2013). ACMG recommends that when conducting clinical sequencing, regardless of the diagnostic indication for which the test is being conducted, or the age of the patient, laboratories should actively look for and report mutations on listed genes. The variants included in the list were medically actionable and concerned conditions with well-established genetic aetiology. Although these recommendations were revised on April 2014 (ACMG 2014) allowing patients to opt out from receiving IFs, they still represent the beginning
of a discussion that has dominated the literature for the last 15 months. Additional guidance comes from the Presidential Commission I-BET-762 mw for the Study of Bioethics Issues (USA). In their report published in December 2013, they recommended that regardless the setting “practitioners should inform potential recipients about the possibility of incidental findings” and ascertain recipients’
intentions about receiving them ahead of time (BioethicsGov 2013). At a European level, the European Society of Human Genetics in their “Call for Prudence” encourage the use of targeted tests to avoid IFs, while acknowledging that “patient’s see more right not to know may sometimes have to be secondary to clinical geneticists’ professional responsibilities” (van El et al. 2013a, b). These recommendations and the discussion surrounding ACMG recommendations (Green et al. 2013; Couzin-Frankel 2013; Klitzman et al. Methocarbamol 2013; McGuire et al. 2013; Bombard et al.
2013; Ross et al. 2013) and their early adoption (GenomeWeb 2013; Heger 2013) highlight the fact that this field is moving very quickly and brings to the surface fundamental differences in ethical views. Experts from the USA and Europe have expressed their reservations about the implementation of the ACMG recommendations suggesting that more evidence is needed and that these recommendations might not be appropriate for all types of clinical sequencing (Middleton et al. 2014; Burke et al. 2013; Hickner 2013). These guidelines could seem attractive for adoption by smaller counties where there are currently no guidelines and where resources are limited to produce guidelines by themselves, such as in the case of Greece. However, to ensure what guidelines are appropriate for each country, various stakeholders need to be approached. Given the controversy, it is crucial to ascertain the attitudes of different stakeholders. These stakeholders are likely to include, among others, professionals and experts in genomics, patients, and the lay public. Input from different countries should also be sought to compare and contrast different attitudes. These PRT062607 supplier perspectives could then be used to support the creation of guidelines in other countries that would better reflect cultural differences.