Edition of 15 May 2017

In this advisory report, the Superior Health Council (SHC) of Belgium provides recommendations on the “criteria that need to be applied in preconceptual genetic testing for severe autosomal and X-linked recessive diseases for couples planning a pregnancy.”

The recommendations are meant for healthcare authorities and professionals and cover scientific and ethical issues to be considered in this context.

They provide 6 recommendations:

1. “The SHC considers that knowledge of a person’s carrier status can provide benefit in a reproductive context.
2. The SHC considers that expanded carrier screening should be offered preconceptionally as this allows more reproductive options, and has less time constraints, resulting in less emotional distress than if the test were performed during the pregnancy.
3. The SHC considers that carrier screening panels should include disorders and mutations based on specific criteria (I. severity, II. age of onset, III. prevalence, IV., selection of mutations based on clinical significance, V. treatability).
4. Considering the role of professionals such as gynecologists and general practitioners in guiding pregnant women or in guiding families planning a pregnancy, these professionals are well placed to inform about carrier screening or to follow up requests for carrier screening.
5. The SHC believes that the most affordable strategy for identifying at-risk couples is screening both partners.
6. As for any medical intervention, participation in carrier screening implies an informed and voluntary participation.
7. The SHC also recognizes that stakeholder involvement about carrier screening should take place.
8. The SHC recommends a stepwise introduction of the carrier screening as the implementation of carrier screening as a reproductive choice may imply considerable adaptation of current services and practices or even require novel types of services.”

An article published in Health Policy describes the Health Technology Assessment (HTA) programmes in England, Scotland and the European Union for assigning a value to orphan medicinal products (OMPs) to inform coverage decisions. The authors recognise that the conventional HTA do not effectively calculate cost-effectiveness of OMPs.

They have thus performed an extensive literature survey and sought views of representatives of HTA for this article. They describe and compare Patient and Clinician Engagement (PACE), decision making programmes at the Scottish Medicines Consortium (SMC); the Highly Specialised Technology (HST) programme at the National Institute for Health and Care Excellence (NICE) in England; and the Mechanism of Coordinated Access (MoCA) to OMPs a European initiative initiated during the Belgian EU Presidency.

The authors especially describe the MoCA initiative, which is a novel collaborative approach “provides a mechanism for European countries to collaborate on access for patients with rare diseases to OMPs via a voluntary, dialogue-based approach, with flexible interactions between key stakeholders to agree on the value of OMPs.”