This paper discusses the outcomes of engaging with patients and the public around genetic testing for neuromuscular diseases in Latin America and reports on early collaborative encounters with clinicians in the Latin SEQ+ study.

The Latin SEQ+ study is a collaborative international project funded by the UK Medical Research Council to evaluate the delivery of Whole Exome Sequencing (WES) to 1000 patients with undiagnosed neuromuscular disease(5) across 15 countries in Latin America. Unprecedented access to WES is available to Latin American patients via a pharma-funded project, the Latin-SEQ study. However, in most Latin American countries, genetic counselling is not a well-resourced or registered profession and patients having WES will not have prior access to genetic counselling. WES will be delivered by their neuromuscular specialist clinicians. Delivering genomics without genetic counselling is concerning for patient outcomes and the concern is shared by clinicians in the UK where WES is also increasingly delivered by non-genetics specialist clinicians.

Genetic counsellors holistically consider how a genetic diagnosis impacts patients and families. Genetic testing can affect individuals psychologically and socially and it can change family relationships(9). Genetic counselling is important to help individuals reach an informed contextually specific decision that is right for them at the point of testing. It prepares patients for the potential and actual outcomes of a genetic test including those that are not directly looked for which is a real possibility in genomic medicine

Across Latin America, some of the benefits of a genetic diagnosis such as tailored treatment, better supportive care, and prenatal testing options may not be realised(2). Gene therapy may be unachievable given limited resources. Cultural and religious beliefs may influence acceptability/accessibility of prenatal testing.

The Latin-SEQ+ evaluation uses mixed methods (surveys, qualitative interviews, and ethnography) to explore how genetic counselling is delivered in contexts without dedicated genetic counselling resources. Indicative aims and scope are outlined below, which will be iteratively developed and adjusted following extensive stakeholder engagement.

The evaluation aims to:

1. highlight the experiences of clinicians giving a diagnosis and patients’ and families’ experiences of receiving a genetic diagnosis.
2. understand how, and if, any changes are made to patients’ care depending on the outcome of WES (explanatory variant found, no variant found, variant of uncertain significance found)
3. identify, describe, and understand how genetic information is communicated within families.
4. understand culturally specific influences on delivering and receiving diagnoses via WES.

Early Stakeholder Engagement

The paper discusses survey findings from patients and public involved in neuromuscular disease charities in Latin America and initial responses and concerns from collaborators gleaned from meeting observations and survey.

Ultimately, evaluation outputs will develop educational input and resource; share findings with partners to grow their genetics services and improve patient outcomes; highlight areas of good practice and share findings with Health Education England and Genomics England to inform UK service development. The project will generate new knowledge about delivering effective genetic counselling to improve patient outcomes in Latin America and the UK.