[Promoting public involvement to increase the legitimacy in health policy decisions]. / Favoriser l'implication du public pour accroître la légitimité des prises de décision en matière de politiques de santé?

The participation of the public in the elaboration of politics has become unavoidable in most countries. The Universal Declaration on Bioethics and Human Rights of UNESCO, adopted by the General conference in 2005, makes the public a paramount aspect in the decision making in bioethics. In the case of explanatory research, based on political analysis and guidelines on the newborn screening programs from different countries, we have examined how the "public" is defined (who is the public?), what are the levels of privileged engagement, and what are the objectives sought out by this public participation? In general terms, we have noticed that the terms "consultation", "engagement", "participation" and "partnership" are often used as though they were synonymous, that the "public" is rarely well defined and that the levels of engagement from the public are variable. However, in spite of these findings, it appears that this willingness to respect the choice of individuals and to implicate the population in the debates or in the elaboration of health policies is motivated by the pursuit of values. These last few, although not frequently explicitly named to justify the initiative to involve the public constitute the source of these initiatives. In summary, it is evident that the moral values result in a significant difference in the answers that a population will give to the issues raised in a given domain and that these are often values that participation of the public looks to better identify and to integrate into health policies.

Points to consider for laboratories reporting results from diagnostic genomic sequencing.

Although NGS technologies are well-embedded in the clinical setting for identification of genetic causes of disease, guidelines issued by professional bodies are inconsistent regarding some aspects of reporting results. Most recommendations do not give detailed guidance about whether variants of uncertain significance (VUS) should be reported by laboratory personnel to clinicians, and give conflicting messages regarding whether unsolicited findings (UF) should be reported. There are also differences both in their recommendations regarding whether actively searching for secondary findings (SF) is appropriate, and in the extent to which they address the duty (or lack thereof) to reanalyse variants when new information arises. An interdisciplinary working group considered the current guidelines, their own experiences, and data from a recent qualitative study to develop a set of points to consider for laboratories reporting results from diagnostic NGS. These points to consider fall under six categories: (i) Testing approaches and technologies used, (ii) Approaches for VUS; (iii) Approaches for reporting UF, (iv) Approaches regarding SF; (v) Reanalysis of data & re-contact; and vi) Minors. While it is unclear whether uniformity in reporting across all laboratories is desirable, we hope these points to consider will be useful to diagnostic laboratories as they develop their processes for making decisions about reporting VUS and UF from NGS in the diagnostic context.