We need a list with the criteria not a list of genetic conditions

We need a list with the criteria not a list of genetic conditions. Guidelines for all laboratories describing what results should be returned, in what age, the severity of condition, what would happen with late-onset, with minors …things like that (Participant 06). Finally, many suggested that we do not need to “re-invent the wheel” but we could instead look to what was available in other countries and adapt it to the Greek context. I would like to have some short of soft-law,

i.e. guidelines from a professional association that would describe what is happening in other countries, what is the state of the art abroad. And from Momelotinib that they could bring something and adapt it according to our need here. We don’t need to start from the beginning when there could be Go6983 datasheet something available

abroad (Participant 09). Discussion Our goal was to investigate Greek experts’ attitudes toward clinical sequencing and Fedratinib ic50 return of IFs. Their extensive experience and expertise was used to help us acquire a better understanding of the existing situation in Greece regarding clinical sequencing and the return of IFs. From the interviews, a consensus could be observed among experts from different backgrounds that IFs that are clinically valid and actionable should be returned, always according to patients’ wishes. In the same way, they all acknowledged the importance of pre- and post-test counselling and the fact that when it comes to NGS testing, interpretation of results is the area requiring the most attention. Most experts agreed that IFs discovered in minors should be returned in most of the cases

but with extra caution. Finally, they all insisted on the need to have guidelines as soon as possible but preferred a list with criteria and detailed counselling advice rather than simply a list of genetic conditions they would be required to search for and if found, about which they would need to inform their patients. On the other hand, no consensus could be found regarding what actions should be taken regarding clinically valid Monoiodotyrosine but non-actionable results and the best time to return IFs. Several differences were observed between clinicians and geneticists. Clinicians preferred more targeted genetic testing while geneticists were more willing to use NGS. Additionally, clinicians were less in favour of returning non-actionable results and informing a patient’s family of them. Greek experts seemed to consider that genetic testing, and the genetic information derived from it, differs in some important ways from other medical information, as this data concerns family members apart from the patient and scientific knowledge and understanding change very quickly in this context. Additionally, the meaning of actionability was also raised by many and understood in more than one way. Patient autonomy was referred to as an ideal, but problems with managing this in practice were highlighted.

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