depicts how the offer of NBS is made to parents. We explored the experience, in practice, of consent for NBS. Semistructured interviews in two Canadian provinces were held with: (1) parents of children offered NBS (n=32); and (2) health-care professionals involved in the NBS process (n=19). Data on recollections of NBS, including consent processes, were utilized to identify emerging themes using the method of constant comparison. Three themes were relevant to NBS consent: (1) The 'offer' of NBS; (2) content and timing of information provision; and (3) the importance of parental experiences for consent decisions. Recollections of consent for NBS were similar between jurisdictions. Excepting midwives and their patients, NBS was viewed as a routine part of giving birth, with little evidence of an informed consent process. Although most parents were satisfied, all respondents suggested information about NBS be provided long before the birth. Accounts of parents who declined screening highlight the influence of parental experiences with the heel prick process in screening decisions. Findings further our understanding of consent in practice and highlight areas for improvement in parent-provider interactions.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disease of the heart muscle, causing life-threatening ventricular arrhythmias, sudden cardiac death and/or biventricular heart failure. Little research examines ARVC genetic test decisions, despite the gravity of the condition. This qualitative study used semi-structured interviews to explore the testing decisions of 21 individuals across 15 families segregating a well-studied, particularly lethal form of ARVC caused by a p.S358L TMEM43 mutation. Genetic testing decisions were rarely described as 'decisions' per se, but rather 'something that had to be done'. This perception was attributed to personality type or personal suspicion of carrying the TMEM43 mutation, but most often was described in the context of testing for other family members, usually children. Participants related a strong need to rule out risk, more for children than for themselves, but lingering doubts remained about personal and children's risk for ARVC, even when gene test results were negative. Study findings highlight the interdependent nature of genetic test decisions and suggest that an individualistic conception of autonomy in genetic services may not meet the needs of affected families. Findings also suggest the need for follow-up support of families affected by ARVC, including for those individuals testing negative for the family mutation., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)